Mutagenetix > Incidental Mutation

Incidental Mutation 'RF002:Blm'

602560

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 #

RF002 (G1)

Quality Score

217.468

Status

Not validated

Chromosome

Chromosomal Location

80104741-80184896 bp(-) (GRCm39)

Type of Mutation

small insertion (4 aa in frame mutation)

DNA Base Change (assembly)

CCTCCTCCTCCTCCTCCTCCTCCT to CCTCCTCCTCCTGCTCCTCCTCCTCCTCCTCCTCCT at 80162653 bp (GRCm39)

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

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

Coding Region Coverage

1x: 99.9%
3x: 99.7%
10x: 99.4%
20x: 98.7%

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: 60 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
AI837181	CGG	CGGTGG	19: 5,475,262 (GRCm39)		probably benign	Het
AI837181	GGC	GGCTGC	19: 5,475,263 (GRCm39)		probably benign	Het
Angptl1	A	T	1: 156,684,794 (GRCm39)	Q321L	possibly damaging	Het
AY358078	T	TAGGATAATGC	14: 52,043,050 (GRCm39)		probably null	Het
Car13	T	C	3: 14,719,974 (GRCm39)	Y129H	probably damaging	Het
Cd109	TTATTTATTTAT	TTATTTATTTATGTATTTATTTAT	9: 78,619,805 (GRCm39)		probably benign	Het
Cd109	TATTTAT	TATTTATTTATTCATTTAT	9: 78,619,810 (GRCm39)		probably benign	Het
Cdh26	T	C	2: 178,108,424 (GRCm39)	C341R	probably damaging	Het
Chga	GCA	GCACCA	12: 102,527,680 (GRCm39)		probably benign	Het
Col11a1	A	T	3: 114,010,650 (GRCm39)	I1689L	unknown	Het
Dnah6	T	G	6: 73,078,872 (GRCm39)	S2364R	probably benign	Het
E4f1	CCG	CCGACG	17: 24,674,160 (GRCm39)		probably benign	Het
Fah	A	C	7: 84,238,836 (GRCm39)	N336K	probably damaging	Het
Fbxo11	A	T	17: 88,303,481 (GRCm39)	I664K		Het
Fcgbp	A	G	7: 27,789,180 (GRCm39)	D582G	probably benign	Het
Gabre	C	CCGGCTA	X: 71,313,663 (GRCm39)		probably null	Het
Garin5a	CCTGGGTCTGAGGGAGGA	CCTGGGTCTGAGGGAGGAAGGCTGGATCCTGGATAACTGGGTCTGAGGGAGGA	7: 44,149,944 (GRCm39)		probably null	Het
Gm1110	A	G	9: 26,831,936 (GRCm39)	Y72H	probably damaging	Het
Inpp5e	C	T	2: 26,298,389 (GRCm39)	A71T	possibly damaging	Het
Iqcm	C	T	8: 76,304,527 (GRCm39)	T96I	probably benign	Het
Lce1m	TGCCACCGCTGC	TGCCACCGCTGCCGCCACCGCTGC	3: 92,925,590 (GRCm39)		probably benign	Het
Lce1m	AC	ACCGCCGCTGCCCC	3: 92,925,606 (GRCm39)		probably benign	Het
Lrch1	TTGGTGGTGCTGGTGG	TTGGTGG	14: 75,185,014 (GRCm39)		probably benign	Het
Lyst	A	G	13: 13,808,948 (GRCm39)	D206G	probably benign	Het
Map4k5	A	T	12: 69,903,630 (GRCm39)	D58E	probably damaging	Het
Mapkapk2	A	G	1: 130,984,250 (GRCm39)	S251P	probably damaging	Het
