Mutagenetix > Incidental Mutations

Incidental Mutation 'IGL00824:4931408C20Rik'

8476

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

4931408C20Rik

Ensembl Gene

ENSMUSG00000073722

Gene Name

RIKEN cDNA 4931408C20 gene

Synonyms

Accession Numbers

Is this an essential gene?

Non essential (E-score: 0.000) question?

Stock #

IGL00824

Quality Score

Status

Chromosome

Chromosomal Location

26681814-26687460 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 26683589 bp

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Valine at position 837 (I837V)

Ref Sequence

ENSEMBL: ENSMUSP00000095410 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000097801]

Predicted Effect

possibly damaging
Transcript: ENSMUST00000097801
AA Change: I837V

PolyPhen 2 Score 0.483 (Sensitivity: 0.89; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000095410
Gene: ENSMUSG00000073722
AA Change: I837V

Domain	Start	End	E-Value	Type
transmembrane domain	20	42	N/A	INTRINSIC
Pfam:FAM75	128	474	4.6e-28	PFAM
internal_repeat_1	939	1112	4.27e-16	PROSPERO
internal_repeat_1	1204	1376	4.27e-16	PROSPERO

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 18 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Atl1	A	G	12: 69,932,238	T147A	probably damaging	Het
Cdh17	A	G	4: 11,784,675	K277R	probably benign	Het
Cyp2j5	A	G	4: 96,663,923	F30L	probably benign	Het
Hmcn1	A	T	1: 150,656,734	V3134E	probably damaging	Het
Il2ra	T	C	2: 11,683,099	V230A	probably benign	Het
Mgst2	C	T	3: 51,682,578	P146S	probably benign	Het
Myrfl	T	C	10: 116,849,359		probably benign	Het
Nat8f5	A	C	6: 85,817,297	L227R	probably damaging	Het
Osbpl2	G	A	2: 180,150,267	V255M	probably benign	Het
Papln	A	G	12: 83,770,436	S27G	possibly damaging	Het
Paqr7	A	G	4: 134,506,967	Y45C	probably damaging	Het
Pkhd1	A	G	1: 20,081,184		probably null	Het
Plrg1	C	T	3: 83,068,335	T295I	probably damaging	Het
Sypl	T	A	12: 32,965,506		probably benign	Het
Tmco3	T	A	8: 13,292,825	V187E	probably damaging	Het
Trmt2b	T	C	X: 134,267,405	I47M	possibly damaging	Het
Vmn2r61	T	A	7: 42,267,014	N350K	probably benign	Het
Zfp687	A	G	3: 95,009,185	L842P	probably damaging	Het

