Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01347:Gm17175'

75076

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Gm17175

Ensembl Gene

ENSMUSG00000091142

Gene Name

predicted gene 17175

Synonyms

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.063) question?

Stock #

IGL01347

Quality Score

Status

Chromosome

Chromosomal Location

51806349-51811520 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 51808307 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Cysteine to Serine at position 162 (C162S)

Ref Sequence

ENSEMBL: ENSMUSP00000127078 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000096170] [ENSMUST00000162998] [ENSMUST00000172117]

AlphaFold

E9Q528

Predicted Effect

probably benign
Transcript: ENSMUST00000096170

SMART Domains

Protein: ENSMUSP00000093884
Gene: ENSMUSG00000079244

Domain	Start	End	E-Value	Type
Pfam:Takusan	56	144	1.3e-21	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000162998

SMART Domains

Protein: ENSMUSP00000125409
Gene: ENSMUSG00000068399

Domain	Start	End	E-Value	Type
Pfam:Takusan	35	115	2.2e-25	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000172117
AA Change: C162S

PolyPhen 2 Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000127078
Gene: ENSMUSG00000091142
AA Change: C162S

Domain	Start	End	E-Value	Type
Pfam:Takusan	23	103	3.3e-26	PFAM

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 55 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aoc1l2	A	T	6: 48,909,477 (GRCm39)	Y574F	probably benign	Het
Apc	C	T	18: 34,450,723 (GRCm39)	P2506S	probably damaging	Het
Bdp1	T	A	13: 100,206,711 (GRCm39)	K610N	possibly damaging	Het
Bri3bp	T	G	5: 125,531,581 (GRCm39)	C176G	probably damaging	Het
Carnmt1	A	G	19: 18,668,818 (GRCm39)	I248V	probably benign	Het
Ccdc88b	A	G	19: 6,822,454 (GRCm39)	L1475P	probably damaging	Het
Cfap100	C	T	6: 90,383,103 (GRCm39)	V511M	possibly damaging	Het
Chchd3	T	C	6: 32,780,838 (GRCm39)	N78S	probably benign	Het
Cnnm4	G	A	1: 36,537,115 (GRCm39)	E480K	possibly damaging	Het
Cyp2d34	T	A	15: 82,500,978 (GRCm39)	I385F	possibly damaging	Het
D930048N14Rik	T	A	11: 51,545,615 (GRCm39)		probably benign	Het
Dgkg	A	T	16: 22,419,340 (GRCm39)	D53E	probably benign	Het
Dlx3	T	A	11: 95,011,359 (GRCm39)	L71H	probably damaging	Het
Egln2	A	C	7: 26,859,717 (GRCm39)	V332G	probably null	Het
Entpd2	A	G	2: 25,288,746 (GRCm39)	Q250R	probably benign	Het
Epyc	A	G	10: 97,510,593 (GRCm39)	D132G	probably damaging	Het
Fxr2	A	G	11: 69,543,114 (GRCm39)	D637G	probably benign	Het
Gapvd1	A	G	2: 34,596,708 (GRCm39)		probably null	Het
Gbp11	G	A	5: 105,479,194 (GRCm39)		probably benign	Het
Gm5499	C	T	17: 87,386,339 (GRCm39)		noncoding transcript	Het
Gps1	T	C	11: 120,679,086 (GRCm39)	V378A	probably benign	Het
Grik1	C	T	16: 87,754,481 (GRCm39)	R368Q	probably benign	Het
Gsap	A	G	5: 21,431,318 (GRCm39)	E214G	probably benign	Het
H2bc13	A	G	13: 21,900,064 (GRCm39)	Y84H	probably damaging	Het
Jdp2	T	C	12: 85,655,020 (GRCm39)	S28P	probably benign	Het
Kif26b	T	C	1: 178,698,240 (GRCm39)	F577S	probably damaging	Het
Kl	G	A	5: 150,904,130 (GRCm39)	G294D	probably damaging	Het
Lgsn	T	A	1: 31,243,041 (GRCm39)	D374E	probably damaging	Het
Lman1	T	C	18: 66,124,681 (GRCm39)	I353V	probably damaging	Het
Lmna	T	C	3: 88,392,270 (GRCm39)	H374R	probably benign	Het
Lrrc57	A	G	2: 120,439,286 (GRCm39)	S31P	probably benign	Het
Lum	T	A	10: 97,404,547 (GRCm39)	N147K	probably damaging	Het
Or6n2	T	C	1: 173,897,632 (GRCm39)	I256T	probably benign	Het
Or7a41	A	G	10: 78,871,445 (GRCm39)	T272A	probably benign	Het
P4ha3	C	A	7: 99,955,140 (GRCm39)	L332I	probably damaging	Het
Pelp1	A	G	11: 70,286,505 (GRCm39)	I541T	probably damaging	Het
Pja2	A	C	17: 64,620,023 (GRCm39)	S2A	probably benign	Het
Rhbdl3	T	C	11: 80,244,268 (GRCm39)	L325P	probably damaging	Het
Robo2	T	C	16: 74,149,744 (GRCm39)	D28G	probably damaging	Het
Rpa1	A	G	11: 75,198,111 (GRCm39)	Y470H	probably damaging	Het
Rtn3	T	C	19: 7,434,645 (GRCm39)	N430S	probably benign	Het
Scg2	T	A	1: 79,414,538 (GRCm39)	I62L	probably benign	Het
Scn5a	T	A	9: 119,391,507 (GRCm39)	K62*	probably null	Het
Sec23ip	T	C	7: 128,364,129 (GRCm39)	V469A	probably benign	Het
Shank1	A	G	7: 43,991,544 (GRCm39)	T663A	unknown	Het
Slco1a7	A	T	6: 141,700,192 (GRCm39)	Y113*	probably null	Het
Stab2	G	T	10: 86,737,567 (GRCm39)		probably null	Het
Tmcc3	T	C	10: 94,418,147 (GRCm39)	L305P	probably damaging	Het
Tmem145	A	G	7: 25,014,260 (GRCm39)	N458S	probably damaging	Het
Tpr	G	A	1: 150,302,738 (GRCm39)	R1412Q	probably damaging	Het
Wdr1	A	T	5: 38,703,058 (GRCm39)	F173I	possibly damaging	Het
Wdr17	C	T	8: 55,104,380 (GRCm39)	V898I	probably benign	Het
Wdr64	A	T	1: 175,547,899 (GRCm39)	L145F	probably benign	Het
Wnt10b	A	G	15: 98,674,826 (GRCm39)		probably benign	Het
Zfyve26	A	T	12: 79,298,957 (GRCm39)		probably null	Het

