Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL03035:Gatb'

408633

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

Essential gene?

Probably essential (E-score: 0.960) question?

Stock #

IGL03035

Quality Score

Status

Chromosome

Chromosomal Location

85574119-85655622 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 85601947 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Lysine to Glutamic Acid at position 139 (K139E)

Ref Sequence

ENSEMBL: ENSMUSP00000119949 (fasta)

Gene Model

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

AlphaFold

Q99JT1

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000029726

Predicted Effect

probably damaging
Transcript: ENSMUST00000107672
AA Change: K139E

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000103299
Gene: ENSMUSG00000028085
AA Change: K139E

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

probably damaging
Transcript: ENSMUST00000107674
AA Change: K139E

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000103301
Gene: ENSMUSG00000028085
AA Change: K139E

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

probably damaging
Transcript: ENSMUST00000127348
AA Change: K139E

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000119949
Gene: ENSMUSG00000028085
AA Change: K139E

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: 41 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcc9	A	G	6: 142,627,593	L1004P	probably damaging	Het
Adgrf5	T	C	17: 43,430,627	I385T	possibly damaging	Het
Alpk3	T	C	7: 81,078,604	V494A	probably benign	Het
Camta2	C	A	11: 70,671,509	E1021*	probably null	Het
Ccdc6	T	A	10: 70,182,176	S334T	probably benign	Het
Cd84	T	C	1: 171,852,034	V93A	probably damaging	Het
Ceacam20	T	C	7: 19,977,908		probably null	Het
Crip2	A	C	12: 113,144,125	T103P	probably benign	Het
Cyp4f14	T	A	17: 32,914,634	T83S	probably benign	Het
Dapk1	T	A	13: 60,716,773	V127D	probably damaging	Het
Dnah7c	A	G	1: 46,524,117	E609G	probably benign	Het
Dscam	T	A	16: 96,819,970	I513F	possibly damaging	Het
Ell2	T	A	13: 75,763,648	L351*	probably null	Het
Emcn	G	T	3: 137,372,851		probably null	Het
Fdft1	A	T	14: 63,163,389	C98*	probably null	Het
Fer1l4	A	G	2: 156,022,606	S1663P	possibly damaging	Het
Flt4	C	A	11: 49,645,897	Y1231*	probably null	Het
Gm13212	C	A	4: 145,622,232	Q80K	possibly damaging	Het
Gtf2a1	C	A	12: 91,572,637		probably benign	Het
Gtf3c2	A	C	5: 31,166,014	V574G	possibly damaging	Het
Heatr1	T	C	13: 12,413,219		probably benign	Het
Homer2	T	A	7: 81,624,278	T57S	possibly damaging	Het
Ice2	C	A	9: 69,425,688	F825L	probably benign	Het
Lepr	C	A	4: 101,764,980	L370I	probably damaging	Het
Nalcn	G	A	14: 123,278,218	Q1724*	probably null	Het
Nufip1	A	G	14: 76,115,818	D222G	probably damaging	Het
Olfr1289	T	C	2: 111,483,823	V159A	probably benign	Het
Prl3b1	A	G	13: 27,249,533		probably benign	Het
Ptbp3	A	T	4: 59,477,218	M393K	probably benign	Het
Ptgds	T	C	2: 25,469,610	T22A	probably benign	Het
Rapgef2	T	A	3: 79,094,424	H282L	probably damaging	Het
Rars2	T	C	4: 34,656,865		probably null	Het
Rnf213	G	A	11: 119,445,626		probably benign	Het
Ros1	C	A	10: 52,075,984		probably benign	Het
Slx4ip	A	G	2: 137,067,703	D206G	possibly damaging	Het
Sprr1a	T	A	3: 92,484,577	D39V	probably benign	Het
Stab1	A	G	14: 31,147,769	V1442A	probably benign	Het
Tbx3	C	A	5: 119,683,096		probably benign	Het
Ubl3	A	G	5: 148,506,137	*118Q	probably null	Het
Vmn2r55	G	A	7: 12,670,816	S220L	probably benign	Het
Vps36	A	G	8: 22,218,415	K362E	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
IGL01650:Gatb	APN	3	85613484	missense	possibly damaging	0.68
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
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

2016-08-02