Mutagenetix > Incidental Mutation

Incidental Mutation 'FR4449:Blm'

511483

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 #

FR4449 ()

Quality Score

176.468

Status

Not validated

Chromosome

Chromosomal Location

80454733-80535119 bp(-) (GRCm38)

Type of Mutation

small insertion (4 aa in frame mutation)

DNA Base Change (assembly)

CCTCCTCCTCCTCCTCCTCCTCCT to CCTCCTCCTCCTTCTCCTCCTCCTCCTCCTCCTCCT at 80512908 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: 99.7%
3x: 99.5%
10x: 98.3%
20x: 95.8%

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: 128 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2010300C02Rik	T	A	1: 37,625,035 (GRCm38)	E594V	probably benign	Homo
2010300C02Rik	C	A	1: 37,625,036 (GRCm38)	E594*	probably null	Homo
4932415D10Rik	TTCAGT	TT	10: 82,285,469 (GRCm38)		probably null	Homo
Akap9	GGTATTGCATTTCTTATCT	G	5: 3,981,214 (GRCm38)		probably benign	Homo
Amfr	C	G	8: 94,005,159 (GRCm38)	G30R	probably damaging	Homo
Anxa7	C	T	14: 20,469,411 (GRCm38)	G113E	probably damaging	Homo
Apc	AGC	AGCCAATAACGC	18: 34,282,005 (GRCm38)		probably benign	Het
Apc	AATAAAGC	AATAAAGCCGATAAAGC	18: 34,282,000 (GRCm38)		probably benign	Het
Apol6	TTT	TTTGATT	15: 77,051,443 (GRCm38)		probably null	Homo
Arid1b	CGG	CGGTGG	17: 4,995,589 (GRCm38)		probably benign	Het
B430218F22Rik	CGGCG	CGGCGATGGCG	13: 118,386,851 (GRCm38)		probably benign	Homo
Brd2	CTAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	CAAAAAAAAAAAAAAA	17: 34,116,336 (GRCm38)		probably benign	Het
Btnl10	AAG	AAGGAG	11: 58,923,928 (GRCm38)		probably benign	Homo
Cacna1a	ACC	ACCGCC	8: 84,638,723 (GRCm38)		probably benign	Het
Cacna1a	ACC	ACCCCC	8: 84,638,720 (GRCm38)		probably benign	Het
Cacna1a	ACC	ACCCCC	8: 84,638,714 (GRCm38)		probably benign	Het
Calhm1	TGGC	TGGCTGTGGCTGCGGC	19: 47,141,274 (GRCm38)		probably benign	Het
Ccdc15	C	CTTTAT	9: 37,315,158 (GRCm38)		probably null	Het
Ccdc85c	CCG	CCGACG	12: 108,274,616 (GRCm38)		probably benign	Het
Ccnk	TTCCCAC	T	12: 108,202,507 (GRCm38)		probably benign	Het
Cdhr2	AGTC	AGTCGTC	13: 54,725,924 (GRCm38)		probably benign	Homo
Cdk15	A	ATCTAAAAGG	1: 59,257,823 (GRCm38)		probably benign	Homo
Cdx1	GCTG	GCTGCTCCTG	18: 61,019,881 (GRCm38)		probably benign	Het
Cfap46	T	C	7: 139,638,795 (GRCm38)		probably benign	Homo
Cgref1	TTC	TTCGTC	5: 30,933,776 (GRCm38)		probably benign	Het
Cgref1	CTT	CTTATT	5: 30,933,778 (GRCm38)		probably null	Homo
Cluh	G	GACTGAA	11: 74,669,532 (GRCm38)		probably benign	Het
Cntnap1	AGCC	AGCCCCCGCC	11: 101,189,593 (GRCm38)		probably benign	Het
