Mutagenetix > Incidental Mutation

Incidental Mutation 'FR4976:Blm'

511869

Institutional Source

Beutler Lab

Gene Symbol

Blm

Ensembl Gene

ENSMUSG00000030528

Gene Name

Bloom syndrome, RecQ like helicase

Synonyms

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

FR4976 ()

Quality Score

217.468

Status

Not validated

Chromosome

Chromosomal Location

80454733-80535119 bp(-) (GRCm38)

Type of Mutation

small insertion (4 aa in frame mutation)

DNA Base Change (assembly)

TCCTCCTCCTCCTCCTCCTCCTCC to TCCTCCTCCTCCACCTCCTCCTCCTCCTCCTCCTCC at 80512907 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000127995 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000081314] [ENSMUST00000170315]

AlphaFold

O88700

Predicted Effect

probably benign
Transcript: ENSMUST00000081314

SMART Domains

Protein: ENSMUSP00000080062
Gene: ENSMUSG00000030528

Domain	Start	End	E-Value	Type
low complexity region	46	54	N/A	INTRINSIC
low complexity region	118	132	N/A	INTRINSIC
low complexity region	142	169	N/A	INTRINSIC
low complexity region	219	231	N/A	INTRINSIC
low complexity region	318	335	N/A	INTRINSIC
Pfam:BDHCT	376	416	5.5e-27	PFAM
low complexity region	557	574	N/A	INTRINSIC
DEXDc	672	873	1.59e-29	SMART
HELICc	910	992	1.29e-24	SMART
RQC	1084	1198	1.43e-15	SMART
HRDC	1217	1297	9.4e-20	SMART
low complexity region	1357	1371	N/A	INTRINSIC
low complexity region	1378	1392	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000166096

Predicted Effect

probably benign
Transcript: ENSMUST00000170315

SMART Domains

Protein: ENSMUSP00000127995
Gene: ENSMUSG00000030528

Domain	Start	End	E-Value	Type
Pfam:BLM_N	4	375	1.1e-161	PFAM
Pfam:BDHCT	380	419	6.4e-25	PFAM
Pfam:BDHCT_assoc	433	658	8.8e-108	PFAM
DEXDc	675	876	1.59e-29	SMART
HELICc	913	995	1.29e-24	SMART
Pfam:RecQ_Zn_bind	1006	1078	1.5e-19	PFAM
RQC	1087	1201	1.43e-15	SMART
HRDC	1220	1300	9.4e-20	SMART
low complexity region	1360	1374	N/A	INTRINSIC
low complexity region	1381	1395	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000205263