Other mutations in Gm17175

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00966:Gm17175	APN	14	51,810,526 (GRCm39)	missense	possibly damaging	0.77
IGL01553:Gm17175	APN	14	51,808,279 (GRCm39)	missense	probably benign	0.00
IGL02436:Gm17175	APN	14	51,807,108 (GRCm39)	utr 3 prime	probably benign
IGL02485:Gm17175	APN	14	51,807,068 (GRCm39)	utr 3 prime	probably benign
IGL03171:Gm17175	APN	14	51,809,065 (GRCm39)	missense	probably damaging	1.00
R4120:Gm17175	UTSW	14	51,810,534 (GRCm39)	missense	probably damaging	0.97
R4614:Gm17175	UTSW	14	51,809,042 (GRCm39)	missense	probably benign	0.28
R6496:Gm17175	UTSW	14	51,810,534 (GRCm39)	missense	probably benign	0.05
R6817:Gm17175	UTSW	14	51,810,478 (GRCm39)	missense	possibly damaging	0.91
R7000:Gm17175	UTSW	14	51,811,418 (GRCm39)	start codon destroyed	probably null
R7814:Gm17175	UTSW	14	51,811,492 (GRCm39)	start gained	probably benign
R8074:Gm17175	UTSW	14	51,809,080 (GRCm39)	missense	probably damaging	0.97
R8423:Gm17175	UTSW	14	51,809,070 (GRCm39)	missense	possibly damaging	0.80
R9608:Gm17175	UTSW	14	51,809,099 (GRCm39)	missense	probably damaging	0.99

Posted On

2013-10-07