Mutagenetix > Incidental Mutation

Incidental Mutation 'RF018:Blm'

603675

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 #

RF018 (G1)

Quality Score

217.468

Status

Not validated

Chromosome

Chromosomal Location

80454733-80535119 bp(-) (GRCm38)

Type of Mutation

nonsense

DNA Base Change (assembly)

CCTCCTCC to CCTCCTCCTCCTACTCCTCC at 80512926 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 null
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

probably null
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

Coding Region Coverage

1x: 99.8%
3x: 99.7%
10x: 99.3%
20x: 98.6%

Validation Efficiency

100% (54/54)

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: 75 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A030005L19Rik	GTGGCTGCT	GTGGCTGCTTTGGCTGCT	1: 82,913,572		probably benign	Het
Abca15	T	A	7: 120,394,460	V1301E	possibly damaging	Het
Adcy10	T	A	1: 165,552,109	V980E	probably damaging	Het
Aldh1a2	T	C	9: 71,285,270	V469A	probably damaging	Het
Alk	T	A	17: 71,949,813	T684S	probably benign	Het
Ankhd1	GGCGGC	GGCGGCAGCGGC	18: 36,560,912		probably benign	Het
Anks1b	G	A	10: 90,033,225	G49D	probably damaging	Het
Btnl10	CAAA	CAAAAAA	11: 58,923,926		probably benign	Het
C130060K24Rik	T	A	6: 65,456,190	Y331*	probably null	Het
Ccdc81	C	A	7: 89,866,698		probably null	Het
Cd209g	A	G	8: 4,137,398	Y194C	probably benign	Het
Cenpc1	A	T	5: 86,045,369	S220R	possibly damaging	Het
Ddx42	A	T	11: 106,232,804		probably null	Het
Dock4	GTGCCGGTGCCCGT	G	12: 40,844,399		probably null	Het
Eif5b	A	T	1: 38,021,592		probably null	Het
Ell2	C	A	13: 75,763,608	H338N	probably damaging	Het
Entpd2	CTT	CTTT	2: 25,400,895		probably null	Het
Flywch1	CCACTCCTGGTGT	CCACTCCTGGTGTGGGGAGGCTACGTACTCACGCACTCCTGGTGT	17: 23,762,166		probably null	Het
Gm8369	GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG	GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG	19: 11,511,742		probably null	Het
Gnat2	T	C	3: 108,096,329	S107P	unknown	Het
Guk1	T	A	11: 59,186,408	D70V	probably benign	Het
Itpkb	C	T	1: 180,333,322	R338W	probably damaging	Het
Krtap28-10	ACCACAGCCACAGCCACCACAGCCACAGCC	ACCACAGCCACAGCCCCCACAGCCACAGCCACCACAGCCACAGCC	1: 83,042,253		probably benign	Het
Lamp3	A	C	16: 19,701,250	I61R	probably benign	Het
Lrch1	GCTGGTGGTGT	G	14: 74,947,555		probably null	Het
Lrp1b	C	T	2: 41,110,907	E2216K		Het
Lrrc27	A	G	7: 139,226,100	D227G	probably benign	Het
Lrrk1	C	T	7: 66,381,502	G16E	possibly damaging	Het
Lrrtm1	T	A	6: 77,244,351	S264T	possibly damaging	Het
Lypd8	CCAATCACCAACA	CCAATCACCAACAGTTTCCTCGCCTCTGTTACCCCACCAATCACCAACA	11: 58,390,232		probably benign	Het
Mamld1	CAG	CAGAAG	X: 71,118,849		probably benign	Het
Mpo	G	C	11: 87,797,639	A375P	probably damaging	Het
Myo9a	A	G	9: 59,869,586	H1089R	probably benign	Het
