Mutagenetix > Incidental Mutation

Incidental Mutation 'FR4340:Blm'

511133

Institutional Source

Beutler Lab

Gene Symbol

Blm

Ensembl Gene

ENSMUSG00000030528

Gene Name

Bloom syndrome, RecQ like helicase

Synonyms

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

FR4340 ()

Quality Score

195.468

Status

Not validated

Chromosome

Chromosomal Location

80454733-80535119 bp(-) (GRCm38)

Type of Mutation

small insertion (4 aa in frame mutation)

DNA Base Change (assembly)

TCCTCCTCCTCCTCCTCCTCCTCC to TCCTCCTCCTCCACCTCCTCCTCCTCCTCCTCCTCC at 80512910 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000127995 (fasta)

Gene Model

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

AlphaFold

O88700

Predicted Effect

probably benign
Transcript: ENSMUST00000081314

SMART Domains

Protein: ENSMUSP00000080062
Gene: ENSMUSG00000030528

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

noncoding transcript
Transcript: ENSMUST00000166096

Predicted Effect

probably benign
Transcript: ENSMUST00000170315

SMART Domains

Protein: ENSMUSP00000127995
Gene: ENSMUSG00000030528

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: 99.7%
3x: 99.4%
10x: 97.8%
20x: 94.3%

