Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL03252:Gm10375'

414558

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Gm10375

Ensembl Gene

ENSMUSG00000095528

Gene Name

predicted gene 10375

Synonyms

Accession Numbers

Essential gene?

Not available question?

Stock #

IGL03252

Quality Score

Status

Chromosome

Chromosomal Location

43840084-43845470 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 43842289 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Cysteine to Tyrosine at position 147 (C147Y)

Ref Sequence

ENSEMBL: ENSMUSP00000098257 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000100692] [ENSMUST00000163970]

AlphaFold

Q5EBJ2

Predicted Effect

probably damaging
Transcript: ENSMUST00000100692
AA Change: C147Y

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

SMART Domains

Protein: ENSMUSP00000098257
Gene: ENSMUSG00000095528
AA Change: C147Y

Domain	Start	End	E-Value	Type
Pfam:Takusan	8	89	5.1e-25	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000163970

SMART Domains

Protein: ENSMUSP00000127181
Gene: ENSMUSG00000095528

Domain	Start	End	E-Value	Type
Pfam:Takusan	8	89	6.2e-25	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000228350

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 29 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
B4galnt2	A	G	11: 95,764,757 (GRCm39)	S237P	probably damaging	Het
Btla	A	G	16: 45,059,509 (GRCm39)	H71R	possibly damaging	Het
Calml3	T	A	13: 3,853,759 (GRCm39)	K149*	probably null	Het
Cyp2c29	T	C	19: 39,275,619 (GRCm39)	W20R	probably damaging	Het
Dnah8	G	A	17: 30,892,894 (GRCm39)		probably null	Het
Elf3	T	C	1: 135,182,691 (GRCm39)	T345A	probably damaging	Het
Erc2	T	C	14: 28,197,606 (GRCm39)		probably benign	Het
Gsdma2	A	G	11: 98,539,916 (GRCm39)	R13G	probably damaging	Het
H3c1	G	A	13: 23,945,943 (GRCm39)		probably null	Het
Ighg3	G	T	12: 113,324,184 (GRCm39)	P101H	unknown	Het
L3mbtl3	A	G	10: 26,207,710 (GRCm39)		probably benign	Het
Micall2	T	C	5: 139,702,481 (GRCm39)	N254S	probably benign	Het
Myh4	A	T	11: 67,143,042 (GRCm39)	D990V	probably damaging	Het
Ncapd3	T	A	9: 26,962,745 (GRCm39)	F394I	probably damaging	Het
Nek1	C	T	8: 61,525,364 (GRCm39)	Q601*	probably null	Het
Or4k37	T	A	2: 111,159,125 (GRCm39)	Y120*	probably null	Het
Or52n2c	C	T	7: 104,574,594 (GRCm39)	V126I	probably benign	Het
Plcb1	C	T	2: 135,212,348 (GRCm39)	P980S	probably benign	Het
Puf60	T	C	15: 75,943,699 (GRCm39)	D224G	probably damaging	Het
Pus7l	T	A	15: 94,423,691 (GRCm39)	H586L	probably benign	Het
Rims2	T	C	15: 39,315,748 (GRCm39)	S585P	probably benign	Het
Rxfp1	T	A	3: 79,574,990 (GRCm39)	D207V	probably benign	Het
Scgb2b7	A	T	7: 31,404,506 (GRCm39)	C65S	probably damaging	Het
Sptlc2	A	G	12: 87,402,431 (GRCm39)	I165T	probably benign	Het
Sult2a3	A	G	7: 13,801,559 (GRCm39)	V260A	probably damaging	Het
Tas2r125	A	G	6: 132,887,553 (GRCm39)		probably null	Het
Tbx18	T	A	9: 87,587,633 (GRCm39)	I495F	probably damaging	Het
Top2b	A	T	14: 16,393,163 (GRCm38)	N274I	possibly damaging	Het
Vmn2r53	T	G	7: 12,340,318 (GRCm39)	T52P	probably damaging	Het

Other mutations in Gm10375

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
R4651:Gm10375	UTSW	14	43,844,326 (GRCm39)	critical splice donor site	probably null
R4652:Gm10375	UTSW	14	43,844,326 (GRCm39)	critical splice donor site	probably null
R7077:Gm10375	UTSW	14	43,840,427 (GRCm39)	missense	probably benign
R7313:Gm10375	UTSW	14	43,842,314 (GRCm39)	missense	possibly damaging	0.80
R7707:Gm10375	UTSW	14	43,842,332 (GRCm39)	nonsense	probably null

Posted On

2016-08-02