Mutagenetix > Incidental Mutation

Incidental Mutation 'R0010:BC037034'

8128

Institutional Source

Beutler Lab

Gene Symbol

BC037034

Ensembl Gene

ENSMUSG00000036948

Gene Name

cDNA sequence BC037034

Synonyms

MMRRC Submission

038305-MU

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.081) question?

Stock #

R0010 (G1)

Quality Score

Status

Validated

Chromosome

Chromosomal Location

138259656-138264033 bp(-) (GRCm38)

Type of Mutation

splice site (4628 bp from exon)

DNA Base Change (assembly)

T to C at 138260293 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000125084 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000048421] [ENSMUST00000062067] [ENSMUST00000100530] [ENSMUST00000159067] [ENSMUST00000159123] [ENSMUST00000159146] [ENSMUST00000159649] [ENSMUST00000161647] [ENSMUST00000161279]

AlphaFold

no structure available at present

Predicted Effect

probably benign
Transcript: ENSMUST00000048421
AA Change: D564G

PolyPhen 2 Score 0.074 (Sensitivity: 0.93; Specificity: 0.85)

SMART Domains

Protein: ENSMUSP00000046898
Gene: ENSMUSG00000036948
AA Change: D564G

Domain	Start	End	E-Value	Type
low complexity region	53	71	N/A	INTRINSIC
low complexity region	75	93	N/A	INTRINSIC
low complexity region	95	114	N/A	INTRINSIC
low complexity region	215	225	N/A	INTRINSIC
low complexity region	488	502	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000062067

Predicted Effect

probably null
Transcript: ENSMUST00000100530

SMART Domains

Protein: ENSMUSP00000098099
Gene: ENSMUSG00000075593

Domain	Start	End	E-Value	Type
Pfam:Gal-3-0_sulfotr	2	231	1.1e-57	PFAM
Pfam:Gal-3-0_sulfotr	270	463	1e-54	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000124298

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000125662

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000141454

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000144460

Predicted Effect

probably benign
Transcript: ENSMUST00000159067

SMART Domains

Protein: ENSMUSP00000125178
Gene: ENSMUSG00000106247

Domain	Start	End	E-Value	Type
Pfam:Glypican	7	250	1e-90	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000159123

SMART Domains

Protein: ENSMUSP00000137679
Gene: ENSMUSG00000036948

Domain	Start	End	E-Value	Type
low complexity region	53	71	N/A	INTRINSIC
low complexity region	75	93	N/A	INTRINSIC
low complexity region	95	114	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000159146

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000159534

Predicted Effect

probably benign
Transcript: ENSMUST00000164203
AA Change: D564G

PolyPhen 2 Score 0.060 (Sensitivity: 0.94; Specificity: 0.84)

SMART Domains

Protein: ENSMUSP00000127440
Gene: ENSMUSG00000091964
AA Change: D564G

Domain	Start	End	E-Value	Type
low complexity region	53	71	N/A	INTRINSIC
low complexity region	75	93	N/A	INTRINSIC
low complexity region	95	114	N/A	INTRINSIC
Pfam:DUF4707	139	579	4.7e-252	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000159649
AA Change: D295G

PolyPhen 2 Score 0.982 (Sensitivity: 0.75; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000125208
Gene: ENSMUSG00000036948
AA Change: D295G

Domain	Start	End	E-Value	Type
low complexity region	219	233	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000162632

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000160157

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000162557

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000159872

Predicted Effect

probably null
Transcript: ENSMUST00000161647

SMART Domains

Protein: ENSMUSP00000125084
Gene: ENSMUSG00000075593

Domain	Start	End	E-Value	Type
Pfam:Gal-3-0_sulfotr	4	226	5.3e-58	PFAM
Pfam:Gal-3-0_sulfotr	265	458	3.8e-55	PFAM

Predicted Effect

probably null
Transcript: ENSMUST00000161279

SMART Domains

Protein: ENSMUSP00000124841
Gene: ENSMUSG00000075593

Domain	Start	End	E-Value	Type
Pfam:Gal-3-0_sulfotr	2	231	1.1e-57	PFAM
Pfam:Gal-3-0_sulfotr	270	463	1e-54	PFAM

Meta Mutation Damage Score

0.1392

Coding Region Coverage

1x: 79.6%
3x: 70.9%
10x: 47.0%
20x: 26.4%

Validation Efficiency

91% (78/86)

