Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01870:Gm12794'

178682

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Gm12794

Ensembl Gene

ENSMUSG00000070890

Gene Name

predicted gene 12794

Synonyms

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.050) question?

Stock #

IGL01870

Quality Score

Status

Chromosome

Chromosomal Location

101940407-101943183 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 101940690 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Histidine at position 95 (L95H)

Ref Sequence

ENSEMBL: ENSMUSP00000051550 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000052027]

AlphaFold

L7MTS5

Predicted Effect

probably benign
Transcript: ENSMUST00000052027
AA Change: L95H

PolyPhen 2 Score 0.032 (Sensitivity: 0.95; Specificity: 0.82)

SMART Domains

Protein: ENSMUSP00000051550
Gene: ENSMUSG00000070890
AA Change: L95H

Domain	Start	End	E-Value	Type
SCOP:d1a4ya_	257	409	9e-11	SMART

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 32 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Agtr1a	A	G	13: 30,381,327	D125G	probably damaging	Het
Arhgap31	T	C	16: 38,618,242	K300E	probably damaging	Het
Cma2	C	A	14: 55,973,737	S162Y	probably benign	Het
Cntn4	A	G	6: 106,489,715	T193A	possibly damaging	Het
Col22a1	T	A	15: 71,952,528	M556L	probably benign	Het
Dld	A	G	12: 31,335,467	S292P	possibly damaging	Het
Dnah6	A	T	6: 73,032,569	D3746E	probably benign	Het
Eea1	A	G	10: 95,973,986	T9A	probably damaging	Het
Fam102a	T	C	2: 32,566,282	S319P	probably benign	Het
Gbf1	A	G	19: 46,285,669	K1714R	probably benign	Het
Gm10718	A	T	9: 3,025,118	Y194F	probably benign	Het
H2-M1	A	T	17: 36,670,063	M327K	probably benign	Het
Ifnz	T	A	4: 88,783,311	S176T	possibly damaging	Het
Irak4	T	C	15: 94,547,870	Y10H	probably benign	Het
Irx5	T	C	8: 92,359,777	F163L	probably damaging	Het
Jak3	C	T	8: 71,680,790	P376S	probably damaging	Het
Lrrc25	T	C	8: 70,617,787	S73P	possibly damaging	Het
Macf1	C	T	4: 123,474,113	G2285D	probably damaging	Het
Muc4	A	T	16: 32,753,196	T1025S	probably benign	Het
Mylk2	A	G	2: 152,915,214	N303S	probably benign	Het
Olfr111	G	A	17: 37,530,664	R229H	probably benign	Het
Pcnx	T	C	12: 81,975,893	V1512A	probably benign	Het
Phlda3	A	G	1: 135,766,638	S64G	probably benign	Het
Pptc7	C	A	5: 122,313,602	S40R	probably damaging	Het
Ptpn4	A	C	1: 119,675,547		probably null	Het
Slc10a1	T	C	12: 80,960,528	M160V	probably benign	Het
Stac	T	C	9: 111,572,332	I349V	probably benign	Het
Synm	A	G	7: 67,736,118	S157P	possibly damaging	Het
Tbc1d9b	T	C	11: 50,162,088	L924P	probably damaging	Het
Tcaf2	C	T	6: 42,624,477	V883I	possibly damaging	Het
Upp1	T	C	11: 9,125,700		probably null	Het
Whamm	C	T	7: 81,595,974	T726I	probably damaging	Het

Other mutations in Gm12794

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00484:Gm12794	APN	4	101941701	missense	probably benign	0.02
IGL01360:Gm12794	APN	4	101940468	missense	possibly damaging	0.94
IGL01837:Gm12794	APN	4	101941453	missense	probably damaging	1.00
IGL02040:Gm12794	APN	4	101941134	missense	possibly damaging	0.94
IGL03264:Gm12794	APN	4	101941132	missense	probably damaging	0.99
R0033:Gm12794	UTSW	4	101941684	missense	probably benign
R0334:Gm12794	UTSW	4	101941584	missense	probably benign	0.01
R0846:Gm12794	UTSW	4	101941250	missense	probably benign	0.00
R1464:Gm12794	UTSW	4	101941306	missense	probably damaging	0.97
R1464:Gm12794	UTSW	4	101941306	missense	probably damaging	0.97
R1774:Gm12794	UTSW	4	101940458	missense	probably benign	0.27
R1888:Gm12794	UTSW	4	101941138	missense	probably damaging	0.99
R1888:Gm12794	UTSW	4	101941138	missense	probably damaging	0.99
R4510:Gm12794	UTSW	4	101941560	missense	probably benign	0.00
R4511:Gm12794	UTSW	4	101941560	missense	probably benign	0.00
R4890:Gm12794	UTSW	4	101941591	missense	probably damaging	0.99
R4960:Gm12794	UTSW	4	101941464	missense	probably benign
R5043:Gm12794	UTSW	4	101940524	missense	possibly damaging	0.89
R5297:Gm12794	UTSW	4	101941151	missense	possibly damaging	0.46
R5780:Gm12794	UTSW	4	101941527	missense	probably damaging	1.00
R5957:Gm12794	UTSW	4	101941701	missense	probably benign	0.02
R6409:Gm12794	UTSW	4	101940677	nonsense	probably null
R6452:Gm12794	UTSW	4	101941443	missense	probably benign	0.02
R7619:Gm12794	UTSW	4	101941300	missense	probably benign	0.01
R8460:Gm12794	UTSW	4	101941227	missense	probably benign	0.00
R9202:Gm12794	UTSW	4	101940663	missense	probably damaging	0.98
Z1177:Gm12794	UTSW	4	101941125	nonsense	probably null

Posted On

2014-05-07