Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02060:Blm'

185393

Institutional Source

Australian Phenomics Network (link to record)

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 #

IGL02060

Quality Score

Status

Chromosome

Chromosomal Location

80454733-80535119 bp(-) (GRCm38)

Type of Mutation

splice site

DNA Base Change (assembly)

C to A at 80514580 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

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

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: 36 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4932438H23Rik	T	A	16: 91,055,715 (GRCm38)	I178F	probably damaging	Het
Aff1	T	C	5: 103,783,849 (GRCm38)	V111A	possibly damaging	Het
Aox1	T	G	1: 58,097,955 (GRCm38)	I1168R	possibly damaging	Het
Atf6	T	C	1: 170,819,420 (GRCm38)	R295G	probably damaging	Het
Cse1l	A	T	2: 166,930,653 (GRCm38)	L413F	probably damaging	Het
Dip2c	T	C	13: 9,622,630 (GRCm38)	V1024A	probably damaging	Het
Fam13c	A	T	10: 70,553,141 (GRCm38)	E498V	probably damaging	Het
Fat4	A	G	3: 39,010,271 (GRCm38)	E4792G	probably damaging	Het
Gm5065	A	G	7: 5,359,564 (GRCm38)	T65A	probably damaging	Het
Gm5724	T	A	6: 141,754,408 (GRCm38)	M133L	probably benign	Het
Gramd1a	A	T	7: 31,130,571 (GRCm38)	L151*	probably null	Het
Igbp1b	G	T	6: 138,657,984 (GRCm38)	A154E	probably damaging	Het
Itga9	A	G	9: 118,661,432 (GRCm38)	K277R	probably damaging	Het
Klra10	T	C	6: 130,272,725 (GRCm38)	Y199C	probably damaging	Het
Mospd3	T	C	5: 137,600,004 (GRCm38)	Y85C	probably damaging	Het
Nol6	C	T	4: 41,117,700 (GRCm38)	A887T	probably damaging	Het
Olfr1006	C	T	2: 85,674,834 (GRCm38)	V106I	probably benign	Het
Olfr1197	A	T	2: 88,729,563 (GRCm38)	F12Y	probably damaging	Het
Olfr1427	A	G	19: 12,099,460 (GRCm38)	Y60H	probably damaging	Het
Olfr480	G	T	7: 108,066,671 (GRCm38)	F42L	probably benign	Het
Pcdhb17	A	G	18: 37,486,416 (GRCm38)	T420A	probably damaging	Het
Pgghg	T	C	7: 140,946,633 (GRCm38)	V646A	probably benign	Het
Prkg2	A	G	5: 99,024,515 (GRCm38)	S114P	probably benign	Het
Rela	G	T	19: 5,638,600 (GRCm38)	K28N	probably damaging	Het
Rhbdf2	G	T	11: 116,600,626 (GRCm38)	A598E	probably damaging	Het
Ryr2	C	T	13: 11,747,564 (GRCm38)	D1454N	probably damaging	Het
Sdk1	C	T	5: 141,953,012 (GRCm38)	L397F	possibly damaging	Het
Sh3pxd2a	C	T	19: 47,373,378 (GRCm38)		probably benign	Het
Slc9a2	T	A	1: 40,756,293 (GRCm38)	V518E	probably damaging	Het
Snapc1	A	G	12: 73,968,036 (GRCm38)	Y105C	probably damaging	Het
Sult2a8	A	G	7: 14,425,401 (GRCm38)	S98P	probably damaging	Het
Tmem30c	T	A	16: 57,290,898 (GRCm38)	M4L	probably benign	Het
Trim71	T	C	9: 114,513,253 (GRCm38)	I654V	possibly damaging	Het
Uroc1	A	G	6: 90,338,255 (GRCm38)	S133G	probably benign	Het
Vmn2r100	A	G	17: 19,521,254 (GRCm38)	N76S	possibly damaging	Het
Zcchc14	T	C	8: 121,603,895 (GRCm38)	S910G	probably damaging	Het