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: 113 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930433I11Rik	AACC	A	7: 40,993,055		probably benign	Het
4930548H24Rik	GAGAAG	GAG	5: 31,487,373		probably benign	Het
4930578G10Rik	G	T	4: 42,761,098		probably benign	Het
4932438A13Rik	TATTATTAT	TATTATTATTATTATCATTATTAT	3: 37,050,752		probably benign	Het
7530416G11Rik	T	A	15: 85,494,307	E45V	unknown	Homo
A530032D15Rik	A	C	1: 85,109,351	N6K	probably damaging	Het
A530064D06Rik	GTAGGAAGCTTAG	GTAG	17: 48,163,381		probably benign	Homo
Arpc1b	CC	CCTGGTC	5: 145,126,792		probably null	Het
Arrb2	C	T	11: 70,438,671	T269M	probably damaging	Homo
BC051142	CAG	CAGTAG	17: 34,460,060		probably null	Het
BC051142	GCA	GCATCA	17: 34,460,068		probably benign	Het
BC051142	GC	GCAAC	17: 34,460,077		probably benign	Het
Bcas3	G	A	11: 85,509,497	V431I	probably benign	Homo
Cacna1a	ACC	ACCGCC	8: 84,638,723		probably benign	Het
Cacna1f	AGG	AGGCGG	X: 7,620,067		probably benign	Het
Calhm1	CTCTGTGGCTGTGGCTGTGGCTGTG	CTCTGTGGCTGTGTCTGTGGCTGTGGCTGTGGCTGTG	19: 47,141,251		probably benign	Het
Casz1	ACCACAGCCACAGCCACAGCCAC	ACCACAGCCACAGCCAC	4: 148,952,302		probably benign	Homo
Cd164	G	T	10: 41,521,926	A59S	probably benign	Het
Cd22	C	T	7: 30,878,082	R2H	possibly damaging	Homo
Cd80	GAA	GAAAAA	16: 38,486,316		probably benign	Homo
Col2a1	C	A	15: 97,988,981		probably null	Het
Col6a5	A	T	9: 105,934,174	N715K	unknown	Homo
Crygc	A	T	1: 65,071,663	F155Y	probably benign	Het
Cul9	TCC	TCCCCC	17: 46,500,853		probably benign	Het
Cyp2d11	T	TGGGA	15: 82,390,022		probably null	Homo
D230025D16Rik	G	A	8: 105,241,098	G207E	probably benign	Homo
Dbr1	AGG	AGGAGGCGG	9: 99,583,701		probably benign	Het
Dnah12	G	T	14: 26,849,385	G2817V	probably damaging	Homo
Dnah8	ACACTGCC	AC	17: 30,635,463		probably benign	Het
Dthd1	C	CTTA	5: 62,843,026		probably benign	Homo
Fam166b	CAGAG	CAG	4: 43,427,384		probably null	Homo
Fam45a	CT	CTTTT	19: 60,814,621		probably benign	Homo
Frem3	CT	CTTTT	8: 80,615,241		probably benign	Homo
Frmpd2	G	T	14: 33,511,021	L399F	probably damaging	Homo
G530012D18Rik	CACACAGAGAGAGAGAGAGAGAGAGA	CA	1: 85,577,152		probably benign	Het
Gbp2b	A	G	3: 142,603,652	I175V	probably benign	Het
Gm14393	T	C	2: 175,061,634	E160G	possibly damaging	Het
Gm16519	A	AGAAC	17: 70,929,338		probably null	Homo
Gm4340	CAG	CAGTAG	10: 104,196,075		probably null	Het
Gm4340	GCAG	GCAACAG	10: 104,196,098		probably benign	Het
Gm4340	CAGAAG	CAGAAGAAG	10: 104,196,099		probably benign	Het
Gpatch11	AGGAAG	AGGAAGGGGAAG	17: 78,842,174		probably benign	Het
H2-Q4	G	A	17: 35,380,405	D155N	probably damaging	Het
Ifi208	ATGGTG	ATG	1: 173,677,698		probably benign	Homo
Ighv5-9	C	T	12: 113,661,877	S82N	probably benign	Homo
Ipo9	TCC	TCCCCC	1: 135,386,269		probably benign	Het
Ipo9	CTC	CTCTTC	1: 135,386,271		probably benign	Het
Isg20l2	AAG	AAGTAG	3: 87,931,712		probably null	Het
Kmt2b	TCCTCC	TCCTCCCCCTCC	7: 30,586,363		probably benign	Het
Kmt2b	TCCTCC	TCCTCCCCCTCC	7: 30,586,369		probably benign	Het
Kmt2b	TCCTCC	TCCTCCCCCTCC	7: 30,586,375		probably benign	Het
Krt10	CAC	CACGAC	11: 99,386,202		probably benign	Het
Krt10	ACCG	ACCGCCG	11: 99,386,203		probably benign	Homo
Krt10	CCTCCT	CCTCCTTCTCCT	11: 99,389,274		probably benign	Het
Las1l	TCCTC	TCCTCTACCTC	X: 95,940,622		probably benign	Het
Lce1a1	C	T	3: 92,646,844	G108S	unknown	Het
Lkaaear1	CCAGCTCCAG	CCAGCTCCAGCTGCAGCTCCAG	2: 181,697,594		probably benign	Het
Lrit3	CTG	CTGTTG	3: 129,788,808		probably benign	Het
Mamld1	CAG	CAGAAG	X: 71,118,846		probably benign	Het
