Mutagenetix > Incidental Mutation

Incidental Mutation 'R7465:Blm'

578707

Institutional Source

Beutler Lab

Gene Symbol

Blm

Ensembl Gene

ENSMUSG00000030528

Gene Name

Bloom syndrome, RecQ like helicase

Synonyms

MMRRC Submission

045539-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R7465 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

80454733-80535119 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 80513115 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Serine to Proline at position 163 (S163P)

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: S160P

PolyPhen 2 Score 0.024 (Sensitivity: 0.95; Specificity: 0.81)

SMART Domains

Protein: ENSMUSP00000080062
Gene: ENSMUSG00000030528
AA Change: S160P

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
AA Change: S163P

PolyPhen 2 Score 0.024 (Sensitivity: 0.95; Specificity: 0.81)

SMART Domains

Protein: ENSMUSP00000127995
Gene: ENSMUSG00000030528
AA Change: S163P

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: 100.0%
3x: 100.0%
10x: 99.7%
20x: 99.0%

Validation Efficiency

100% (59/59)

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: 56 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Agtr1a	A	T	13: 30,381,981 (GRCm38)	D343V	probably benign	Het
Anks1	G	A	17: 28,054,323 (GRCm38)	R972Q	possibly damaging	Het
Atp2a2	T	C	5: 122,461,700 (GRCm38)	K543E	probably benign	Het
Atp8b5	G	A	4: 43,271,269 (GRCm38)	V4I	probably benign	Het
Bcar3	A	T	3: 122,523,230 (GRCm38)	N617Y	probably benign	Het
Cbx3	A	G	6: 51,478,530 (GRCm38)	D87G	probably benign	Het
Celsr1	A	G	15: 86,033,392 (GRCm38)	S127P	probably benign	Het
Cndp1	A	T	18: 84,619,541 (GRCm38)	M356K	probably damaging	Het
Cnn2	G	A	10: 79,992,527 (GRCm38)	E113K	probably damaging	Het
Col17a1	T	A	19: 47,668,105 (GRCm38)	R573*	probably null	Het
Cttnbp2	T	A	6: 18,501,992 (GRCm38)	E49V	probably damaging	Het
Dynlrb2	T	A	8: 116,514,957 (GRCm38)	V80E	possibly damaging	Het
Ehbp1	A	G	11: 22,138,001 (GRCm38)	V386A	probably benign	Het
Elfn1	C	T	5: 139,972,087 (GRCm38)	P282L	probably benign	Het
Fam69a	T	C	5: 107,909,684 (GRCm38)	D336G	probably damaging	Het
Fan1	G	A	7: 64,353,638 (GRCm38)	T812I	probably benign	Het
Fan1	T	A	7: 64,372,486 (GRCm38)	N340Y	probably damaging	Het
Fat1	G	A	8: 45,044,152 (GRCm38)	V4225I	probably benign	Het
