Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL03124:BC003331'

410095

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

BC003331

Ensembl Gene

ENSMUSG00000006010

Gene Name

cDNA sequence BC003331

Synonyms

Accession Numbers

Is this an essential gene?

Probably essential (E-score: 0.802) question?

Stock #

IGL03124

Quality Score

Status

Chromosome

Chromosomal Location

150361305-150393080 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 150386425 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 88 (V88A)

Ref Sequence

ENSEMBL: ENSMUSP00000107544 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000006167] [ENSMUST00000094477] [ENSMUST00000097546] [ENSMUST00000097547] [ENSMUST00000111913]

AlphaFold

Q4PJX1

Predicted Effect

probably benign
Transcript: ENSMUST00000006167
AA Change: V88A

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)

SMART Domains

Protein: ENSMUSP00000006167
Gene: ENSMUSG00000006010
AA Change: V88A

Domain	Start	End	E-Value	Type
Pfam:ODR4-like	28	364	1.8e-107	PFAM
transmembrane domain	402	424	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000094477
AA Change: V88A

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)

SMART Domains

Protein: ENSMUSP00000092050
Gene: ENSMUSG00000006010
AA Change: V88A

Domain	Start	End	E-Value	Type
Pfam:ODR4-like	28	383	2.8e-120	PFAM
transmembrane domain	424	446	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000097546
AA Change: V88A

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)

SMART Domains

Protein: ENSMUSP00000095152
Gene: ENSMUSG00000006010
AA Change: V88A

Domain	Start	End	E-Value	Type
Pfam:ODR4-like	28	364	1.8e-107	PFAM
transmembrane domain	402	424	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000097547
AA Change: V88A

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)

SMART Domains

Protein: ENSMUSP00000095153
Gene: ENSMUSG00000006010
AA Change: V88A

Domain	Start	End	E-Value	Type
Pfam:ODR4-like	28	209	1.2e-57	PFAM
Pfam:ODR4-like	206	354	3.1e-43	PFAM
transmembrane domain	392	414	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000111913
AA Change: V88A

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)

SMART Domains

Protein: ENSMUSP00000107544
Gene: ENSMUSG00000006010
AA Change: V88A

Domain	Start	End	E-Value	Type
Pfam:ODR4-like	28	386	7.1e-113	PFAM
transmembrane domain	424	446	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000132809

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000140112

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000148389

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000150615

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 44 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1110017D15Rik	T	C	4: 41,507,287	N170D	possibly damaging	Het
1700018B08Rik	C	A	8: 121,541,710		probably benign	Het
4931414P19Rik	A	G	14: 54,595,139	V193A	probably benign	Het
Acap3	T	C	4: 155,905,033	S645P	probably benign	Het
Alms1	A	G	6: 85,678,419	I3316V	probably benign	Het
Apc	T	G	18: 34,299,985	H424Q	probably damaging	Het
Camsap2	A	T	1: 136,274,799		probably null	Het
Car13	C	T	3: 14,656,940	P182L	possibly damaging	Het
Ccdc87	T	G	19: 4,841,054	S525A	probably damaging	Het
Ces1f	T	C	8: 93,275,384	N39D	probably benign	Het
Cyp2j13	C	A	4: 96,061,922	A281S	possibly damaging	Het
Cyp4f15	G	A	17: 32,685,812		probably null	Het
Fam208b	A	T	13: 3,574,704	Y1749N	probably benign	Het
Fat4	C	A	3: 38,981,552	R3118S	possibly damaging	Het
Glg1	C	T	8: 111,200,171	V171M	probably damaging	Het
Hivep1	G	T	13: 42,158,904	G1540V	possibly damaging	Het
Ighm	T	C	12: 113,421,638	D234G	unknown	Het
Igsf10	T	C	3: 59,319,665	T2196A	probably benign	Het
Kctd19	T	A	8: 105,387,070	Q657L	possibly damaging	Het
Klhl40	T	A	9: 121,780,685	I512N	probably damaging	Het
Lima1	A	T	15: 99,796,734		probably benign	Het
Map2k4	A	C	11: 65,690,791	I365S	probably damaging	Het
Mast4	T	A	13: 102,738,245	K1346N	probably damaging	Het
Met	T	A	6: 17,492,078	F280I	probably benign	Het
Ncapg	A	G	5: 45,671,209	T101A	probably benign	Het
Nup214	T	C	2: 31,996,440	F605L	probably benign	Het
Olfr291	T	A	7: 84,856,723	M118K	probably damaging	Het
Olfr639	G	T	7: 104,011,794	Q303K	probably benign	Het
Olfr873	T	A	9: 20,301,163	M322K	probably benign	Het
Pck2	C	T	14: 55,545,333	T373I	probably damaging	Het
Pcna	C	T	2: 132,251,753	E109K	probably benign	Het
Pecr	A	C	1: 72,277,340	S69A	probably benign	Het
Pitpnb	A	G	5: 111,330,830	E6G	possibly damaging	Het
Pkd1l2	G	A	8: 117,065,745	T436I	probably benign	Het
Plbd2	A	T	5: 120,493,077	F212I	possibly damaging	Het
Rfk	T	A	19: 17,398,595	H84Q	possibly damaging	Het
Scp2	T	A	4: 108,063,906	I36F	probably damaging	Het
Slc9a4	A	G	1: 40,580,735	T74A	probably damaging	Het
St6galnac1	G	A	11: 116,775,299	A35V	probably benign	Het
Tmem8	G	A	17: 26,116,834	R65Q	probably damaging	Het
Trav17	T	C	14: 53,806,649	V4A	probably benign	Het
Vmn1r57	A	T	7: 5,221,022	H182L	possibly damaging	Het
Vwa8	A	T	14: 79,058,815		probably benign	Het
Zgpat	A	G	2: 181,366,180	Y170C	probably benign	Het

