Mutagenetix > Incidental Mutation

Incidental Mutation 'R0980:Blm'

96993

Institutional Source

Beutler Lab

Gene Symbol

Blm

Ensembl Gene

ENSMUSG00000030528

Gene Name

Bloom syndrome, RecQ like helicase

Synonyms

MMRRC Submission

039106-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R0980 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

80104741-80184896 bp(-) (GRCm39)

Type of Mutation

splice site

DNA Base Change (assembly)

A to T at 80149706 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000127995 (fasta)

Gene Model

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

AlphaFold

O88700

Predicted Effect

probably null
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 null
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 null
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

probably null
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: 99.0%
3x: 98.0%
10x: 95.1%
20x: 89.2%

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: 46 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Ankdd1a	T	C	9: 65,424,253 (GRCm39)	H20R	probably damaging	Het
Arfgef3	T	C	10: 18,467,866 (GRCm39)	E1778G	possibly damaging	Het
Arhgef18	C	T	8: 3,439,095 (GRCm39)		probably benign	Het
Ccr6	A	G	17: 8,474,846 (GRCm39)	E17G	probably benign	Het
Cep126	T	C	9: 8,100,720 (GRCm39)	T605A	probably damaging	Het
Cnga4	C	A	7: 105,057,213 (GRCm39)	P439T	probably damaging	Het
Col11a1	G	A	3: 113,932,414 (GRCm39)	R113H	unknown	Het
Cyp2a5	A	G	7: 26,538,431 (GRCm39)		probably null	Het
D430041D05Rik	A	G	2: 104,079,690 (GRCm39)	V1131A	probably damaging	Het
Elp3	T	C	14: 65,815,402 (GRCm39)	T197A	probably damaging	Het
Etl4	A	G	2: 20,806,378 (GRCm39)	D1200G	probably damaging	Het
Gapt	G	C	13: 110,490,273 (GRCm39)	T130R	probably damaging	Het
Gprin1	T	C	13: 54,888,214 (GRCm39)	D20G	possibly damaging	Het
Hltf	T	C	3: 20,145,665 (GRCm39)	S432P	probably benign	Het
Immt	T	C	6: 71,851,310 (GRCm39)	V54A	probably benign	Het
Jhy	T	G	9: 40,856,133 (GRCm39)	Y118S	possibly damaging	Het
Kif23	C	A	9: 61,844,046 (GRCm39)	K154N	possibly damaging	Het
Krt79	T	C	15: 101,846,442 (GRCm39)	T169A	probably damaging	Het
Llgl2	A	G	11: 115,740,827 (GRCm39)	E443G	probably damaging	Het
Ltbp4	A	T	7: 27,023,587 (GRCm39)	C786S	probably damaging	Het
Mme	A	T	3: 63,247,550 (GRCm39)	E278D	probably benign	Het
Nt5c2	G	T	19: 46,887,317 (GRCm39)	Q162K	probably benign	Het
Obscn	A	G	11: 58,888,887 (GRCm39)	V2109A	possibly damaging	Het
Or5p64	GGTAG	GG	7: 107,855,229 (GRCm39)		probably benign	Het
Or8k28	T	C	2: 86,285,704 (GRCm39)	T304A	probably benign	Het
Or8k38	T	A	2: 86,488,209 (GRCm39)	I198L	probably benign	Het
Osmr	G	T	15: 6,881,921 (GRCm39)	N74K	probably benign	Het
Pes1	AGAGGAGGAGGAGGAGGA	AGAGGAGGAGGAGGA	11: 3,927,636 (GRCm39)		probably benign	Het
Pgd	A	T	4: 149,238,768 (GRCm39)		probably null	Het
Pld1	T	A	3: 28,178,724 (GRCm39)	S873T	probably damaging	Het
Polk	A	T	13: 96,620,272 (GRCm39)	C664S	probably benign	Het
Proca1	A	C	11: 78,095,773 (GRCm39)	H135P	probably benign	Het
Ptgs2	A	C	1: 149,980,061 (GRCm39)	D333A	probably damaging	Het
Rexo5	T	C	7: 119,423,035 (GRCm39)	V289A	probably damaging	Het
Rnf125	T	A	18: 21,112,117 (GRCm39)	C49*	probably null	Het
Rprd2	C	A	3: 95,673,216 (GRCm39)	R729L	probably damaging	Het
Sipa1l1	A	G	12: 82,388,994 (GRCm39)	S407G	possibly damaging	Het
Slc35a4	C	A	18: 36,815,834 (GRCm39)	N221K	probably damaging	Het
Sorcs1	T	C	19: 50,220,761 (GRCm39)	D563G	probably benign	Het
Stk39	G	T	2: 68,222,515 (GRCm39)	T183K	probably damaging	Het
Tc2n	T	A	12: 101,644,835 (GRCm39)	K264*	probably null	Het
Trim23	C	T	13: 104,324,635 (GRCm39)	R238W	probably damaging	Het
Trim66	C	A	7: 109,054,877 (GRCm39)	V1240L	probably damaging	Het
Ttn	T	C	2: 76,584,389 (GRCm39)	T13913A	probably damaging	Het
Ubap1	T	G	4: 41,379,832 (GRCm39)	C349G	probably damaging	Het
Vmn1r170	A	T	7: 23,305,759 (GRCm39)	I54F	possibly 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
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	80,162,655 (GRCm39)	small insertion	probably benign
R8774-TAIL:Blm	UTSW	7	80,162,666 (GRCm39)	small insertion	probably benign
R8774-TAIL:Blm	UTSW	7	80,162,667 (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	80,162,654 (GRCm39)	small insertion	probably benign
RF001:Blm	UTSW	7	80,162,651 (GRCm39)	small insertion	probably benign
RF002:Blm	UTSW	7	80,162,675 (GRCm39)	small insertion	probably benign
RF002:Blm	UTSW	7	80,162,653 (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'- ATCTGCCAATGGACTCCTGCCAAG -3'
(R):5'- ACTCACTGTGTGCTGCTCACTG -3'

Sequencing Primer
(F):5'- GGCATTAGGATAAAGCAGTCTTCAC -3'
(R):5'- TCCTGGTGATAGGGCACTACAG -3'

Posted On

2014-01-05