Mutagenetix > Incidental Mutation

Incidental Mutation 'R5809:Blm'

448912

Institutional Source

Beutler Lab

Gene Symbol

Blm

Ensembl Gene

ENSMUSG00000030528

Gene Name

Bloom syndrome, RecQ like helicase

Synonyms

MMRRC Submission

043394-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R5809 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

80454733-80535119 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 80464844 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Glutamine at position 1159 (L1159Q)

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: L1156Q

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000080062
Gene: ENSMUSG00000030528
AA Change: L1156Q

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: L1159Q

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

SMART Domains

Protein: ENSMUSP00000127995
Gene: ENSMUSG00000030528
AA Change: L1159Q

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000205713

Predicted Effect

probably benign
Transcript: ENSMUST00000205730

Predicted Effect

probably benign
Transcript: ENSMUST00000206901

Predicted Effect

probably benign
Transcript: ENSMUST00000206989

Meta Mutation Damage Score

0.6467

Coding Region Coverage

1x: 99.3%
3x: 98.8%
10x: 97.5%
20x: 95.9%

Validation Efficiency

99% (77/78)

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: 72 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2810403A07Rik	A	G	3: 88,708,885	R460G	probably damaging	Het
A230072I06Rik	A	G	8: 12,279,556	S4G	unknown	Het
AA623943	T	C	11: 94,813,002		noncoding transcript	Het
Abca13	T	A	11: 9,293,692	S1852T	probably damaging	Het
Ackr2	G	A	9: 121,909,474	C305Y	probably damaging	Het
Aebp1	T	C	11: 5,870,257	V411A	probably benign	Het
Akp3	G	A	1: 87,126,548	R269H	probably benign	Het
Alox15	C	A	11: 70,350,882	G58W	probably damaging	Het
Ankle2	A	G	5: 110,237,990	N369S	probably damaging	Het
Ankrd28	T	A	14: 31,743,354	I289L	probably benign	Het
Atp13a4	T	A	16: 29,433,987	T714S	possibly damaging	Het
Birc6	A	C	17: 74,670,374	N4388T	probably damaging	Het
Caskin1	G	A	17: 24,504,547	V770I	probably benign	Het
Ccdc148	T	A	2: 58,823,645	H498L	probably damaging	Het
Cdh26	T	A	2: 178,460,126	Y179*	probably null	Het
Cela2a	T	A	4: 141,825,553	T38S	probably benign	Het
Cep350	A	T	1: 155,933,341	N496K	probably damaging	Het
Cep89	A	G	7: 35,417,726	Y251C	probably damaging	Het
Cluh	T	C	11: 74,661,700	S524P	probably damaging	Het
Cpeb4	T	C	11: 31,872,801	S172P	probably damaging	Het
Ctnnd2	T	C	15: 30,847,377	S705P	probably damaging	Het
D730048I06Rik	C	T	9: 35,789,001	C96Y	probably damaging	Het
Dock2	T	G	11: 34,262,445	D1232A	probably benign	Het
Donson	T	C	16: 91,687,850	N9S	possibly damaging	Het
Gdf9	T	C	11: 53,433,554	L50P	probably benign	Het
Gm10300	C	T	4: 132,075,147		probably benign	Het
Gm8369	A	G	19: 11,504,884		probably benign	Het
Gm8674	T	A	13: 49,901,888		noncoding transcript	Het
Hepacam	T	A	9: 37,384,805	S417R	possibly damaging	Het
Hibch	T	A	1: 52,853,700	L23Q	probably benign	Het
Hmcn1	G	A	1: 150,649,607	R3389C	probably damaging	Het
Hsp90ab1	G	T	17: 45,570,649		probably benign	Het
Hunk	C	A	16: 90,475,903	T365K	probably damaging	Het
Il12a	A	T	3: 68,695,262		probably benign	Het
Ints13	A	G	6: 146,576,349	V34A	probably benign	Het
Intu	A	C	3: 40,679,590	M418L	probably damaging	Het
Klra9	A	G	6: 130,179,073	S240P	probably damaging	Het
Mtpn	C	T	6: 35,512,290	D100N	probably benign	Het
Ndrg1	A	G	15: 66,930,850		probably benign	Het
Olfr181	T	C	16: 58,926,497	T25A	probably benign	Het
Olfr739	T	C	14: 50,425,448	*310Q	probably null	Het
Pax7	A	G	4: 139,830,371	S30P	probably damaging	Het
Pdcd11	A	T	19: 47,093,808	T54S	probably benign	Het
Pex19	T	C	1: 172,130,739	V95A	probably damaging	Het
Pkhd1l1	A	G	15: 44,519,707	I1121V	probably benign	Het
Pklr	A	T	3: 89,141,784	I146F	probably benign	Het
Plcb1	T	C	2: 135,262,244	Y278H	possibly damaging	Het
Plcl1	T	A	1: 55,696,001	I167N	probably damaging	Het
Plekhh1	A	T	12: 79,078,687	I1241F	probably benign	Het
Plxnb2	G	T	15: 89,167,571	D148E	possibly damaging	Het
Pthlh	T	C	6: 147,257,247	I72V	probably damaging	Het
Ptpru	C	T	4: 131,785,756	R880Q	probably benign	Het
Rrp36	T	C	17: 46,668,006	K209E	probably damaging	Het
Scarb1	A	G	5: 125,304,222	V86A	probably damaging	Het
Sh2d7	A	C	9: 54,539,576	S37R	probably benign	Het
Slc13a2	A	T	11: 78,397,821	V543E	probably damaging	Het
Smarcal1	A	G	1: 72,591,137	T117A	probably benign	Het
Smok2a	A	G	17: 13,226,978	R481G	possibly damaging	Het
Smr2	G	A	5: 88,108,840	A126T	probably benign	Het
Sspo	G	T	6: 48,460,045	W1304C	possibly damaging	Het
Svep1	A	G	4: 58,116,524	S909P	possibly damaging	Het
Tchh	A	T	3: 93,445,573	K773N	unknown	Het
Tmem156	T	C	5: 65,075,607	N140S	possibly damaging	Het
Tmem213	T	C	6: 38,115,654	I107T	possibly damaging	Het
Tpd52l2	A	G	2: 181,511,579	Y161C	probably damaging	Het
Trappc8	C	T	18: 20,818,082	A1436T	probably benign	Het
Ubr3	A	G	2: 69,965,511	Y933C	possibly damaging	Het
Ufm1	A	T	3: 53,857,882		probably benign	Het
Wdr27	A	T	17: 14,883,669	L725Q	probably damaging	Het
Zdbf2	A	G	1: 63,305,876	D1138G	possibly damaging	Het
Zkscan16	G	A	4: 58,946,481	V119M	probably damaging	Het
Zmat5	A	G	11: 4,722,431	D16G	probably damaging	Het

