Mutagenetix > Incidental Mutation

Incidental Mutation 'FR4304:Blm'

511010

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 #

FR4304 ()

Quality Score

181.468

Status

Not validated

Chromosome

Chromosomal Location

80454733-80535119 bp(-) (GRCm38)

Type of Mutation

small insertion (4 aa in frame mutation)

DNA Base Change (assembly)

TCCTCCTCCTCC to TCCTCCTCCTCCACCTCCTCCTCC at 80512919 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: 99.8%
3x: 99.6%
10x: 98.6%
20x: 96.4%

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: 136 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700001K19Rik	CTT	CTTTTT	12: 110,668,449		probably benign	Homo
1700001K19Rik	TTC	TTCGTC	12: 110,668,450		probably benign	Homo
4930402H24Rik	TCC	TCCCCC	2: 130,770,748		probably benign	Het
4930433I11Rik	ACCTC	AC	7: 40,993,056		probably benign	Het
4930447C04Rik	AAGT	A	12: 72,881,287		probably benign	Homo
4930548H24Rik	GAGAAG	GAG	5: 31,487,373		probably benign	Homo
Acbd4	CAG	CAGACTAG	11: 103,104,105		probably null	Homo
Ahdc1	CT	CTCTT	4: 133,062,759		probably benign	Homo
Alpk3	TCT	TCTGCT	7: 81,077,762		probably benign	Het
Anapc4	C	T	5: 52,864,526	T650M	probably damaging	Homo
Ankhd1	GGCGGC	GGCGGCTGCGGC	18: 36,560,924		probably benign	Het
Ankrd35	TAGC	TAGCAGC	3: 96,683,847		probably benign	Homo
Apc	GCCAATAAA	GCCAATAAAACCAATAAA	18: 34,281,997		probably benign	Het
Apol6	TTGT	TTGTCTGT	15: 77,051,436		probably null	Het
Arhgap30	TGGCCC	TGGCCCTGGCCCAGGCCTTGGCCCCGGCCC	1: 171,405,168		probably benign	Het
Arpc1b	GCC	GCCTGTCC	5: 145,126,791		probably null	Het
BC051142	A	AGCC	17: 34,460,055		probably benign	Het
BC051142	GC	GCATC	17: 34,460,077		probably benign	Het
Btnl10	GA	GAATA	11: 58,923,930		probably benign	Homo
Cacna1f	AGG	AGGCGG	X: 7,620,061		probably benign	Het
Calhm3	CG	CGG	19: 47,151,896		probably null	Homo
Catsper2	C	CTTTTACTTTTTA	2: 121,397,542		probably null	Homo
Catsper2	CAT	CATTAT	2: 121,397,782		probably benign	Het
Ccdc15	AC	ACTTTCC	9: 37,315,157		probably null	Het
Ccdc162	T	C	10: 41,556,121	D1792G	possibly damaging	Het
Ccdc170	CCA	CCATCA	10: 4,561,021		probably benign	Het
Ccdc73	TAAG	T	2: 104,991,840		probably benign	Homo
Ccdc85c	GCC	GCCCCC	12: 108,274,612		probably benign	Het
Cd22	C	T	7: 30,878,082	R2H	possibly damaging	Het
Cd80	AGA	AGAGGA	16: 38,486,315		probably benign	Homo
Cep89	GACT	G	7: 35,409,641		probably benign	Het
Cfap74	A	G	4: 155,415,760	D21G	possibly damaging	Homo
Cgref1	T	TCTA	5: 30,933,780		probably benign	Homo
Chd4	GCC	GCCACTCCC	6: 125,122,144		probably benign	Het
Cnpy3	TCC	TCCCCC	17: 46,736,743		probably benign	Het
Cnpy3	TCC	TCCACC	17: 46,736,746		probably benign	Het
Cntnap1	AGCCCC	AGCCCCCGCCCC	11: 101,189,581		probably benign	Het
Cntnap1	CCCCAG	CCCCAGACCCAG	11: 101,189,589		probably benign	Het
Col2a1	C	A	15: 97,988,981		probably null	Homo
Cpeb4	T	TGA	11: 31,927,638		probably benign	Homo
Cpne1	AGA	AGAGAGA	2: 156,072,025		probably null	Homo
