Mutagenetix > Incidental Mutation

Incidental Mutation 'R4833:Blm'

372988

Institutional Source

Beutler Lab

Gene Symbol

Blm

Ensembl Gene

ENSMUSG00000030528

Gene Name

Bloom syndrome, RecQ like helicase

Synonyms

MMRRC Submission

042449-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R4833 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

80454733-80535119 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 80466826 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Leucine at position 1111 (I1111L)

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: I1108L

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000080062
Gene: ENSMUSG00000030528
AA Change: I1108L

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: I1111L

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000127995
Gene: ENSMUSG00000030528
AA Change: I1111L

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000205713

Predicted Effect

probably benign
Transcript: ENSMUST00000205730

Predicted Effect

probably benign
Transcript: ENSMUST00000206901

Meta Mutation Damage Score

0.1207

Coding Region Coverage

1x: 99.2%
3x: 98.5%
10x: 96.8%
20x: 93.8%

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: 64 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1810055G02Rik	C	A	19: 3,716,872 (GRCm38)	T153K	possibly damaging	Het
4932438A13Rik	A	G	3: 36,964,968 (GRCm38)	I2007V	probably damaging	Het
Abca5	A	C	11: 110,279,316 (GRCm38)	Y1318D	probably benign	Het
Adam18	A	G	8: 24,674,101 (GRCm38)	I22T	probably benign	Het
Adgrv1	T	A	13: 81,560,844 (GRCm38)	H1147L	possibly damaging	Het
Ankrd2	T	C	19: 42,043,857 (GRCm38)		probably null	Het
Bdkrb2	T	C	12: 105,591,658 (GRCm38)	W53R	probably benign	Het
Bmp3	T	G	5: 98,855,207 (GRCm38)	L32R	probably damaging	Het
Cdh23	T	G	10: 60,385,038 (GRCm38)	E1312A	probably damaging	Het
Ceacam5	C	T	7: 17,752,258 (GRCm38)	T560M	probably benign	Het
Cmtm8	C	A	9: 114,796,165 (GRCm38)	R66I	probably benign	Het
Cnbd1	A	G	4: 18,862,120 (GRCm38)	Y357H	probably damaging	Het
Col4a4	A	T	1: 82,529,602 (GRCm38)	V252E	unknown	Het
Col6a4	A	T	9: 106,071,979 (GRCm38)	M819K	probably benign	Het
Cwf19l2	T	C	9: 3,430,783 (GRCm38)	S372P	probably benign	Het
Daam2	A	T	17: 49,490,145 (GRCm38)	I204N	possibly damaging	Het
Dock6	T	C	9: 21,844,280 (GRCm38)	D216G	probably damaging	Het
Epha5	C	T	5: 84,105,891 (GRCm38)	D548N	possibly damaging	Het
Erich2	T	C	2: 70,534,292 (GRCm38)	Y311H	possibly damaging	Het
Gm3985	A	G	8: 32,890,477 (GRCm38)		noncoding transcript	Het
Gnb1	A	G	4: 155,543,067 (GRCm38)	T102A	possibly damaging	Het
Hcfc2	C	T	10: 82,709,146 (GRCm38)	A204V	probably null	Het
Hnrnpu	T	C	1: 178,333,894 (GRCm38)		probably benign	Het
Htt	A	G	5: 34,852,225 (GRCm38)	T1517A	probably damaging	Het
Klhl6	T	A	16: 19,957,139 (GRCm38)	D223V	probably damaging	Het
