Mutagenetix > Incidental Mutation

Incidental Mutation 'R3689:Blm'

269668

Institutional Source

Beutler Lab

Gene Symbol

Blm

Ensembl Gene

ENSMUSG00000030528

Gene Name

Bloom syndrome, RecQ like helicase

Synonyms

MMRRC Submission

040684-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R3689 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

80104741-80184896 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to C at 80162827 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Proline to Alanine at position 175 (P175A)

Ref Sequence

ENSEMBL: ENSMUSP00000127995 (fasta)

Gene Model

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

AlphaFold

O88700

Predicted Effect

possibly damaging
Transcript: ENSMUST00000081314
AA Change: P172A

PolyPhen 2 Score 0.555 (Sensitivity: 0.88; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000080062
Gene: ENSMUSG00000030528
AA Change: P172A

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

possibly damaging
Transcript: ENSMUST00000170315
AA Change: P175A

PolyPhen 2 Score 0.555 (Sensitivity: 0.88; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000127995
Gene: ENSMUSG00000030528
AA Change: P175A

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

0.1795

Coding Region Coverage

1x: 99.1%
3x: 98.6%
10x: 97.3%
20x: 95.2%

Validation Efficiency

100% (53/53)

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: 51 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adcy2	A	T	13: 68,779,088 (GRCm39)	L984Q	probably damaging	Het
Atg16l1	T	C	1: 87,713,626 (GRCm39)	V427A	probably damaging	Het
Bclaf1	C	T	10: 20,201,143 (GRCm39)	T423I	possibly damaging	Het
Bpifb1	A	G	2: 154,051,819 (GRCm39)	D208G	probably benign	Het
Cdc42ep1	T	C	15: 78,731,629 (GRCm39)	S25P	probably benign	Het
Cep162	G	A	9: 87,107,747 (GRCm39)	Q548*	probably null	Het
Chchd10	T	C	10: 75,771,835 (GRCm39)		probably benign	Het
Cog3	T	C	14: 75,991,878 (GRCm39)	M1V	probably null	Het
Dcx	T	C	X: 142,660,240 (GRCm39)	E268G	possibly damaging	Het
Erich2	T	C	2: 70,371,097 (GRCm39)	V419A	unknown	Het
Fam53c	A	G	18: 34,903,886 (GRCm39)	D386G	probably damaging	Het
Fgd2	A	G	17: 29,597,924 (GRCm39)	T620A	probably benign	Het
G930045G22Rik	A	T	6: 50,823,535 (GRCm39)		noncoding transcript	Het
Grpel1	G	A	5: 36,626,769 (GRCm39)		probably null	Het
Map3k15	T	A	X: 158,905,568 (GRCm39)	N1295K	possibly damaging	Het
Mideas	C	T	12: 84,203,245 (GRCm39)	G886S	probably benign	Het
Mrpl44	T	A	1: 79,757,366 (GRCm39)	Y270*	probably null	Het
Mtss1	A	G	15: 58,825,385 (GRCm39)	S272P	probably damaging	Het
Myo9b	G	A	8: 71,786,981 (GRCm39)	R721Q	probably benign	Het
N4bp1	C	T	8: 87,587,184 (GRCm39)	D585N	probably damaging	Het
Napb	T	C	2: 148,544,977 (GRCm39)		probably null	Het
Nexmif	A	T	X: 103,131,213 (GRCm39)	Y235N	probably damaging	Het
Niban1	A	G	1: 151,579,447 (GRCm39)		probably null	Het
Nms	T	C	1: 38,986,075 (GRCm39)		probably benign	Het
Nsun2	A	G	13: 69,760,456 (GRCm39)	N45D	probably damaging	Het
Or4c116	T	A	2: 88,942,386 (GRCm39)	I157L	possibly damaging	Het
Pak6	C	T	2: 118,523,921 (GRCm39)	Q359*	probably null	Het
Pcdhb12	C	T	18: 37,569,127 (GRCm39)	A91V	probably benign	Het
Pde11a	T	A	2: 76,121,510 (GRCm39)	K357I	probably damaging	Het
Piwil4	T	C	9: 14,637,259 (GRCm39)	T352A	probably damaging	Het
Plscr1l1	A	C	9: 92,234,673 (GRCm39)	N60T	probably damaging	Het
Sec31a	T	A	5: 100,530,766 (GRCm39)	D239V	probably damaging	Het
Slc13a4	T	C	6: 35,245,845 (GRCm39)	N600S	possibly damaging	Het
Smc1b	T	A	15: 85,001,464 (GRCm39)		probably benign	Het
Spatc1	A	T	15: 76,152,495 (GRCm39)	K42*	probably null	Het
Sprr2j-ps	A	G	3: 92,326,290 (GRCm39)	H55R	probably benign	Het
Srsf9	A	G	5: 115,465,387 (GRCm39)	D7G	probably benign	Het
Stt3a	T	C	9: 36,670,618 (GRCm39)	Y51C	probably damaging	Het
Taf5	A	G	19: 47,067,224 (GRCm39)	K519E	probably damaging	Het
Taf7l	A	T	X: 133,365,074 (GRCm39)	I449K	probably damaging	Het
Tnk1	C	A	11: 69,746,425 (GRCm39)	D263Y	probably damaging	Het
Ttc21b	T	A	2: 66,054,488 (GRCm39)	I714F	probably benign	Het
Ttn	C	G	2: 76,629,588 (GRCm39)	W14284C	probably damaging	Het
Txn1	T	C	4: 57,950,846 (GRCm39)	D61G	probably benign	Het
Ugcg	T	C	4: 59,211,883 (GRCm39)	V83A	probably benign	Het
Ulk3	T	C	9: 57,501,077 (GRCm39)	V348A	probably benign	Het
Wdr93	A	G	7: 79,421,333 (GRCm39)	T409A	possibly damaging	Het
Wfikkn1	A	G	17: 26,097,692 (GRCm39)	C211R	probably damaging	Het
Zap70	T	C	1: 36,820,493 (GRCm39)	C563R	probably damaging	Het
Zc3h12c	C	T	9: 52,027,256 (GRCm39)	R721H	probably benign	Het
Zfp169	A	G	13: 48,660,377 (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
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'- TGTCAATGCAGATCACATCCC -3'
(R):5'- GTACAGACTGCTCAGGACAC -3'

Sequencing Primer
(F):5'- GCAGATCACATCCCTGCTCAG -3'
(R):5'- TACAGACTGCTCAGGACACTTTGTG -3'

Posted On

2015-02-19