Coding Region Coverage

1x: 99.8%
3x: 99.6%
10x: 98.7%
20x: 96.9%

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The Bloom syndrome gene product is related to the RecQ subset of DExH box-containing DNA helicases and has both DNA-stimulated ATPase and ATP-dependent DNA helicase activities. Mutations causing Bloom syndrome delete or alter helicase motifs and may disable the 3'-5' helicase activity. The normal protein may act to suppress inappropriate recombination. [provided by RefSeq, Jul 2008]
PHENOTYPE: Homozygous null mutants are developmentally delayed, with increased apopotosis in the epiblast and severe anemia, dying at embyronic day 13.5; but homozygotes for a cre mediated recombinant allele are viable Bloom syndrome-like mice prone to a wide variety of cancers and showing increased rates of LOH. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 221 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700001K19Rik	TTC	TTCATC	12: 110,668,447 (GRCm38)		probably benign	Het
1700001K19Rik	TTC	TTCGTC	12: 110,668,450 (GRCm38)		probably benign	Het
Abt1	TTCTTGCT	TT	13: 23,423,711 (GRCm38)		probably benign	Het
AI837181	GGC	GGCCGC	19: 5,425,229 (GRCm38)		probably benign	Het
Akap12	AAA	AAACAA	10: 4,353,837 (GRCm38)		probably benign	Het
Alg1	GCTCACTCAC	GCTCAC	16: 5,244,561 (GRCm38)		probably null	Homo
Alg9	G	GCGA	9: 50,775,431 (GRCm38)		probably benign	Het
Amfr	GCC	GCCGGCGCGAGCTCC	8: 94,012,292 (GRCm38)		probably benign	Het
Anapc2	TGGCGGTGGCGGCGGCGGCGGCGGCGGCGG	TGGCGGCGGCGGCGGCGG	2: 25,272,532 (GRCm38)		probably benign	Het
Anxa7	C	T	14: 20,469,411 (GRCm38)	G113E	probably damaging	Homo
Apc	CCAATAAAG	CCAATAAAGTCAATAAAG	18: 34,281,998 (GRCm38)		probably benign	Het
Apc	AATAAAGC	AATAAAGCCTATAAAGC	18: 34,282,000 (GRCm38)		probably benign	Het
Apc	AAGC	AAGCCAATATAGC	18: 34,282,004 (GRCm38)		probably null	Het
Atad3a	C	A	4: 155,753,939 (GRCm38)	R207L	probably damaging	Homo
Bmp5	GAGGAGT	G	9: 75,776,375 (GRCm38)		probably benign	Homo
Bpifa6	A	T	2: 153,986,376 (GRCm38)	Q134L	probably benign	Homo
Bpifa6	A	T	2: 153,986,398 (GRCm38)	R141S	probably benign	Homo
Btnl10	AGA	AGAGGA	11: 58,923,929 (GRCm38)		probably benign	Homo
Cacna1a	ACC	ACCGCC	8: 84,638,717 (GRCm38)		probably benign	Het
Cacna1a	ACC	ACCTCC	8: 84,638,726 (GRCm38)		probably benign	Het
Calhm1	TGGCTGTGGCTG	TGGCTGTGGCTGCGGCTGTGGCTG	19: 47,141,262 (GRCm38)		probably benign	Het
Catsper2	C	CTTTTACTTTTTT	2: 121,397,542 (GRCm38)		probably benign	Homo
Catsper2	TGTC	TGTCGTC	2: 121,397,779 (GRCm38)		probably benign	Homo
Catsper2	CAT	CATTAT	2: 121,397,782 (GRCm38)		probably benign	Het
Catsper2	ATCGTCGTCGTC	ATCGTCGTCGTCGTC	2: 121,397,795 (GRCm38)		probably benign	Het
Ccdc170	ACCGCC	ACCGCCGCC	10: 4,561,008 (GRCm38)		probably benign	Het
Ccdc170	ACC	ACCGCC	10: 4,561,023 (GRCm38)		probably benign	Het
Ccdc170	AC	ACCTC	10: 4,561,029 (GRCm38)		probably benign	Het
Ccnk	TTCCCAC	T	12: 108,202,507 (GRCm38)		probably benign	Het
Cdx1	GGGCTGC	GGGCTGCGGCTGC	18: 61,019,867 (GRCm38)		probably benign	Het
Cdx1	GCTGCT	GCTGCTTCTGCT	18: 61,019,869 (GRCm38)		probably benign	Het
Cep112	G	GCTCT	11: 108,425,352 (GRCm38)		probably benign	Het
