Mutagenetix > Incidental Mutation

Incidental Mutation 'R6031:Gatb'

486254

Institutional Source

Beutler Lab

Gene Symbol

Gatb

Ensembl Gene

ENSMUSG00000028085

Gene Name

glutamyl-tRNA(Gln) amidotransferase, subunit B

Synonyms

Pet112, Pet112l, 9430026F02Rik

MMRRC Submission

044203-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.964) question?

Stock #

R6031 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

85574119-85655622 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 85613511 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Threonine at position 309 (I309T)

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: I309T

PolyPhen 2 Score 0.246 (Sensitivity: 0.91; Specificity: 0.88)

SMART Domains

Protein: ENSMUSP00000103299
Gene: ENSMUSG00000028085
AA Change: I309T

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: I309T

PolyPhen 2 Score 0.482 (Sensitivity: 0.89; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000103301
Gene: ENSMUSG00000028085
AA Change: I309T

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: I309T

PolyPhen 2 Score 0.821 (Sensitivity: 0.84; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000119949
Gene: ENSMUSG00000028085
AA Change: I309T

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

1x: 99.9%
3x: 99.7%
10x: 98.4%
20x: 95.6%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 65 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700010I14Rik	T	C	17: 8,995,252	Y304H	possibly damaging	Het
Add2	A	G	6: 86,098,673	E268G	probably damaging	Het
Akr1b3	A	C	6: 34,312,674	V67G	probably benign	Het
Alms1	A	T	6: 85,622,955	N1588Y	probably damaging	Het
Arhgap23	A	T	11: 97,476,139	D1082V	probably damaging	Het
Asb6	A	G	2: 30,824,195	V301A	probably benign	Het
Ascc3	C	T	10: 50,842,183	R1991*	probably null	Het
Atg7	T	A	6: 114,671,233	C31S	probably benign	Het
Camsap2	A	T	1: 136,280,438	N1105K	possibly damaging	Het
Ccdc125	C	T	13: 100,684,369		probably null	Het
Ccdc63	T	C	5: 122,129,736	I56V	possibly damaging	Het
Cpd	T	C	11: 76,790,888	E1143G	probably benign	Het
Cpt1a	T	A	19: 3,371,556		probably null	Het
Creb3l2	A	T	6: 37,334,434	D473E	probably benign	Het
Disp2	G	T	2: 118,789,794	V336L	probably benign	Het
Efr3b	A	G	12: 3,967,106	I782T	possibly damaging	Het
Fam98a	A	G	17: 75,539,432	V230A	probably damaging	Het
Fat3	T	A	9: 15,988,492	T3082S	probably benign	Het
Frmd3	T	C	4: 74,187,451	Y445H	probably damaging	Het
Galt	G	A	4: 41,757,202	R185Q	probably benign	Het
Gfi1b	G	A	2: 28,613,808	Q127*	probably null	Het
Gfpt1	C	A	6: 87,086,320	T563N	probably damaging	Het
Gria1	A	G	11: 57,217,782	D237G	probably damaging	Het
Hspbp1	A	T	7: 4,663,466	V305D	probably benign	Het
Hyls1	G	A	9: 35,561,184	S312F	probably benign	Het
Iars	T	C	13: 49,705,831	V9A	probably damaging	Het
Ipo4	G	A	14: 55,632,139	P355S	probably damaging	Het
Jade2	G	T	11: 51,826,586	C314*	probably null	Het
Kri1	T	C	9: 21,275,269	E597G	probably benign	Het
Mcub	A	G	3: 129,926,389	Y152H	probably damaging	Het
Med23	C	T	10: 24,903,748	R542*	probably null	Het
Ndc80	T	C	17: 71,511,488	N291S	probably benign	Het
Nop2	T	C	6: 125,133,566		probably null	Het
Nrxn1	T	C	17: 90,588,790	N984S	probably damaging	Het
Ntm	A	C	9: 29,009,375	L86R	probably damaging	Het
Numa1	T	A	7: 102,012,012	D1847E	possibly damaging	Het
Odf2l	A	G	3: 145,139,863	Q334R	probably damaging	Het
Olfr1238	T	A	2: 89,406,972	T36S	probably damaging	Het
Olfr1333	A	T	4: 118,830,391		probably null	Het
Olfr199	T	C	16: 59,215,933	R227G	probably benign	Het
Olfr522	A	T	7: 140,162,809	V47E	possibly damaging	Het
Olfr706	C	T	7: 106,885,927	V297I	possibly damaging	Het
Olfr772	A	G	10: 129,174,355	V222A	probably benign	Het
Pcdhb19	A	T	18: 37,497,723	K190N	probably damaging	Het
Pdik1l	A	G	4: 134,279,041	F197L	probably damaging	Het
Rnf113a2	T	C	12: 84,417,990	F219L	probably damaging	Het
Rnf208	A	C	2: 25,243,764	T157P	probably damaging	Het
RP23-145I16.3	A	T	7: 142,376,714	C364S	probably damaging	Het
Scn8a	A	T	15: 100,983,984	D644V	probably damaging	Het
Thbs3	T	A	3: 89,218,094	C204S	probably damaging	Het
Tlr3	A	G	8: 45,398,528	I444T	probably damaging	Het
Tmem206	A	G	1: 191,340,840	R153G	probably benign	Het
Trpm8	A	T	1: 88,354,469	I696F	possibly damaging	Het
Ttn	A	T	2: 76,830,597	V7422D	possibly damaging	Het
Ufl1	A	G	4: 25,278,038	V139A	probably benign	Het
Uggt2	A	T	14: 119,070,826	V381D	probably benign	Het
Vgll3	T	A	16: 65,839,481	Y173N	probably damaging	Het
Vmn1r9	A	G	6: 57,071,173	T78A	probably benign	Het
Vps13b	T	A	15: 35,471,968	L806M	probably damaging	Het
Vps13d	A	C	4: 145,168,509	H394Q	probably benign	Het
Wdr53	T	A	16: 32,256,718	V247D	probably damaging	Het
Wdr81	A	T	11: 75,447,869	L1488Q	probably damaging	Het
Zc3h6	A	G	2: 128,967,812	D3G	possibly damaging	Het
Zfp93	G	T	7: 24,276,300	C570F	probably damaging	Het
Zfp943	C	T	17: 21,993,376	T481I	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
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
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'- TAAGGCCTTCCCAGTAGTGAG -3'
(R):5'- AGCAGACCATGTTTCATCCC -3'

Sequencing Primer
(F):5'- CTTCCCAGTAGTGAGAAGAAAATAC -3'
(R):5'- AGCAGACCATGTTTCATCCCTATGG -3'

Posted On

2017-08-16