Mcph1	CCTG	CCTGCTG	8: 18,702,545 (GRCm39)		probably benign	Het
Men1	T	C	19: 6,390,146 (GRCm39)	S600P	probably damaging	Het
Mllt1	C	T	17: 57,203,300 (GRCm39)	V394M	probably benign	Het
Mllt1	C	A	17: 57,203,301 (GRCm39)	M393I	possibly damaging	Het
Nacc1	T	C	8: 85,402,848 (GRCm39)	E315G	possibly damaging	Het
Nefh	GGGGACTTGGCCTC	GGGGACTTGGCCTCACCTAGGGACTTGGCCTC	11: 4,891,047 (GRCm39)		probably benign	Het
Nefh	GACTTGGCCTC	GACTTGGCCTCACCTGGGGACTTGGCCTC	11: 4,891,050 (GRCm39)		probably benign	Het
Nid2	TAACACCGCCA	TA	14: 19,801,434 (GRCm39)		probably benign	Het
Or5b122	T	A	19: 13,563,415 (GRCm39)	I206N	probably damaging	Het
Parp2	A	G	14: 51,054,843 (GRCm39)	E262G	probably damaging	Het
Pdik1l	TTT	TTTGTTTTTGTGTT	4: 134,006,686 (GRCm39)		probably null	Het
Pop1	G	A	15: 34,502,583 (GRCm39)	G90D	probably damaging	Het
Ppp3cc	T	C	14: 70,504,788 (GRCm39)	T73A	possibly damaging	Het
Prdm15	C	T	16: 97,600,829 (GRCm39)	D810N	probably damaging	Het
Prpf4b	T	A	13: 35,068,219 (GRCm39)	S349R	unknown	Het
Rassf6	TCCTGTAGAGCAATGGGGATTC	TCCTGTAGAGCAATGGGGATTCTGCCTCACTCATGGGCCTGTAGAGCAATGGGGATTC	5: 90,756,780 (GRCm39)		probably benign	Het
Rassf6	GTAGAGCAATGGGGATTC	GTAGAGCAATGGGGATTCTGCCTCACTCATGGTCCTTTAGAGCAATGGGGATTC	5: 90,756,784 (GRCm39)		probably null	Het
Sdk2	T	C	11: 113,776,078 (GRCm39)	E208G	probably benign	Het
Smurf2	G	T	11: 106,743,413 (GRCm39)	P211Q	probably benign	Het
Snx25	C	A	8: 46,569,218 (GRCm39)		probably null	Het
Spata6	T	A	4: 111,685,502 (GRCm39)	M469K	probably benign	Het
Spta1	G	T	1: 174,058,926 (GRCm39)	A1954S	possibly damaging	Het
Sry	CTGGTCGTGGAACTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGGTGGTGGTCATGGAACTGCTG	CTGGTCATGGAACTGCTG	Y: 2,662,564 (GRCm39)		probably benign	Het
Stard8	GAG	GAGTAG	X: 98,110,121 (GRCm39)		probably null	Het
Tfeb	AGC	AGCGGC	17: 48,097,027 (GRCm39)		probably benign	Het
Tlcd1	T	A	11: 78,071,020 (GRCm39)	L203Q	probably benign	Het
Tlr11	T	C	14: 50,598,682 (GRCm39)	F223L	possibly damaging	Het
Usp48	T	A	4: 137,333,106 (GRCm39)	V100D	probably damaging	Het
Vinac1	A	G	2: 128,880,714 (GRCm39)	F404S		Het
Vmn2r56	G	A	7: 12,428,757 (GRCm39)	T503I	probably benign	Het
Vps18	T	C	2: 119,127,871 (GRCm39)	L898P	probably damaging	Het
Zfp384	GCCCAGGCCCAGGCCCAGGCCCAG	GCCCAGGCCCAGTCCCAGGCCCAGGCCCAGGCCCAG	6: 125,013,434 (GRCm39)		probably benign	Het
Zfp706	T	A	15: 37,003,949 (GRCm39)	Y39F	probably benign	Het
Zhx3	T	A	2: 160,623,726 (GRCm39)	N147I	probably damaging	Het

