Mutagenetix > Incidental Mutation

Incidental Mutation 'R5408:Blm'

426389

Institutional Source

Beutler Lab

Gene Symbol

Blm

Ensembl Gene

ENSMUSG00000030528

Gene Name

Bloom syndrome, RecQ like helicase

Synonyms

MMRRC Submission

042977-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R5408 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

80454733-80535119 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to G at 80502622 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Proline at position 526 (T526P)

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: T523P

PolyPhen 2 Score 0.009 (Sensitivity: 0.96; Specificity: 0.77)

SMART Domains

Protein: ENSMUSP00000080062
Gene: ENSMUSG00000030528
AA Change: T523P

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: T526P

PolyPhen 2 Score 0.009 (Sensitivity: 0.96; Specificity: 0.77)

SMART Domains

Protein: ENSMUSP00000127995
Gene: ENSMUSG00000030528
AA Change: T526P

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

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 99.3%
3x: 98.7%
10x: 97.4%
20x: 95.6%

Validation Efficiency

99% (74/75)

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: 70 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1110032A03Rik	T	C	9: 50,764,757	N87S	probably damaging	Het
A430110L20Rik	A	G	1: 181,227,414		noncoding transcript	Het
Actn2	T	C	13: 12,270,795	I837V	probably benign	Het
Adora1	T	A	1: 134,203,163	T257S	probably benign	Het
Akap9	T	A	5: 4,058,458	M2954K	possibly damaging	Het
Akr1c13	G	T	13: 4,194,716	A98S	probably benign	Het
Aldh2	C	T	5: 121,570,557		probably benign	Het
Ank1	A	G	8: 23,082,193	N48D	probably damaging	Het
Ash1l	A	G	3: 88,982,394	T527A	probably damaging	Het
Atp13a1	T	C	8: 69,796,840	V251A	probably benign	Het
Baz1a	A	T	12: 54,923,050	D608E	probably damaging	Het
Bend5	A	T	4: 111,454,083		probably null	Het
Cacna1a	T	C	8: 84,549,707	V559A	probably damaging	Het
Cacna2d4	A	G	6: 119,348,791	D1042G	probably damaging	Het
Cadps	T	C	14: 12,705,759	H212R	possibly damaging	Het
Cdh3	T	C	8: 106,536,637	I106T	probably damaging	Het
Cenps	C	A	4: 149,130,201		probably benign	Het
Col16a1	A	T	4: 130,093,105		probably benign	Het
Dctn6	C	T	8: 34,094,902	V89I	possibly damaging	Het
Dgkz	C	A	2: 91,935,823	G798W	possibly damaging	Het
Epb41l2	A	T	10: 25,468,094		probably null	Het
Fam171a2	T	C	11: 102,437,518	K805R	possibly damaging	Het
Fam89b	G	T	19: 5,729,393	Y45*	probably null	Het
Fchsd2	A	G	7: 101,271,574	N462S	possibly damaging	Het
Fyco1	T	G	9: 123,829,503	H536P	probably damaging	Het
Galnt12	A	T	4: 47,104,169	E142D	probably damaging	Het
Gspt1	C	T	16: 11,253,855	G48D	probably benign	Het
H6pd	A	G	4: 149,982,865	S355P	probably damaging	Het
Hectd2	T	C	19: 36,554,896	V38A	possibly damaging	Het
Jup	C	T	11: 100,376,781	R572Q	probably damaging	Het
Kcng3	T	C	17: 83,631,005	D205G	probably benign	Het
Kif13b	A	T	14: 64,779,689		probably null	Het
Mapk3	A	G	7: 126,763,835	D253G	probably damaging	Het
Methig1	A	T	15: 100,383,754	Y253F	possibly damaging	Het
Mmp3	T	C	9: 7,449,904	S263P	probably damaging	Het
Mpo	T	A	11: 87,801,025		probably null	Het
Nbeal2	C	A	9: 110,637,520	G772W	possibly damaging	Het
Nr1d1	T	A	11: 98,770,261	H393L	probably benign	Het
Obscn	A	G	11: 59,051,611	V4915A	probably damaging	Het
Olfml2b	T	A	1: 170,644,976	W19R	probably damaging	Het
Olfr1342	T	C	4: 118,690,444	T3A	probably benign	Het
Olfr504	C	T	7: 108,565,169	A209T	probably damaging	Het
Padi6	G	A	4: 140,727,685	T647I	probably damaging	Het
Pcyox1	A	G	6: 86,392,298	L113S	probably damaging	Het
Pde4dip	T	A	3: 97,796,736	T192S	probably benign	Het
Pip4k2a	T	C	2: 18,906,308	H87R	probably benign	Het
Pkd1l3	C	A	8: 109,667,052	T2004N	probably damaging	Het
Prex1	CGTTGTTGTTGT	CGTTGTTGTTGTTGT	2: 166,575,653		probably benign	Het
Ptprz1	C	T	6: 23,002,600	T1563I	probably damaging	Het
Reg3b	T	C	6: 78,373,232	V165A	probably benign	Het
Rreb1	A	G	13: 37,931,344	D893G	probably benign	Het
Sap18	A	T	14: 57,801,974	M78L	probably benign	Het
Scaper	A	T	9: 55,586,224	F1226I	probably damaging	Het
Scyl3	A	T	1: 163,954,676		probably null	Het
Shoc2	A	G	19: 53,988,125	M149V	probably benign	Het
Slc7a2	G	A	8: 40,915,005	R602K	probably damaging	Het
Sox30	A	G	11: 45,991,867	I575V	possibly damaging	Het
Trim14	A	T	4: 46,507,134	C361S	possibly damaging	Het
Ttn	T	C	2: 76,900,928		probably benign	Het
Uncx	A	T	5: 139,544,490	K108*	probably null	Het
Usp54	A	T	14: 20,550,433	L1412Q	probably damaging	Het
Uty	A	G	Y: 1,245,614	V6A	possibly damaging	Het
Vmn1r30	C	T	6: 58,435,044	V268I	probably benign	Het
Wdsub1	T	C	2: 59,861,543		probably benign	Het
Wipf3	A	G	6: 54,481,911	I84V	probably benign	Het
Xcr1	T	A	9: 123,856,566	I44F	probably benign	Het
Zfp687	T	C	3: 95,009,275		probably benign	Het
Zfp729b	A	T	13: 67,591,444	S901T	probably benign	Het
Zhx1	A	T	15: 58,052,423	M809K	probably damaging	Het
Zswim9	T	C	7: 13,260,826	K468E	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
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
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'- AGATTTAACTGGCCCACCTTCC -3'
(R):5'- ACATTCCCCTTCCACTGAGG -3'

Sequencing Primer
(F):5'- CCACCTTCCTTGATGGGTGG -3'
(R):5'- TCCACTGAGGAATGTTTACCCAC -3'

Posted On

2016-09-01