Other mutations in 4931408C20Rik

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00540:4931408C20Rik	APN	1	26684977	missense	probably benign	0.00
IGL00575:4931408C20Rik	APN	1	26682932	missense	possibly damaging	0.51
IGL00656:4931408C20Rik	APN	1	26682901	missense	possibly damaging	0.71
IGL00671:4931408C20Rik	APN	1	26684859	missense	possibly damaging	0.50
IGL00777:4931408C20Rik	APN	1	26682092	missense	probably damaging	1.00
IGL01018:4931408C20Rik	APN	1	26682910	missense	probably damaging	0.99
IGL01148:4931408C20Rik	APN	1	26685172	missense	probably benign	0.22
IGL01631:4931408C20Rik	APN	1	26685414	missense	probably damaging	0.98
IGL01901:4931408C20Rik	APN	1	26682584	missense	probably benign	0.13
IGL01957:4931408C20Rik	APN	1	26685259	missense	probably damaging	0.98
IGL02031:4931408C20Rik	APN	1	26685023	missense	probably damaging	0.99
IGL02596:4931408C20Rik	APN	1	26684002	missense	probably benign	0.00
PIT4486001:4931408C20Rik	UTSW	1	26685329	missense	probably damaging	0.99
R0026:4931408C20Rik	UTSW	1	26683369	missense	probably benign	0.00
R0026:4931408C20Rik	UTSW	1	26683369	missense	probably benign	0.00
R0043:4931408C20Rik	UTSW	1	26683802	missense	possibly damaging	0.72
R0141:4931408C20Rik	UTSW	1	26683782	missense	probably benign	0.00
R0145:4931408C20Rik	UTSW	1	26687332	missense	probably benign	0.00
R0158:4931408C20Rik	UTSW	1	26683951	missense	probably damaging	0.98
R0325:4931408C20Rik	UTSW	1	26685266	missense	possibly damaging	0.91
R0627:4931408C20Rik	UTSW	1	26685889	missense	probably benign	0.00
R0733:4931408C20Rik	UTSW	1	26682932	missense	possibly damaging	0.51
R1033:4931408C20Rik	UTSW	1	26682385	missense	probably benign
R1074:4931408C20Rik	UTSW	1	26683226	missense	probably benign	0.00
R1108:4931408C20Rik	UTSW	1	26682466	missense	possibly damaging	0.85
R1139:4931408C20Rik	UTSW	1	26682665	missense	probably benign	0.04
R1326:4931408C20Rik	UTSW	1	26683930	missense	probably damaging	1.00
R1398:4931408C20Rik	UTSW	1	26685341	missense	possibly damaging	0.82
R1422:4931408C20Rik	UTSW	1	26682466	missense	possibly damaging	0.85
R1463:4931408C20Rik	UTSW	1	26682141	nonsense	probably null
R1485:4931408C20Rik	UTSW	1	26685880	missense	possibly damaging	0.92
R1568:4931408C20Rik	UTSW	1	26685869	missense	probably benign	0.01
R1603:4931408C20Rik	UTSW	1	26685569	missense	probably damaging	0.99
R1605:4931408C20Rik	UTSW	1	26684430	missense	possibly damaging	0.92
R1795:4931408C20Rik	UTSW	1	26682989	nonsense	probably null
R1945:4931408C20Rik	UTSW	1	26682314	missense	probably benign	0.04
R1967:4931408C20Rik	UTSW	1	26683373	missense	probably benign	0.02
R2055:4931408C20Rik	UTSW	1	26685732	missense	possibly damaging	0.86
R2093:4931408C20Rik	UTSW	1	26682141	nonsense	probably null
R2131:4931408C20Rik	UTSW	1	26685854	missense	probably benign	0.11
R2237:4931408C20Rik	UTSW	1	26685160	missense	possibly damaging	0.82
R2314:4931408C20Rik	UTSW	1	26684702	missense	probably benign	0.00
R2407:4931408C20Rik	UTSW	1	26682838	missense	possibly damaging	0.86
R2993:4931408C20Rik	UTSW	1	26685828	missense	possibly damaging	0.83
R4245:4931408C20Rik	UTSW	1	26682080	missense	probably benign	0.00
R4567:4931408C20Rik	UTSW	1	26683117	missense	probably benign
R4605:4931408C20Rik	UTSW	1	26683186	missense	probably benign	0.45
R4708:4931408C20Rik	UTSW	1	26684440	missense	possibly damaging	0.92
R4827:4931408C20Rik	UTSW	1	26685842	missense	possibly damaging	0.91
R4839:4931408C20Rik	UTSW	1	26685359	missense	probably benign	0.11
R4888:4931408C20Rik	UTSW	1	26683547	missense	probably benign	0.00
R5075:4931408C20Rik	UTSW	1	26683052	missense	probably damaging	0.99
R5101:4931408C20Rik	UTSW	1	26683336	missense	possibly damaging	0.92
R5231:4931408C20Rik	UTSW	1	26683951	missense	possibly damaging	0.79
R5310:4931408C20Rik	UTSW	1	26685088	missense	probably benign	0.00
R5459:4931408C20Rik	UTSW	1	26685191	missense	probably damaging	0.96
R5520:4931408C20Rik	UTSW	1	26685819	missense	probably benign	0.00
R5608:4931408C20Rik	UTSW	1	26683048	missense	probably damaging	0.97
R5960:4931408C20Rik	UTSW	1	26683144	missense	probably benign	0.34
R6128:4931408C20Rik	UTSW	1	26685425	missense	probably benign	0.38
R6188:4931408C20Rik	UTSW	1	26685703	missense	probably damaging	0.99
R6319:4931408C20Rik	UTSW	1	26685401	missense	probably benign	0.38
R6339:4931408C20Rik	UTSW	1	26682505	missense	probably benign	0.01
R6431:4931408C20Rik	UTSW	1	26684030	missense	probably benign	0.11
R6456:4931408C20Rik	UTSW	1	26685169	missense	probably damaging	0.99
R6562:4931408C20Rik	UTSW	1	26682362	missense	possibly damaging	0.91
R6645:4931408C20Rik	UTSW	1	26683117	missense	probably benign	0.06
R6647:4931408C20Rik	UTSW	1	26682578	missense	probably damaging	0.99
R6919:4931408C20Rik	UTSW	1	26682934	missense	probably benign	0.15
R7085:4931408C20Rik	UTSW	1	26683465	missense	possibly damaging	0.95
R7183:4931408C20Rik	UTSW	1	26682833	missense	probably benign	0.27
R7347:4931408C20Rik	UTSW	1	26684467	missense	probably benign	0.02
R7488:4931408C20Rik	UTSW	1	26683958	missense	possibly damaging	0.77
R7565:4931408C20Rik	UTSW	1	26685270	missense	probably benign	0.00
R7726:4931408C20Rik	UTSW	1	26684498	missense	probably benign	0.08
X0025:4931408C20Rik	UTSW	1	26682505	missense	probably benign	0.00
X0061:4931408C20Rik	UTSW	1	26682569	missense	possibly damaging	0.91

Posted On

2012-12-06