Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01135:1110038F14Rik'

278207

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

1110038F14Rik

Ensembl Gene

ENSMUSG00000063236

Gene Name

RIKEN cDNA 1110038F14 gene

Synonyms

Accession Numbers

Essential gene?

Not available question?

Stock #

IGL01135

Quality Score

Status

Chromosome

Chromosomal Location

76948506-76950979 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 76950275 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Valine to Isoleucine at position 124 (V124I)

Ref Sequence

ENSEMBL: ENSMUSP00000154907 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000071792] [ENSMUST00000229229] [ENSMUST00000230274]

AlphaFold

no structure available at present

Predicted Effect

probably damaging
Transcript: ENSMUST00000071792
AA Change: V186I

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000071698
Gene: ENSMUSG00000063236
AA Change: V186I

Domain	Start	End	E-Value	Type
low complexity region	2	17	N/A	INTRINSIC
low complexity region	21	39	N/A	INTRINSIC
Pfam:DUF4615	102	221	4e-41	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000229229
AA Change: V123I

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

Predicted Effect

probably damaging
Transcript: ENSMUST00000230274
AA Change: V124I

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000231058

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 32 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
5730507C01Rik	G	A	12: 18,533,374	R145H	possibly damaging	Het
Acox3	T	A	5: 35,588,752	V93E	probably benign	Het
Ankar	T	C	1: 72,665,219	N848S	probably benign	Het
Blzf1	A	G	1: 164,303,930		probably benign	Het
Cc2d1a	G	T	8: 84,143,404	H161N	probably benign	Het
Cfap206	C	T	4: 34,721,562	S162N	probably damaging	Het
Ckmt1	A	C	2: 121,361,150	D267A	probably damaging	Het
Dtl	G	T	1: 191,548,330	T364K	probably damaging	Het
Fam46a	A	G	9: 85,326,599	V57A	probably damaging	Het
Fat1	T	A	8: 45,024,840	F2308I	probably damaging	Het
Fbxo41	A	T	6: 85,477,908	S673T	probably benign	Het
Flnb	G	A	14: 7,909,736	V1397I	probably benign	Het
Gdi2	A	G	13: 3,548,855		probably benign	Het
Gm5155	A	T	7: 17,902,471		noncoding transcript	Het
Grik3	C	T	4: 125,632,415	T147I	probably benign	Het
Htr1a	T	C	13: 105,445,284	V344A	possibly damaging	Het
Isg20l2	A	T	3: 87,931,761	D93V	probably damaging	Het
Kcnt2	T	C	1: 140,354,555		probably null	Het
Mfsd4b3	A	G	10: 39,948,072	M64T	probably benign	Het
Nox3	T	A	17: 3,696,252		probably benign	Het
Olfr693	C	T	7: 106,678,193	A98T	probably benign	Het
Pikfyve	T	A	1: 65,251,635	N1204K	probably damaging	Het
Pou4f3	C	T	18: 42,395,966	Q325*	probably null	Het
Rap1a	T	A	3: 105,732,035	T103S	probably benign	Het
Rfc4	G	A	16: 23,115,776	R165C	probably damaging	Het
Smtnl1	A	G	2: 84,818,887	S8P	probably benign	Het
Syt17	C	T	7: 118,382,047	G351S	possibly damaging	Het
Tcf20	T	A	15: 82,853,900	M1117L	probably benign	Het
Tgfbr3	A	T	5: 107,215,028	H39Q	probably damaging	Het
Trdmt1	T	C	2: 13,521,260		probably null	Het
Twf2	A	G	9: 106,212,828	I127V	probably benign	Het
Unc13c	A	G	9: 73,484,893	V2059A	probably damaging	Het

Other mutations in 1110038F14Rik

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01060:1110038F14Rik	APN	15	76950275	missense	probably damaging	1.00
IGL01063:1110038F14Rik	APN	15	76950275	missense	probably damaging	1.00
IGL01065:1110038F14Rik	APN	15	76950275	missense	probably damaging	1.00
IGL01066:1110038F14Rik	APN	15	76950275	missense	probably damaging	1.00
IGL01067:1110038F14Rik	APN	15	76950275	missense	probably damaging	1.00
IGL01069:1110038F14Rik	APN	15	76950275	missense	probably damaging	1.00
IGL01070:1110038F14Rik	APN	15	76950275	missense	probably damaging	1.00
IGL01128:1110038F14Rik	APN	15	76950275	missense	probably damaging	1.00
IGL01131:1110038F14Rik	APN	15	76950275	missense	probably damaging	1.00
IGL01132:1110038F14Rik	APN	15	76950275	missense	probably damaging	1.00
IGL01133:1110038F14Rik	APN	15	76950275	missense	probably damaging	1.00
IGL01134:1110038F14Rik	APN	15	76950275	missense	probably damaging	1.00
IGL01154:1110038F14Rik	APN	15	76950275	missense	probably damaging	1.00
IGL01155:1110038F14Rik	APN	15	76950275	missense	probably damaging	1.00
IGL02472:1110038F14Rik	APN	15	76950378	missense	probably damaging	0.98
ANU05:1110038F14Rik	UTSW	15	76950275	missense	probably damaging	1.00
R1845:1110038F14Rik	UTSW	15	76949663	small insertion	probably benign
R4023:1110038F14Rik	UTSW	15	76949663	small insertion	probably benign

Posted On

2015-04-16