Mutagenetix > Incidental Mutation

Incidental Mutation 'R2215:Blm'

241091

Institutional Source

Beutler Lab

Gene Symbol

Blm

Ensembl Gene

ENSMUSG00000030528

Gene Name

Bloom syndrome, RecQ like helicase

Synonyms

MMRRC Submission

040217-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R2215 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

80104741-80184896 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 80149595 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Histidine to Glutamine at position 671 (H671Q)

Ref Sequence

ENSEMBL: ENSMUSP00000127995 (fasta)

Gene Model

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

AlphaFold

O88700

Predicted Effect

probably benign
Transcript: ENSMUST00000081314
AA Change: H668Q

PolyPhen 2 Score 0.013 (Sensitivity: 0.96; Specificity: 0.78)

SMART Domains

Protein: ENSMUSP00000080062
Gene: ENSMUSG00000030528
AA Change: H668Q

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

possibly damaging
Transcript: ENSMUST00000170315
AA Change: H671Q

PolyPhen 2 Score 0.691 (Sensitivity: 0.86; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000127995
Gene: ENSMUSG00000030528
AA Change: H671Q

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

Meta Mutation Damage Score

0.1183

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.3%
20x: 95.3%

Validation Efficiency

100% (68/68)

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: 66 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acaca	T	A	11: 84,254,619 (GRCm39)	S1899T	probably damaging	Het
Accs	G	T	2: 93,672,243 (GRCm39)	N208K	probably benign	Het
Actn4	C	A	7: 28,618,178 (GRCm39)	V22L	possibly damaging	Het
Adam21	A	G	12: 81,607,064 (GRCm39)	S233P	probably damaging	Het
Adrm1b	G	A	3: 92,335,730 (GRCm39)	A324V	probably damaging	Het
Agmat	C	T	4: 141,476,899 (GRCm39)	R102C	probably benign	Het
Akap8l	T	C	17: 32,540,569 (GRCm39)	E608G	possibly damaging	Het
Arap2	T	C	5: 62,834,519 (GRCm39)	I788V	probably damaging	Het
Arhgef12	G	T	9: 42,917,167 (GRCm39)	H391N	probably damaging	Het
Arhgef28	G	T	13: 98,187,529 (GRCm39)	H255Q	possibly damaging	Het
Baz1a	G	A	12: 55,022,154 (GRCm39)	R43*	probably null	Het
Bcas3	T	C	11: 85,692,769 (GRCm39)	S862P	probably damaging	Het
Bmp8a	C	T	4: 123,218,911 (GRCm39)	V166I	probably benign	Het
Cep120	G	T	18: 53,860,707 (GRCm39)	P241Q	probably damaging	Het
Col14a1	G	A	15: 55,244,238 (GRCm39)	G437E	unknown	Het
Cyp2a5	T	C	7: 26,539,900 (GRCm39)	L3S	probably damaging	Het
D16Ertd472e	T	C	16: 78,342,155 (GRCm39)	T242A	probably benign	Het
Dach1	A	G	14: 98,405,917 (GRCm39)		probably null	Het
Ddx20	A	T	3: 105,587,656 (GRCm39)		probably benign	Het
Eif4enif1	A	G	11: 3,177,476 (GRCm39)	S185G	probably damaging	Het
Ep400	A	T	5: 110,841,421 (GRCm39)		probably benign	Het
Fam117b	T	A	1: 60,008,219 (GRCm39)	I351K	probably damaging	Het
Fbxo31	T	C	8: 122,293,050 (GRCm39)	I112V	probably benign	Het
