Mutagenetix > Incidental Mutations

Incidental Mutation 'IGL01133:1110038F14Rik'

278201

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

1110038F14Rik

Ensembl Gene

ENSMUSG00000063236

Gene Name

RIKEN cDNA 1110038F14 gene

Synonyms

Accession Numbers

Is this an essential gene?

Not available question?

Stock #

IGL01133

Quality Score

Status

Chromosome

Chromosomal Location

76948506-76950979 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 76950275 bp

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]

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: 36 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
0610010F05Rik	A	T	11: 23,595,434	D486E	probably damaging	Het
1700007G11Rik	T	C	5: 98,498,381		probably null	Het
Adam4	T	C	12: 81,421,446	T134A	possibly damaging	Het
Aen	G	A	7: 78,907,302	M299I	probably damaging	Het
BC005561	A	G	5: 104,517,662	T17A	probably benign	Het
Cartpt	T	G	13: 99,900,040	I67L	probably benign	Het
Cc2d1a	G	T	8: 84,143,404	H161N	probably benign	Het
Ccer1	T	C	10: 97,694,539	F355L	probably benign	Het
Cfap206	C	T	4: 34,721,562	S162N	probably damaging	Het
Cfap36	A	C	11: 29,234,414	V114G	probably damaging	Het
Col4a3bp	A	G	13: 96,614,802	E320G	probably damaging	Het
Cyp2b9	G	A	7: 26,210,235	G476D	probably damaging	Het
Eif3l	T	C	15: 79,076,920	Y58H	possibly damaging	Het
Gapvd1	T	C	2: 34,725,398	Y411C	probably damaging	Het
Gm27029	G	T	11: 101,411,960	F236L	possibly damaging	Het
Golga1	T	C	2: 39,023,472	T501A	probably benign	Het
Heg1	C	T	16: 33,727,287	H815Y	probably benign	Het
Krt1	A	T	15: 101,848,193	D298E	probably damaging	Het
Mecr	T	A	4: 131,843,596	S32T	probably benign	Het
Med1	A	T	11: 98,157,986	Y661*	probably null	Het
Olfr419	T	C	1: 174,250,526	S134G	probably benign	Het
Pla2g12b	G	T	10: 59,416,417	A37S	probably benign	Het
Plekha7	G	T	7: 116,145,241		probably null	Het
Ralgapa1	T	C	12: 55,642,348	I1989V	probably damaging	Het
Ralgapa1	T	C	12: 55,642,359	H1938R	probably damaging	Het
Sec31b	A	G	19: 44,527,041	F309S	probably damaging	Het
Serpina3a	T	C	12: 104,121,499	I227T	probably benign	Het
Slc1a3	A	G	15: 8,645,687	I278T	probably damaging	Het
Slc1a3	T	C	15: 8,650,993	Y127C	probably damaging	Het
Spen	T	C	4: 141,489,901	K449R	unknown	Het
Tmem130	A	G	5: 144,752,445	S129P	probably damaging	Het
Trim68	A	T	7: 102,679,141		probably null	Het
Vdac3-ps1	T	C	13: 18,031,449		noncoding transcript	Het
Vmn2r75	A	G	7: 86,148,032		probably benign	Het
Zbtb9	G	T	17: 26,975,011		probably benign	Het
Zfp568	T	A	7: 29,987,808		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
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
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