Cntnap1	AGCCCC	AGCCCCCGCCCC	11: 101,189,569 (GRCm38)		probably benign	Het
Cpne1	CCTACT	CCT	2: 156,073,502 (GRCm38)		probably benign	Homo
Cttnbp2	CTGCTG	CTGCTGTTGCTG	6: 18,367,462 (GRCm38)		probably benign	Het
Cul9	TCC	TCCGCC	17: 46,500,856 (GRCm38)		probably benign	Het
Dbr1	GGAGGA	GGAGGAAGAGGA	9: 99,583,696 (GRCm38)		probably benign	Het
Dbr1	AGGAGG	AGGAGGCGGAGG	9: 99,583,686 (GRCm38)		probably benign	Het
Dbr1	AGGAGG	AGGAGGGGGAGG	9: 99,583,674 (GRCm38)		probably benign	Het
Dhx8	G	GAGACCC	11: 101,738,207 (GRCm38)		probably benign	Het
Dhx8	CG	CGAGACAG	11: 101,738,206 (GRCm38)		probably benign	Het
Dhx8	CG	CGAGACAG	11: 101,738,194 (GRCm38)		probably benign	Homo
Dhx8	AGACCGGGACCGGGACCGGGACCGGGAC	AGACCGGGACCGGGAC	11: 101,738,190 (GRCm38)		probably benign	Het
Dhx8	AGACCG	AGACCGTGACCG	11: 101,738,184 (GRCm38)		probably benign	Homo
Dspp	CGACAGCAGTGACAGCAGCGACAGCAGCGACAGCAGTGACAGCAG	CGACAGCAGCGACAGCAGCGACAGCAGTGACAGCAG	5: 104,178,388 (GRCm38)		probably benign	Het
Dusp10	G	T	1: 184,037,056 (GRCm38)	C73F	probably damaging	Homo
Erich3	GA	GAGAA	3: 154,763,513 (GRCm38)		probably benign	Homo
Ermn	CTT	CTTGTT	2: 58,048,074 (GRCm38)		probably benign	Het
Fgd6	GGAT	G	10: 94,044,320 (GRCm38)		probably benign	Homo
G530012D18Rik	GAGAGAGAGAGAGAGAGACAGAGA	GAGAGA	1: 85,577,180 (GRCm38)		probably benign	Homo
Gar1	GCCGCCTCCGCC	GCCGCC	3: 129,830,704 (GRCm38)		probably benign	Homo
Gatad2b	AGAC	A	3: 90,341,917 (GRCm38)		probably benign	Het
Gigyf2	C	T	1: 87,428,585 (GRCm38)		probably benign	Het
Gm16519	A	AGAT	17: 70,929,338 (GRCm38)		probably benign	Homo
Gm4340	AGC	AGCGGC	10: 104,196,082 (GRCm38)		probably benign	Het
Gm4340	AGC	AGCGGC	10: 104,196,085 (GRCm38)		probably benign	Het
Gm4340	GCA	GCATCA	10: 104,196,086 (GRCm38)		probably benign	Het
Gpatch11	GG	GGCAGACG	17: 78,842,181 (GRCm38)		probably benign	Het
Gpatch11	GAAGAG	GAAGAGCAAGAG	17: 78,842,176 (GRCm38)		probably benign	Het
Gpatch11	AGGAAG	AGGAAGCGGAAG	17: 78,842,168 (GRCm38)		probably benign	Het
Hoxa10	T	A	6: 52,234,186 (GRCm38)	Q250L	possibly damaging	Homo
Igkv12-89	GCA	GCAGCAGCAACA	6: 68,835,280 (GRCm38)		probably benign	Homo
Igsf10	G	A	3: 59,319,110 (GRCm38)	R2381C	probably damaging	Homo
Il17rd	GGC	GGCAGC	14: 27,082,678 (GRCm38)		probably benign	Het
Ints5	G	A	19: 8,897,230 (GRCm38)	R851Q	probably benign	Het
Isg20l2	AGA	AGAGGA	3: 87,931,713 (GRCm38)		probably benign	Het
Kcng4	G	T	8: 119,633,519 (GRCm38)	Y39*	probably null	Homo
Kifc5b	A	C	17: 26,924,217 (GRCm38)	E321A	probably benign	Het
Klra2	TCCACAG	TCCACAGAAACCCACAG	6: 131,221,846 (GRCm38)		probably null	Homo
