Mutagenetix > Incidental Mutation

Incidental Mutation 'R6266:Blm'

507006

Institutional Source

Beutler Lab

Gene Symbol

Blm

Ensembl Gene

ENSMUSG00000030528

Gene Name

Bloom syndrome, RecQ like helicase

Synonyms

MMRRC Submission

044378-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R6266 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

80454733-80535119 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

C to A at 80499940 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Lysine to Asparagine at position 640 (K640N)

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: K637N

PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)

SMART Domains

Protein: ENSMUSP00000080062
Gene: ENSMUSG00000030528
AA Change: K637N

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: K640N

PolyPhen 2 Score 0.026 (Sensitivity: 0.95; Specificity: 0.81)

SMART Domains

Protein: ENSMUSP00000127995
Gene: ENSMUSG00000030528
AA Change: K640N

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

Coding Region Coverage

1x: 99.9%
3x: 99.8%
10x: 98.8%
20x: 96.7%

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: 57 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700014D04Rik	C	T	13: 59,742,312 (GRCm38)	V147I	probably benign	Het
2310035C23Rik	T	G	1: 105,731,282 (GRCm38)		probably null	Het
Akr1c12	T	C	13: 4,270,207 (GRCm38)	T295A	probably benign	Het
Aldh2	C	A	5: 121,568,934 (GRCm38)	V217L	probably damaging	Het
Arap3	G	A	18: 37,990,791 (GRCm38)	R392C	probably damaging	Het
Aurkaip1	T	G	4: 155,832,520 (GRCm38)	L75R	probably damaging	Het
Brap	A	T	5: 121,685,265 (GRCm38)	T487S	probably benign	Het
Ccser2	G	A	14: 36,879,675 (GRCm38)	P276L	probably damaging	Het
Cdc42bpg	A	G	19: 6,311,473 (GRCm38)	E343G	probably damaging	Het
Cecr2	A	G	6: 120,761,686 (GRCm38)	S1097G	probably benign	Het
D7Ertd443e	A	T	7: 134,349,785 (GRCm38)	V53D	probably damaging	Het
Ddx3y	G	A	Y: 1,266,635 (GRCm38)	T274I	probably damaging	Homo
Dnah5	T	A	15: 28,335,627 (GRCm38)	F2246L	possibly damaging	Het
Dock3	T	A	9: 106,964,753 (GRCm38)	H959L	probably damaging	Het
Dpy19l1	A	G	9: 24,439,146 (GRCm38)	S406P	probably damaging	Het
Efcab8	T	C	2: 153,783,768 (GRCm38)	L116P	probably damaging	Het
Efnb2	T	C	8: 8,660,524 (GRCm38)	I31V	probably benign	Het
Fbxl12	A	T	9: 20,638,615 (GRCm38)	L271Q	probably damaging	Het
Fmn1	T	A	2: 113,596,338 (GRCm38)	N1133K	probably damaging	Het
Frmpd2	T	C	14: 33,565,907 (GRCm38)	S1219P	probably benign	Het
Gm7298	A	T	6: 121,782,704 (GRCm38)	R1187S	probably damaging	Het
H6pd	T	C	4: 149,995,957 (GRCm38)	I136V	probably benign	Het
Hyal2	A	G	9: 107,570,715 (GRCm38)	N189S	probably benign	Het
Jmjd1c	C	T	10: 67,249,660 (GRCm38)	P2410S	probably damaging	Het
Larp1	A	G	11: 58,042,263 (GRCm38)	D231G	probably damaging	Het
Lilra5	T	A	7: 4,241,928 (GRCm38)	S233T	possibly damaging	Het
Lrrc43	T	C	5: 123,503,277 (GRCm38)	F508S	probably damaging	Het
Marc2	T	C	1: 184,833,943 (GRCm38)	R85G	probably damaging	Het
March4	T	C	1: 72,452,488 (GRCm38)	Y208C	probably damaging	Het
Nr1h2	A	T	7: 44,552,052 (GRCm38)	C45*	probably null	Het
Olfr1123	T	A	2: 87,419,006 (GRCm38)	S319R	probably benign	Het
Olfr138	A	G	17: 38,275,148 (GRCm38)	I126V	probably benign	Het
Ppp2r5d	G	T	17: 46,685,703 (GRCm38)		probably null	Het
Prpf40a	A	T	2: 53,156,627 (GRCm38)	S324T	probably benign	Het
Psmb7	T	C	2: 38,640,187 (GRCm38)	D94G	probably damaging	Het
Psmd11	A	G	11: 80,445,941 (GRCm38)	T140A	probably benign	Het
Pygm	T	C	19: 6,398,139 (GRCm38)	I737T	probably damaging	Het
Rbp3	G	A	14: 33,954,461 (GRCm38)	R122H	probably benign	Het
Rrp8	T	C	7: 105,736,389 (GRCm38)	E3G	probably damaging	Het
Sacm1l	T	C	9: 123,542,420 (GRCm38)	S37P	probably damaging	Het
Slc12a3	A	G	8: 94,358,471 (GRCm38)	R939G	possibly damaging	Het
Slc20a1	T	C	2: 129,209,894 (GRCm38)	S608P	possibly damaging	Het
Sntg1	T	C	1: 8,554,729 (GRCm38)	Q281R	possibly damaging	Het
Tefm	A	G	11: 80,137,988 (GRCm38)	L194P	probably damaging	Het
Terf2ip	T	A	8: 112,011,915 (GRCm38)	V145E	probably damaging	Het
Tmem231	T	A	8: 111,915,265 (GRCm38)	E219V	probably null	Het
Tmx3	T	A	18: 90,537,210 (GRCm38)		probably null	Het
Tns3	G	A	11: 8,492,987 (GRCm38)	P459S	probably damaging	Het
Trav13d-1	T	A	14: 52,851,763 (GRCm38)	S76R	probably benign	Het
Trp63	A	G	16: 25,862,460 (GRCm38)	N254S	probably damaging	Het
Tsen34	A	G	7: 3,693,985 (GRCm38)		probably benign	Het
Unc13d	A	G	11: 116,068,238 (GRCm38)	V701A	probably damaging	Het
Usp36	A	G	11: 118,268,585 (GRCm38)	S513P	probably damaging	Het
Uspl1	T	A	5: 149,204,366 (GRCm38)	S392T	probably damaging	Het
Vmn2r102	T	A	17: 19,678,745 (GRCm38)	C450S	probably benign	Het
Zfp128	T	C	7: 12,890,970 (GRCm38)	Y422H	possibly damaging	Het
Zkscan7	C	T	9: 122,895,234 (GRCm38)	Q423*	probably null	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
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'- AGCAGTCTTCACCAAGCAGC -3'
(R):5'- GTACAGTTATCTTGAAGACCAAAGG -3'

Sequencing Primer
(F):5'- CGCAGCATTGATCGCCTCTAG -3'
(R):5'- GGATGAACAAAGTGTATTGTAGGTAC -3'

Posted On

2018-03-15