Allele List at MGI

Other mutations in this stock

Total: 32 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adgrl3	C	T	5: 81,792,403	A1320V	possibly damaging	Het
Ahrr	G	A	13: 74,283,024		probably benign	Het
Cd74	A	T	18: 60,809,071	H124L	probably benign	Het
Cdk5rap2	T	C	4: 70,243,459	E270G	probably benign	Het
Cldnd1	T	A	16: 58,731,259		probably benign	Het
Dennd4a	T	C	9: 64,896,715	L1112P	probably benign	Het
Evc2	T	A	5: 37,417,449	L1016Q	probably damaging	Het
Fam135b	T	C	15: 71,622,032	K16R	probably damaging	Het
Frem1	T	C	4: 83,000,098	I536V	probably benign	Het
Ginm1	T	C	10: 7,775,374		probably benign	Het
Glrb	A	T	3: 80,860,315		probably benign	Het
Glt6d1	C	A	2: 25,794,727		probably null	Het
Gm10320	T	C	13: 98,489,546	Y110C	probably damaging	Het
Intu	T	C	3: 40,654,272		probably benign	Het
Ltbp1	A	G	17: 75,363,391	T1476A	probably damaging	Het
Mcoln2	C	T	3: 146,183,561	T374M	probably damaging	Het
Mitf	A	G	6: 97,807,281	K33R	probably benign	Het
Nlgn1	G	T	3: 25,435,842		probably benign	Het
Nup133	A	T	8: 123,904,579	I1072N	probably damaging	Het
Rock1	T	A	18: 10,084,380	D951V	probably damaging	Het
Scgb2b26	T	A	7: 33,944,349	E55D	probably damaging	Het
Scn8a	T	C	15: 101,013,573	V958A	probably damaging	Het
Sgk1	G	A	10: 21,997,438		probably null	Het
Shprh	C	T	10: 11,151,931	T94I	probably benign	Het
Smg1	A	T	7: 118,171,859		probably benign	Het
Spta1	G	A	1: 174,217,943	V1556I	probably benign	Het
Trappc4	G	A	9: 44,405,231		probably benign	Het
Txlna	T	G	4: 129,629,086	D487A	probably benign	Het
Ube2d2b	T	C	5: 107,830,636	F51S	possibly damaging	Het
Wdfy3	T	C	5: 101,848,349	T3234A	probably damaging	Het
Zbtb41	T	G	1: 139,423,530	V127G	probably damaging	Het
Zfp608	A	T	18: 54,895,214		probably benign	Het

Other mutations in BC037034

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00517:BC037034	APN	5	138261705	missense	possibly damaging	0.46
IGL01617:BC037034	APN	5	138262216	missense	probably damaging	1.00
IGL02256:BC037034	APN	5	138260315	missense	probably damaging	0.99
IGL02493:BC037034	APN	5	138263170	splice site	probably null
IGL02904:BC037034	APN	5	138260602	missense	probably benign	0.04
IGL03151:BC037034	APN	5	138262672	missense	possibly damaging	0.95
R0005:BC037034	UTSW	5	138262654	splice site	probably null
R0010:BC037034	UTSW	5	138260293	splice site	probably null
R0619:BC037034	UTSW	5	138263826	unclassified	probably benign
R0630:BC037034	UTSW	5	138262289	missense	probably damaging	0.98
R1579:BC037034	UTSW	5	138261866	missense	probably benign	0.00
R1778:BC037034	UTSW	5	138262477	splice site	probably null
R1816:BC037034	UTSW	5	138260341	missense	possibly damaging	0.91
R2009:BC037034	UTSW	5	138260929	missense	probably damaging	1.00
R4711:BC037034	UTSW	5	138262905	unclassified	probably benign
R4923:BC037034	UTSW	5	138262379	unclassified	probably benign
R4999:BC037034	UTSW	5	138261622	missense	probably damaging	1.00
R5103:BC037034	UTSW	5	138262300	missense	probably benign	0.15
R5221:BC037034	UTSW	5	138262240	missense	probably benign	0.14
R5444:BC037034	UTSW	5	138260998	splice site	probably null
R5720:BC037034	UTSW	5	138263702	missense	probably benign	0.00
R6519:BC037034	UTSW	5	138261848	missense	probably damaging	0.99
R6599:BC037034	UTSW	5	138263458	splice site	probably null
R6918:BC037034	UTSW	5	138260664	missense	probably benign	0.03
R7275:BC037034	UTSW	5	138263577	missense	probably benign	0.18
R7460:BC037034	UTSW	5	138262729	missense	probably benign	0.32
R7564:BC037034	UTSW	5	138262842	splice site	probably null
R8745:BC037034	UTSW	5	138263065	critical splice donor site	probably null
R9043:BC037034	UTSW	5	138261627	missense	possibly damaging	0.84
R9057:BC037034	UTSW	5	138262687	missense	probably damaging	1.00
R9540:BC037034	UTSW	5	138261865	missense	probably benign	0.28
R9607:BC037034	UTSW	5	138261600	missense	probably damaging	1.00
R9798:BC037034	UTSW	5	138261678	missense	possibly damaging	0.48

Posted On

2012-11-20