Cttnbp2	ATTGCTG	ATTGCTGTTGCTG	6: 18,367,458		probably benign	Het
Dhx37	CTGG	C	5: 125,427,530		probably benign	Het
Dhx8	CGAGAC	CGAGACGGAGAC	11: 101,738,188		probably benign	Homo
Dnah12	G	T	14: 26,849,385	G2817V	probably damaging	Homo
Dst	C	A	1: 34,200,964	S1798Y	probably damaging	Het
Eif3a	TA	TATTTCA	19: 60,775,290		probably benign	Homo
Ermn	TTC	TTCCTC	2: 58,048,078		probably benign	Het
Ermn	CTT	CTTGTT	2: 58,048,086		probably benign	Het
Fbxo43	GCCTGT	GCCTGTTCCTGT	15: 36,152,094		probably benign	Het
Fbxo43	TGTGCC	TGTGCCAGTGCC	15: 36,152,097		probably benign	Het
Fbxo43	GCCTGT	GCCTGTCCCTGT	15: 36,152,100		probably benign	Het
Fmn1	TCCTCC	TCCTCCCCCTCC	2: 113,525,774		probably benign	Het
Fmn1	TCC	TCCTCCACC	2: 113,525,783		probably benign	Homo
Foxd3	GGACCCTACGGCCG	GG	4: 99,657,396		probably benign	Homo
Frmpd2	G	T	14: 33,511,021	L399F	probably damaging	Homo
Gabre	ACTCCGGCTCCGGCTCAGGCTCAGGCTCCGGCTCAGGCTCCGGCTCCGGCTCCGGCTC	ACTCCGGCTCCGGCTCCGGCTCAGGCTCAGGCTCCGGCTCAGGCTCCGGCTCCGGCTCCGGCTC	X: 72,270,042		probably benign	Homo
Gbp2b	A	G	3: 142,603,652	I175V	probably benign	Het
Gm4340	CAG	CAGAAG	10: 104,196,072		probably benign	Het
Gm4340	AGC	AGCGGC	10: 104,196,082		probably benign	Het
Gm5114	T	C	7: 39,411,105	R107G	probably benign	Het
Gm5114	A	C	7: 39,411,106	H106Q	probably benign	Het
Gm9573	T	G	17: 35,622,121		probably benign	Homo
H2-Q4	G	A	17: 35,380,405	D155N	probably damaging	Het
H2-T10	TGTTTCCCACTG	T	17: 36,120,281		probably null	Het
Hist1h1t	GAGAA	GA	13: 23,695,920		probably benign	Homo
Ifi203	C	T	1: 173,928,328		probably benign	Het
Ifi208	ATGGTG	ATG	1: 173,677,698		probably benign	Homo
Ighv5-9	C	T	12: 113,661,877	S82N	probably benign	Homo
Il17rd	CGG	CGGTGG	14: 27,082,680		probably benign	Het
Il2	AGTGG	AGTGGGGCTTGAGGTGG	3: 37,125,826		probably benign	Het
Ipo9	TCC	TCCGCC	1: 135,386,275		probably benign	Het
Ipo9	CCT	CCTACT	1: 135,386,279		probably null	Het
Isg20l2	AAG	AAGCAG	3: 87,931,712		probably benign	Homo
Kmt2b	TCCTCC	TCCTCCCCCTCC	7: 30,586,363		probably benign	Het
Kmt2c	TGCTGCTG	TGCTGCTGCTGCTG	5: 25,315,766		probably benign	Homo
Krt10	CGCC	CGCCGCC	11: 99,386,199		probably benign	Het
Krt10	CCTCCT	CCTCCTACTCCT	11: 99,389,274		probably benign	Het
Las1l	GAG	GAGCAG	X: 95,940,820		probably benign	Het
Las1l	AGG	AGGCGG	X: 95,940,821		probably benign	Het
Lkaaear1	GCTCCAGCTCCAGCTCCAGCTCCA	GCTCCAGCTCCATCTCCAGCTCCAGCTCCAGCTCCA	2: 181,697,579		probably benign	Het
Lrch1	A	T	14: 74,819,565	C241S	possibly damaging	Het
Lrit3	G	GCTT	3: 129,788,819		probably benign	Het
Maml2	GCAGCAGCAACAGCAGCA	GCAGCAGCA	9: 13,621,459		probably benign	Homo
Mast4	T	TTTC	13: 102,734,862		probably benign	Het
Med12l	AGC	AGCGGC	3: 59,275,982		probably benign	Het
Noc2l	TGC	TGCAGC	4: 156,240,096		probably benign	Het
Nrg3	G	GACATTT	14: 38,397,273		probably benign	Homo
Olfr635	TCC	TCCC	7: 103,979,903		probably null	Het
Padi3	TCTCAC	TC	4: 140,792,972		probably benign	Homo
Park2	G	A	17: 11,854,763	V323M	probably damaging	Het
