Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL00402:Gm14226'

306592

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Gm14226

Ensembl Gene

ENSMUSG00000084897

Gene Name

predicted gene 14226

Synonyms

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.192) question?

Stock #

IGL00402

Quality Score

Status

Chromosome

Chromosomal Location

154860186-154869024 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to T at 154867078 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Isoleucine at position 345 (S345I)

Ref Sequence

ENSEMBL: ENSMUSP00000122157 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000029123] [ENSMUST00000109697] [ENSMUST00000130870] [ENSMUST00000137333] [ENSMUST00000148402]

AlphaFold

Q3TZL0

Predicted Effect

probably benign
Transcript: ENSMUST00000029123

SMART Domains

Protein: ENSMUSP00000029123
Gene: ENSMUSG00000027596

Domain	Start	End	E-Value	Type
Agouti	6	127	3.98e-69	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000109697

SMART Domains

Protein: ENSMUSP00000105319
Gene: ENSMUSG00000027596

Domain	Start	End	E-Value	Type
Agouti	6	127	3.98e-69	SMART

Predicted Effect

probably damaging
Transcript: ENSMUST00000130870
AA Change: S345I

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000122157
Gene: ENSMUSG00000084897
AA Change: S345I

Domain	Start	End	E-Value	Type
Pfam:TLV_coat	14	627	1.4e-139	PFAM
low complexity region	649	662	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000132342

Predicted Effect

probably benign
Transcript: ENSMUST00000137333

SMART Domains

Protein: ENSMUSP00000122261
Gene: ENSMUSG00000027596

Domain	Start	End	E-Value	Type
Agouti	6	70	2.53e-4	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000148402

SMART Domains

Protein: ENSMUSP00000121072
Gene: ENSMUSG00000027596

Domain	Start	End	E-Value	Type
Agouti	6	75	2.32e-6	SMART

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 47 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca17	A	T	17: 24,514,165 (GRCm39)	L846H	probably benign	Het
Abca6	A	T	11: 110,075,535 (GRCm39)	L1319I	probably damaging	Het
Apob	C	T	12: 8,043,065 (GRCm39)		probably benign	Het
Atg16l2	A	C	7: 100,945,360 (GRCm39)	S268R	probably benign	Het
Atp1b3	T	C	9: 96,215,756 (GRCm39)		probably benign	Het
Atxn7	T	G	14: 14,096,324 (GRCm38)		probably benign	Het
Birc6	G	A	17: 74,880,558 (GRCm39)		probably benign	Het
C4b	G	A	17: 34,953,402 (GRCm39)	T1027I	probably damaging	Het
Caskin1	T	C	17: 24,722,863 (GRCm39)	I577T	probably damaging	Het
Cbx6	A	G	15: 79,713,130 (GRCm39)	V99A	possibly damaging	Het
Ccr9	A	C	9: 123,609,109 (GRCm39)	I252L	probably benign	Het
Cdh8	A	T	8: 100,006,322 (GRCm39)	D88E	probably damaging	Het
Cep135	T	C	5: 76,749,306 (GRCm39)	S258P	probably damaging	Het
Cep57l1	T	G	10: 41,597,547 (GRCm39)		probably benign	Het
Cip2a	T	A	16: 48,822,178 (GRCm39)	H234Q	probably damaging	Het
Col12a1	T	C	9: 79,588,819 (GRCm39)	T1099A	possibly damaging	Het
Col4a4	C	T	1: 82,469,362 (GRCm39)	G802D	unknown	Het
Ddx41	T	C	13: 55,679,212 (GRCm39)	T545A	probably damaging	Het
Disc1	A	T	8: 125,815,014 (GRCm39)	T293S	probably benign	Het
Fam13b	A	T	18: 34,587,771 (GRCm39)	V509D	probably damaging	Het
Ffar4	C	T	19: 38,095,837 (GRCm39)	P192L	probably benign	Het
Fn1	C	A	1: 71,680,322 (GRCm39)	C461F	probably damaging	Het
Gopc	T	C	10: 52,225,326 (GRCm39)	K308E	probably damaging	Het
Hapln2	A	T	3: 87,931,641 (GRCm39)	N28K	possibly damaging	Het
Hectd1	T	C	12: 51,815,891 (GRCm39)	S1394G	possibly damaging	Het
Hectd1	T	C	12: 51,806,215 (GRCm39)	H1807R	probably benign	Het
Ifnl2	A	T	7: 28,208,290 (GRCm39)	V193D	possibly damaging	Het
Il1rap	T	A	16: 26,541,151 (GRCm39)	M464K	possibly damaging	Het
Krtap16-1	A	T	11: 99,876,557 (GRCm39)	C282*	probably null	Het
Ltv1	C	T	10: 13,066,327 (GRCm39)	V100I	probably benign	Het
Mcf2l	T	C	8: 13,050,857 (GRCm39)	S308P	probably damaging	Het
Narf	G	A	11: 121,129,344 (GRCm39)		probably null	Het
Nmd3	T	A	3: 69,652,573 (GRCm39)	N386K	possibly damaging	Het
Noxo1	C	T	17: 24,917,910 (GRCm39)		probably benign	Het
Or1e30	T	A	11: 73,678,406 (GRCm39)	I214N	probably damaging	Het
Ppic	C	T	18: 53,542,366 (GRCm39)	G114D	probably damaging	Het
Ppp4r1	T	C	17: 66,123,014 (GRCm39)	S339P	probably benign	Het
Ptprg	T	A	14: 12,215,992 (GRCm38)	L1147Q	probably damaging	Het
Qser1	A	G	2: 104,617,326 (GRCm39)	V1072A	probably benign	Het
Rad54l2	T	A	9: 106,577,760 (GRCm39)	M1054L	probably benign	Het
Scara5	A	C	14: 65,975,864 (GRCm39)		probably benign	Het
Smtnl2	C	T	11: 72,294,085 (GRCm39)		probably benign	Het
Spink8	A	T	9: 109,648,287 (GRCm39)	I25F	probably benign	Het
Vit	G	A	17: 78,909,336 (GRCm39)		probably null	Het
Vps13b	A	G	15: 35,926,372 (GRCm39)	D3891G	possibly damaging	Het
Zfp207	T	A	11: 80,283,911 (GRCm39)	M277K	probably benign	Het
Zp2	T	C	7: 119,732,623 (GRCm39)	D641G	probably benign	Het

