Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02983:Gm17078'

406615

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Gm17078

Ensembl Gene

ENSMUSG00000094715

Gene Name

predicted gene 17078

Synonyms

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.133) question?

Stock #

IGL02983

Quality Score

Status

Chromosome

Chromosomal Location

51844264-51848767 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 51848647 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Lysine to Arginine at position 30 (K30R)

Ref Sequence

ENSEMBL: ENSMUSP00000137655 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000096170] [ENSMUST00000167617]

AlphaFold

M0QW51

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: ENSMUST00000167617
AA Change: K30R

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)

SMART Domains

Protein: ENSMUSP00000137655
Gene: ENSMUSG00000094715
AA Change: K30R

Domain	Start	End	E-Value	Type
Pfam:Takusan	53	136	4.5e-27	PFAM

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 39 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca13	A	G	11: 9,240,663 (GRCm39)	N842S	probably benign	Het
Acvr1b	A	G	15: 101,100,959 (GRCm39)	R374G	probably damaging	Het
Brip1	T	C	11: 86,029,950 (GRCm39)	I565V	probably benign	Het
Camta2	C	T	11: 70,562,848 (GRCm39)	R959Q	probably damaging	Het
Cbln2	A	G	18: 86,731,504 (GRCm39)	E104G	probably benign	Het
Cdc42ep4	T	C	11: 113,619,995 (GRCm39)	K132R	probably benign	Het
Clcnka	T	A	4: 141,117,442 (GRCm39)	I452F	probably damaging	Het
Clec4a3	T	A	6: 122,944,526 (GRCm39)		probably null	Het
Crat	A	C	2: 30,294,538 (GRCm39)		probably null	Het
Cspp1	A	G	1: 10,197,750 (GRCm39)	K227R	probably benign	Het
Ddx1	A	T	12: 13,273,863 (GRCm39)	I588N	probably damaging	Het
Dip2b	G	T	15: 100,029,903 (GRCm39)	R98L	possibly damaging	Het
Dock5	G	A	14: 68,002,119 (GRCm39)	P1617L	probably damaging	Het
Fa2h	C	T	8: 112,073,154 (GRCm39)		probably null	Het
Fezf1	T	A	6: 23,247,871 (GRCm39)	N68I	probably damaging	Het
Gabrb2	A	T	11: 42,312,227 (GRCm39)	L17F	probably benign	Het
Gramd4	G	A	15: 86,011,219 (GRCm39)	V249M	probably damaging	Het
Kcnd2	A	C	6: 21,216,554 (GRCm39)	D86A	probably damaging	Het
Lrp1	T	C	10: 127,386,068 (GRCm39)	E3486G	probably damaging	Het
Ltb	A	G	17: 35,413,646 (GRCm39)	D50G	probably benign	Het
Med18	A	T	4: 132,186,997 (GRCm39)	Y167*	probably null	Het
Nat14	G	A	7: 4,927,127 (GRCm39)	A100T	probably damaging	Het
Nscme3l	A	G	19: 5,553,209 (GRCm39)	F191L	possibly damaging	Het
Nxph2	T	C	2: 23,290,374 (GRCm39)	V242A	probably damaging	Het
Or1j10	T	A	2: 36,267,649 (GRCm39)	I287N	probably damaging	Het
Or1x2	T	C	11: 50,918,207 (GRCm39)	V126A	probably damaging	Het
Or2a55-ps1	T	C	6: 43,071,582 (GRCm39)		noncoding transcript	Het
Or6c219	T	A	10: 129,781,058 (GRCm39)	N291I	probably damaging	Het
Pramel15	T	C	4: 144,099,697 (GRCm39)	E356G	probably benign	Het
Rad21l	A	G	2: 151,497,040 (GRCm39)	L358S	probably damaging	Het
Rasgef1c	A	G	11: 49,847,876 (GRCm39)	T4A	possibly damaging	Het
Spata31d1a	A	G	13: 59,851,508 (GRCm39)	S207P	possibly damaging	Het
Stxbp2	A	T	8: 3,691,971 (GRCm39)	I538F	probably benign	Het
Szt2	T	C	4: 118,222,976 (GRCm39)		probably benign	Het
Taf6	T	C	5: 138,177,142 (GRCm39)	T642A	probably benign	Het
Tmem30a	A	T	9: 79,678,725 (GRCm39)	M277K	possibly damaging	Het
Vmn1r86	T	C	7: 12,836,741 (GRCm39)	D45G	probably damaging	Het
Xkr5	T	C	8: 18,983,848 (GRCm39)	I565V	probably benign	Het
Zfp526	C	T	7: 24,923,840 (GRCm39)	A33V	probably benign	Het

Other mutations in Gm17078

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02525:Gm17078	APN	14	51,848,680 (GRCm39)	missense	possibly damaging	0.94
R5028:Gm17078	UTSW	14	51,848,699 (GRCm39)	missense	probably null	0.99
R6438:Gm17078	UTSW	14	51,848,695 (GRCm39)	missense	probably benign	0.41
R8688:Gm17078	UTSW	14	51,848,687 (GRCm39)	nonsense	probably null
R8691:Gm17078	UTSW	14	51,848,693 (GRCm39)	missense	probably damaging	0.96
R8940:Gm17078	UTSW	14	51,846,342 (GRCm39)	missense	probably damaging	0.97

Posted On

2016-08-02