Other mutations in Blm

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01531:Blm	APN	7	80,123,819 (GRCm39)	missense	probably damaging	1.00
IGL01658:Blm	APN	7	80,113,689 (GRCm39)	missense	probably damaging	0.98
IGL02048:Blm	APN	7	80,152,709 (GRCm39)	splice site	probably benign
IGL02060:Blm	APN	7	80,164,328 (GRCm39)	splice site	probably benign
IGL02063:Blm	APN	7	80,159,167 (GRCm39)	nonsense	probably null
IGL02102:Blm	APN	7	80,119,504 (GRCm39)	missense	probably damaging	1.00
IGL02420:Blm	APN	7	80,145,754 (GRCm39)	missense	probably damaging	1.00
IGL02452:Blm	APN	7	80,153,125 (GRCm39)	splice site	probably null
IGL02566:Blm	APN	7	80,123,944 (GRCm39)	missense	probably damaging	1.00
IGL03387:Blm	APN	7	80,143,895 (GRCm39)	missense	probably damaging	1.00
FR4304:Blm	UTSW	7	80,162,667 (GRCm39)	small insertion	probably benign
FR4304:Blm	UTSW	7	80,113,521 (GRCm39)	frame shift	probably null
FR4340:Blm	UTSW	7	80,162,658 (GRCm39)	small insertion	probably benign
FR4340:Blm	UTSW	7	80,162,655 (GRCm39)	small insertion	probably benign
FR4340:Blm	UTSW	7	80,113,515 (GRCm39)	unclassified	probably benign
FR4449:Blm	UTSW	7	80,162,656 (GRCm39)	small insertion	probably benign
FR4548:Blm	UTSW	7	80,113,517 (GRCm39)	frame shift	probably null
FR4589:Blm	UTSW	7	80,113,518 (GRCm39)	frame shift	probably null
FR4737:Blm	UTSW	7	80,113,522 (GRCm39)	frame shift	probably null
FR4737:Blm	UTSW	7	80,113,519 (GRCm39)	frame shift	probably null
FR4976:Blm	UTSW	7	80,162,655 (GRCm39)	small insertion	probably benign
FR4976:Blm	UTSW	7	80,113,515 (GRCm39)	unclassified	probably benign
R0133:Blm	UTSW	7	80,152,115 (GRCm39)	missense	possibly damaging	0.93
R0194:Blm	UTSW	7	80,114,694 (GRCm39)	unclassified	probably benign
R0526:Blm	UTSW	7	80,155,641 (GRCm39)	nonsense	probably null
R0673:Blm	UTSW	7	80,149,499 (GRCm39)	critical splice donor site	probably null
R0972:Blm	UTSW	7	80,163,118 (GRCm39)	missense	probably benign
R0980:Blm	UTSW	7	80,149,706 (GRCm39)	splice site	probably null
R1120:Blm	UTSW	7	80,131,214 (GRCm39)	missense	probably damaging	1.00
R1301:Blm	UTSW	7	80,105,165 (GRCm39)	nonsense	probably null
R1769:Blm	UTSW	7	80,163,118 (GRCm39)	missense	probably benign
R1866:Blm	UTSW	7	80,143,862 (GRCm39)	missense	probably benign	0.08
R1874:Blm	UTSW	7	80,147,166 (GRCm39)	missense	probably damaging	1.00
R1966:Blm	UTSW	7	80,162,934 (GRCm39)	missense	possibly damaging	0.86
R1991:Blm	UTSW	7	80,155,697 (GRCm39)	splice site	probably null
R2013:Blm	UTSW	7	80,152,147 (GRCm39)	missense	probably damaging	0.99
R2014:Blm	UTSW	7	80,152,147 (GRCm39)	missense	probably damaging	0.99
R2015:Blm	UTSW	7	80,152,147 (GRCm39)	missense	probably damaging	0.99
R2016:Blm	UTSW	7	80,155,674 (GRCm39)	missense	probably benign	0.26
R2103:Blm	UTSW	7	80,155,697 (GRCm39)	splice site	probably null
R2161:Blm	UTSW	7	80,131,118 (GRCm39)	splice site	probably null
R2215:Blm	UTSW	7	80,149,595 (GRCm39)	missense	possibly damaging	0.69
R3689:Blm	UTSW	7	80,162,827 (GRCm39)	missense	possibly damaging	0.56
R4049:Blm	UTSW	7	80,152,610 (GRCm39)	missense	probably benign	0.04
R4155:Blm	UTSW	7	80,162,652 (GRCm39)	small deletion	probably benign
R4695:Blm	UTSW	7	80,143,976 (GRCm39)	missense	probably damaging	1.00
R4774:Blm	UTSW	7	80,113,596 (GRCm39)	missense	probably damaging	1.00
R4833:Blm	UTSW	7	80,116,574 (GRCm39)	missense	probably benign
R4835:Blm	UTSW	7	80,159,294 (GRCm39)	missense	probably benign	0.41
R4994:Blm	UTSW	7	80,108,573 (GRCm39)	missense	probably benign	0.00