Kmt2b	CCTCCT	CCTCCTGCTCCT	7: 30,586,361 (GRCm38)		probably benign	Het
Kmt2b	TCCTCC	TCCTCCACCTCC	7: 30,586,366 (GRCm38)		probably benign	Het
Kmt2b	TCCTCC	TCCTCCCCCTCC	7: 30,586,369 (GRCm38)		probably benign	Het
Krt10	ACC	ACCACCTCC	11: 99,389,267 (GRCm38)		probably benign	Het
Las1l	GA	GAGAA	X: 95,940,832 (GRCm38)		probably benign	Het
Lce1m	AC	ACTGCTGCTGCCGC	3: 93,018,152 (GRCm38)		probably benign	Het
Leo1	GTACCATGCA	G	9: 75,450,573 (GRCm38)		probably benign	Het
Lkaaear1	CA	CATCTCCAGCTCTA	2: 181,697,571 (GRCm38)		probably benign	Het
Maml2	ACAGCAGCAGCAACAGCAGCAGCAGCAGCA	ACAGCAACAGCAGCAGCAGCAGCA	9: 13,621,456 (GRCm38)		probably benign	Homo
Med12l	CAG	CAGTAG	3: 59,275,963 (GRCm38)		probably null	Het
Mgat4e	GTCGTAGTCATCGT	GTCGT	1: 134,540,997 (GRCm38)		probably benign	Homo
Mn1	GCA	GCAACA	5: 111,419,710 (GRCm38)		probably benign	Het
Morn4	AGGCAGTGAG	AGGCAGTGAGTCTGGCAGTGAG	19: 42,076,109 (GRCm38)		probably benign	Het
Nat8f2	T	A	6: 85,867,686 (GRCm38)	L231F	possibly damaging	Homo
Noc2l	C	CTGA	4: 156,240,101 (GRCm38)		probably benign	Het
Nrg3	T	TAGACAC	14: 38,397,271 (GRCm38)		probably benign	Het
Olfr890	A	G	9: 38,143,188 (GRCm38)	I13V	probably benign	Homo
Piezo1	G	A	8: 122,495,569 (GRCm38)	R503W	probably damaging	Homo
Pih1d2	CTCTTGCGAGGATC	CTC	9: 50,621,627 (GRCm38)		probably null	Homo
Pik3ap1	G	GGAA	19: 41,281,946 (GRCm38)		probably benign	Het
Ppp1r3f	C	A	X: 7,560,336 (GRCm38)	G562V	probably damaging	Homo
Ptms	TTC	TTCGTC	6: 124,914,459 (GRCm38)		probably benign	Het
Ptpn23	G	T	9: 110,387,633 (GRCm38)	P1052T	probably benign	Homo
Qrich2	AACT	A	11: 116,456,199 (GRCm38)		probably benign	Homo
Raet1d	A	ATATCCTCTCTGG	10: 22,370,915 (GRCm38)		probably benign	Het
Rbm33	AGCAGCAGCAGCACCAGCCGCAGCAGCAGCA	AGCAGCAGCAGCA	5: 28,394,168 (GRCm38)		probably benign	Homo
Rrbp1	TGCTTCTCAAAGGTGGCTGCCTTGGCTTC	TGCTTC	2: 143,967,456 (GRCm38)		probably null	Het
Sbp	CAACAAAGATGCTGA	CAACAAAGATGCTGAGAACAAAGATGCTGA	17: 23,945,364 (GRCm38)		probably benign	Het
Setd1a	G	A	7: 127,785,326 (GRCm38)		probably benign	Het
Sfswap	CCCACTCAG	CCCACTCAGTCCACTCAG	5: 129,569,748 (GRCm38)		probably benign	Het
Sfswap	CCACTCAGC	CCACTCAGCTCACTCAGC	5: 129,569,749 (GRCm38)		probably benign	Het
Sh3pxd2b	T	TGTCTGC	11: 32,423,065 (GRCm38)		probably benign	Homo
Six3	CGG	CGGGGG	17: 85,621,362 (GRCm38)		probably benign	Het
Slc12a1	C	CTTTGGCCACAACACG	2: 125,154,216 (GRCm38)		probably benign	Homo
Slc26a8	CTCTCTG	C	17: 28,638,316 (GRCm38)		probably benign	Het
Srebf2	G	T	15: 82,185,335 (GRCm38)	A693S	probably damaging	Homo
Sry	ACTG	ACTGCTG	Y: 2,662,818 (GRCm38)		probably benign	Het
