Mutagenetix > Incidental Mutation

Incidental Mutation 'RF031:Blm'

604365

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 #

RF031 (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)

CTCCTCCTCCTCCTCCTCCTCCTC to CTCCTCCTCCTCTTCCTCCTCCTCCTCCTCCTCCTC at 80162654 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: 99.8%
3x: 99.7%
10x: 99.4%
20x: 98.9%

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: 37 list
Gene	Ref	Var	Chr/Loc	Predicted Effect	Zygosity
AI837181	GCG	GCGCCG	19: 5,475,246 (GRCm39)	probably benign	Het
Cyb5r4	GGGA	GGGATGTGACAGACACACTGCCCATGGA	9: 86,922,498 (GRCm39)	probably benign	Het
Dcdc2b	GCTGC	GCTGCCAGGACTGC	4: 129,503,444 (GRCm39)	probably benign	Het
Dclre1a	CTTTGCT	C	19: 56,532,564 (GRCm39)	probably benign	Het
Dctn6	AAATCATGGCTTGCGATCT	A	8: 34,572,236 (GRCm39)	probably null	Het
Elovl5	G	T	9: 77,888,755 (GRCm39)	probably null	Het
Ermn	AACT	AACTACT	2: 57,938,078 (GRCm39)	probably benign	Het
Fbrsl1	G	GCGTGTGCTGGTC	5: 110,526,017 (GRCm39)	probably benign	Het
Fgd6	ATT	A	10: 93,880,187 (GRCm39)	probably null	Het
Flywch1	TCACTCACCCACTCCTGGTGT	TCACTCACCCACTCCTGGTGTGGGGAGGCTACGCACTCACCCACTCCTGGTGT	17: 23,981,132 (GRCm39)	probably null	Het
Gab3	TCT	TCTGCT	X: 74,043,602 (GRCm39)	probably benign	Het
Gab3	TTC	TTCATC	X: 74,043,607 (GRCm39)	probably benign	Het
Gab3	CTT	CTTATT	X: 74,043,603 (GRCm39)	probably null	Het
Gm11060	CTGTGTG	CTG	2: 104,922,385 (GRCm39)	probably null	Het
Gm5475	GGTGGAAGGAAAG	GG	15: 100,325,029 (GRCm39)	probably null	Het
Heatr3	TAT	TATTAAT	8: 88,883,085 (GRCm39)	probably benign	Het
Iqcf4	TTTCCTTTT	TTTCCTTTTCCTTTTCCTTTTCCTTTTCCTTTTCCTCTTCCTTTT	9: 106,447,814 (GRCm39)	probably benign	Het
Ivl	GCTGCTGCTGCTGC	G	3: 92,479,625 (GRCm39)	probably null	Het
Kif12	GGC	GGCCTCCACCCGGCGTGC	4: 63,089,662 (GRCm39)	probably benign	Het
L1td1	AGGAGGAGGAGGAGGAGGAGGAGGGGGAGGAGGAG	AGGAGGAGGAG	4: 98,625,026 (GRCm39)	probably benign	Het
Lca5l	CCCTGGCCCCGGCC	CCC	16: 95,960,504 (GRCm39)	probably null	Het
Loricrin	ATAGCCG	A	3: 91,989,183 (GRCm39)	probably benign	Het
Mapk7	GGGGCA	GGGGCACGGGCA	11: 61,381,060 (GRCm39)	probably benign	Het
Nf2	AAAAG	A	11: 4,779,936 (GRCm39)	probably null	Het
Nlrp3	GGGTA	G	11: 59,449,378 (GRCm39)	probably null	Het
Nolc1	CAGCAGC	CAGCAGCAGGAGCAGC	19: 46,069,810 (GRCm39)	probably benign	Het
Pdik1l	TTTT	TTTTGTTTTTGATTT	4: 134,006,685 (GRCm39)	probably null	Het
Phldb3	CGCCCCCG	C	7: 24,325,918 (GRCm39)	probably null	Het
Setd1a	GGTGGTAGT	GGTGGTAGTAGTGGTAGT	7: 127,384,483 (GRCm39)	probably benign	Het
Spmap2l	CCCCAGTCCCGCAAGGCCAG	CCCCAGTCCCGCAAGGCCAGCGATCCTACCCAGTCCCGCAAGGCCAG	5: 77,164,257 (GRCm39)	probably benign	Het
Strn	CTTACCCCAGTC	CTTACCCCAGTCCGTGCTCCCTTACCCCAGTCCGTGATCCATTACCCCAGTC	17: 78,984,706 (GRCm39)	probably null	Het
Tcof1	TTCCCAGAGATCCCCTTGGC	TTCCCAGAGATCCCCTTGGCTGCTGAGATGGGCACTATCCCAGAGATCCCCTTGGC	18: 60,966,637 (GRCm39)	probably benign	Het
Tcof1	AGC	AGCGGC	18: 60,968,817 (GRCm39)	probably benign	Het
Tedc2	AGGAACCCT	AGGAACCCTGGAACCCT	17: 24,435,213 (GRCm39)	probably benign	Het
Tmem59	T	TGTTTGTTG	4: 107,047,729 (GRCm39)	probably benign	Het
Zfhx3	C	CCGCAGCAAA	8: 109,682,730 (GRCm39)	probably benign	Het
Zfp335	TCGTCGTC	TCGTCGTCGTC	2: 164,749,383 (GRCm39)	probably benign	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	80,162,653 (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
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'- AACTGTCCTGTGTACCGCTG -3'
(R):5'- AGATGCGTTTGCTTCACTGG -3'

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

Posted On

2019-12-04