R5039:Blm	UTSW	7	80,155,621 (GRCm39)	missense	possibly damaging	0.50
R5330:Blm	UTSW	7	80,108,684 (GRCm39)	missense	possibly damaging	0.73
R5375:Blm	UTSW	7	80,162,977 (GRCm39)	missense	probably benign	0.00
R5408:Blm	UTSW	7	80,152,370 (GRCm39)	missense	probably benign	0.01
R5574:Blm	UTSW	7	80,149,521 (GRCm39)	missense	probably damaging	1.00
R5606:Blm	UTSW	7	80,110,580 (GRCm39)	splice site	probably null
R5702:Blm	UTSW	7	80,108,675 (GRCm39)	missense	probably benign	0.13
R5809:Blm	UTSW	7	80,114,592 (GRCm39)	missense	probably damaging	1.00
R6114:Blm	UTSW	7	80,163,235 (GRCm39)	missense	probably damaging	1.00
R6157:Blm	UTSW	7	80,162,733 (GRCm39)	missense	probably benign	0.18
R6163:Blm	UTSW	7	80,162,652 (GRCm39)	small deletion	probably benign
R6254:Blm	UTSW	7	80,130,090 (GRCm39)	missense	probably benign	0.04
R6266:Blm	UTSW	7	80,149,688 (GRCm39)	missense	probably benign	0.03
R6364:Blm	UTSW	7	80,144,274 (GRCm39)	nonsense	probably null
R6446:Blm	UTSW	7	80,162,652 (GRCm39)	small deletion	probably benign
R6502:Blm	UTSW	7	80,131,223 (GRCm39)	missense	probably damaging	0.98
R6700:Blm	UTSW	7	80,113,598 (GRCm39)	missense	possibly damaging	0.91
R7002:Blm	UTSW	7	80,119,501 (GRCm39)	missense	probably benign	0.00
R7105:Blm	UTSW	7	80,149,516 (GRCm39)	missense	probably benign	0.44
R7320:Blm	UTSW	7	80,105,102 (GRCm39)	nonsense	probably null
R7465:Blm	UTSW	7	80,162,863 (GRCm39)	missense	probably benign	0.02
R7561:Blm	UTSW	7	80,152,276 (GRCm39)	missense	probably damaging	0.99
R8500:Blm	UTSW	7	80,105,032 (GRCm39)	missense	probably damaging	1.00
R8543:Blm	UTSW	7	80,143,964 (GRCm39)	missense	probably damaging	0.98
R8774-TAIL:Blm	UTSW	7	80,162,667 (GRCm39)	small insertion	probably benign
R8774-TAIL:Blm	UTSW	7	80,162,655 (GRCm39)	small insertion	probably benign
R8774-TAIL:Blm	UTSW	7	80,162,666 (GRCm39)	small insertion	probably benign
R8775-TAIL:Blm	UTSW	7	80,162,679 (GRCm39)	small insertion	probably benign
R8860:Blm	UTSW	7	80,144,276 (GRCm39)	missense	probably benign	0.30
R8928:Blm	UTSW	7	80,162,652 (GRCm39)	small deletion	probably benign
R9089:Blm	UTSW	7	80,162,867 (GRCm39)	missense	probably damaging	1.00
R9363:Blm	UTSW	7	80,108,663 (GRCm39)	missense	probably damaging	1.00
RF001:Blm	UTSW	7	80,162,675 (GRCm39)	small insertion	probably benign
RF001:Blm	UTSW	7	80,162,651 (GRCm39)	small insertion	probably benign
RF001:Blm	UTSW	7	80,162,654 (GRCm39)	small insertion	probably benign
RF002:Blm	UTSW	7	80,162,675 (GRCm39)	small insertion	probably benign
RF007:Blm	UTSW	7	80,162,681 (GRCm39)	nonsense	probably null
RF016:Blm	UTSW	7	80,162,674 (GRCm39)	nonsense	probably null
RF018:Blm	UTSW	7	80,162,674 (GRCm39)	nonsense	probably null
RF027:Blm	UTSW	7	80,162,662 (GRCm39)	frame shift	probably null
RF028:Blm	UTSW	7	80,162,653 (GRCm39)	nonsense	probably null
RF031:Blm	UTSW	7	80,162,671 (GRCm39)	small insertion	probably benign
RF031:Blm	UTSW	7	80,162,654 (GRCm39)	small insertion	probably benign
RF032:Blm	UTSW	7	80,162,678 (GRCm39)	small insertion	probably benign
RF036:Blm	UTSW	7	80,162,662 (GRCm39)	nonsense	probably null
RF044:Blm	UTSW	7	80,162,678 (GRCm39)	small insertion	probably benign
RF053:Blm	UTSW	7	80,162,669 (GRCm39)	small insertion	probably benign
RF064:Blm	UTSW	7	80,162,671 (GRCm39)	nonsense	probably null
X0061:Blm	UTSW	7	80,108,598 (GRCm39)	missense	possibly damaging	0.89

Predicted Primers

PCR Primer
(F):5'- ACAACTGTCCTGTGTACCG -3'
(R):5'- ATGCGTTTGCTTCACTGGC -3'

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

Posted On

2019-12-04