Sry	TGCTG	TGCTGCTG	Y: 2,662,832 (GRCm38)		probably benign	Homo
Ston1	G	A	17: 88,635,525 (GRCm38)	V120M	probably benign	Homo
Supt20	CAGCAG	CAGCAGGAGCAG	3: 54,727,649 (GRCm38)		probably benign	Het
Tbl3	TG	TGTGG	17: 24,702,544 (GRCm38)		probably benign	Homo
Tctn3	AG	AGAAGCCG	19: 40,607,202 (GRCm38)		probably benign	Het
Tesk1	CCC	CCCACC	4: 43,447,002 (GRCm38)		probably benign	Homo
Tmc2	T	G	2: 130,240,196 (GRCm38)	V433G	probably damaging	Het
Tmprss13	G	A	9: 45,328,558 (GRCm38)	A55T	unknown	Het
Tnfaip8	ACACACACTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTC	AC	18: 50,046,839 (GRCm38)		probably null	Homo
Tob1	AGC	AGCCGC	11: 94,214,475 (GRCm38)		probably benign	Het
Tob1	CAG	CAGAAG	11: 94,214,468 (GRCm38)		probably benign	Het
Tpsab1	TTGCACCTCCT	TT	17: 25,343,782 (GRCm38)		probably benign	Homo
Triobp	GTC	GTCTTC	15: 78,993,389 (GRCm38)		probably benign	Het
Ubtf	CCT	CCTACT	11: 102,306,948 (GRCm38)		probably null	Het
Vps13b	G	T	15: 35,846,957 (GRCm38)	A2629S	probably damaging	Homo
Xpnpep3	G	C	15: 81,427,422 (GRCm38)	D110H	possibly damaging	Het
Zc3h13	CGAGATGTG	CGAGATGTGTGAGATGTG	14: 75,323,601 (GRCm38)		probably null	Homo
Zfhx3	GCAACAGCA	GCAACAGCAACAACAGCA	8: 108,956,094 (GRCm38)		probably benign	Homo
Zfp26	C	A	9: 20,438,546 (GRCm38)	A241S	probably benign	Homo
Zfp335	CTC	CTCATC	2: 164,907,477 (GRCm38)		probably benign	Het
Zfp335	CTCT	CTCTTCT	2: 164,907,483 (GRCm38)		probably benign	Het
Zfp598	ACCACC	ACCACCTCCACC	17: 24,680,776 (GRCm38)		probably benign	Het
Zfp598	ACCACC	ACCACCCCCACC	17: 24,680,785 (GRCm38)		probably benign	Het
Zfp831	TCC	TCCACC	2: 174,645,471 (GRCm38)		probably benign	Het
Zfp831	CTC	CTCGTC	2: 174,645,482 (GRCm38)		probably benign	Het
Zfp978	G	T	4: 147,390,944 (GRCm38)	S316I	probably benign	Het

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
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	80,512,907 (GRCm38)	small insertion	probably benign
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	80,512,907 (GRCm38)	small insertion	probably benign
R8774-TAIL:Blm	UTSW	7	80,512,918 (GRCm38)	small insertion	probably benign
R8774-TAIL:Blm	UTSW	7	80,512,919 (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	80,512,906 (GRCm38)	small insertion	probably benign
RF001:Blm	UTSW	7	80,512,903 (GRCm38)	small insertion	probably benign
RF002:Blm	UTSW	7	80,512,927 (GRCm38)	small insertion	probably benign
RF002:Blm	UTSW	7	80,512,905 (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'- ATGCGTTTGCTTCACTGGC -3'

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

Posted On

2018-04-05