Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01070:1110038F14Rik'

278149

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 #

IGL01070

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: 35 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adamts5	T	C	16: 85,863,133	H757R	probably damaging	Het
Aen	G	A	7: 78,907,302	M299I	probably damaging	Het
Akap3	A	T	6: 126,865,879	E487V	possibly damaging	Het
Bicd2	T	C	13: 49,378,316	S271P	probably damaging	Het
Cfap206	C	T	4: 34,721,562	S162N	probably damaging	Het
Cma1	A	G	14: 55,942,697	S71P	probably benign	Het
Cspp1	T	C	1: 10,088,145	Y494H	probably damaging	Het
Cyp39a1	A	G	17: 43,683,022	K191R	probably benign	Het
Efr3a	G	A	15: 65,853,078	V507I	probably benign	Het
Fam178b	C	T	1: 36,564,403	R489Q	possibly damaging	Het
Kcnj4	A	G	15: 79,484,579	L400P	probably benign	Het
Kif27	A	G	13: 58,344,093	Y411H	probably damaging	Het
Mstn	A	T	1: 53,061,997	I78L	possibly damaging	Het
Nrap	T	C	19: 56,329,084	D1377G	probably damaging	Het
Pramel5	T	G	4: 144,271,272	Y467S	probably damaging	Het
Prkg1	G	A	19: 30,569,343		probably benign	Het
Rbfox1	A	C	16: 7,306,443	S219R	possibly damaging	Het
Rfng	T	C	11: 120,783,952	N71D	probably damaging	Het
Rp1	T	C	1: 4,345,238	I1884V	probably damaging	Het
Rptn	T	A	3: 93,398,176	Y939N	possibly damaging	Het
Sart1	A	G	19: 5,383,951	V322A	probably benign	Het
Shank3	T	C	15: 89,549,416	S1455P	probably damaging	Het
Smc5	T	A	19: 23,231,601	R703W	possibly damaging	Het
Sptan1	G	A	2: 30,014,173		probably null	Het
Tecta	T	C	9: 42,395,003	D43G	probably damaging	Het
Tmem67	A	T	4: 12,054,750	M685K	probably benign	Het
Trac	A	G	14: 54,220,766	T82A	probably benign	Het
Trank1	A	G	9: 111,366,793	N1295S	probably damaging	Het
Ttc36	T	C	9: 44,801,590		probably null	Het
Utp18	A	T	11: 93,869,848	S384T	possibly damaging	Het
Vmn1r64	C	A	7: 5,883,942	A201S	probably benign	Het
Vmn2r26	A	T	6: 124,061,607	I714F	probably benign	Het
Vps54	T	A	11: 21,312,268	V626D	probably damaging	Het
Wapl	T	C	14: 34,745,622		probably benign	Het
Yars2	C	T	16: 16,306,542	R338*	probably null	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
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
IGL01135:1110038F14Rik	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