Other mutations in Blm

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01531:Blm	APN	7	80,474,071 (GRCm38)	missense	probably damaging	1.00
IGL01658:Blm	APN	7	80,463,941 (GRCm38)	missense	probably damaging	0.98
IGL02048:Blm	APN	7	80,502,961 (GRCm38)	splice site	probably benign
IGL02063:Blm	APN	7	80,509,419 (GRCm38)	nonsense	probably null
IGL02102:Blm	APN	7	80,469,756 (GRCm38)	missense	probably damaging	1.00
IGL02420:Blm	APN	7	80,496,006 (GRCm38)	missense	probably damaging	1.00
IGL02452:Blm	APN	7	80,503,377 (GRCm38)	splice site	probably null
IGL02566:Blm	APN	7	80,474,196 (GRCm38)	missense	probably damaging	1.00
IGL03387:Blm	APN	7	80,494,147 (GRCm38)	missense	probably damaging	1.00
FR4304:Blm	UTSW	7	80,512,919 (GRCm38)	small insertion	probably benign
FR4304:Blm	UTSW	7	80,463,773 (GRCm38)	frame shift	probably null
FR4340:Blm	UTSW	7	80,512,910 (GRCm38)	small insertion	probably benign
FR4340:Blm	UTSW	7	80,512,907 (GRCm38)	small insertion	probably benign
FR4340:Blm	UTSW	7	80,463,767 (GRCm38)	unclassified	probably benign
FR4449:Blm	UTSW	7	80,512,908 (GRCm38)	small insertion	probably benign
FR4548:Blm	UTSW	7	80,463,769 (GRCm38)	frame shift	probably null
FR4589:Blm	UTSW	7	80,463,770 (GRCm38)	frame shift	probably null
FR4737:Blm	UTSW	7	80,463,774 (GRCm38)	frame shift	probably null
FR4737:Blm	UTSW	7	80,463,771 (GRCm38)	frame shift	probably null
FR4976:Blm	UTSW	7	80,512,907 (GRCm38)	small insertion	probably benign
FR4976:Blm	UTSW	7	80,463,767 (GRCm38)	unclassified	probably benign
R0133:Blm	UTSW	7	80,502,367 (GRCm38)	missense	possibly damaging	0.93
R0194:Blm	UTSW	7	80,464,946 (GRCm38)	unclassified	probably benign
R0526:Blm	UTSW	7	80,505,893 (GRCm38)	nonsense	probably null
R0673:Blm	UTSW	7	80,499,751 (GRCm38)	critical splice donor site	probably null
R0972:Blm	UTSW	7	80,513,370 (GRCm38)	missense	probably benign
R0980:Blm	UTSW	7	80,499,958 (GRCm38)	splice site	probably null
R1120:Blm	UTSW	7	80,481,466 (GRCm38)	missense	probably damaging	1.00
R1301:Blm	UTSW	7	80,455,417 (GRCm38)	nonsense	probably null
R1769:Blm	UTSW	7	80,513,370 (GRCm38)	missense	probably benign
R1866:Blm	UTSW	7	80,494,114 (GRCm38)	missense	probably benign	0.08
R1874:Blm	UTSW	7	80,497,418 (GRCm38)	missense	probably damaging	1.00
R1966:Blm	UTSW	7	80,513,186 (GRCm38)	missense	possibly damaging	0.86
R1991:Blm	UTSW	7	80,505,949 (GRCm38)	splice site	probably null
R2013:Blm	UTSW	7	80,502,399 (GRCm38)	missense	probably damaging	0.99
R2014:Blm	UTSW	7	80,502,399 (GRCm38)	missense	probably damaging	0.99
R2015:Blm	UTSW	7	80,502,399 (GRCm38)	missense	probably damaging	0.99
R2016:Blm	UTSW	7	80,505,926 (GRCm38)	missense	probably benign	0.26
R2103:Blm	UTSW	7	80,505,949 (GRCm38)	splice site	probably null
R2161:Blm	UTSW	7	80,481,370 (GRCm38)	splice site	probably null
R2215:Blm	UTSW	7	80,499,847 (GRCm38)	missense	possibly damaging	0.69
R3689:Blm	UTSW	7	80,513,079 (GRCm38)	missense	possibly damaging	0.56
R4049:Blm	UTSW	7	80,502,862 (GRCm38)	missense	probably benign	0.04
R4155:Blm	UTSW	7	80,512,904 (GRCm38)	small deletion	probably benign
R4695:Blm	UTSW	7	80,494,228 (GRCm38)	missense	probably damaging	1.00
R4774:Blm	UTSW	7	80,463,848 (GRCm38)	missense	probably damaging	1.00
R4833:Blm	UTSW	7	80,466,826 (GRCm38)	missense	probably benign
R4835:Blm	UTSW	7	80,509,546 (GRCm38)	missense	probably benign	0.41
R4994:Blm	UTSW	7	80,458,825 (GRCm38)	missense	probably benign	0.00
