Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL03403:Gm12800'

421480

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Gm12800

Ensembl Gene

ENSMUSG00000037028

Gene Name

predicted gene 12800

Synonyms

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.066) question?

Stock #

IGL03403

Quality Score

Status

Chromosome

Chromosomal Location

101909121-101911908 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 101909928 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Serine to Proline at position 125 (S125P)

Ref Sequence

ENSEMBL: ENSMUSP00000075380 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000075999]

AlphaFold

B1AUV4

Predicted Effect

probably benign
Transcript: ENSMUST00000075999
AA Change: S125P

PolyPhen 2 Score 0.404 (Sensitivity: 0.89; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000075380
Gene: ENSMUSG00000037028
AA Change: S125P

Domain	Start	End	E-Value	Type
SCOP:d1a4ya_	206	410	9e-11	SMART

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 38 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2410089E03Rik	A	C	15: 8,201,342	K1034N	probably damaging	Het
Adamts12	T	A	15: 11,241,488	I382N	probably damaging	Het
Adamts5	T	C	16: 85,863,014	T797A	probably damaging	Het
Ahr	A	T	12: 35,504,326	V598E	possibly damaging	Het
Akap10	A	G	11: 61,915,273	S210P	probably benign	Het
Asb5	G	T	8: 54,583,547		probably benign	Het
AU041133	T	C	10: 82,138,344	V31A	probably damaging	Het
Bcar3	T	C	3: 122,512,969	V197A	probably benign	Het
Bptf	A	G	11: 107,099,733	V510A	possibly damaging	Het
Ccar2	A	T	14: 70,140,068	D712E	probably damaging	Het
Cenpt	G	A	8: 105,849,665	Q85*	probably null	Het
Ciita	C	A	16: 10,503,872	H98N	probably damaging	Het
Csn1s1	T	A	5: 87,667,293	M16K	probably benign	Het
Fah	A	G	7: 84,593,209	I297T	probably damaging	Het
Fbxo25	A	G	8: 13,929,423	N214D	probably benign	Het
Frem3	A	C	8: 80,611,090	D4A	probably benign	Het
Gm3409	A	G	5: 146,539,524	K162E	probably benign	Het
Gxylt1	T	C	15: 93,261,775	D148G	possibly damaging	Het
Hoxd4	A	T	2: 74,728,337	E168V	possibly damaging	Het
Ifna6	A	G	4: 88,827,458	S15G	possibly damaging	Het
Iqck	T	A	7: 118,876,271	H97Q	probably benign	Het
Kif16b	T	A	2: 142,711,869	E1003V	probably damaging	Het
Lrp1b	G	A	2: 40,702,824	P3761L	probably benign	Het
Mc4r	C	T	18: 66,859,526	C172Y	possibly damaging	Het
Olfr373	A	G	8: 72,100,497	T246A	probably benign	Het
Oosp1	T	A	19: 11,687,380	N104I	probably damaging	Het
Pram1	A	T	17: 33,642,143	I513F	probably damaging	Het
Rasef	A	G	4: 73,734,534	S577P	probably damaging	Het
Rfx8	T	C	1: 39,690,173	D144G	possibly damaging	Het
Rreb1	A	C	13: 37,929,574	N303T	possibly damaging	Het
Rrn3	A	T	16: 13,799,945	K351*	probably null	Het
Sox30	A	T	11: 46,017,208	E734V	probably damaging	Het
Spns1	C	T	7: 126,371,536		probably null	Het
Tgfbr2	T	A	9: 116,110,302	E177D	probably benign	Het
Tnfaip8l3	A	G	9: 54,027,457	M78T	possibly damaging	Het
Vmn2r92	C	T	17: 18,166,852	T151I	probably damaging	Het
Wwc1	A	G	11: 35,915,284	Y41H	possibly damaging	Het
Zfp407	A	T	18: 84,560,797	N730K	probably damaging	Het

Other mutations in Gm12800

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02430:Gm12800	APN	4	101910280	missense	probably benign	0.02
IGL02683:Gm12800	APN	4	101910354	missense	probably benign	0.00
R0833:Gm12800	UTSW	4	101910097	missense	probably damaging	0.97
R1054:Gm12800	UTSW	4	101909164	missense	probably benign	0.00
R1953:Gm12800	UTSW	4	101910115	missense	probably benign
R2216:Gm12800	UTSW	4	101910060	missense	probably damaging	0.99
R3746:Gm12800	UTSW	4	101909876	missense	possibly damaging	0.63
R3747:Gm12800	UTSW	4	101909876	missense	possibly damaging	0.63
R3750:Gm12800	UTSW	4	101909876	missense	possibly damaging	0.63
R4931:Gm12800	UTSW	4	101909170	missense	possibly damaging	0.47
R5102:Gm12800	UTSW	4	101909239	missense	probably damaging	1.00
R5586:Gm12800	UTSW	4	101910120	missense	probably benign	0.00
R5822:Gm12800	UTSW	4	101910243	missense	probably damaging	1.00
R6395:Gm12800	UTSW	4	101909992	missense	probably benign
R6904:Gm12800	UTSW	4	101910094	missense	possibly damaging	0.86
R7544:Gm12800	UTSW	4	101911402	missense	possibly damaging	0.56
R7768:Gm12800	UTSW	4	101911813	missense	probably benign
R8342:Gm12800	UTSW	4	101910384	missense	probably benign	0.01
R8917:Gm12800	UTSW	4	101911738	missense	probably benign	0.09
Z1088:Gm12800	UTSW	4	101910186	missense	probably benign	0.00
Z1088:Gm12800	UTSW	4	101909118	splice site	probably null

Posted On

2016-08-02