Other mutations in BC003331

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01876:BC003331	APN	1	150382338	missense	probably benign	0.10
IGL02189:BC003331	APN	1	150372033	missense	possibly damaging	0.94
IGL02257:BC003331	APN	1	150386404	missense	probably damaging	0.99
IGL02485:BC003331	APN	1	150363489	critical splice donor site	probably null
IGL02585:BC003331	APN	1	150363521	missense	probably damaging	0.96
IGL02712:BC003331	APN	1	150386356	critical splice donor site	probably null
IGL02902:BC003331	APN	1	150384428	critical splice donor site	probably null
IGL03014:BC003331	APN	1	150383053	splice site	probably benign
IGL03181:BC003331	APN	1	150363539	missense	probably benign	0.06
IGL03344:BC003331	APN	1	150363544	missense	probably damaging	0.99
R1170:BC003331	UTSW	1	150386391	missense	probably benign	0.00
R1796:BC003331	UTSW	1	150375554	missense	probably benign
R1902:BC003331	UTSW	1	150388609	splice site	probably null
R2149:BC003331	UTSW	1	150388559	missense	probably benign	0.05
R2155:BC003331	UTSW	1	150382335	missense	possibly damaging	0.68
R2375:BC003331	UTSW	1	150390234	critical splice donor site	probably null
R3786:BC003331	UTSW	1	150384531	missense	probably benign	0.21
R3948:BC003331	UTSW	1	150388557	nonsense	probably null
R4589:BC003331	UTSW	1	150384487	missense	probably benign	0.11
R4590:BC003331	UTSW	1	150386352	splice site	probably null
R4815:BC003331	UTSW	1	150374846	missense	probably damaging	0.99
R5196:BC003331	UTSW	1	150382389	missense	probably damaging	1.00
R5437:BC003331	UTSW	1	150363518	missense	probably benign	0.01
R5549:BC003331	UTSW	1	150372158	missense	possibly damaging	0.86
R5677:BC003331	UTSW	1	150374837	missense	probably damaging	1.00
R5896:BC003331	UTSW	1	150380360	missense	probably benign	0.10
R6472:BC003331	UTSW	1	150381522	missense	probably benign	0.15
R7108:BC003331	UTSW	1	150382290	missense	probably benign	0.01
R7402:BC003331	UTSW	1	150386356	critical splice donor site	probably null
R7662:BC003331	UTSW	1	150382294	missense	probably benign
R7767:BC003331	UTSW	1	150372037	missense	probably benign	0.00
R7810:BC003331	UTSW	1	150392908	utr 5 prime	probably benign
R7916:BC003331	UTSW	1	150384498	missense	probably benign	0.01
R8114:BC003331	UTSW	1	150388557	nonsense	probably null
R8120:BC003331	UTSW	1	150384426	splice site	probably null
R8435:BC003331	UTSW	1	150382269	missense	possibly damaging	0.90
R9397:BC003331	UTSW	1	150362865	missense	probably damaging	1.00

Posted On

2016-08-02