Frem1	A	G	4: 82,914,835 (GRCm38)	C1873R	probably benign	Het
Fsd1l	T	C	4: 53,647,755 (GRCm38)	I66T	probably benign	Het
Gabrr1	C	A	4: 33,146,970 (GRCm38)	D52E	probably benign	Het
Il18rap	T	C	1: 40,543,089 (GRCm38)	L390P	probably damaging	Het
Il27ra	T	A	8: 84,039,612 (GRCm38)	D181V	probably benign	Het
Irgq	C	A	7: 24,534,409 (GRCm38)	H558Q	probably damaging	Het
Itsn2	C	T	12: 4,706,983 (GRCm38)	Q1358*	probably null	Het
Kmt2c	C	T	5: 25,302,849 (GRCm38)	G3197S	probably damaging	Het
Lrrk2	A	G	15: 91,767,340 (GRCm38)	Y1733C	probably damaging	Het
Mapk7	G	A	11: 61,490,453 (GRCm38)	A510V	probably damaging	Het
Mtch1	A	T	17: 29,332,724 (GRCm38)	C385S	probably benign	Het
Nfib	A	G	4: 82,353,521 (GRCm38)		probably null	Het
Nostrin	C	T	2: 69,185,507 (GRCm38)	T448M	possibly damaging	Het
Olfr1066	A	G	2: 86,455,806 (GRCm38)	V155A	probably benign	Het
Olfr1255	T	C	2: 89,816,536 (GRCm38)	L64P	probably damaging	Het
Olfr1436	T	C	19: 12,298,437 (GRCm38)	I232V	probably benign	Het
Olfr1441	T	A	19: 12,423,145 (GRCm38)	Y279N	probably damaging	Het
Olfr533	T	A	7: 140,466,798 (GRCm38)	V199D	probably damaging	Het
Olfr670	A	G	7: 104,959,917 (GRCm38)	Y272H	probably benign	Het
Pcdha2	T	C	18: 36,940,330 (GRCm38)	V338A	probably damaging	Het
Pcdhgc3	A	G	18: 37,807,745 (GRCm38)	T400A	probably benign	Het
Piezo2	C	T	18: 63,012,723 (GRCm38)	S2710N	probably benign	Het
Ppp4r1	T	A	17: 65,831,020 (GRCm38)	Y591*	probably null	Het
Ptpn18	G	A	1: 34,473,364 (GRCm38)	D417N	possibly damaging	Het
Rab42	T	C	4: 132,302,614 (GRCm38)	E99G	possibly damaging	Het
Rd3l	A	T	12: 111,979,482 (GRCm38)	W188R	probably damaging	Het
Sap30bp	A	G	11: 115,951,968 (GRCm38)	D89G	probably benign	Het
Sptbn4	T	C	7: 27,366,689 (GRCm38)	T1985A	probably benign	Het
Tec	T	C	5: 72,773,880 (GRCm38)	Y247C	probably damaging	Het
Tek	G	A	4: 94,827,826 (GRCm38)		probably null	Het
Tex14	T	C	11: 87,514,430 (GRCm38)	S723P	possibly damaging	Het
Thumpd3	T	A	6: 113,047,631 (GRCm38)	L62Q	probably damaging	Het
Tlr12	A	T	4: 128,616,170 (GRCm38)	D762E	probably damaging	Het
Tmem94	G	T	11: 115,786,256 (GRCm38)	R118L	possibly damaging	Het
Txndc16	T	A	14: 45,165,388 (GRCm38)	I316F	probably damaging	Het
Vamp1	T	C	6: 125,218,575 (GRCm38)	S2P	unknown	Het
Vmn1r211	T	A	13: 22,851,916 (GRCm38)	M194L	probably benign	Het
Zfp874a	T	A	13: 67,442,257 (GRCm38)	Q436L	probably damaging	Het

