Mutagenetix > Incidental Mutation

Incidental Mutation 'R1301:Blm'

158371

Institutional Source

Beutler Lab

Gene Symbol

Blm

Ensembl Gene

ENSMUSG00000030528

Gene Name

Bloom syndrome, RecQ like helicase

Synonyms

MMRRC Submission

039367-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R1301 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

80454733-80535119 bp(-) (GRCm38)

Type of Mutation

nonsense

DNA Base Change (assembly)

T to A at 80455417 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Lysine to Stop codon at position 103 (K103*)

Gene Model

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

AlphaFold

O88700

Predicted Effect

probably null
Transcript: ENSMUST00000081314
AA Change: K1365*

SMART Domains

Protein: ENSMUSP00000080062
Gene: ENSMUSG00000030528
AA Change: K1365*

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
AA Change: K1368*

SMART Domains

Protein: ENSMUSP00000127995
Gene: ENSMUSG00000030528
AA Change: K1368*

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: ENSMUST00000206518

Predicted Effect

probably null
Transcript: ENSMUST00000206901
AA Change: K103*

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000206948

Predicted Effect

probably benign
Transcript: ENSMUST00000206989

Meta Mutation Damage Score

0.9711

Coding Region Coverage

1x: 98.7%
3x: 97.5%
10x: 93.3%
20x: 82.6%

Validation Efficiency

96% (67/70)

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
Ano1	A	G	7: 144,633,689 (GRCm38)	W447R	possibly damaging	Het
Camta2	A	G	11: 70,676,404 (GRCm38)	I675T	probably benign	Het
Catsperz	G	A	19: 6,925,082 (GRCm38)	R15C	probably damaging	Het
Chd1l	T	C	3: 97,603,648 (GRCm38)		probably benign	Het
Corin	C	A	5: 72,304,933 (GRCm38)	E844D	possibly damaging	Het
Cyb5rl	T	G	4: 107,080,907 (GRCm38)	M127R	probably damaging	Het
Dcdc2a	A	T	13: 25,102,586 (GRCm38)	N164I	possibly damaging	Het
Dnah6	A	G	6: 73,208,545 (GRCm38)		probably null	Het
Emilin2	T	C	17: 71,255,965 (GRCm38)		probably benign	Het
Epb41l2	T	A	10: 25,443,902 (GRCm38)	V211D	probably damaging	Het
Fbxo47	C	T	11: 97,868,601 (GRCm38)	M166I	probably benign	Het
Gm13124	T	A	4: 144,565,065 (GRCm38)	I24L	probably benign	Het
Gm4450	G	A	3: 98,446,866 (GRCm38)	Q106*	probably null	Het
Golm1	T	C	13: 59,638,373 (GRCm38)	D335G	probably damaging	Het
Gpn1	T	A	5: 31,503,429 (GRCm38)	M188K	probably damaging	Het
Gpr84	T	A	15: 103,309,219 (GRCm38)	S144C	probably damaging	Het
Grm8	G	T	6: 27,981,201 (GRCm38)	Q237K	possibly damaging	Het
Gsdmd	C	A	15: 75,867,059 (GRCm38)		probably null	Het
Hmgcr	G	A	13: 96,659,020 (GRCm38)	T347I	probably damaging	Het
Hsd17b7	T	A	1: 169,961,205 (GRCm38)		probably benign	Het
Klhl7	T	G	5: 24,159,491 (GRCm38)	W508G	probably damaging	Het
Lrp2	C	A	2: 69,428,604 (GRCm38)	D4581Y	probably damaging	Het
Lrrc7	T	C	3: 158,135,331 (GRCm38)	N1357D	probably benign	Het
Macf1	T	C	4: 123,486,658 (GRCm38)		probably benign	Het
Mroh7	T	C	4: 106,720,495 (GRCm38)	T329A	probably damaging	Het
Mroh9	C	T	1: 163,043,983 (GRCm38)		probably null	Het
Mta2	A	G	19: 8,949,186 (GRCm38)		probably benign	Het
Myo3a	A	T	2: 22,267,095 (GRCm38)		probably benign	Het
Nrip2	A	G	6: 128,407,389 (GRCm38)	D153G	probably benign	Het
Nup133	T	C	8: 123,917,417 (GRCm38)		probably benign	Het
Nup210	C	T	6: 91,042,347 (GRCm38)	V259M	possibly damaging	Het
Olfr1338	C	T	4: 118,753,619 (GRCm38)	M308I	probably benign	Het
Olfr1466	A	T	19: 13,341,847 (GRCm38)	I30F	probably benign	Het
Olfr1499	A	T	19: 13,815,362 (GRCm38)	V76D	probably damaging	Het
Otog	C	T	7: 46,289,689 (GRCm38)	R2048C	probably damaging	Het
Paqr7	T	C	4: 134,507,813 (GRCm38)	L327P	probably damaging	Het
Parl	A	G	16: 20,286,926 (GRCm38)	S249P	probably damaging	Het
Phc1	A	G	6: 122,325,874 (GRCm38)	I230T	probably benign	Het
Pitpnm1	T	G	19: 4,110,831 (GRCm38)		probably null	Het
Plpp1	A	G	13: 112,834,943 (GRCm38)	Y48C	probably damaging	Het
Pxdc1	A	G	13: 34,628,887 (GRCm38)	F194L	probably benign	Het
Rp1	A	T	1: 4,345,936 (GRCm38)	V1651D	possibly damaging	Het
Serpinb1c	T	A	13: 32,896,960 (GRCm38)	R47*	probably null	Het
Sis	T	C	3: 72,946,582 (GRCm38)	T521A	possibly damaging	Het
Slc16a9	A	G	10: 70,282,478 (GRCm38)	D209G	probably benign	Het
Slc26a4	A	T	12: 31,525,568 (GRCm38)	C706*	probably null	Het
Slc37a2	A	G	9: 37,236,881 (GRCm38)	V325A	probably benign	Het
Speg	T	A	1: 75,401,501 (GRCm38)	D784E	probably damaging	Het
Sycp1	T	C	3: 102,920,622 (GRCm38)	I270V	probably benign	Het
Tatdn2	T	A	6: 113,704,115 (GRCm38)	F309I	probably damaging	Het
Tmem206	T	C	1: 191,348,435 (GRCm38)	V284A	probably damaging	Het
Tmem67	T	C	4: 12,089,400 (GRCm38)		probably benign	Het
Trpm1	T	A	7: 64,203,053 (GRCm38)		probably null	Het
Wrn	T	C	8: 33,292,686 (GRCm38)	R496G	probably damaging	Het
Zfhx2	A	G	14: 55,063,397 (GRCm38)	V2299A	probably benign	Het
Zfp819	T	A	7: 43,617,100 (GRCm38)	S260T	possibly 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
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
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'- GGCTGCCTCACACAAGAAGTTCTAC -3'
(R):5'- GTCACAGGCCACGAACTGAGATAC -3'

Sequencing Primer
(F):5'- GGATGATTCAGCCATTGCTAC -3'
(R):5'- CAGAGCATACTTGTGTACTGGG -3'

Posted On

2014-02-18