Cep89	GACT	G	7: 35,409,641 (GRCm38)		probably benign	Het
Cfap46	CCTTCT	CCTTCTTCT	7: 139,638,930 (GRCm38)		probably benign	Homo
Chd4	GC	GCTCCCTC	6: 125,122,131 (GRCm38)		probably benign	Homo
Cluh	GCCTGA	GCCTGAACCTGA	11: 74,669,520 (GRCm38)		probably benign	Het
Cnpy3	CCT	CCTACT	17: 46,736,747 (GRCm38)		probably null	Het
Cntnap1	A	ACCCCCC	11: 101,189,569 (GRCm38)		probably benign	Het
Cntnap1	CCCAGC	CCCAGCACCAGC	11: 101,189,572 (GRCm38)		probably benign	Het
Cntnap1	CCAGCC	CCAGCCTCAGCC	11: 101,189,585 (GRCm38)		probably benign	Het
Cntnap1	GCCCCA	GCCCCACCCCCA	11: 101,189,588 (GRCm38)		probably benign	Het
Col4a3	CGTTTTTTTTTTTTTTTT	C	1: 82,718,906 (GRCm38)		probably null	Het
Cpne1	AGA	AGAGAGA	2: 156,072,025 (GRCm38)		probably null	Homo
Cracdl	T	A	1: 37,625,035 (GRCm38)	E594V	probably benign	Homo
Cracdl	C	A	1: 37,625,036 (GRCm38)	E594*	probably null	Homo
Cracdl	A	G	1: 37,625,102 (GRCm38)	S47P	probably damaging	Homo
Ctsm	AGTG	AGTGGGTG	13: 61,537,836 (GRCm38)		probably null	Homo
Cttnbp2	GCTGCT	GCTGCTCCTGCT	6: 18,367,461 (GRCm38)		probably benign	Het
Cttnbp2	GCTGCT	GCTGCTTCTGCT	6: 18,367,467 (GRCm38)		probably benign	Het
Cul9	TCC	TCCCCC	17: 46,500,856 (GRCm38)		probably benign	Het
Cul9	TCC	TCCCCC	17: 46,500,853 (GRCm38)		probably benign	Het
Cul9	TCC	TCCGCC	17: 46,500,850 (GRCm38)		probably benign	Het
Cul9	CTTC	CTTCTTC	17: 46,500,848 (GRCm38)		probably benign	Het
Cybrd1	GAAT	G	2: 71,138,511 (GRCm38)		probably benign	Homo
Dbr1	GG	GGAGGAAG	9: 99,583,702 (GRCm38)		probably benign	Het
Dbr1	AGG	AGGAGGCGG	9: 99,583,701 (GRCm38)		probably benign	Het
Dbr1	AGGAGG	AGGAGGCGGAGG	9: 99,583,692 (GRCm38)		probably benign	Het
Dbr1	AGGAGG	AGGAGGCGGAGG	9: 99,583,689 (GRCm38)		probably benign	Het
Dcaf8	C	T	1: 172,172,856 (GRCm38)	H194Y	probably damaging	Homo
Dennd10	T	TTCA	19: 60,814,622 (GRCm38)		probably benign	Homo
Dennd10	ACTC	ACTCCTC	19: 60,814,618 (GRCm38)		probably benign	Homo
Dnaaf9	C	CTCG	2: 130,770,753 (GRCm38)		probably benign	Het
Dnaaf9	TCC	TCCACC	2: 130,770,742 (GRCm38)		probably benign	Het
Dnaaf9	TCC	TCCCCC	2: 130,770,739 (GRCm38)		probably benign	Het
Dnajc19	AC	ACGC	3: 34,057,994 (GRCm38)		probably null	Het
Dthd1	GAC	GACTAC	5: 62,843,024 (GRCm38)		probably benign	Homo
Dusp10	G	T	1: 184,037,056 (GRCm38)	C73F	probably damaging	Homo
Eif3a	A	ATTTTT	19: 60,775,291 (GRCm38)		probably benign	Homo
Ermn	CTT	CTTGTT	2: 58,048,080 (GRCm38)		probably benign	Het
Ermn	TC	TCTAC	2: 58,048,088 (GRCm38)		probably benign	Het
Fbxo38	TGCAGC	TGC	18: 62,515,347 (GRCm38)		probably benign	Het
Frem3	CT	CTTGT	8: 80,615,241 (GRCm38)		probably benign	Homo
Fsip2	TTTTT	TTTTTGTTTT	2: 82,984,362 (GRCm38)		probably benign	Het
Fsip2	TT	TTTTTCT	2: 82,984,365 (GRCm38)		probably benign	Het
Gabre	T	TGAGGCC	X: 72,270,422 (GRCm38)		probably benign	Homo
Gabre	AGGCT	AGGCTGCGGCT	X: 72,270,418 (GRCm38)		probably benign	Homo
Gm10800	A	AC	2: 98,667,033 (GRCm38)		probably null	Homo
Gm14393	T	G	2: 175,061,820 (GRCm38)	N98T	probably benign	Het
Gm16503	G	A	4: 147,541,253 (GRCm38)	G68E	unknown	Het
Gm28040	TG	TGGCACCTTTCGAG	1: 133,327,323 (GRCm38)		probably benign	Homo