Ndufc2	T	C	7: 97,407,021	*109Q	probably null	Het
Nudt16	A	T	9: 105,131,699	Y28N	probably damaging	Het
Nudt4	A	T	10: 95,549,813		probably null	Het
Nusap1	AGATACACGTTAGCAGTGAGGAGCAAGCTG	AGATACACGTTAGCAGTGAGGAGCAAGCTGCGATACACGTTAGCAGTGAGGAGCAAGCTG	2: 119,627,578		probably benign	Het
Olfr697	T	A	7: 106,741,485	I150F	probably benign	Het
P2ry12	T	A	3: 59,217,412	T281S	probably benign	Het
P4ha2	TGTTGG	T	11: 54,110,246		probably null	Het
Pcnx2	A	G	8: 125,877,519	V666A	probably damaging	Het
Pde6a	T	A	18: 61,231,403	I177N	possibly damaging	Het
Pgm2	A	T	4: 99,962,303		probably null	Het
Plce1	T	A	19: 38,717,207	W1019R	probably damaging	Het
Plch1	C	A	3: 63,721,215	K542N	probably damaging	Het
Plekhj1	T	C	10: 80,796,637	Q113R	not run	Het
Postn	A	T	3: 54,384,492	I705F	probably damaging	Het
Ppp1r15b	G	T	1: 133,131,614		probably benign	Het
Prkab1	T	C	5: 116,021,630	E59G	probably damaging	Het
Raph1	GG	GGGGG	1: 60,489,267		probably benign	Het
Rassf6	AGCAATGGGGATTC	AGCAATGGGGATTCTGCCTCACTCATGGTCCTGTAGCGCAATGGGGATTC	5: 90,608,929		probably benign	Het
Rnf144a	TCTC	TCTCTCTCTCTCTCTCACTC	12: 26,314,014		probably benign	Het
Ros1	T	A	10: 52,155,121	M484L	probably benign	Het
Rpa1	GCTGCTGCC	GC	11: 75,318,517		probably null	Het
Sectm1b	A	G	11: 121,054,930	V195A	probably benign	Het
Sirpa	TCATCAG	T	2: 129,609,203		probably null	Het
Slc28a1	T	A	7: 81,169,284		probably null	Het
Sphk1	G	C	11: 116,534,945	S42T	possibly damaging	Het
Spta1	T	C	1: 174,209,319	L1132P	probably damaging	Het
Srrt	A	T	5: 137,300,000	N303K	probably benign	Het
Ssh2	A	G	11: 77,454,054	E955G	probably damaging	Het
Strn	CCAGTC	CCAGTCCGTGCTCCCTTACCCCAGTCCGTGCTCCCTTACCACAGTC	17: 78,677,283		probably null	Het
Tchhl1	T	C	3: 93,470,384	F132L	probably benign	Het
Tex14	A	G	11: 87,514,746	E828G	probably benign	Het
Tfeb	CAG	CAGGAG	17: 47,786,095		probably benign	Het
Tmem28	CGCCGC	CGCCGCTGCCGC	X: 99,821,361		probably benign	Het
Tmtc1	T	C	6: 148,247,511	Y699C	probably damaging	Het
Ubn1	A	G	16: 5,064,392	Y239C	probably damaging	Het
Vmn2r23	T	G	6: 123,713,116	L317R	probably benign	Het
Vmn2r78	C	T	7: 86,954,431	R606*	probably null	Het
Vps72	T	G	3: 95,121,408		probably null	Het
Zc3h11a	A	G	1: 133,627,115	S376P	possibly damaging	Het
Zfp384	GCCCAGGC	GCCCAGGCCCAGTCCCAGGC	6: 125,036,489		probably benign	Het
Zfp598	CAACCAC	CAACCACAACCAC	17: 24,680,771		probably benign	Het
Zfp628	TACTCCTCCACCC	T	7: 4,920,949		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
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
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
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'- CACAACTGTCCTGTGTACCG -3'
(R):5'- AGATGCGTTTGCTTCACTGG -3'

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

Posted On

2019-12-04