Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL03274:Gm4952'

415369

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Gm4952

Ensembl Gene

ENSMUSG00000071633

Gene Name

predicted gene 4952

Synonyms

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.054) question?

Stock #

IGL03274

Quality Score

Status

Chromosome

Chromosomal Location

12577348-12604980 bp(+) (GRCm39)

Type of Mutation

splice site

DNA Base Change (assembly)

C to A at 12600960 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000137934 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000092931] [ENSMUST00000181868]

AlphaFold

Q5FW57

Predicted Effect

probably benign
Transcript: ENSMUST00000092931

SMART Domains

Protein: ENSMUSP00000090607
Gene: ENSMUSG00000071633

Domain	Start	End	E-Value	Type
Pfam:Gly_acyl_tr_N	1	206	2.6e-90	PFAM
Pfam:Gly_acyl_tr_C	207	295	2.7e-46	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000181868

SMART Domains

Protein: ENSMUSP00000137934
Gene: ENSMUSG00000071633

Domain	Start	End	E-Value	Type
Pfam:Gly_acyl_tr_N	1	206	3.7e-112	PFAM

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
Adissp	A	T	2: 130,995,512 (GRCm39)		probably null	Het
Anln	C	A	9: 22,293,565 (GRCm39)	R26M	probably damaging	Het
Capn15	A	T	17: 26,180,812 (GRCm39)	S753T	probably damaging	Het
Ccdc62	A	G	5: 124,092,743 (GRCm39)	N576S	probably benign	Het
Csmd3	T	C	15: 47,508,900 (GRCm39)	D2895G	probably damaging	Het
Dspp	T	A	5: 104,322,814 (GRCm39)	V37E	probably damaging	Het
Efcab3	A	T	11: 104,611,919 (GRCm39)	D587V	probably benign	Het
Efcab6	T	C	15: 83,752,450 (GRCm39)	D1473G	probably damaging	Het
Ehhadh	T	C	16: 21,582,090 (GRCm39)		probably benign	Het
Fbln1	T	C	15: 85,116,879 (GRCm39)		probably null	Het
Gbp9	A	G	5: 105,230,652 (GRCm39)	V424A	possibly damaging	Het
Gda	T	C	19: 21,394,371 (GRCm39)	Y236C	possibly damaging	Het
Gm4884	A	G	7: 40,693,969 (GRCm39)	E646G	probably damaging	Het
Gm5422	G	T	10: 31,126,348 (GRCm39)		noncoding transcript	Het
Grin2b	C	T	6: 135,757,253 (GRCm39)	D403N	possibly damaging	Het
Hsf2bp	G	A	17: 32,226,744 (GRCm39)	R204C	probably damaging	Het
Il16	T	C	7: 83,310,442 (GRCm39)	E488G	probably damaging	Het
Kat6b	G	T	14: 21,659,831 (GRCm39)	D212Y	possibly damaging	Het
Kctd2	A	C	11: 115,320,208 (GRCm39)	I247L	possibly damaging	Het
Kel	T	A	6: 41,664,929 (GRCm39)		probably null	Het
Krt20	A	T	11: 99,320,855 (GRCm39)		probably benign	Het
Litaf	T	C	16: 10,784,433 (GRCm39)	T26A	probably damaging	Het
N4bp2l2	G	T	5: 150,584,931 (GRCm39)	Q350K	probably damaging	Het
Nav2	T	G	7: 49,011,847 (GRCm39)	I26S	probably damaging	Het
Nfya	A	G	17: 48,698,375 (GRCm39)	Y162H	probably damaging	Het
Or2g25	C	T	17: 37,970,646 (GRCm39)	A193T	probably benign	Het
Pbx4	A	T	8: 70,319,200 (GRCm39)	S244C	probably damaging	Het
Pcdhb16	T	C	18: 37,612,285 (GRCm39)	V415A	probably benign	Het
Rbbp8	A	G	18: 11,874,133 (GRCm39)		probably benign	Het
Sp100	T	C	1: 85,635,025 (GRCm39)		probably benign	Het
Spag16	A	G	1: 69,883,540 (GRCm39)		probably benign	Het
Star	A	G	8: 26,301,082 (GRCm39)	D138G	possibly damaging	Het

Other mutations in Gm4952

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00898:Gm4952	APN	19	12,595,772 (GRCm39)	missense	probably damaging	1.00
IGL00990:Gm4952	APN	19	12,600,987 (GRCm39)	missense	probably damaging	1.00
IGL01542:Gm4952	APN	19	12,595,771 (GRCm39)	missense	possibly damaging	0.76
IGL01714:Gm4952	APN	19	12,602,075 (GRCm39)	missense	probably benign	0.16
IGL02339:Gm4952	APN	19	12,604,275 (GRCm39)	missense	probably damaging	0.98
IGL03068:Gm4952	APN	19	12,601,068 (GRCm39)	missense	probably damaging	0.99
IGL03100:Gm4952	APN	19	12,602,083 (GRCm39)	critical splice donor site	probably null
IGL03295:Gm4952	APN	19	12,595,691 (GRCm39)	missense	probably benign	0.39
PIT4520001:Gm4952	UTSW	19	12,602,048 (GRCm39)	missense	probably benign	0.12
R0604:Gm4952	UTSW	19	12,602,036 (GRCm39)	missense	probably benign	0.07
R1221:Gm4952	UTSW	19	12,601,059 (GRCm39)	missense	possibly damaging	0.51
R1513:Gm4952	UTSW	19	12,602,039 (GRCm39)	missense	probably damaging	0.99
R1514:Gm4952	UTSW	19	12,604,278 (GRCm39)	missense	probably damaging	1.00
R1804:Gm4952	UTSW	19	12,595,784 (GRCm39)	missense	probably damaging	0.98
R1928:Gm4952	UTSW	19	12,600,973 (GRCm39)	missense	probably damaging	0.99
R2447:Gm4952	UTSW	19	12,595,770 (GRCm39)	missense	possibly damaging	0.70
R4930:Gm4952	UTSW	19	12,604,376 (GRCm39)	missense	probably benign	0.00
R5360:Gm4952	UTSW	19	12,600,993 (GRCm39)	missense	probably benign	0.08
R5704:Gm4952	UTSW	19	12,604,275 (GRCm39)	missense	probably damaging	1.00
R7143:Gm4952	UTSW	19	12,595,771 (GRCm39)	missense	possibly damaging	0.76
R7332:Gm4952	UTSW	19	12,604,373 (GRCm39)	missense	probably damaging	1.00
R7420:Gm4952	UTSW	19	12,604,265 (GRCm39)	missense	probably damaging	1.00
R7702:Gm4952	UTSW	19	12,604,428 (GRCm39)	missense	probably benign	0.00
R9573:Gm4952	UTSW	19	12,604,090 (GRCm39)	missense	probably benign	0.01

Posted On

2016-08-02