Gm4340	AGC	AGCCGC	10: 104,196,079 (GRCm38)		probably benign	Het
Gm6309	C	T	5: 146,168,183 (GRCm38)	V307I	probably benign	Het
Golga5	G	A	12: 102,475,660 (GRCm38)		probably null	Homo
Gpatch11	AGGAA	AGGAAGTGGAA	17: 78,842,180 (GRCm38)		probably benign	Het
Gpatch11	GAGGAA	GAGGAATAGGAA	17: 78,842,173 (GRCm38)		probably null	Het
Gpatch11	AGAGGA	AGAGGATGAGGA	17: 78,842,172 (GRCm38)		probably benign	Het
Gpatch11	AAGAGG	AAGAGGCAGAGG	17: 78,842,171 (GRCm38)		probably benign	Het
Gpatch11	GAAGAG	GAAGAGCAAGAG	17: 78,842,170 (GRCm38)		probably benign	Het
H2-K1	GTTT	G	17: 33,997,042 (GRCm38)		probably benign	Homo
Hcn1	GCAGC	GCAGCGACAGC	13: 117,975,808 (GRCm38)		probably benign	Homo
Hoxa10	T	A	6: 52,234,186 (GRCm38)	Q250L	possibly damaging	Homo
Igf1r	C	CTGGAGATGGAGA	7: 68,226,186 (GRCm38)		probably benign	Het
Igf1r	TGGAGC	TGGAGCTGGAGAGGGAGC	7: 68,226,181 (GRCm38)		probably benign	Het
Il17rd	CGG	CGGTGG	14: 27,082,677 (GRCm38)		probably benign	Het
Il2	GG	GGGGCTTGAAGTAG	3: 37,125,829 (GRCm38)		probably benign	Het
Ipo9	TCC	TCCCCC	1: 135,386,281 (GRCm38)		probably benign	Het
Iqcc	T	TGTCAGCCTCCTTGTACCC	4: 129,616,676 (GRCm38)		probably benign	Het
Irag2	CACATTG	CACATTGAGGACATTG	6: 145,173,785 (GRCm38)		probably benign	Homo
Isg20l2	AAG	AAGTAG	3: 87,931,715 (GRCm38)		probably null	Het
Kcng4	G	T	8: 119,633,519 (GRCm38)	Y39*	probably null	Homo
Kmt2b	CCTCCT	CCTCCTGCTCCT	7: 30,586,373 (GRCm38)		probably benign	Het
Kmt2b	TCCTCC	TCCTCCACCTCC	7: 30,586,366 (GRCm38)		probably benign	Het
Kmt2b	CCTCCT	CCTCCTACTCCT	7: 30,586,364 (GRCm38)		probably null	Het
Kmt2b	CTCCTC	CTCCTCGTCCTC	7: 30,586,362 (GRCm38)		probably benign	Het
Kmt2b	TCCTCC	TCCTCCCCCTCC	7: 30,586,360 (GRCm38)		probably benign	Het
Kmt2c	TGCTGCTGCTGTTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCT	TGCTGCTGCTGCTGCTGTTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCT	5: 25,315,763 (GRCm38)		probably benign	Homo
Krtap9-3	AC	ACAGGTGCCTC	11: 99,598,004 (GRCm38)		probably benign	Homo
Las1l	A	AGGC	X: 95,940,833 (GRCm38)		probably benign	Het
Las1l	GA	GAGAA	X: 95,940,832 (GRCm38)		probably benign	Het
Las1l	AGG	AGGGGG	X: 95,940,827 (GRCm38)		probably benign	Het
Lce1m	TGCCAC	TGCCACTGCTGCAGCCAC	3: 93,018,148 (GRCm38)		probably benign	Het
Leo1	GGTACCATGCAG	GG	9: 75,450,572 (GRCm38)		probably benign	Het
Lrit3	CATA	CATAAATA	3: 129,803,910 (GRCm38)		probably benign	Homo
Mamld1	GCA	GCAACA	X: 71,118,818 (GRCm38)		probably benign	Het
Mamld1	GCAACA	GCAACAACA	X: 71,118,812 (GRCm38)		probably benign	Het
Mast4	TGG	TGGGGGCGG	13: 102,736,312 (GRCm38)		probably benign	Het
Mast4	GGACAAGCTGTGAGTTGGGGAACCCGGGAG	GG	13: 102,739,247 (GRCm38)		probably null	Homo
Med12l	GCA	GCACCA	3: 59,275,977 (GRCm38)		probably benign	Het
Mn1	CAG	CAGAAG	5: 111,419,702 (GRCm38)		probably benign	Het
Morf4l2	T	C	X: 136,733,622 (GRCm38)	K286E	probably benign	Het
Msantd4	A	T	9: 4,384,937 (GRCm38)	I221F	possibly damaging	Homo
Mup21	TT	TTTTTATATACT	4: 62,149,350 (GRCm38)		probably benign	Het
Nacad	A	ACCAGGG	11: 6,599,749 (GRCm38)		probably benign	Het
Nacad	TCAGGG	TCAGGGACAGGG	11: 6,599,756 (GRCm38)		probably benign	Het