Patl2	GCT	GCTTCT	2: 122,126,135		probably benign	Het
Pdik1l	TTTT	TTTTGTTTTTGGTTT	4: 134,279,374		probably null	Homo
Pik3c2g	AG	AGAGGG	6: 139,635,656		probably null	Homo
Plekhs1	T	TTCAGACCTCCCC	19: 56,479,858		probably benign	Het
Prkd3	G	T	17: 78,975,820		probably null	Homo
Prr13	TCC	TCCCCC	15: 102,462,177		probably benign	Homo
Prrc2b	G	A	2: 32,221,167	A1852T	probably damaging	Homo
Ptms	CTT	CTTTTT	6: 124,914,458		probably benign	Homo
Rtl1	TTCCTCTTCCTCCTC	TTCCTC	12: 109,591,198		probably benign	Homo
Scaf4	TGCGGC	TGC	16: 90,229,854		probably benign	Homo
Serac1	T	A	17: 6,070,808	K70N	probably damaging	Homo
Six3	CGG	CGGTGG	17: 85,621,368		probably benign	Het
Sry	GTG	GTGCTG	Y: 2,662,837		probably benign	Homo
Stard8	GGAAGA	GGAAGAAGA	X: 99,066,505		probably benign	Het
Supt20	TTCAGCA	TTCAGCATCAGCA	3: 54,727,647		probably benign	Het
Supt20	AGCAGC	AGCAGCGGCAGC	3: 54,727,662		probably benign	Het
Supt20	CAGCAG	CAGCAGTAGCAG	3: 54,727,664		probably null	Het
Sytl1	CTCT	C	4: 133,256,993		probably benign	Homo
Tcof1	AGC	AGCGGC	18: 60,835,742		probably benign	Het
Tdpoz2	T	TCA	3: 93,651,615		probably null	Homo
Tert	GCC	GCCAAGGGTTCC	13: 73,648,302		probably benign	Homo
Tfeb	GCA	GCAACA	17: 47,786,094		probably benign	Het
Ticrr	ATT	ATTTTT	7: 79,694,311		probably benign	Homo
Tnfaip8	ACACACACTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTC	AC	18: 50,046,839		probably null	Homo
Tnfrsf9	T	TGCC	4: 150,934,395		probably benign	Homo
Tob1	GCA	GCAACA	11: 94,214,464		probably benign	Het
Tob1	CA	CAGTA	11: 94,214,477		probably null	Het
Trav15-2-dv6-2	GGGAG	GGGAGGAG	14: 53,649,750		probably benign	Homo
Triobp	TCGTCG	TCGTCGTCG	15: 78,993,387		probably benign	Homo
Tsen2	AGG	AGGGGG	6: 115,560,069		probably benign	Het
Ubtf	TCC	TCCGCC	11: 102,306,956		probably benign	Het
Ubtf	CTCGTCGTC	CTCGTCGTCGTC	11: 102,306,958		probably benign	Het
Vars	TGG	TGGAGTCCTGGGCGG	17: 35,015,989		probably benign	Homo
Vmn1r171	C	T	7: 23,632,680	A110V	probably benign	Het
Vmn2r31	G	T	7: 7,384,608	Q655K	probably damaging	Het
Vmn2r87	C	T	10: 130,478,714	M334I	probably benign	Homo
Zc3h13	AGATGTGCG	AGATGTGCGGGATGTGCG	14: 75,323,603		probably benign	Het
Zc3h13	CG	CGAGATGTGTG	14: 75,323,610		probably benign	Het
Zfp282	GGC	GGCCGC	6: 47,904,797		probably benign	Het
Zfp384	AGGC	AGGCCCAGGCCCCGGC	6: 125,036,493		probably benign	Het
Zfp459	TGA	TGAGCGA	13: 67,408,274		probably null	Homo
Zfp462	GCCACC	GCCACCTCAGCCACAACCACC	4: 55,009,757		probably benign	Het
Zfp462	CCACC	CCACCTCAGCCACAGTCACC	4: 55,009,758		probably benign	Het
Zfp598	CACCAC	CACCACAACCAC	17: 24,680,775		probably benign	Het
Zfp831	CCT	CCTGCT	2: 174,645,481		probably benign	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
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
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'- ACAACTGTCCTGTGTACCGC -3'
(R):5'- GATGCGTTTGCTTCACTGGC -3'

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

Posted On

2018-04-05