Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02474:Gm5799'

294840

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Gm5799

Ensembl Gene

ENSMUSG00000091477

Gene Name

predicted gene 5799

Synonyms

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.067) question?

Stock #

IGL02474

Quality Score

Status

Chromosome

Chromosomal Location

43781088-43788650 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 43782086 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Threonine at position 86 (I86T)

Ref Sequence

ENSEMBL: ENSMUSP00000129052 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000169023]

AlphaFold

E9Q2M1

Predicted Effect

probably damaging
Transcript: ENSMUST00000169023
AA Change: I86T

PolyPhen 2 Score 0.975 (Sensitivity: 0.76; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000129052
Gene: ENSMUSG00000091477
AA Change: I86T

Domain	Start	End	E-Value	Type
Pfam:Takusan	48	128	1.3e-26	PFAM
low complexity region	187	198	N/A	INTRINSIC

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 43 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Afdn	A	G	17: 14,038,491 (GRCm39)	E283G	probably damaging	Het
Ahnak	A	G	19: 8,982,297 (GRCm39)	I1194V	probably benign	Het
Aqr	T	A	2: 113,943,127 (GRCm39)	N1149Y	probably damaging	Het
Bms1	T	C	6: 118,393,480 (GRCm39)	I131V	probably benign	Het
Cacna1s	A	C	1: 136,046,118 (GRCm39)	T1461P	probably benign	Het
Chrnb3	T	C	8: 27,883,397 (GRCm39)	S113P	probably damaging	Het
Col1a2	C	T	6: 4,516,398 (GRCm39)	R171C	unknown	Het
Cramp1	A	G	17: 25,204,024 (GRCm39)	V318A	probably damaging	Het
Csf2ra	A	G	19: 61,214,975 (GRCm39)	V163A	possibly damaging	Het
Csgalnact1	C	A	8: 68,854,144 (GRCm39)	G219V	probably damaging	Het
Ctnnd2	A	G	15: 30,669,708 (GRCm39)	D439G	possibly damaging	Het
Dnah11	T	A	12: 117,991,180 (GRCm39)		probably null	Het
Dyrk4	C	A	6: 126,857,194 (GRCm39)	C495F	probably damaging	Het
Gabra6	A	G	11: 42,198,244 (GRCm39)	V402A	probably benign	Het
Gba2	T	C	4: 43,568,538 (GRCm39)	M643V	possibly damaging	Het
Gbp9	A	T	5: 105,242,433 (GRCm39)		probably benign	Het
Ginm1	A	G	10: 7,653,532 (GRCm39)		probably benign	Het
Git1	T	A	11: 77,394,217 (GRCm39)	D282E	probably damaging	Het
Gm9894	T	C	13: 67,913,213 (GRCm39)		noncoding transcript	Het
Gng12	A	G	6: 66,992,745 (GRCm39)	K4R	probably benign	Het
Hnrnpul1	A	T	7: 25,426,182 (GRCm39)	D556E	probably benign	Het
Kat6b	T	A	14: 21,719,107 (GRCm39)	L1153Q	possibly damaging	Het
Ly75	A	T	2: 60,213,526 (GRCm39)	L17Q	probably null	Het
Mc5r	T	C	18: 68,471,910 (GRCm39)	F90L	probably damaging	Het
Or1x2	C	A	11: 50,918,192 (GRCm39)	A121D	probably damaging	Het
Or5k8	A	T	16: 58,645,019 (GRCm39)	S18T	probably benign	Het
Or6b13	T	C	7: 139,782,500 (GRCm39)	Y61C	probably damaging	Het
Or7c70	A	T	10: 78,682,897 (GRCm39)	M284K	probably damaging	Het
Or8b9	A	T	9: 37,766,656 (GRCm39)	I181L	probably benign	Het
Pi4ka	A	T	16: 17,143,293 (GRCm39)	Y6N	probably damaging	Het
Polr2g	C	A	19: 8,775,820 (GRCm39)		probably null	Het
Psme3	A	G	11: 101,208,480 (GRCm39)	Q82R	probably benign	Het
Rab11a	G	T	9: 64,633,929 (GRCm39)	T17K	possibly damaging	Het
Rbm12	A	T	2: 155,940,017 (GRCm39)	L85Q	probably damaging	Het
Skap1	A	T	11: 96,599,512 (GRCm39)	Y188F	probably damaging	Het
Tmprss6	A	T	15: 78,326,536 (GRCm39)	F34I	probably damaging	Het
Trip12	A	C	1: 84,771,854 (GRCm39)	I98S	probably benign	Het
Ttn	T	C	2: 76,708,532 (GRCm39)		probably benign	Het
Ube2t	A	T	1: 134,899,079 (GRCm39)	K21*	probably null	Het
Vmn1r216	T	C	13: 23,283,647 (GRCm39)	V110A	possibly damaging	Het
Vmn2r109	A	T	17: 20,761,150 (GRCm39)	F736I	probably benign	Het
Vps13c	A	G	9: 67,845,158 (GRCm39)	T2081A	probably benign	Het
Zfp13	C	T	17: 23,795,072 (GRCm39)	A493T	probably benign	Het

Other mutations in Gm5799

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
R3799:Gm5799	UTSW	14	43,781,150 (GRCm39)	missense	probably damaging	1.00
R4801:Gm5799	UTSW	14	43,782,005 (GRCm39)	missense	probably damaging	0.96
R4802:Gm5799	UTSW	14	43,782,005 (GRCm39)	missense	probably damaging	0.96
R4821:Gm5799	UTSW	14	43,782,098 (GRCm39)	missense	probably damaging	0.99
R5173:Gm5799	UTSW	14	43,782,116 (GRCm39)	missense	probably damaging	0.98
R6195:Gm5799	UTSW	14	43,782,088 (GRCm39)	missense	probably damaging	0.98
R6233:Gm5799	UTSW	14	43,782,088 (GRCm39)	missense	probably damaging	0.98
R7308:Gm5799	UTSW	14	43,781,164 (GRCm39)	missense	possibly damaging	0.93
R7412:Gm5799	UTSW	14	43,781,995 (GRCm39)	missense	possibly damaging	0.75

Posted On

2015-04-16