Nacad	C	CAGGGTA	11: 6,599,763 (GRCm38)		probably benign	Het
Nars1	CCACTCAC	CCAC	18: 64,510,445 (GRCm38)		probably benign	Homo
Ndufc2	C	T	7: 97,400,274 (GRCm38)	P29L	probably damaging	Het
Nkx2-6	C	T	14: 69,175,229 (GRCm38)	T282M	probably damaging	Homo
Noc2l	AGGC	AGGCGGC	4: 156,240,092 (GRCm38)		probably benign	Homo
Noc2l	CTG	CTGGTG	4: 156,240,098 (GRCm38)		probably benign	Het
Nolc1	AGC	AGCAGCAGCGGC	19: 46,081,375 (GRCm38)		probably benign	Het
Nolc1	CAG	CAGAAGCAGAAG	19: 46,081,356 (GRCm38)		probably benign	Het
Or10j2	GGGCTGCTTGTGGCAAT	G	1: 173,270,630 (GRCm38)		probably null	Het
Or51f1e	T	TTAC	7: 103,098,309 (GRCm38)		probably benign	Homo
Or51v8	AG	AGAGG	7: 103,670,966 (GRCm38)		probably benign	Homo
Or52b4	A	AAACCG	7: 102,535,681 (GRCm38)		probably null	Homo
Or5af2	T	A	11: 58,817,440 (GRCm38)	V144D	possibly damaging	Homo
Patl2	C	CTGA	2: 122,126,145 (GRCm38)		probably benign	Het
Patl2	GC	GCTTC	2: 122,126,144 (GRCm38)		probably benign	Het
Patl2	GCT	GCTTCT	2: 122,126,141 (GRCm38)		probably benign	Het
Patl2	CTG	CTGGTG	2: 122,126,139 (GRCm38)		probably benign	Het
Pdik1l	ACCACC	ACCACCCCCACC	4: 134,279,506 (GRCm38)		probably benign	Homo
Phc1	TG	TGCTGCGG	6: 122,323,600 (GRCm38)		probably benign	Het
Phf3	ACTGCCGCTCCCGCTCC	AC	1: 30,805,023 (GRCm38)		probably benign	Het
Pick1	TTC	TTCTC	15: 79,255,946 (GRCm38)		probably null	Homo
Piezo1	G	A	8: 122,495,569 (GRCm38)	R503W	probably damaging	Homo
Pik3ap1	AG	AGGGG	19: 41,281,945 (GRCm38)		probably benign	Homo
Pik3c2g	AGAGG	AGAGGGAGG	6: 139,635,654 (GRCm38)		probably null	Homo
Pitrm1	TTTTA	T	13: 6,560,596 (GRCm38)		probably benign	Homo
Pogz	GTAAT	G	3: 94,874,695 (GRCm38)		probably benign	Het
Ppp1r3f	C	A	X: 7,560,336 (GRCm38)	G562V	probably damaging	Homo
Ppp2r5c	G	T	12: 110,540,738 (GRCm38)		probably null	Homo
Prag1	CCGC	CCGCCGC	8: 36,103,883 (GRCm38)		probably benign	Homo
Prr13	CACT	CACTACT	15: 102,462,171 (GRCm38)		probably benign	Homo
Prr13	CTC	CTCTTC	15: 102,462,176 (GRCm38)		probably benign	Homo
Ptms	TCT	TCTCCT	6: 124,914,454 (GRCm38)		probably benign	Homo
Ptpn23	G	T	9: 110,387,633 (GRCm38)	P1052T	probably benign	Homo
Raph1	GG	GGGGG	1: 60,489,267 (GRCm38)		probably benign	Homo
Rpa1	TGCTGCC	T	11: 75,318,519 (GRCm38)		probably benign	Het
Rpgrip1	GGA	GGATGA	14: 52,149,394 (GRCm38)		probably benign	Het
Rpgrip1	GGAAGAAGA	GGA	14: 52,149,544 (GRCm38)		probably benign	Het
Rps19	AGCGG	AG	7: 24,888,996 (GRCm38)		probably benign	Homo
Rsf1	G	GACC	7: 97,579,909 (GRCm38)		probably benign	Homo
Serpina3m	A	G	12: 104,358,623 (GRCm38)		probably null	Homo
Setd1a	TGGTGGTGGT	TGGTGGTGGTGGTGGTGGT	7: 127,785,307 (GRCm38)		probably benign	Homo
Setd1a	TAGTGGTGG	TAGTGGTGGGAGTGGTGG	7: 127,785,316 (GRCm38)		probably benign	Het
Sfswap	ACTCAGCCC	ACTCAGCCCCCTCAGCCC	5: 129,569,751 (GRCm38)		probably benign	Het
Sh3pxd2b	GCCTGT	GCCTGTGCCTGT	11: 32,423,060 (GRCm38)		probably benign	Homo
Sh3pxd2b	CCTGTG	CCTGTGTCTGTG	11: 32,423,055 (GRCm38)		probably benign	Het
Shroom4	GCAGCAACA	GCA	X: 6,624,074 (GRCm38)		probably benign	Het
Six3	GCG	GCGTCG	17: 85,621,358 (GRCm38)		probably benign	Het
Six3	CG	CGGGG	17: 85,621,371 (GRCm38)		probably benign	Het