Mapk7	TGCTGGCGCTGGTGCTGGCGCTGG	TGCTGGCGCTGGCGCTGGTGCTGGCGCTGG	11: 61,490,206		probably benign	Het
Mast4	TTTT	TTTTATTT	13: 102,734,857		probably null	Het
Mast4	GCA	GCAGTGTCA	13: 102,736,317		probably benign	Homo
Med12l	AGC	AGCCGC	3: 59,275,985		probably benign	Het
Mfsd5	G	A	15: 102,281,161	V323I	probably benign	Het
Nacad	GTC	GTCAGGATC	11: 6,599,761		probably benign	Het
Naip1	A	C	13: 100,423,076	M1140R	probably benign	Het
Nbea	TTTA	T	3: 56,009,212		probably benign	Homo
Nefh	ACTTGGCCTCACCTGGGG	ACTTGGCCTCACCTGGGGCCTTGGCCTCACCTGGGG	11: 4,941,033		probably benign	Het
Nefh	GCCTCACCTGGGGACTTGGCCTC	GCCTCACCTGGGGACTTGGCCTCACCTGGGGACTTGGCCTC	11: 4,941,038		probably benign	Homo
Nefh	CTCACCTGGGGACTTGGCCTC	CTCACCTGGGGACTTGGCCTCACCTGGGGACTTGGCCTC	11: 4,941,040		probably benign	Homo
Neu1	TCTTCTA	T	17: 34,932,558		probably benign	Het
Nutf2	G	T	8: 105,876,570	D78Y	probably damaging	Het
Olfr495	A	G	7: 108,395,893	T258A	probably benign	Het
Olfr495	G	A	7: 108,395,898	M259I	probably benign	Het
Olfr513	AT	ATGATATT	7: 108,754,954		probably benign	Homo
Olfr635	TCC	TCCC	7: 103,979,903		probably null	Het
Park2	G	A	17: 11,854,763	V323M	probably damaging	Homo
Pdik1l	ACCAC	ACCACCCCCAC	4: 134,279,512		probably benign	Het
Pik3c2g	AG	AGAGGG	6: 139,635,656		probably null	Homo
Plekhs1	TCCAGAC	TCCAGACCTCCCCCCAGAC	19: 56,479,858		probably benign	Homo
Prag1	C	CAGT	8: 36,103,886		probably benign	Homo
Pramef25	G	A	4: 143,949,742	T264M	probably damaging	Het
Raet1d	A	G	10: 22,371,559	Q178R	probably benign	Het
Serac1	T	A	17: 6,070,808	K70N	probably damaging	Homo
Serpina3i	CGG	CGGTGG	12: 104,265,164		probably benign	Het
Sfswap	ACTCAGCCC	ACTCAGCCCCCTCAGCCC	5: 129,569,751		probably benign	Het
Six3	CGG	CGGGGG	17: 85,621,356		probably benign	Het
Speer4a	C	A	5: 26,036,748	E127*	probably null	Het
Sry	GCTGCTGCTGCTG	GCTGCTGCTGCTGCTG	Y: 2,662,824		probably benign	Het
St5	CACCACACTGGGGCAGCCCACACTGGGGCAG	CCCCACACTGGGGCAG	7: 109,556,921		probably benign	Het
Tbr1	A	C	2: 61,806,347		probably benign	Het
Tdpoz2	T	TCC	3: 93,651,615		probably null	Homo
Tdpoz4	GAA	GA	3: 93,796,880		probably null	Het
Tgoln1	AAG	AAGCCTCAG	6: 72,616,351		probably benign	Homo
Tmbim7	C	T	5: 3,670,064	R100C	possibly damaging	Het
Tob1	AGC	AGCCGC	11: 94,214,454		probably benign	Het
Tob1	AGC	AGCCGC	11: 94,214,460		probably benign	Het
Tob1	CA	CAGAA	11: 94,214,477		probably benign	Het
Tomm5	GCATCTTCC	GCATCTTCCACATCTTCC	4: 45,107,973		probably benign	Het
Triobp	TCGG	TCGGCGG	15: 78,993,390		probably benign	Homo
Tsen2	AGG	AGGGGG	6: 115,560,066		probably benign	Homo
Tsen2	AGG	AGGGGG	6: 115,560,069		probably benign	Homo
Ubtf	TCC	TCCCCC	11: 102,306,950		probably benign	Het
Vmn2r87	C	T	10: 130,478,714	M334I	probably benign	Homo
Zc3h13	CGGGATGTGCG	CGGGATGTGCGGGATGTGCG	14: 75,323,592		probably benign	Homo
Zfp28	G	A	7: 6,394,863	G766R	probably damaging	Het
Zfp384	AAGCCCAGGCCCAGGCCCAGGCCCA	AAGCCCAGGCCCAAGCCCAGGCCCAGGCCCAGGCCCA	6: 125,036,463		probably benign	Het
Zfp428	G	A	7: 24,515,081	D41N	probably damaging	Homo
Zfp598	CCACAGGC	CC	17: 24,679,372		probably benign	Het
Zfp598	CCACCA	CCACCAACACCA	17: 24,680,783		probably benign	Het
Zfp831	TCC	TCCCCC	2: 174,645,480		probably benign	Het
Zfp933	GCTT	GCTTTTCTT	4: 147,825,729		probably null	Homo
Zfp936	G	A	7: 43,189,489	G127R	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
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
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'- AACTGTCCTGTGTACCGCTG -3'
(R):5'- ATGCGTTTGCTTCACTGGC -3'

Sequencing Primer
(F):5'- CCCAGTGCTCAGCTTTAGATTAG -3'
(R):5'- GCTTCACTGGCTAAAAATCCTG -3'

Posted On

2018-04-05