Mutagenetix > Incidental Mutation

Incidental Mutation 'R5218:Gatb'

403588

Institutional Source

Beutler Lab

Gene Symbol

Gatb

Ensembl Gene

ENSMUSG00000028085

Gene Name

glutamyl-tRNA(Gln) amidotransferase, subunit B

Synonyms

Pet112, Pet112l, 9430026F02Rik

MMRRC Submission

042791-MU

Accession Numbers

Is this an essential gene?

Probably essential (E-score: 0.962) question?

Stock #

R5218 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

85574119-85655622 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 85604444 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Valine at position 169 (I169V)

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 benign
Transcript: ENSMUST00000107672
AA Change: I169V

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

SMART Domains

Protein: ENSMUSP00000103299
Gene: ENSMUSG00000028085
AA Change: I169V

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: I169V

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

SMART Domains

Protein: ENSMUSP00000103301
Gene: ENSMUSG00000028085
AA Change: I169V

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: I169V

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

SMART Domains

Protein: ENSMUSP00000119949
Gene: ENSMUSG00000028085
AA Change: I169V

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

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 99.3%
3x: 98.7%
10x: 97.5%
20x: 95.9%

Validation Efficiency

100% (60/60)

Allele List at MGI

Other mutations in this stock

Total: 56 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1810011H11Rik	T	A	14: 32,816,836		probably null	Het
4921524L21Rik	T	A	18: 6,629,628	N230K	possibly damaging	Het
4933428M09Rik	G	T	X: 139,179,533	G16*	probably null	Het
5830473C10Rik	A	G	5: 90,581,918	K400R	probably benign	Het
Amigo1	A	G	3: 108,187,770		probably null	Het
Arhgap30	A	T	1: 171,408,760	T901S	probably benign	Het
Arpp21	T	C	9: 112,143,431	D264G	probably damaging	Het
Ccbe1	C	T	18: 66,083,158	G165S	probably damaging	Het
Celsr1	T	C	15: 85,932,384	D1786G	probably damaging	Het
Cntn1	T	C	15: 92,339,549	L1008P	unknown	Het
Dclk2	T	A	3: 86,805,678	D489V	probably damaging	Het
Dip2b	T	A	15: 100,154,296	D259E	probably benign	Het
Disp3	T	C	4: 148,242,876	S1184G	possibly damaging	Het
Dync1li2	C	T	8: 104,442,547	W36*	probably null	Het
Ece2	A	T	16: 20,618,540	M211L	probably benign	Het
Edn3	C	T	2: 174,761,552	A31V	probably benign	Het
Enpp2	T	C	15: 54,887,586	Q266R	possibly damaging	Het
Fabp1	C	A	6: 71,199,960	Q12K	probably damaging	Het
Flt1	G	A	5: 147,681,928	T199M	probably damaging	Het
Galns	T	A	8: 122,598,589	I275F	probably damaging	Het
Gapvd1	T	C	2: 34,728,476	D295G	probably benign	Het
Gpd1	T	A	15: 99,720,130	I109N	probably damaging	Het
Gps2	T	C	11: 69,916,295		probably null	Het
Hsd17b12	T	C	2: 94,083,263	N99D	probably benign	Het
Itga3	A	T	11: 95,062,748	V256E	probably benign	Het
Kcnma1	T	A	14: 23,463,185	Y527F	probably damaging	Het
Lamc1	C	A	1: 153,227,696	V1375L	probably damaging	Het
Lrp1	C	A	10: 127,548,619	E3580D	probably damaging	Het
Ltbp4	AATTCAGGCCAAGGCTGGGATTCAGGCCGAGGCCGGGATTCAGGCCTAGGCTGGGATTCAGGC	AATTCAGGCCTAGGCTGGGATTCAGGC	7: 27,327,311		probably benign	Het
Medag	A	T	5: 149,422,254		probably benign	Het
Ncdn	C	A	4: 126,750,810	R73L	probably benign	Het
Nr4a1	T	C	15: 101,272,153	V339A	probably benign	Het
Ocln	G	T	13: 100,506,314	P420Q	probably damaging	Het
Olfr206	A	T	16: 59,344,907	S265T	probably benign	Het
Pank4	C	T	4: 154,979,728	T681I	probably benign	Het
Pcdhb6	T	A	18: 37,334,335	V103E	possibly damaging	Het
Pcsk6	T	C	7: 66,025,288	F469S	probably benign	Het
Phrf1	A	G	7: 141,261,301	N1353S	possibly damaging	Het
Pou6f2	A	G	13: 18,152,001	I72T	probably damaging	Het
Ppig	T	C	2: 69,732,783		probably benign	Het
Ptprh	T	C	7: 4,597,920	S153G	probably benign	Het
Rab11b	T	C	17: 33,748,950	N91S	probably benign	Het
Scara5	CG	C	14: 65,759,662		probably null	Het
Slc2a9	A	G	5: 38,453,181	S92P	probably damaging	Het
Slit3	G	A	11: 35,684,175		probably null	Het
Sox5	T	C	6: 143,960,890	I280V	possibly damaging	Het
Stam2	G	A	2: 52,736,293		probably benign	Het
Tdrd9	C	T	12: 112,063,475		probably benign	Het
Tmem74	A	T	15: 43,867,244	N134K	possibly damaging	Het
Ttn	A	T	2: 76,811,243	L5176Q	possibly damaging	Het
Txnl1	T	G	18: 63,679,467	K85N	probably benign	Het
Vmn2r77	T	A	7: 86,802,133	M409K	probably damaging	Het
Wipf1	T	C	2: 73,444,468	D53G	probably damaging	Het
Wnt10a	G	A	1: 74,793,595	V116I	probably benign	Het
Xpot	T	A	10: 121,619,138	D33V	probably damaging	Het
Znrf3	C	T	11: 5,281,519	V665M	possibly 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
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
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

Predicted Primers

PCR Primer
(F):5'- GACAGGTTAATTATGCCAGCAG -3'
(R):5'- AAACCTGGCAGGACCCTCTAAG -3'

Sequencing Primer
(F):5'- CCTTGTTTCTCCTGTTATTTGGG -3'
(R):5'- TGCTTAAGGACATCCAGCTG -3'

Posted On

2016-07-22