Skint8	C	T	4: 111,938,902 (GRCm38)	L258F	probably benign	Homo
Smoc2	AGTT	A	17: 14,401,562 (GRCm38)		probably benign	Homo
Smpx	CCCCCA	C	X: 157,720,924 (GRCm38)		probably benign	Homo
Snx1	TC	TCTGC	9: 66,104,929 (GRCm38)		probably benign	Homo
Snx1	C	CTTT	9: 66,104,930 (GRCm38)		probably benign	Homo
Sp110	CT	CTAAT	1: 85,587,489 (GRCm38)		probably benign	Het
Spaca1	GCTCTC	GCTCTCCCTCTC	4: 34,049,844 (GRCm38)		probably benign	Het
Spaca1	CGCTCT	CGCTCTTGCTCT	4: 34,049,849 (GRCm38)		probably benign	Het
Spag17	GGA	GGACGA	3: 100,056,255 (GRCm38)		probably benign	Het
Spag17	AGG	AGGTGG	3: 100,056,254 (GRCm38)		probably benign	Het
Srebf2	G	T	15: 82,185,335 (GRCm38)	A693S	probably damaging	Homo
Sry	T	TGGG	Y: 2,662,841 (GRCm38)		probably benign	Homo
Stard8	AGG	AGGTGG	X: 99,066,513 (GRCm38)		probably benign	Het
Stard8	AGG	AGGTGG	X: 99,066,525 (GRCm38)		probably benign	Het
Stk10	CCCA	C	11: 32,614,520 (GRCm38)		probably benign	Homo
Tap2	ACTG	ACTGCTG	17: 34,205,699 (GRCm38)		probably benign	Homo
Tbc1d5	G	C	17: 50,799,931 (GRCm38)	H532Q	probably benign	Homo
Tbc1d5	C	G	17: 50,799,943 (GRCm38)	Q528H	probably benign	Homo
Tfeb	GCA	GCAACA	17: 47,786,094 (GRCm38)		probably benign	Het
Tmcc1	G	A	6: 116,193,380 (GRCm38)		probably benign	Homo
Tob1	AGC	AGCCGC	11: 94,214,472 (GRCm38)		probably benign	Het
Tpsab1	TTGCACCTCCT	TT	17: 25,343,782 (GRCm38)		probably benign	Het
Trav15-2-dv6-2	G	GAAC	14: 53,649,757 (GRCm38)		probably benign	Homo
Trav15-2-dv6-2	GAA	GAATAA	14: 53,649,754 (GRCm38)		probably null	Het
Trim16	GTGA	GTGATGA	11: 62,820,689 (GRCm38)		probably benign	Homo
Tsbp1	AGC	AGCGGC	17: 34,460,061 (GRCm38)		probably benign	Het
Tsbp1	AGC	AGCGGC	17: 34,460,058 (GRCm38)		probably benign	Het
Tsen2	AGG	AGGCGG	6: 115,560,066 (GRCm38)		probably benign	Homo
Ubtf	TC	TCCGC	11: 102,306,959 (GRCm38)		probably benign	Het
Vmn1r124	G	T	7: 21,259,936 (GRCm38)	Q228K	possibly damaging	Het
Vmn1r71	A	C	7: 10,748,121 (GRCm38)	S147R	probably benign	Homo
Vmn2r99	G	A	17: 19,394,285 (GRCm38)	G756R	probably damaging	Homo
Vps13b	G	T	15: 35,846,957 (GRCm38)	A2629S	probably damaging	Homo
Wdr75	AAATAA	AAA	1: 45,823,404 (GRCm38)		probably benign	Homo
Zfp111	T	G	7: 24,199,037 (GRCm38)	K383T	probably damaging	Homo
Zfp111	A	ATCG	7: 24,199,807 (GRCm38)		probably benign	Homo
Zfp26	C	A	9: 20,438,546 (GRCm38)	A241S	probably benign	Homo
Zfp282	CGG	CGGTGG	6: 47,904,790 (GRCm38)		probably benign	Het
Zfp335	TCC	TCCACC	2: 164,907,478 (GRCm38)		probably benign	Het
Zfp335	CTC	CTCTTC	2: 164,907,474 (GRCm38)		probably benign	Het
Zfp459	A	AGTGG	13: 67,408,276 (GRCm38)		probably null	Homo
Zfp459	GA	GAGTTA	13: 67,408,275 (GRCm38)		probably null	Homo
Zfp459	TGA	TGAGAGA	13: 67,408,274 (GRCm38)		probably null	Homo
Zfp462	CC	CCTCAGCCACAGCCATC	4: 55,009,761 (GRCm38)		probably benign	Het
Zfp462	ACC	ACCTCAGCCACAGCCGCC	4: 55,009,760 (GRCm38)		probably benign	Het
Zfp598	ACCACC	ACCACCCCCACC	17: 24,680,782 (GRCm38)		probably benign	Het
Zfp598	CCACAGGC	CC	17: 24,679,372 (GRCm38)		probably benign	Het
Zfp683	AG	AGGGG	4: 134,058,879 (GRCm38)		probably benign	Homo
Zpld2	TG	TGCCG	4: 134,202,630 (GRCm38)		probably benign	Homo

