Mutagenetix > Incidental Mutation

Incidental Mutation 'R8500:Blm'

658470

Institutional Source

Beutler Lab

Gene Symbol

Blm

Ensembl Gene

ENSMUSG00000030528

Gene Name

Bloom syndrome, RecQ like helicase

Synonyms

MMRRC Submission

067942-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R8500 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

80454733-80535119 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 80455284 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Proline at position 1412 (L1412P)

Ref Sequence

ENSEMBL: ENSMUSP00000127995 (fasta)

Gene Model

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

AlphaFold

O88700

Predicted Effect

probably damaging
Transcript: ENSMUST00000081314
AA Change: L1409P

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000080062
Gene: ENSMUSG00000030528
AA Change: L1409P

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 damaging
Transcript: ENSMUST00000170315
AA Change: L1412P

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000127995
Gene: ENSMUSG00000030528
AA Change: L1412P

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 benign
Transcript: ENSMUST00000206989

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.8%
20x: 99.2%

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: 50 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
5031439G07Rik	C	T	15: 84,987,635 (GRCm38)	S56N	probably benign	Het
Atg16l2	T	G	7: 101,290,266 (GRCm38)	D542A	probably damaging	Het
Cdc37	T	C	9: 21,140,801 (GRCm38)	D314G	probably damaging	Het
Cela1	T	A	15: 100,675,332 (GRCm38)	M39L	probably benign	Het
Col12a1	T	A	9: 79,609,851 (GRCm38)	D2849V	probably damaging	Het
Fam53c	A	G	18: 34,768,801 (GRCm38)	E257G	probably damaging	Het
Fmo9	A	T	1: 166,674,470 (GRCm38)	N144K	probably damaging	Het
Gabrd	T	A	4: 155,385,691 (GRCm38)	M354L	probably benign	Het
Gm5773	A	T	3: 93,773,528 (GRCm38)	D169V	probably benign	Het
Gria2	A	T	3: 80,692,467 (GRCm38)	F703L	probably damaging	Het
Grm3	A	T	5: 9,511,726 (GRCm38)	I708N	probably benign	Het
Hlcs	G	A	16: 94,262,758 (GRCm38)	P481L	possibly damaging	Het
Ifi206	T	C	1: 173,486,745 (GRCm38)	Y43C		Het
Igf2r	A	G	17: 12,709,441 (GRCm38)	L1005P	probably damaging	Het
Ighv2-6-8	T	C	12: 113,796,214 (GRCm38)	N92D	possibly damaging	Het
Invs	A	G	4: 48,422,109 (GRCm38)	K914E	probably damaging	Het
Iqsec3	T	C	6: 121,412,854 (GRCm38)		probably benign	Het
Klra6	T	C	6: 130,022,697 (GRCm38)	T103A	probably benign	Het
Lipo5	C	T	19: 33,464,449 (GRCm38)		probably null	Het
Llgl1	T	C	11: 60,704,983 (GRCm38)		probably null	Het
Lonrf1	T	C	8: 36,231,138 (GRCm38)	E402G	probably benign	Het
Lrp1b	T	A	2: 41,506,779 (GRCm38)	Y311F	probably benign	Het
Lrrc8a	T	A	2: 30,256,196 (GRCm38)	W341R	possibly damaging	Het
Lrriq1	A	G	10: 103,046,155 (GRCm38)	I117T		Het
Mmp9	T	C	2: 164,953,566 (GRCm38)	V668A	possibly damaging	Het
Naip5	A	C	13: 100,222,712 (GRCm38)	M672R	probably damaging	Het
Ncam1	A	T	9: 49,520,145 (GRCm38)	L664Q	probably damaging	Het
Nol4l	T	C	2: 153,436,346 (GRCm38)	D234G	probably damaging	Het
Olfr1101	T	C	2: 86,988,478 (GRCm38)	K233E	probably damaging	Het
Oscp1	T	A	4: 126,077,410 (GRCm38)	H170Q	possibly damaging	Het
Pard3	T	A	8: 127,460,303 (GRCm38)	M1021K	probably damaging	Het
Pkd1l2	T	A	8: 117,047,563 (GRCm38)		probably null	Het
Plcxd2	T	C	16: 45,980,586 (GRCm38)	K92E	probably damaging	Het
Pqlc2	A	G	4: 139,300,129 (GRCm38)		probably benign	Het
Ptpdc1	A	T	13: 48,586,283 (GRCm38)	C557*	probably null	Het
Robo2	G	A	16: 73,948,340 (GRCm38)	T849I	probably damaging	Het
Rp1	A	T	1: 4,346,590 (GRCm38)	I1433N	possibly damaging	Het
Scarb1	A	G	5: 125,294,163 (GRCm38)	S282P	probably damaging	Het
Schip1	G	T	3: 68,494,613 (GRCm38)	G36C	probably damaging	Het
Sf3a1	T	A	11: 4,175,039 (GRCm38)	S357T	probably benign	Het
Sh3glb2	A	T	2: 30,359,204 (GRCm38)	M1K	probably null	Het
Slc1a3	T	C	15: 8,642,369 (GRCm38)	T368A	probably damaging	Het
Taf11	A	T	17: 27,902,620 (GRCm38)	I138N	probably damaging	Het
Tnfaip8l1	C	T	17: 56,171,749 (GRCm38)	A13V	probably damaging	Het
Trav6-2	T	G	14: 52,667,635 (GRCm38)	F38V	probably benign	Het
Vmn2r73	A	G	7: 85,870,430 (GRCm38)	V440A	probably benign	Het
Zfp292	A	G	4: 34,826,691 (GRCm38)		probably null	Het
Zfp429	A	T	13: 67,390,709 (GRCm38)	C205*	probably null	Het
Zfp735	C	G	11: 73,710,985 (GRCm38)	L252V	possibly damaging	Het
Zfyve26	A	T	12: 79,287,680 (GRCm38)	L188Q	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
R7465:Blm	UTSW	7	80,513,115 (GRCm38)	missense	probably benign	0.02
R7561:Blm	UTSW	7	80,502,528 (GRCm38)	missense	probably damaging	0.99
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'- GGCCACTACATGTGCAGTAG -3'
(R):5'- TCTCCTGGCAAGTTAACAGACAAG -3'

Sequencing Primer
(F):5'- TGCTGTAACAAGACTAACAG -3'
(R):5'- ACAGACAAGATTATTAACTTCGTCTC -3'

Posted On

2021-01-18