Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02472:1110038F14Rik'

294788

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 #

IGL02472

Quality Score

Status

Chromosome

Chromosomal Location

76948506-76950979 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 76950378 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Serine at position 158 (N158S)

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: N220S

PolyPhen 2 Score 0.976 (Sensitivity: 0.76; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000071698
Gene: ENSMUSG00000063236
AA Change: N220S

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

possibly damaging
Transcript: ENSMUST00000229229
AA Change: N157S

PolyPhen 2 Score 0.795 (Sensitivity: 0.85; Specificity: 0.93)

Predicted Effect

probably damaging
Transcript: ENSMUST00000230274
AA Change: N158S

PolyPhen 2 Score 0.976 (Sensitivity: 0.76; Specificity: 0.96)

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000231058

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 45 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Ankrd17	A	C	5: 90,264,151	L1285V	probably damaging	Het
Atp8b2	G	A	3: 89,954,239	T267I	probably damaging	Het
Becn1	C	T	11: 101,291,398	G115D	probably benign	Het
Cd3eap	T	C	7: 19,359,105	D50G	probably damaging	Het
Cdc45	C	T	16: 18,798,729	M200I	probably benign	Het
Chd6	A	C	2: 160,984,452		probably benign	Het
Col22a1	A	G	15: 71,827,753		probably benign	Het
Csgalnact1	C	A	8: 68,401,492	G219V	probably damaging	Het
Dnm2	A	G	9: 21,485,708	I494V	possibly damaging	Het
Dock2	T	A	11: 34,249,801	E1416D	probably benign	Het
Eif2ak1	A	G	5: 143,884,883	H339R	probably benign	Het
Espnl	C	T	1: 91,340,534	P294L	probably benign	Het
Ftmt	T	A	18: 52,331,840	I76N	possibly damaging	Het
Gorasp2	T	G	2: 70,676,459		probably benign	Het
Hadhb	T	A	5: 30,184,063	M468K	possibly damaging	Het
Hfm1	A	G	5: 106,873,928		probably benign	Het
Inpp5j	T	C	11: 3,495,338		probably benign	Het
Ipo7	T	A	7: 110,040,853	F288I	probably damaging	Het
Kcnv1	T	A	15: 45,109,123	K455*	probably null	Het
Kdm5a	A	G	6: 120,406,730		probably benign	Het
Kmt2d	G	A	15: 98,850,077	S3122F	probably benign	Het
Kndc1	A	G	7: 139,910,901	I440V	probably benign	Het
Mib2	T	A	4: 155,656,746	I545F	probably damaging	Het
Nav2	C	T	7: 49,546,041	P1055L	probably damaging	Het
Olfr111	C	A	17: 37,530,749	F257L	probably damaging	Het
Olfr1257	T	A	2: 89,881,411	I195N	probably benign	Het
Plch1	A	T	3: 63,701,849	L65Q	probably damaging	Het
Ppp3ca	A	G	3: 136,921,862	I396V	possibly damaging	Het
Ryr1	A	T	7: 29,040,844	N3917K	probably damaging	Het
Scn7a	T	C	2: 66,752,314	T80A	probably damaging	Het
Sema3f	C	T	9: 107,687,736	E307K	probably damaging	Het
Serpinb9b	A	T	13: 33,039,970		probably benign	Het
Siglec15	T	A	18: 78,043,617	K342N	possibly damaging	Het
Slc2a12	T	C	10: 22,665,155	F303S	probably damaging	Het
Slc9c1	T	C	16: 45,580,142	V705A	probably benign	Het
Tenm4	T	C	7: 96,774,176		probably benign	Het
Tm6sf1	A	T	7: 81,875,824		probably benign	Het
Tmem245	T	C	4: 56,899,119	Y269C	probably damaging	Het
Txndc2	A	G	17: 65,637,976	I402T	possibly damaging	Het
Ube4b	A	G	4: 149,387,079		probably null	Het
Usp28	T	A	9: 49,037,769	Y863N	possibly damaging	Het
Vmn2r69	T	C	7: 85,409,752	I534V	probably benign	Het
Wdr89	A	T	12: 75,632,969	D170E	probably damaging	Het
Zfp280d	C	A	9: 72,301,711	N74K	probably damaging	Het
Zfp518a	G	A	19: 40,914,617	G997R	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
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
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