Galntl5	A	T	5: 25,403,476 (GRCm39)	N149I	probably damaging	Het
Gja8	A	T	3: 96,827,218 (GRCm39)	F148Y	probably damaging	Het
Gpatch1	A	T	7: 34,993,252 (GRCm39)	L531Q	possibly damaging	Het
Gprin1	G	A	13: 54,888,046 (GRCm39)	T76M	probably damaging	Het
Htr4	T	A	18: 62,546,787 (GRCm39)	C113*	probably null	Het
Igf1r	T	A	7: 67,814,982 (GRCm39)	D294E	probably benign	Het
Kdm6b	G	A	11: 69,295,870 (GRCm39)	P799L	unknown	Het
Lat	A	T	7: 125,967,137 (GRCm39)	V139E	probably damaging	Het
Lrrc34	G	A	3: 30,697,678 (GRCm39)	R51C	probably benign	Het
Map3k1	A	G	13: 111,892,322 (GRCm39)	S978P	probably benign	Het
Masp1	T	A	16: 23,271,271 (GRCm39)	D659V	possibly damaging	Het
Mcam	A	T	9: 44,051,250 (GRCm39)	R415*	probably null	Het
Mtmr10	A	G	7: 63,987,403 (GRCm39)	T648A	probably benign	Het
Myh2	T	C	11: 67,082,563 (GRCm39)	W1378R	probably benign	Het
Nipsnap2	A	G	5: 129,816,649 (GRCm39)	E64G	probably damaging	Het
Or4a68	T	C	2: 89,270,381 (GRCm39)	M81V	probably benign	Het
Or52n4b	T	C	7: 108,144,095 (GRCm39)	L119P	probably damaging	Het
Or6c3	A	T	10: 129,309,289 (GRCm39)	I243F	probably damaging	Het
Or9s27	G	A	1: 92,516,708 (GRCm39)	V219I	probably benign	Het
Pcdhb8	T	G	18: 37,490,127 (GRCm39)	S602A	probably damaging	Het
Peg10	A	T	6: 4,756,918 (GRCm39)		probably benign	Het
Pld1	A	T	3: 28,132,542 (GRCm39)	I577F	probably benign	Het
Plekhm1	A	T	11: 103,267,811 (GRCm39)	I720N	probably damaging	Het
Ppp2r1a	A	G	17: 21,182,005 (GRCm39)		probably null	Het
Retreg3	G	T	11: 101,010,459 (GRCm39)	Y49*	probably null	Het
Rrp36	T	C	17: 46,983,746 (GRCm39)	E22G	possibly damaging	Het
Sec14l2	C	A	11: 4,059,169 (GRCm39)	A167S	probably damaging	Het
Sema5b	A	G	16: 35,480,585 (GRCm39)	T751A	probably damaging	Het
Smarcc1	C	A	9: 110,066,907 (GRCm39)		probably benign	Het
Smox	T	C	2: 131,362,190 (GRCm39)		probably null	Het
Spats2l	A	T	1: 57,985,575 (GRCm39)	T543S	possibly damaging	Het
Sppl2a	G	T	2: 126,769,754 (GRCm39)	T34K	probably benign	Het
Svep1	T	C	4: 58,138,602 (GRCm39)		probably benign	Het
Tet2	T	A	3: 133,192,362 (GRCm39)	I691F	probably benign	Het
Tnxb	T	C	17: 34,923,114 (GRCm39)	Y2566H	possibly damaging	Het
Ttn	T	C	2: 76,570,853 (GRCm39)	E26680G	probably damaging	Het
Txlna	T	C	4: 129,533,111 (GRCm39)	E139G	possibly damaging	Het
Ubap2	T	C	4: 41,196,483 (GRCm39)		probably null	Het
Ubr3	A	T	2: 69,809,661 (GRCm39)		probably null	Het
Usp37	A	C	1: 74,483,685 (GRCm39)	F844V	probably damaging	Het
Usp6nl	A	G	2: 6,429,150 (GRCm39)	D204G	probably damaging	Het
Vmn1r230	T	C	17: 21,067,684 (GRCm39)	I291T	probably benign	Het
Zfp229	T	G	17: 21,965,258 (GRCm39)	V496G	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
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
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'- CTGAAGGGTCCCTACACAGTAAG -3'
(R):5'- ACAGTTTAAAGTGTGCCGTTGG -3'

Sequencing Primer
(F):5'- GGGTCCCTACACAGTAAGAATAATG -3'
(R):5'- CGTTGGGTCTTCAGGGGAAAG -3'

Posted On

2014-10-15