Other mutations in Blm

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01531:Blm	APN	7	80,474,071 (GRCm38)	missense	probably damaging	1.00
IGL01658:Blm	APN	7	80,463,941 (GRCm38)	missense	probably damaging	0.98
IGL02048:Blm	APN	7	80,502,961 (GRCm38)	splice site	probably benign
IGL02060:Blm	APN	7	80,514,580 (GRCm38)	splice site	probably benign
IGL02063:Blm	APN	7	80,509,419 (GRCm38)	nonsense	probably null
IGL02102:Blm	APN	7	80,469,756 (GRCm38)	missense	probably damaging	1.00
IGL02420:Blm	APN	7	80,496,006 (GRCm38)	missense	probably damaging	1.00
IGL02452:Blm	APN	7	80,503,377 (GRCm38)	splice site	probably null
IGL02566:Blm	APN	7	80,474,196 (GRCm38)	missense	probably damaging	1.00
IGL03387:Blm	APN	7	80,494,147 (GRCm38)	missense	probably damaging	1.00
FR4304:Blm	UTSW	7	80,512,919 (GRCm38)	small insertion	probably benign
FR4304:Blm	UTSW	7	80,463,773 (GRCm38)	frame shift	probably null
FR4340:Blm	UTSW	7	80,512,910 (GRCm38)	small insertion	probably benign
FR4340:Blm	UTSW	7	80,512,907 (GRCm38)	small insertion	probably benign
FR4340:Blm	UTSW	7	80,463,767 (GRCm38)	unclassified	probably benign
FR4449:Blm	UTSW	7	80,512,908 (GRCm38)	small insertion	probably benign
FR4548:Blm	UTSW	7	80,463,769 (GRCm38)	frame shift	probably null
FR4589:Blm	UTSW	7	80,463,770 (GRCm38)	frame shift	probably null
FR4737:Blm	UTSW	7	80,463,774 (GRCm38)	frame shift	probably null
FR4737:Blm	UTSW	7	80,463,771 (GRCm38)	frame shift	probably null
FR4976:Blm	UTSW	7	80,512,907 (GRCm38)	small insertion	probably benign
FR4976:Blm	UTSW	7	80,463,767 (GRCm38)	unclassified	probably benign
R0133:Blm	UTSW	7	80,502,367 (GRCm38)	missense	possibly damaging	0.93
R0194:Blm	UTSW	7	80,464,946 (GRCm38)	unclassified	probably benign
R0526:Blm	UTSW	7	80,505,893 (GRCm38)	nonsense	probably null
R0673:Blm	UTSW	7	80,499,751 (GRCm38)	critical splice donor site	probably null
R0972:Blm	UTSW	7	80,513,370 (GRCm38)	missense	probably benign
R0980:Blm	UTSW	7	80,499,958 (GRCm38)	splice site	probably null
R1120:Blm	UTSW	7	80,481,466 (GRCm38)	missense	probably damaging	1.00
R1301:Blm	UTSW	7	80,455,417 (GRCm38)	nonsense	probably null
R1769:Blm	UTSW	7	80,513,370 (GRCm38)	missense	probably benign
R1866:Blm	UTSW	7	80,494,114 (GRCm38)	missense	probably benign	0.08
R1874:Blm	UTSW	7	80,497,418 (GRCm38)	missense	probably damaging	1.00
R1966:Blm	UTSW	7	80,513,186 (GRCm38)	missense	possibly damaging	0.86
R1991:Blm	UTSW	7	80,505,949 (GRCm38)	splice site	probably null
R2013:Blm	UTSW	7	80,502,399 (GRCm38)	missense	probably damaging	0.99
R2014:Blm	UTSW	7	80,502,399 (GRCm38)	missense	probably damaging	0.99
R2015:Blm	UTSW	7	80,502,399 (GRCm38)	missense	probably damaging	0.99
R2016:Blm	UTSW	7	80,505,926 (GRCm38)	missense	probably benign	0.26
R2103:Blm	UTSW	7	80,505,949 (GRCm38)	splice site	probably null
R2161:Blm	UTSW	7	80,481,370 (GRCm38)	splice site	probably null
R2215:Blm	UTSW	7	80,499,847 (GRCm38)	missense	possibly damaging	0.69
R3689:Blm	UTSW	7	80,513,079 (GRCm38)	missense	possibly damaging	0.56
R4049:Blm	UTSW	7	80,502,862 (GRCm38)	missense	probably benign	0.04
R4155:Blm	UTSW	7	80,512,904 (GRCm38)	small deletion	probably benign
R4695:Blm	UTSW	7	80,494,228 (GRCm38)	missense	probably damaging	1.00
R4774:Blm	UTSW	7	80,463,848 (GRCm38)	missense	probably damaging	1.00
R4833:Blm	UTSW	7	80,466,826 (GRCm38)	missense	probably benign
R4835:Blm	UTSW	7	80,509,546 (GRCm38)	missense	probably benign	0.41
R4994:Blm	UTSW	7	80,458,825 (GRCm38)	missense	probably benign	0.00
R5039:Blm	UTSW	7	80,505,873 (GRCm38)	missense	possibly damaging	0.50
