Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02616:Gm8257'

300648

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Gm8257

Ensembl Gene

ENSMUSG00000079265

Gene Name

predicted pseudogene 8257

Synonyms

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.091) question?

Stock #

IGL02616

Quality Score

Status

Chromosome

Chromosomal Location

44886989-44894814 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 44892683 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Cysteine at position 106 (S106C)

Ref Sequence

ENSEMBL: ENSMUSP00000107491 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000111860] [ENSMUST00000169583] [ENSMUST00000179215]

AlphaFold

E9Q8R3

Predicted Effect

probably damaging
Transcript: ENSMUST00000111860
AA Change: S106C

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000107491
Gene: ENSMUSG00000079265
AA Change: S106C

Domain	Start	End	E-Value	Type
Pfam:Takusan	10	93	6.4e-35	PFAM
coiled coil region	108	141	N/A	INTRINSIC
transmembrane domain	201	223	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000169583
AA Change: S142C

PolyPhen 2 Score 0.410 (Sensitivity: 0.89; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000128723
Gene: ENSMUSG00000079265
AA Change: S142C

Domain	Start	End	E-Value	Type
Pfam:Takusan	48	128	3.5e-27	PFAM
coiled coil region	144	177	N/A	INTRINSIC
transmembrane domain	237	259	N/A	INTRINSIC

Predicted Effect

probably damaging
Transcript: ENSMUST00000179215
AA Change: S107C

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000136936
Gene: ENSMUSG00000079265
AA Change: S107C

Domain	Start	End	E-Value	Type
Pfam:Takusan	11	94	8.9e-36	PFAM
coiled coil region	109	142	N/A	INTRINSIC

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 48 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700003E16Rik	A	G	6: 83,138,644 (GRCm39)	R190G	probably benign	Het
4931406B18Rik	T	C	7: 43,150,437 (GRCm39)		probably null	Het
Adcy4	T	C	14: 56,020,971 (GRCm39)		probably null	Het
Ahnak	C	A	19: 8,982,991 (GRCm39)	P1425Q	probably benign	Het
Arih1	A	G	9: 59,319,759 (GRCm39)	V285A	probably benign	Het
Atp13a1	T	C	8: 70,257,963 (GRCm39)	V906A	probably benign	Het
Atp2a2	A	T	5: 122,599,747 (GRCm39)	I548N	probably benign	Het
C2cd5	A	T	6: 142,980,837 (GRCm39)	S643T	probably benign	Het
Calcoco1	T	C	15: 102,624,285 (GRCm39)	D210G	probably damaging	Het
Cep128	A	G	12: 91,263,032 (GRCm39)	I289T	probably benign	Het
Ces1c	C	T	8: 93,833,243 (GRCm39)	M407I	probably benign	Het
Cntln	T	G	4: 85,033,689 (GRCm39)		probably null	Het
Cypt12	T	A	3: 18,002,892 (GRCm39)	H88Q	possibly damaging	Het
Ddc	T	A	11: 11,830,645 (GRCm39)		probably benign	Het
Dnajb12	T	C	10: 59,728,685 (GRCm39)		probably null	Het
Gata2	A	G	6: 88,182,462 (GRCm39)	T477A	possibly damaging	Het
Gckr	A	G	5: 31,484,419 (GRCm39)	D619G	probably benign	Het
Gm5699	A	T	1: 31,037,432 (GRCm39)		noncoding transcript	Het
Gpr15	A	C	16: 58,538,567 (GRCm39)	L174R	probably damaging	Het
Hnrnph3	T	A	10: 62,855,264 (GRCm39)	H7L	possibly damaging	Het
Ide	A	T	19: 37,275,455 (GRCm39)	I518N	unknown	Het
Igdcc4	G	A	9: 65,040,360 (GRCm39)	G957D	probably damaging	Het
Igsf10	G	A	3: 59,226,027 (GRCm39)	P2549S	probably benign	Het
Kcnj9	A	G	1: 172,153,531 (GRCm39)	S198P	probably damaging	Het
Lclat1	T	C	17: 73,476,528 (GRCm39)	I45T	probably benign	Het
Met	T	C	6: 17,553,346 (GRCm39)	L1044S	probably damaging	Het
Msh4	T	C	3: 153,563,160 (GRCm39)	T739A	probably benign	Het
Ncam1	T	C	9: 49,419,988 (GRCm39)	E776G	probably benign	Het
Ndufv3	G	A	17: 31,746,643 (GRCm39)	V178M	probably damaging	Het
Nlgn1	T	C	3: 25,488,409 (GRCm39)	Y613C	probably damaging	Het
Nmbr	T	C	10: 14,636,431 (GRCm39)		probably benign	Het
Orc1	T	A	4: 108,452,676 (GRCm39)	W184R	probably benign	Het
Pde6b	T	C	5: 108,579,407 (GRCm39)	S850P	probably benign	Het
Pip5k1c	C	A	10: 81,153,155 (GRCm39)		probably null	Het
Pnpt1	T	C	11: 29,085,505 (GRCm39)		probably benign	Het
Pomt2	T	A	12: 87,171,636 (GRCm39)	H378L	probably damaging	Het
Sh3gl3	C	T	7: 81,934,226 (GRCm39)		probably benign	Het
Thsd7a	A	T	6: 12,408,984 (GRCm39)	N679K	probably damaging	Het
Tns2	T	C	15: 102,019,850 (GRCm39)	M572T	probably benign	Het
Twf2	C	T	9: 106,089,955 (GRCm39)	Q103*	probably null	Het
Uncx	T	C	5: 139,532,523 (GRCm39)	I196T	possibly damaging	Het
Urgcp	A	G	11: 5,667,400 (GRCm39)	S313P	probably damaging	Het
Vmn1r222	A	T	13: 23,416,311 (GRCm39)	C301S	possibly damaging	Het
Vmn2r111	T	A	17: 22,790,031 (GRCm39)	Q325L	possibly damaging	Het
Vps4a	C	T	8: 107,768,909 (GRCm39)	R236W	probably damaging	Het
Wdr19	T	A	5: 65,380,924 (GRCm39)	H344Q	probably damaging	Het
Wiz	A	T	17: 32,578,443 (GRCm39)	D356E	probably damaging	Het
Zc3h10	T	C	10: 128,380,751 (GRCm39)	E202G	probably benign	Het

Other mutations in Gm8257

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01287:Gm8257	APN	14	44,892,800 (GRCm39)	missense	probably damaging	1.00
R4602:Gm8257	UTSW	14	44,893,774 (GRCm39)	missense	probably damaging	1.00
R5678:Gm8257	UTSW	14	44,894,706 (GRCm39)	missense	probably damaging	1.00
R7264:Gm8257	UTSW	14	44,893,817 (GRCm39)	missense	probably damaging	1.00
R7374:Gm8257	UTSW	14	44,887,740 (GRCm39)	missense	probably benign	0.00
R7868:Gm8257	UTSW	14	44,894,754 (GRCm39)	missense	probably damaging	1.00
R8182:Gm8257	UTSW	14	44,887,623 (GRCm39)	missense	probably benign	0.38
R8944:Gm8257	UTSW	14	44,893,849 (GRCm39)	missense	probably damaging	1.00
R9036:Gm8257	UTSW	14	44,893,877 (GRCm39)	missense	probably benign	0.07

Posted On

2015-04-16