Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02195:Gatb'

284032

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: 0.963) question?

Stock #

IGL02195

Quality Score

Status

Chromosome

Chromosomal Location

85574119-85655622 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 85604448 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Phenylalanine at position 170 (Y170F)

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: Y170F

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000103299
Gene: ENSMUSG00000028085
AA Change: Y170F

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 benign
Transcript: ENSMUST00000107674
AA Change: Y170F

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000103301
Gene: ENSMUSG00000028085
AA Change: Y170F

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 benign
Transcript: ENSMUST00000127348
AA Change: Y170F

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000119949
Gene: ENSMUSG00000028085
AA Change: Y170F

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: 32 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2410131K14Rik	T	C	5: 118,259,397	L148P	probably damaging	Het
Anpep	G	T	7: 79,826,685	A65D	probably damaging	Het
Birc6	C	T	17: 74,697,381		probably benign	Het
Car11	G	T	7: 45,701,292	V71L	probably damaging	Het
Cecr2	A	G	6: 120,731,406	Y123C	probably damaging	Het
Dnm2	G	A	9: 21,425,249	V52M	probably damaging	Het
Fbxo21	T	A	5: 118,002,154	C560S	probably damaging	Het
Ighv1-54	A	T	12: 115,193,950	S26T	possibly damaging	Het
Ints8	A	T	4: 11,221,222	W718R	probably damaging	Het
Iqgap2	T	A	13: 95,661,734		probably benign	Het
Kif4	T	C	X: 100,726,216	F1154S	probably damaging	Het
Klhl18	A	G	9: 110,438,902	C253R	possibly damaging	Het
Lilra6	T	C	7: 3,914,550	S149G	probably benign	Het
Lonrf1	G	A	8: 36,219,948	R745*	probably null	Het
Manea	A	C	4: 26,340,628	Y111*	probably null	Het
Map2k1	A	G	9: 64,193,808	I196T	probably benign	Het
Matn4	T	C	2: 164,401,052	D42G	probably damaging	Het
Meioc	C	A	11: 102,674,857	T433K	possibly damaging	Het
Mtmr7	A	G	8: 40,560,905	V204A	probably damaging	Het
Nus1	A	G	10: 52,433,369	D91G	probably damaging	Het
Olfr160	A	G	9: 37,712,121	S53P	probably benign	Het
Pisd	A	G	5: 32,737,315	L549P	probably damaging	Het
Plcg1	T	C	2: 160,753,926	Y572H	possibly damaging	Het
Prdm15	A	G	16: 97,835,829	V96A	probably damaging	Het
Prune2	C	A	19: 17,119,557	D808E	probably benign	Het
Sema5b	G	A	16: 35,660,479		probably null	Het
Shank3	A	T	15: 89,548,118	Q947L	probably damaging	Het
Sned1	A	G	1: 93,274,160	E616G	probably benign	Het
Snx18	T	C	13: 113,616,840	H519R	probably damaging	Het
Syde2	A	G	3: 146,002,156	T617A	probably damaging	Het
Tmem139	G	T	6: 42,263,967	R162L	probably damaging	Het
Trim72	A	T	7: 128,007,964	M222L	probably damaging	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
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

2015-04-16