Other mutations in Blm

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01531:Blm	APN	7	80,474,071 (GRCm38)	missense	probably damaging	1.00
IGL01658:Blm	APN	7	80,463,941 (GRCm38)	missense	probably damaging	0.98
IGL02048:Blm	APN	7	80,502,961 (GRCm38)	splice site	probably benign
IGL02060:Blm	APN	7	80,514,580 (GRCm38)	splice site	probably benign
IGL02063:Blm	APN	7	80,509,419 (GRCm38)	nonsense	probably null
IGL02102:Blm	APN	7	80,469,756 (GRCm38)	missense	probably damaging	1.00
IGL02420:Blm	APN	7	80,496,006 (GRCm38)	missense	probably damaging	1.00
IGL02452:Blm	APN	7	80,503,377 (GRCm38)	splice site	probably null
IGL02566:Blm	APN	7	80,474,196 (GRCm38)	missense	probably damaging	1.00
IGL03387:Blm	APN	7	80,494,147 (GRCm38)	missense	probably damaging	1.00
FR4304:Blm	UTSW	7	80,512,919 (GRCm38)	small insertion	probably benign
FR4304:Blm	UTSW	7	80,463,773 (GRCm38)	frame shift	probably null
FR4340:Blm	UTSW	7	80,512,910 (GRCm38)	small insertion	probably benign
FR4340:Blm	UTSW	7	80,512,907 (GRCm38)	small insertion	probably benign
FR4340:Blm	UTSW	7	80,463,767 (GRCm38)	unclassified	probably benign
FR4449:Blm	UTSW	7	80,512,908 (GRCm38)	small insertion	probably benign
FR4548:Blm	UTSW	7	80,463,769 (GRCm38)	frame shift	probably null
FR4589:Blm	UTSW	7	80,463,770 (GRCm38)	frame shift	probably null
FR4737:Blm	UTSW	7	80,463,774 (GRCm38)	frame shift	probably null
FR4737:Blm	UTSW	7	80,463,771 (GRCm38)	frame shift	probably null
FR4976:Blm	UTSW	7	80,463,767 (GRCm38)	unclassified	probably benign
R0133:Blm	UTSW	7	80,502,367 (GRCm38)	missense	possibly damaging	0.93
R0194:Blm	UTSW	7	80,464,946 (GRCm38)	unclassified	probably benign
R0526:Blm	UTSW	7	80,505,893 (GRCm38)	nonsense	probably null
R0673:Blm	UTSW	7	80,499,751 (GRCm38)	critical splice donor site	probably null
R0972:Blm	UTSW	7	80,513,370 (GRCm38)	missense	probably benign
R0980:Blm	UTSW	7	80,499,958 (GRCm38)	splice site	probably null
R1120:Blm	UTSW	7	80,481,466 (GRCm38)	missense	probably damaging	1.00
R1301:Blm	UTSW	7	80,455,417 (GRCm38)	nonsense	probably null
R1769:Blm	UTSW	7	80,513,370 (GRCm38)	missense	probably benign
R1866:Blm	UTSW	7	80,494,114 (GRCm38)	missense	probably benign	0.08
R1874:Blm	UTSW	7	80,497,418 (GRCm38)	missense	probably damaging	1.00
R1966:Blm	UTSW	7	80,513,186 (GRCm38)	missense	possibly damaging	0.86
R1991:Blm	UTSW	7	80,505,949 (GRCm38)	splice site	probably null
R2013:Blm	UTSW	7	80,502,399 (GRCm38)	missense	probably damaging	0.99
R2014:Blm	UTSW	7	80,502,399 (GRCm38)	missense	probably damaging	0.99
R2015:Blm	UTSW	7	80,502,399 (GRCm38)	missense	probably damaging	0.99
R2016:Blm	UTSW	7	80,505,926 (GRCm38)	missense	probably benign	0.26
R2103:Blm	UTSW	7	80,505,949 (GRCm38)	splice site	probably null
R2161:Blm	UTSW	7	80,481,370 (GRCm38)	splice site	probably null
R2215:Blm	UTSW	7	80,499,847 (GRCm38)	missense	possibly damaging	0.69
R3689:Blm	UTSW	7	80,513,079 (GRCm38)	missense	possibly damaging	0.56
R4049:Blm	UTSW	7	80,502,862 (GRCm38)	missense	probably benign	0.04
R4155:Blm	UTSW	7	80,512,904 (GRCm38)	small deletion	probably benign
R4695:Blm	UTSW	7	80,494,228 (GRCm38)	missense	probably damaging	1.00
R4774:Blm	UTSW	7	80,463,848 (GRCm38)	missense	probably damaging	1.00
R4833:Blm	UTSW	7	80,466,826 (GRCm38)	missense	probably benign
R4835:Blm	UTSW	7	80,509,546 (GRCm38)	missense	probably benign	0.41
R4994:Blm	UTSW	7	80,458,825 (GRCm38)	missense	probably benign	0.00
R5039:Blm	UTSW	7	80,505,873 (GRCm38)	missense	possibly damaging	0.50
R5330:Blm	UTSW	7	80,458,936 (GRCm38)	missense	possibly damaging	0.73