Other mutations in Blm

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01531:Blm	APN	7	80474071	missense	probably damaging	1.00
IGL01658:Blm	APN	7	80463941	missense	probably damaging	0.98
IGL02048:Blm	APN	7	80502961	splice site	probably benign
IGL02060:Blm	APN	7	80514580	splice site	probably benign
IGL02063:Blm	APN	7	80509419	nonsense	probably null
IGL02102:Blm	APN	7	80469756	missense	probably damaging	1.00
IGL02420:Blm	APN	7	80496006	missense	probably damaging	1.00
IGL02452:Blm	APN	7	80503377	splice site	probably null
IGL02566:Blm	APN	7	80474196	missense	probably damaging	1.00
IGL03387:Blm	APN	7	80494147	missense	probably damaging	1.00
FR4304:Blm	UTSW	7	80463773	frame shift	probably null
FR4304:Blm	UTSW	7	80512919	small insertion	probably benign
FR4340:Blm	UTSW	7	80463767	unclassified	probably benign
FR4340:Blm	UTSW	7	80512907	small insertion	probably benign
FR4340:Blm	UTSW	7	80512910	small insertion	probably benign
FR4449:Blm	UTSW	7	80512908	small insertion	probably benign
FR4548:Blm	UTSW	7	80463769	frame shift	probably null
FR4589:Blm	UTSW	7	80463770	frame shift	probably null
FR4737:Blm	UTSW	7	80463771	frame shift	probably null
FR4737:Blm	UTSW	7	80463774	frame shift	probably null
FR4976:Blm	UTSW	7	80463767	unclassified	probably benign
FR4976:Blm	UTSW	7	80512907	small insertion	probably benign
R0133:Blm	UTSW	7	80502367	missense	possibly damaging	0.93
R0194:Blm	UTSW	7	80464946	unclassified	probably benign
R0526:Blm	UTSW	7	80505893	nonsense	probably null
R0673:Blm	UTSW	7	80499751	critical splice donor site	probably null
R0972:Blm	UTSW	7	80513370	missense	probably benign
R0980:Blm	UTSW	7	80499958	splice site	probably null
R1120:Blm	UTSW	7	80481466	missense	probably damaging	1.00
R1301:Blm	UTSW	7	80455417	nonsense	probably null
R1769:Blm	UTSW	7	80513370	missense	probably benign
R1866:Blm	UTSW	7	80494114	missense	probably benign	0.08
R1874:Blm	UTSW	7	80497418	missense	probably damaging	1.00
R1966:Blm	UTSW	7	80513186	missense	possibly damaging	0.86
R1991:Blm	UTSW	7	80505949	splice site	probably null
R2013:Blm	UTSW	7	80502399	missense	probably damaging	0.99
R2014:Blm	UTSW	7	80502399	missense	probably damaging	0.99
R2015:Blm	UTSW	7	80502399	missense	probably damaging	0.99
R2016:Blm	UTSW	7	80505926	missense	probably benign	0.26
R2103:Blm	UTSW	7	80505949	splice site	probably null
R2161:Blm	UTSW	7	80481370	splice site	probably null
R2215:Blm	UTSW	7	80499847	missense	possibly damaging	0.69
R3689:Blm	UTSW	7	80513079	missense	possibly damaging	0.56
R4049:Blm	UTSW	7	80502862	missense	probably benign	0.04
R4155:Blm	UTSW	7	80512904	small deletion	probably benign
R4695:Blm	UTSW	7	80494228	missense	probably damaging	1.00
R4774:Blm	UTSW	7	80463848	missense	probably damaging	1.00
R4833:Blm	UTSW	7	80466826	missense	probably benign
R4835:Blm	UTSW	7	80509546	missense	probably benign	0.41
R4994:Blm	UTSW	7	80458825	missense	probably benign	0.00
R5039:Blm	UTSW	7	80505873	missense	possibly damaging	0.50
