Mutagenetix > Incidental Mutation

Incidental Mutation 'R1866:Blm'

208722

Institutional Source

Beutler Lab

Gene Symbol

Blm

Ensembl Gene

ENSMUSG00000030528

Gene Name

Bloom syndrome, RecQ like helicase

Synonyms

MMRRC Submission

039889-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R1866 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

80454733-80535119 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 80494114 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Proline at position 859 (L859P)

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: L856P

PolyPhen 2 Score 0.007 (Sensitivity: 0.96; Specificity: 0.75)

SMART Domains

Protein: ENSMUSP00000080062
Gene: ENSMUSG00000030528
AA Change: L856P

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: L859P

PolyPhen 2 Score 0.078 (Sensitivity: 0.93; Specificity: 0.85)

SMART Domains

Protein: ENSMUSP00000127995
Gene: ENSMUSG00000030528
AA Change: L859P

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: 97.4%
3x: 96.8%
10x: 95.3%
20x: 92.6%

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: 92 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Apba1	A	T	19: 23,892,831	E9V	probably benign	Het
Armc8	T	A	9: 99,536,280	T32S	probably benign	Het
Atr	T	A	9: 95,870,605		probably null	Het
Cacna2d3	A	T	14: 28,969,214	F51L	probably damaging	Het
Cdcp2	A	G	4: 107,107,000	N349S	probably damaging	Het
Cfap57	G	A	4: 118,599,927	H442Y	possibly damaging	Het
Chrm3	A	G	13: 9,878,481	L173P	probably damaging	Het
Cpb1	C	G	3: 20,263,756	M201I	probably benign	Het
Dgcr8	A	T	16: 18,258,314	N2K	probably damaging	Het
Dnah3	A	T	7: 119,928,856		probably null	Het
Dnah6	T	A	6: 73,100,088	Q2398L	probably benign	Het
Dpep2	A	T	8: 105,989,448		probably null	Het
E430018J23Rik	A	G	7: 127,393,331	W36R	probably damaging	Het
Eif2ak4	C	A	2: 118,472,661	T1504K	probably damaging	Het
Exoc6b	A	G	6: 84,851,914	V496A	probably damaging	Het
Fam174a	A	C	1: 95,313,895	S27R	probably benign	Het
Fat2	T	A	11: 55,292,014	Q1339L	probably benign	Het
Fkbpl	T	A	17: 34,645,823	D188E	possibly damaging	Het
Focad	A	G	4: 88,407,165	D89G	possibly damaging	Het
Fstl4	C	A	11: 53,186,398	Q661K	probably benign	Het
Gck	T	C	11: 5,903,253	Y289C	probably benign	Het
Gm156	A	G	6: 129,775,380		probably null	Het
Gm16181	T	A	17: 35,223,937		probably benign	Het
Herc1	G	A	9: 66,450,791	G2385S	probably damaging	Het
Igfn1	T	C	1: 135,974,868		probably null	Het
Il12b	T	C	11: 44,408,526	W141R	probably damaging	Het
Itga6	T	A	2: 71,834,070	S517T	probably benign	Het
Kank1	A	G	19: 25,411,449	S801G	probably benign	Het
Lctl	A	G	9: 64,131,721	D205G	probably damaging	Het
Lhx3	A	C	2: 26,203,974	V79G	probably damaging	Het
Lrrc9	T	C	12: 72,497,138	I1127T	probably damaging	Het
Ltbp3	A	T	19: 5,747,849	E505D	probably benign	Het
Man1c1	G	C	4: 134,703,438	P11R	probably damaging	Het
Map6	A	G	7: 99,315,876	S291G	probably damaging	Het
Mapk7	A	G	11: 61,489,413	F671L	probably benign	Het
Mau2	A	G	8: 70,031,492	W149R	probably damaging	Het
Mb21d2	C	T	16: 28,828,515	V236I	possibly damaging	Het
Mc5r	C	G	18: 68,338,670		probably null	Het
Mical1	C	A	10: 41,485,470	P797Q	probably benign	Het