Other mutations in Gm14226

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02852:Gm14226	APN	2	154,866,841 (GRCm39)	missense	possibly damaging	0.91
R0279:Gm14226	UTSW	2	154,867,372 (GRCm39)	missense	possibly damaging	0.82
R1393:Gm14226	UTSW	2	154,866,111 (GRCm39)	missense	probably damaging	1.00
R1740:Gm14226	UTSW	2	154,866,851 (GRCm39)	intron	probably benign
R1758:Gm14226	UTSW	2	154,867,378 (GRCm39)	missense	probably damaging	1.00
R1816:Gm14226	UTSW	2	154,867,549 (GRCm39)	missense	probably damaging	1.00
R1837:Gm14226	UTSW	2	154,866,930 (GRCm39)	missense	probably benign	0.31
R1951:Gm14226	UTSW	2	154,866,255 (GRCm39)	missense	possibly damaging	0.92
R4485:Gm14226	UTSW	2	154,867,191 (GRCm39)	missense	probably benign	0.18
R4947:Gm14226	UTSW	2	154,866,879 (GRCm39)	missense	probably benign	0.21
R5061:Gm14226	UTSW	2	154,867,106 (GRCm39)	missense	probably benign	0.13
R5673:Gm14226	UTSW	2	154,866,842 (GRCm39)	missense	possibly damaging	0.81
R5863:Gm14226	UTSW	2	154,866,211 (GRCm39)	missense	probably benign	0.19
R6525:Gm14226	UTSW	2	154,867,003 (GRCm39)	missense	possibly damaging	0.67
R6996:Gm14226	UTSW	2	154,866,357 (GRCm39)	missense	probably benign	0.00
R7546:Gm14226	UTSW	2	154,867,131 (GRCm39)	missense	probably damaging	0.96
R7593:Gm14226	UTSW	2	154,866,114 (GRCm39)	missense	unknown
R7775:Gm14226	UTSW	2	154,866,630 (GRCm39)	missense	possibly damaging	0.71
R7778:Gm14226	UTSW	2	154,866,630 (GRCm39)	missense	possibly damaging	0.71
R8254:Gm14226	UTSW	2	154,866,646 (GRCm39)	missense	possibly damaging	0.52
R8558:Gm14226	UTSW	2	154,866,909 (GRCm39)	missense	probably benign	0.03
R8712:Gm14226	UTSW	2	154,866,094 (GRCm39)	missense	unknown
R8815:Gm14226	UTSW	2	154,866,538 (GRCm39)	nonsense	probably null
R9149:Gm14226	UTSW	2	154,866,843 (GRCm39)	missense	probably damaging	0.99

Posted On

2015-04-16