Kpna6	A	G	4: 129,657,779 (GRCm38)	S71P	possibly damaging	Het
Lama3	A	G	18: 12,441,131 (GRCm38)	D590G	probably benign	Het
Lipt1	T	G	1: 37,875,529 (GRCm38)	L222R	probably damaging	Het
Lrrc41	A	G	4: 116,093,177 (GRCm38)		probably benign	Het
Lrrc59	T	C	11: 94,634,672 (GRCm38)	V98A	probably benign	Het
Mast4	A	G	13: 102,774,184 (GRCm38)		probably null	Het
Mdc1	C	T	17: 35,850,394 (GRCm38)	S733F	probably benign	Het
Mknk1	C	T	4: 115,878,186 (GRCm38)		probably benign	Het
Mtmr7	A	G	8: 40,590,462 (GRCm38)	F141S	probably damaging	Het
Myo15b	A	G	11: 115,887,602 (GRCm38)	D1G	possibly damaging	Het
Odf3	T	C	7: 140,848,278 (GRCm38)	M1T	probably null	Het
Olfr1356	T	G	10: 78,847,575 (GRCm38)	L113F	probably damaging	Het
Phkb	T	A	8: 85,901,911 (GRCm38)	V183E	probably damaging	Het
Pola2	T	C	19: 5,953,864 (GRCm38)	Y161C	probably damaging	Het
Psen1	G	A	12: 83,731,778 (GRCm38)	V412I	probably benign	Het
Psmc4	C	A	7: 28,047,512 (GRCm38)	G77V	probably damaging	Het
Psmd3	A	G	11: 98,687,760 (GRCm38)	Y207C	probably damaging	Het
Pxk	T	A	14: 8,130,653 (GRCm38)	M84K	probably damaging	Het
Rab44	A	C	17: 29,136,337 (GRCm38)	Q19P	probably damaging	Het
Rbks	A	G	5: 31,624,515 (GRCm38)	Y314H	probably benign	Het
Rftn2	T	C	1: 55,214,240 (GRCm38)	D68G	possibly damaging	Het
Rims2	T	A	15: 39,535,914 (GRCm38)	S838R	probably damaging	Het
Sdc4	A	T	2: 164,431,218 (GRCm38)	D57E	probably damaging	Het
Slfn14	A	G	11: 83,279,156 (GRCm38)	L554P	probably damaging	Het
Spink2	G	T	5: 77,205,392 (GRCm38)	D83E	possibly damaging	Het
Srsf4	C	T	4: 131,900,102 (GRCm38)		probably benign	Het
Taar8b	A	T	10: 24,092,132 (GRCm38)	S55T	possibly damaging	Het
Tbca	A	G	13: 94,832,410 (GRCm38)	E35G	probably benign	Het
Tmc5	C	A	7: 118,628,829 (GRCm38)	H307Q	probably benign	Het
Tmem169	A	G	1: 72,298,152 (GRCm38)	D82G	probably benign	Het
Tmem72	T	C	6: 116,698,358 (GRCm38)	T58A	probably benign	Het
Ttc7	C	T	17: 87,334,321 (GRCm38)	P449S	probably damaging	Het
Ttf2	T	C	3: 100,961,406 (GRCm38)	E449G	probably benign	Het
Ubr4	C	A	4: 139,402,546 (GRCm38)	T659K	probably damaging	Het
Wdr1	A	G	5: 38,547,029 (GRCm38)	Y98H	probably damaging	Het
Wfikkn2	A	G	11: 94,239,052 (GRCm38)	Y88H	probably benign	Het
Zfp384	A	T	6: 125,030,848 (GRCm38)	H247L	probably damaging	Het
Zfp526	C	T	7: 25,225,870 (GRCm38)	A518V	probably damaging	Het
Zfp788	T	A	7: 41,647,568 (GRCm38)	H47Q	probably benign	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
IGL02060:Blm	APN	7	80,514,580 (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
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

Predicted Primers

PCR Primer
(F):5'- GCACTTATAACCACTTCCTTAGATG -3'
(R):5'- GCGTGGAAACGAATTCTAAGTTTTACC -3'

Sequencing Primer
(F):5'- GTGAATACACTGTAGCTGTCAGACAC -3'
(R):5'- TTACCATACCATTAAGCTCCAGTG -3'

Posted On

2016-03-01