Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01650:Gatb'

102810

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Gatb

Ensembl Gene

ENSMUSG00000028085

Gene Name

glutamyl-tRNA(Gln) amidotransferase, subunit B

Synonyms

Pet112, Pet112l, 9430026F02Rik

Accession Numbers

Is this an essential gene?

Probably essential (E-score: 0.961) question?

Stock #

IGL01650

Quality Score

Status

Chromosome

Chromosomal Location

85574119-85655622 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 85613484 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Threonine at position 300 (I300T)

Ref Sequence

ENSEMBL: ENSMUSP00000103301 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000107672] [ENSMUST00000107674] [ENSMUST00000127348] [ENSMUST00000154148]

AlphaFold

Q99JT1

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000029726

Predicted Effect

probably benign
Transcript: ENSMUST00000107672
AA Change: I300T

PolyPhen 2 Score 0.426 (Sensitivity: 0.89; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000103299
Gene: ENSMUSG00000028085
AA Change: I300T

Domain	Start	End	E-Value	Type
Pfam:GatB_N	65	353	8.3e-103	PFAM
Pfam:GatB_Yqey	406	472	6.3e-19	PFAM

Predicted Effect

possibly damaging
Transcript: ENSMUST00000107674
AA Change: I300T

PolyPhen 2 Score 0.683 (Sensitivity: 0.86; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000103301
Gene: ENSMUSG00000028085
AA Change: I300T

Domain	Start	End	E-Value	Type
Pfam:GatB_N	64	354	6.7e-105	PFAM
GatB_Yqey	406	518	2.09e-22	SMART

Predicted Effect

possibly damaging
Transcript: ENSMUST00000127348
AA Change: I300T

PolyPhen 2 Score 0.612 (Sensitivity: 0.87; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000119949
Gene: ENSMUSG00000028085
AA Change: I300T

Domain	Start	End	E-Value	Type
Pfam:GatB_N	65	353	8.3e-101	PFAM
GatB_Yqey	406	555	4.13e-53	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000154148

SMART Domains

Protein: ENSMUSP00000116393
Gene: ENSMUSG00000102805

Domain	Start	End	E-Value	Type
Arfaptin	1	227	7.15e-121	SMART

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 34 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4932438A13Rik	G	A	3: 36,992,673		probably benign	Het
Agbl1	A	G	7: 76,420,319	D281G	probably damaging	Het
Arhgap28	T	C	17: 67,873,132	E236G	probably damaging	Het
Btbd3	A	T	2: 138,284,105	D334V	probably damaging	Het
Cabp4	T	C	19: 4,139,324	E78G	probably benign	Het
Clcn4	T	C	7: 7,284,281		probably benign	Het
Col14a1	A	G	15: 55,406,693	Y600C	unknown	Het
Cpne4	A	G	9: 104,901,511	D167G	probably damaging	Het
Eif3a	T	A	19: 60,773,996	I450F	probably damaging	Het
Enpp2	T	A	15: 54,919,933	Y10F	probably benign	Het
Fam227a	A	T	15: 79,634,073	H339Q	possibly damaging	Het
Far2	C	A	6: 148,173,487	T406K	possibly damaging	Het
Fmo1	A	G	1: 162,833,584	S377P	probably benign	Het
Fsip2	G	A	2: 82,991,086	S5721N	probably benign	Het
Gpam	T	C	19: 55,081,700	N375D	probably benign	Het
Gsdma	G	T	11: 98,673,687	D331Y	probably damaging	Het
Kif13b	T	C	14: 64,765,145	V1073A	probably benign	Het
Mfsd4b1	T	A	10: 40,003,119	M261L	probably benign	Het
Nav1	A	T	1: 135,454,760	D1321E	probably damaging	Het
Olfr1312	A	G	2: 112,042,375	I219T	possibly damaging	Het
Olfr592	A	G	7: 103,187,079	I159M	probably benign	Het
Olfr813	T	A	10: 129,857,067	L183Q	probably damaging	Het
Olfr816	A	G	10: 129,911,681	V199A	probably benign	Het
Olfr951	G	T	9: 39,393,956	S55I	probably damaging	Het
Ppp1r10	G	T	17: 35,931,161	R857L	unknown	Het
Prune2	T	A	19: 17,168,292	I2752N	possibly damaging	Het
Pxdn	T	C	12: 30,002,401	I859T	probably benign	Het
Ros1	T	C	10: 52,154,979	D510G	probably damaging	Het
Sema3g	C	A	14: 31,221,787	P208H	probably benign	Het
Smcr8	T	C	11: 60,778,184	F53L	probably damaging	Het
Tnfsf13b	A	T	8: 10,031,411	I219F	probably damaging	Het
Vmn1r62	T	C	7: 5,676,025	V235A	probably damaging	Het
Vmn2r44	C	A	7: 8,380,104		probably null	Het
Zkscan7	A	G	9: 122,894,827	D287G	probably benign	Het

Other mutations in Gatb

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00094:Gatb	APN	3	85601920	missense	possibly damaging	0.95
IGL00963:Gatb	APN	3	85618948	missense	probably benign	0.00
IGL01363:Gatb	APN	3	85652345	missense	probably damaging	1.00
IGL01973:Gatb	APN	3	85611424	missense	probably damaging	1.00
IGL02195:Gatb	APN	3	85604448	missense	probably benign	0.00
IGL02670:Gatb	APN	3	85613551	splice site	probably null
IGL02992:Gatb	APN	3	85618916	missense	probably damaging	1.00
IGL03025:Gatb	APN	3	85575874	missense	probably damaging	0.99
IGL03035:Gatb	APN	3	85601947	missense	probably damaging	1.00
IGL03090:Gatb	APN	3	85619023	intron	probably benign
R1313:Gatb	UTSW	3	85653826	missense	probably benign	0.01
R1851:Gatb	UTSW	3	85618877	missense	probably damaging	0.99
R1852:Gatb	UTSW	3	85618877	missense	probably damaging	0.99
R2134:Gatb	UTSW	3	85611370	missense	probably damaging	1.00
R2209:Gatb	UTSW	3	85653805	missense	probably benign	0.03
R5189:Gatb	UTSW	3	85636931	missense	probably benign	0.00
R5218:Gatb	UTSW	3	85604444	missense	probably benign
R5857:Gatb	UTSW	3	85575932	missense	probably damaging	1.00
R5871:Gatb	UTSW	3	85653776	nonsense	probably null
R6031:Gatb	UTSW	3	85613511	missense	possibly damaging	0.82
R6031:Gatb	UTSW	3	85613511	missense	possibly damaging	0.82
R6430:Gatb	UTSW	3	85637038	missense	probably benign	0.01
R6661:Gatb	UTSW	3	85652419	splice site	probably null
R7184:Gatb	UTSW	3	85636951	nonsense	probably null
R7210:Gatb	UTSW	3	85574220	missense	probably benign
R7501:Gatb	UTSW	3	85636990	missense	probably damaging	0.99
R7919:Gatb	UTSW	3	85604521	missense	probably damaging	1.00
R8335:Gatb	UTSW	3	85574321	critical splice donor site	probably null
R8536:Gatb	UTSW	3	85604561	missense	probably damaging	0.99
R8867:Gatb	UTSW	3	85604409	missense	probably damaging	1.00
R9312:Gatb	UTSW	3	85653763	missense	probably damaging	1.00
R9330:Gatb	UTSW	3	85652494	missense	probably benign	0.03
X0013:Gatb	UTSW	3	85601861	missense	probably damaging	1.00
Z1177:Gatb	UTSW	3	85636973	missense	probably damaging	1.00

Posted On

2014-01-21