R5330:Blm	UTSW	7	80458936	missense	possibly damaging	0.73
R5375:Blm	UTSW	7	80513229	missense	probably benign	0.00
R5408:Blm	UTSW	7	80502622	missense	probably benign	0.01
R5574:Blm	UTSW	7	80499773	missense	probably damaging	1.00
R5606:Blm	UTSW	7	80460832	splice site	probably null
R5702:Blm	UTSW	7	80458927	missense	probably benign	0.13
R6114:Blm	UTSW	7	80513487	missense	probably damaging	1.00
R6157:Blm	UTSW	7	80512985	missense	probably benign	0.18
R6163:Blm	UTSW	7	80512904	small deletion	probably benign
R6254:Blm	UTSW	7	80480342	missense	probably benign	0.04
R6266:Blm	UTSW	7	80499940	missense	probably benign	0.03
R6364:Blm	UTSW	7	80494526	nonsense	probably null
R6446:Blm	UTSW	7	80512904	small deletion	probably benign
R6502:Blm	UTSW	7	80481475	missense	probably damaging	0.98
R6700:Blm	UTSW	7	80463850	missense	possibly damaging	0.91
R7002:Blm	UTSW	7	80469753	missense	probably benign	0.00
R7105:Blm	UTSW	7	80499768	missense	probably benign	0.44
R7320:Blm	UTSW	7	80455354	nonsense	probably null
R7465:Blm	UTSW	7	80513115	missense	probably benign	0.02
R7561:Blm	UTSW	7	80502528	missense	probably damaging	0.99
R8500:Blm	UTSW	7	80455284	missense	probably damaging	1.00
R8543:Blm	UTSW	7	80494216	missense	probably damaging	0.98
R8774-TAIL:Blm	UTSW	7	80512907	small insertion	probably benign
R8774-TAIL:Blm	UTSW	7	80512918	small insertion	probably benign
R8774-TAIL:Blm	UTSW	7	80512919	small insertion	probably benign
R8775-TAIL:Blm	UTSW	7	80512931	small insertion	probably benign
R8860:Blm	UTSW	7	80494528	missense	probably benign	0.30
R8928:Blm	UTSW	7	80512904	small deletion	probably benign
R9089:Blm	UTSW	7	80513119	missense	probably damaging	1.00
R9363:Blm	UTSW	7	80458915	missense	probably damaging	1.00
RF001:Blm	UTSW	7	80512903	small insertion	probably benign
RF001:Blm	UTSW	7	80512906	small insertion	probably benign
RF001:Blm	UTSW	7	80512927	small insertion	probably benign
RF002:Blm	UTSW	7	80512905	small insertion	probably benign
RF002:Blm	UTSW	7	80512927	small insertion	probably benign
RF007:Blm	UTSW	7	80512933	nonsense	probably null
RF016:Blm	UTSW	7	80512926	nonsense	probably null
RF018:Blm	UTSW	7	80512926	nonsense	probably null
RF027:Blm	UTSW	7	80512914	frame shift	probably null
RF028:Blm	UTSW	7	80512905	nonsense	probably null
RF031:Blm	UTSW	7	80512906	small insertion	probably benign
RF031:Blm	UTSW	7	80512923	small insertion	probably benign
RF032:Blm	UTSW	7	80512930	small insertion	probably benign
RF036:Blm	UTSW	7	80512914	nonsense	probably null
RF044:Blm	UTSW	7	80512930	small insertion	probably benign
RF053:Blm	UTSW	7	80512921	small insertion	probably benign
RF064:Blm	UTSW	7	80512923	nonsense	probably null
X0061:Blm	UTSW	7	80458850	missense	possibly damaging	0.89

Predicted Primers

PCR Primer
(F):5'- GCTCCAGAGGAAATGTGACTTTG -3'
(R):5'- GATCTCTTGTTTGTCCACAGATG -3'

Sequencing Primer
(F):5'- GTGACTTTGGAAGGATAACAAACTC -3'
(R):5'- GTCCACAGATGTCCTTGAATGGC -3'

Posted On

2016-12-15