Mnx1	G	A	5: 29,474,045	R347C	unknown	Het
Mslnl	G	A	17: 25,742,934	V128M	probably damaging	Het
Nlrp2	G	T	7: 5,327,716	C560*	probably null	Het
Npat	T	A	9: 53,563,116	L736H	probably damaging	Het
Nup155	T	A	15: 8,115,526	V147E	probably damaging	Het
Nxpe2	A	G	9: 48,326,821	F45L	probably benign	Het
Obscn	T	C	11: 59,060,915	D4370G	probably benign	Het
Olfr1000	T	A	2: 85,608,844	H22L	probably benign	Het
Olfr1047	A	C	2: 86,228,728	M81R	probably damaging	Het
Olfr1252	T	C	2: 89,721,206	K302E	probably benign	Het
Olfr1260	T	C	2: 89,978,327	L183S	probably damaging	Het
Olfr1425	A	G	19: 12,073,819	V271A	probably benign	Het
Olfr1532-ps1	A	G	7: 106,915,066	I289M	probably damaging	Het
Olfr658	A	G	7: 104,644,797	S190P	probably benign	Het
Pcx	T	C	19: 4,621,221	I1157T	possibly damaging	Het
Pias2	T	A	18: 77,152,716	S589R	probably benign	Het
Plcb1	T	C	2: 135,344,173	F687L	probably benign	Het
Plk5	G	T	10: 80,360,569		probably null	Het
Pnpla2	T	A	7: 141,455,416	Y44N	probably damaging	Het
Ppp1r12a	T	A	10: 108,262,431	D337E	possibly damaging	Het
Prl2c5	G	T	13: 13,190,773		probably null	Het
Prom2	T	C	2: 127,536,594	D460G	probably damaging	Het
Pros1	A	G	16: 62,928,135	H657R	possibly damaging	Het
Prune2	A	G	19: 17,123,492	E2120G	probably damaging	Het
Rap2a	T	A	14: 120,478,935	L70Q	probably damaging	Het
Rbl2	A	T	8: 91,112,529	E858D	probably benign	Het
Rbm48	T	C	5: 3,595,997	Y69C	probably damaging	Het
Rgs12	T	A	5: 34,965,674	I267N	probably damaging	Het
Rpusd2	G	T	2: 119,035,247	A142S	probably benign	Het
Rspo2	A	T	15: 43,075,936	W153R	probably damaging	Het
Sdk2	C	T	11: 113,838,646		silent	Het
Serinc5	T	A	13: 92,706,263	M407K	probably damaging	Het
Slain2	T	C	5: 72,957,322	S299P	probably damaging	Het
Slc17a4	A	G	13: 23,900,545	Y419H	possibly damaging	Het
Slc1a6	T	A	10: 78,791,349	D173E	probably damaging	Het
Slc22a19	A	T	19: 7,711,141	I18N	probably damaging	Het
Slc37a3	A	T	6: 39,359,968	F91L	probably damaging	Het
Spag5	C	A	11: 78,304,455	T196K	possibly damaging	Het
Susd2	G	T	10: 75,639,732	A326D	probably damaging	Het
Syna	G	T	5: 134,559,915	A60D	probably damaging	Het
Tchh	A	T	3: 93,447,760	E1502D	unknown	Het
Tecta	T	C	9: 42,392,024	H104R	probably damaging	Het
Tmed1	T	C	9: 21,509,091	D102G	probably damaging	Het
Trip12	T	C	1: 84,745,060	D128G	probably damaging	Het
Uroc1	A	G	6: 90,361,524	M656V	probably benign	Het
Usp47	T	A	7: 112,101,870	V1096D	possibly damaging	Het
Utp20	T	A	10: 88,762,770	K115*	probably null	Het
Vmn2r19	G	T	6: 123,331,638		probably null	Het
Vmn2r86	A	T	10: 130,446,386	V787D	probably damaging	Het
Vmn2r87	A	T	10: 130,472,572	I599N	possibly damaging	Het
Vwf	A	G	6: 125,667,529	D2449G	possibly damaging	Het
Zbtb7c	T	A	18: 76,136,906	C22S	probably benign	Het
Zc3h7a	A	G	16: 11,147,304	I655T	possibly 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
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
R5809:Blm	UTSW	7	80464844	missense	probably damaging	1.00
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'- TGTTCCCAAATTTTACTGCACTGAG -3'
(R):5'- GCTTCACTGGAGAATAAAGTGCATC -3'

Sequencing Primer
(F):5'- ggcttgataaagccctac -3'
(R):5'- GTGCATCTTATATATCGACCCGAGAG -3'

Posted On

2014-06-30