R5375:Blm	UTSW	7	80,513,229 (GRCm38)	missense	probably benign	0.00
R5408:Blm	UTSW	7	80,502,622 (GRCm38)	missense	probably benign	0.01
R5574:Blm	UTSW	7	80,499,773 (GRCm38)	missense	probably damaging	1.00
R5606:Blm	UTSW	7	80,460,832 (GRCm38)	splice site	probably null
R5702:Blm	UTSW	7	80,458,927 (GRCm38)	missense	probably benign	0.13
R5809:Blm	UTSW	7	80,464,844 (GRCm38)	missense	probably damaging	1.00
R6114:Blm	UTSW	7	80,513,487 (GRCm38)	missense	probably damaging	1.00
R6157:Blm	UTSW	7	80,512,985 (GRCm38)	missense	probably benign	0.18
R6163:Blm	UTSW	7	80,512,904 (GRCm38)	small deletion	probably benign
R6254:Blm	UTSW	7	80,480,342 (GRCm38)	missense	probably benign	0.04
R6266:Blm	UTSW	7	80,499,940 (GRCm38)	missense	probably benign	0.03
R6364:Blm	UTSW	7	80,494,526 (GRCm38)	nonsense	probably null
R6446:Blm	UTSW	7	80,512,904 (GRCm38)	small deletion	probably benign
R6502:Blm	UTSW	7	80,481,475 (GRCm38)	missense	probably damaging	0.98
R6700:Blm	UTSW	7	80,463,850 (GRCm38)	missense	possibly damaging	0.91
R7002:Blm	UTSW	7	80,469,753 (GRCm38)	missense	probably benign	0.00
R7105:Blm	UTSW	7	80,499,768 (GRCm38)	missense	probably benign	0.44
R7320:Blm	UTSW	7	80,455,354 (GRCm38)	nonsense	probably null
R7465:Blm	UTSW	7	80,513,115 (GRCm38)	missense	probably benign	0.02
R7561:Blm	UTSW	7	80,502,528 (GRCm38)	missense	probably damaging	0.99
R8500:Blm	UTSW	7	80,455,284 (GRCm38)	missense	probably damaging	1.00
R8543:Blm	UTSW	7	80,494,216 (GRCm38)	missense	probably damaging	0.98
R8774-TAIL:Blm	UTSW	7	80,512,919 (GRCm38)	small insertion	probably benign
R8774-TAIL:Blm	UTSW	7	80,512,907 (GRCm38)	small insertion	probably benign
R8774-TAIL:Blm	UTSW	7	80,512,918 (GRCm38)	small insertion	probably benign
R8775-TAIL:Blm	UTSW	7	80,512,931 (GRCm38)	small insertion	probably benign
R8860:Blm	UTSW	7	80,494,528 (GRCm38)	missense	probably benign	0.30
R8928:Blm	UTSW	7	80,512,904 (GRCm38)	small deletion	probably benign
R9089:Blm	UTSW	7	80,513,119 (GRCm38)	missense	probably damaging	1.00
R9363:Blm	UTSW	7	80,458,915 (GRCm38)	missense	probably damaging	1.00
RF001:Blm	UTSW	7	80,512,927 (GRCm38)	small insertion	probably benign
RF001:Blm	UTSW	7	80,512,903 (GRCm38)	small insertion	probably benign
RF001:Blm	UTSW	7	80,512,906 (GRCm38)	small insertion	probably benign
RF002:Blm	UTSW	7	80,512,905 (GRCm38)	small insertion	probably benign
RF002:Blm	UTSW	7	80,512,927 (GRCm38)	small insertion	probably benign
RF007:Blm	UTSW	7	80,512,933 (GRCm38)	nonsense	probably null
RF016:Blm	UTSW	7	80,512,926 (GRCm38)	nonsense	probably null
RF018:Blm	UTSW	7	80,512,926 (GRCm38)	nonsense	probably null
RF027:Blm	UTSW	7	80,512,914 (GRCm38)	frame shift	probably null
RF028:Blm	UTSW	7	80,512,905 (GRCm38)	nonsense	probably null
RF031:Blm	UTSW	7	80,512,923 (GRCm38)	small insertion	probably benign
RF031:Blm	UTSW	7	80,512,906 (GRCm38)	small insertion	probably benign
RF032:Blm	UTSW	7	80,512,930 (GRCm38)	small insertion	probably benign
RF036:Blm	UTSW	7	80,512,914 (GRCm38)	nonsense	probably null
RF044:Blm	UTSW	7	80,512,930 (GRCm38)	small insertion	probably benign
RF053:Blm	UTSW	7	80,512,921 (GRCm38)	small insertion	probably benign
RF064:Blm	UTSW	7	80,512,923 (GRCm38)	nonsense	probably null
X0061:Blm	UTSW	7	80,458,850 (GRCm38)	missense	possibly damaging	0.89

Predicted Primers

PCR Primer
(F):5'- AACTGTCCTGTGTACCGCTG -3'
(R):5'- AGATGCGTTTGCTTCACTGG -3'

Sequencing Primer
(F):5'- CCCAGTGCTCAGCTTTAGATTAG -3'
(R):5'- GCTTCACTGGCTAAAAATCCTG -3'

Posted On

2018-04-05