R5330:Blm	UTSW	7	80,458,936 (GRCm38)	missense	possibly damaging	0.73
R5375:Blm	UTSW	7	80,513,229 (GRCm38)	missense	probably benign	0.00
R5408:Blm	UTSW	7	80,502,622 (GRCm38)	missense	probably benign	0.01
R5574:Blm	UTSW	7	80,499,773 (GRCm38)	missense	probably damaging	1.00
R5606:Blm	UTSW	7	80,460,832 (GRCm38)	splice site	probably null
R5702:Blm	UTSW	7	80,458,927 (GRCm38)	missense	probably benign	0.13
R5809:Blm	UTSW	7	80,464,844 (GRCm38)	missense	probably damaging	1.00
R6114:Blm	UTSW	7	80,513,487 (GRCm38)	missense	probably damaging	1.00
R6157:Blm	UTSW	7	80,512,985 (GRCm38)	missense	probably benign	0.18
R6163:Blm	UTSW	7	80,512,904 (GRCm38)	small deletion	probably benign
R6254:Blm	UTSW	7	80,480,342 (GRCm38)	missense	probably benign	0.04
R6266:Blm	UTSW	7	80,499,940 (GRCm38)	missense	probably benign	0.03
R6364:Blm	UTSW	7	80,494,526 (GRCm38)	nonsense	probably null
R6446:Blm	UTSW	7	80,512,904 (GRCm38)	small deletion	probably benign
R6502:Blm	UTSW	7	80,481,475 (GRCm38)	missense	probably damaging	0.98
R6700:Blm	UTSW	7	80,463,850 (GRCm38)	missense	possibly damaging	0.91
R7002:Blm	UTSW	7	80,469,753 (GRCm38)	missense	probably benign	0.00
R7105:Blm	UTSW	7	80,499,768 (GRCm38)	missense	probably benign	0.44
R7320:Blm	UTSW	7	80,455,354 (GRCm38)	nonsense	probably null
R7561:Blm	UTSW	7	80,502,528 (GRCm38)	missense	probably damaging	0.99
R8500:Blm	UTSW	7	80,455,284 (GRCm38)	missense	probably damaging	1.00
R8543:Blm	UTSW	7	80,494,216 (GRCm38)	missense	probably damaging	0.98
R8774-TAIL:Blm	UTSW	7	80,512,907 (GRCm38)	small insertion	probably benign
R8774-TAIL:Blm	UTSW	7	80,512,918 (GRCm38)	small insertion	probably benign
R8774-TAIL:Blm	UTSW	7	80,512,919 (GRCm38)	small insertion	probably benign
R8775-TAIL:Blm	UTSW	7	80,512,931 (GRCm38)	small insertion	probably benign
R8860:Blm	UTSW	7	80,494,528 (GRCm38)	missense	probably benign	0.30
R8928:Blm	UTSW	7	80,512,904 (GRCm38)	small deletion	probably benign
R9089:Blm	UTSW	7	80,513,119 (GRCm38)	missense	probably damaging	1.00
R9363:Blm	UTSW	7	80,458,915 (GRCm38)	missense	probably damaging	1.00
RF001:Blm	UTSW	7	80,512,927 (GRCm38)	small insertion	probably benign
RF001:Blm	UTSW	7	80,512,906 (GRCm38)	small insertion	probably benign
RF001:Blm	UTSW	7	80,512,903 (GRCm38)	small insertion	probably benign
RF002:Blm	UTSW	7	80,512,927 (GRCm38)	small insertion	probably benign
RF002:Blm	UTSW	7	80,512,905 (GRCm38)	small insertion	probably benign
RF007:Blm	UTSW	7	80,512,933 (GRCm38)	nonsense	probably null
RF016:Blm	UTSW	7	80,512,926 (GRCm38)	nonsense	probably null
RF018:Blm	UTSW	7	80,512,926 (GRCm38)	nonsense	probably null
RF027:Blm	UTSW	7	80,512,914 (GRCm38)	frame shift	probably null
RF028:Blm	UTSW	7	80,512,905 (GRCm38)	nonsense	probably null
RF031:Blm	UTSW	7	80,512,923 (GRCm38)	small insertion	probably benign
RF031:Blm	UTSW	7	80,512,906 (GRCm38)	small insertion	probably benign
RF032:Blm	UTSW	7	80,512,930 (GRCm38)	small insertion	probably benign
RF036:Blm	UTSW	7	80,512,914 (GRCm38)	nonsense	probably null
RF044:Blm	UTSW	7	80,512,930 (GRCm38)	small insertion	probably benign
RF053:Blm	UTSW	7	80,512,921 (GRCm38)	small insertion	probably benign
RF064:Blm	UTSW	7	80,512,923 (GRCm38)	nonsense	probably null
X0061:Blm	UTSW	7	80,458,850 (GRCm38)	missense	possibly damaging	0.89

Predicted Primers

PCR Primer
(F):5'- TAAATCCACTTGCAGGCATTCG -3'
(R):5'- CAGGCAAAGATTGAAGGCTTC -3'

Sequencing Primer
(F):5'- TGCAGGCATTCGGGGGAG -3'
(R):5'- ACATTTCCCTGGAAGGCAG -3'

Posted On

2019-10-07