R5039:Blm	UTSW	7	80,505,873 (GRCm38)	missense	possibly damaging	0.50
R5330:Blm	UTSW	7	80,458,936 (GRCm38)	missense	possibly damaging	0.73
R5375:Blm	UTSW	7	80,513,229 (GRCm38)	missense	probably benign	0.00
R5408:Blm	UTSW	7	80,502,622 (GRCm38)	missense	probably benign	0.01
R5574:Blm	UTSW	7	80,499,773 (GRCm38)	missense	probably damaging	1.00
R5606:Blm	UTSW	7	80,460,832 (GRCm38)	splice site	probably null
R5702:Blm	UTSW	7	80,458,927 (GRCm38)	missense	probably benign	0.13
R5809:Blm	UTSW	7	80,464,844 (GRCm38)	missense	probably damaging	1.00
R6114:Blm	UTSW	7	80,513,487 (GRCm38)	missense	probably damaging	1.00
R6157:Blm	UTSW	7	80,512,985 (GRCm38)	missense	probably benign	0.18
R6163:Blm	UTSW	7	80,512,904 (GRCm38)	small deletion	probably benign
R6254:Blm	UTSW	7	80,480,342 (GRCm38)	missense	probably benign	0.04
R6266:Blm	UTSW	7	80,499,940 (GRCm38)	missense	probably benign	0.03
R6364:Blm	UTSW	7	80,494,526 (GRCm38)	nonsense	probably null
R6446:Blm	UTSW	7	80,512,904 (GRCm38)	small deletion	probably benign
R6502:Blm	UTSW	7	80,481,475 (GRCm38)	missense	probably damaging	0.98
R6700:Blm	UTSW	7	80,463,850 (GRCm38)	missense	possibly damaging	0.91
R7002:Blm	UTSW	7	80,469,753 (GRCm38)	missense	probably benign	0.00
R7105:Blm	UTSW	7	80,499,768 (GRCm38)	missense	probably benign	0.44
R7320:Blm	UTSW	7	80,455,354 (GRCm38)	nonsense	probably null
R7465:Blm	UTSW	7	80,513,115 (GRCm38)	missense	probably benign	0.02
R7561:Blm	UTSW	7	80,502,528 (GRCm38)	missense	probably damaging	0.99
R8500:Blm	UTSW	7	80,455,284 (GRCm38)	missense	probably damaging	1.00
R8543:Blm	UTSW	7	80,494,216 (GRCm38)	missense	probably damaging	0.98
R8774-TAIL:Blm	UTSW	7	80,512,907 (GRCm38)	small insertion	probably benign
R8774-TAIL:Blm	UTSW	7	80,512,918 (GRCm38)	small insertion	probably benign
R8774-TAIL:Blm	UTSW	7	80,512,919 (GRCm38)	small insertion	probably benign
R8775-TAIL:Blm	UTSW	7	80,512,931 (GRCm38)	small insertion	probably benign
R8860:Blm	UTSW	7	80,494,528 (GRCm38)	missense	probably benign	0.30
R8928:Blm	UTSW	7	80,512,904 (GRCm38)	small deletion	probably benign
R9089:Blm	UTSW	7	80,513,119 (GRCm38)	missense	probably damaging	1.00
R9363:Blm	UTSW	7	80,458,915 (GRCm38)	missense	probably damaging	1.00
RF001:Blm	UTSW	7	80,512,927 (GRCm38)	small insertion	probably benign
RF001:Blm	UTSW	7	80,512,906 (GRCm38)	small insertion	probably benign
RF001:Blm	UTSW	7	80,512,903 (GRCm38)	small insertion	probably benign
RF002:Blm	UTSW	7	80,512,927 (GRCm38)	small insertion	probably benign
RF002:Blm	UTSW	7	80,512,905 (GRCm38)	small insertion	probably benign
RF007:Blm	UTSW	7	80,512,933 (GRCm38)	nonsense	probably null
RF016:Blm	UTSW	7	80,512,926 (GRCm38)	nonsense	probably null
RF018:Blm	UTSW	7	80,512,926 (GRCm38)	nonsense	probably null
RF027:Blm	UTSW	7	80,512,914 (GRCm38)	frame shift	probably null
RF028:Blm	UTSW	7	80,512,905 (GRCm38)	nonsense	probably null
RF031:Blm	UTSW	7	80,512,923 (GRCm38)	small insertion	probably benign
RF031:Blm	UTSW	7	80,512,906 (GRCm38)	small insertion	probably benign
RF032:Blm	UTSW	7	80,512,930 (GRCm38)	small insertion	probably benign
RF036:Blm	UTSW	7	80,512,914 (GRCm38)	nonsense	probably null
RF044:Blm	UTSW	7	80,512,930 (GRCm38)	small insertion	probably benign
RF053:Blm	UTSW	7	80,512,921 (GRCm38)	small insertion	probably benign
RF064:Blm	UTSW	7	80,512,923 (GRCm38)	nonsense	probably null
X0061:Blm	UTSW	7	80,458,850 (GRCm38)	missense	possibly damaging	0.89

Posted On

2014-05-07