Mutagenetix > Incidental Mutation

Incidental Mutation 'R6031:Gatb'

486254

Institutional Source

Beutler Lab

Gene Symbol

Gatb

Ensembl Gene

ENSMUSG00000028085

Gene Name

glutamyl-tRNA amidotransferase subunit B

Synonyms

9430026F02Rik, Pet112, Pet112l

MMRRC Submission

044203-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.957) question?

Stock #

R6031 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

85481426-85562929 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 85520818 bp (GRCm39)

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: 9,214,084 (GRCm39)	Y304H	possibly damaging	Het
Add2	A	G	6: 86,075,655 (GRCm39)	E268G	probably damaging	Het
Akr1b1	A	C	6: 34,289,609 (GRCm39)	V67G	probably benign	Het
Alms1	A	T	6: 85,599,937 (GRCm39)	N1588Y	probably damaging	Het
Arhgap23	A	T	11: 97,366,965 (GRCm39)	D1082V	probably damaging	Het
Asb6	A	G	2: 30,714,207 (GRCm39)	V301A	probably benign	Het
Ascc3	C	T	10: 50,718,279 (GRCm39)	R1991*	probably null	Het
Atg7	T	A	6: 114,648,194 (GRCm39)	C31S	probably benign	Het
Camsap2	A	T	1: 136,208,176 (GRCm39)	N1105K	possibly damaging	Het
Ccdc125	C	T	13: 100,820,877 (GRCm39)		probably null	Het
Ccdc63	T	C	5: 122,267,799 (GRCm39)	I56V	possibly damaging	Het
Cpd	T	C	11: 76,681,714 (GRCm39)	E1143G	probably benign	Het
Cpt1a	T	A	19: 3,421,556 (GRCm39)		probably null	Het
Creb3l2	A	T	6: 37,311,369 (GRCm39)	D473E	probably benign	Het
Disp2	G	T	2: 118,620,275 (GRCm39)	V336L	probably benign	Het
Efr3b	A	G	12: 4,017,106 (GRCm39)	I782T	possibly damaging	Het
Fam98a	A	G	17: 75,846,427 (GRCm39)	V230A	probably damaging	Het
Fat3	T	A	9: 15,899,788 (GRCm39)	T3082S	probably benign	Het
Frmd3	T	C	4: 74,105,688 (GRCm39)	Y445H	probably damaging	Het
Galt	G	A	4: 41,757,202 (GRCm39)	R185Q	probably benign	Het
Gfi1b	G	A	2: 28,503,820 (GRCm39)	Q127*	probably null	Het
Gfpt1	C	A	6: 87,063,302 (GRCm39)	T563N	probably damaging	Het
Gria1	A	G	11: 57,108,608 (GRCm39)	D237G	probably damaging	Het
Hspbp1	A	T	7: 4,666,465 (GRCm39)	V305D	probably benign	Het
Hyls1	G	A	9: 35,472,480 (GRCm39)	S312F	probably benign	Het
Iars1	T	C	13: 49,859,307 (GRCm39)	V9A	probably damaging	Het
Ipo4	G	A	14: 55,869,596 (GRCm39)	P355S	probably damaging	Het
Jade2	G	T	11: 51,717,413 (GRCm39)	C314*	probably null	Het
Kri1	T	C	9: 21,186,565 (GRCm39)	E597G	probably benign	Het
Mcub	A	G	3: 129,720,038 (GRCm39)	Y152H	probably damaging	Het
Med23	C	T	10: 24,779,646 (GRCm39)	R542*	probably null	Het
Ndc80	T	C	17: 71,818,483 (GRCm39)	N291S	probably benign	Het
Nop2	T	C	6: 125,110,529 (GRCm39)		probably null	Het
Nrxn1	T	C	17: 90,896,218 (GRCm39)	N984S	probably damaging	Het
Ntm	A	C	9: 28,920,671 (GRCm39)	L86R	probably damaging	Het
Numa1	T	A	7: 101,661,219 (GRCm39)	D1847E	possibly damaging	Het
Odf2l	A	G	3: 144,845,624 (GRCm39)	Q334R	probably damaging	Het
Or10ak11	A	T	4: 118,687,588 (GRCm39)		probably null	Het
Or2ag2	C	T	7: 106,485,134 (GRCm39)	V297I	possibly damaging	Het
Or4a39	T	A	2: 89,237,316 (GRCm39)	T36S	probably damaging	Het
Or5ac17	T	C	16: 59,036,296 (GRCm39)	R227G	probably benign	Het
Or6ae1	A	T	7: 139,742,722 (GRCm39)	V47E	possibly damaging	Het
Or6c203	A	G	10: 129,010,224 (GRCm39)	V222A	probably benign	Het
Pacc1	A	G	1: 191,073,037 (GRCm39)	R153G	probably benign	Het
Pcdhb19	A	T	18: 37,630,776 (GRCm39)	K190N	probably damaging	Het
Pdik1l	A	G	4: 134,006,352 (GRCm39)	F197L	probably damaging	Het
Rnf113a2	T	C	12: 84,464,764 (GRCm39)	F219L	probably damaging	Het
Rnf208	A	C	2: 25,133,776 (GRCm39)	T157P	probably damaging	Het
RP23-145I16.3	A	T	7: 141,930,451 (GRCm39)	C364S	probably damaging	Het
Scn8a	A	T	15: 100,881,865 (GRCm39)	D644V	probably damaging	Het
Thbs3	T	A	3: 89,125,401 (GRCm39)	C204S	probably damaging	Het
Tlr3	A	G	8: 45,851,565 (GRCm39)	I444T	probably damaging	Het
Trpm8	A	T	1: 88,282,191 (GRCm39)	I696F	possibly damaging	Het
Ttn	A	T	2: 76,660,941 (GRCm39)	V7422D	possibly damaging	Het
Ufl1	A	G	4: 25,278,038 (GRCm39)	V139A	probably benign	Het
Uggt2	A	T	14: 119,308,238 (GRCm39)	V381D	probably benign	Het
Vgll3	T	A	16: 65,636,367 (GRCm39)	Y173N	probably damaging	Het
Vmn1r9	A	G	6: 57,048,158 (GRCm39)	T78A	probably benign	Het
Vps13b	T	A	15: 35,472,114 (GRCm39)	L806M	probably damaging	Het
Vps13d	A	C	4: 144,895,079 (GRCm39)	H394Q	probably benign	Het
Wdr53	T	A	16: 32,075,536 (GRCm39)	V247D	probably damaging	Het
Wdr81	A	T	11: 75,338,695 (GRCm39)	L1488Q	probably damaging	Het
Zc3h6	A	G	2: 128,809,732 (GRCm39)	D3G	possibly damaging	Het
Zfp93	G	T	7: 23,975,725 (GRCm39)	C570F	probably damaging	Het
Zfp943	C	T	17: 22,212,357 (GRCm39)	T481I	probably benign	Het

Other mutations in Gatb

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00094:Gatb	APN	3	85,509,227 (GRCm39)	missense	possibly damaging	0.95
IGL00963:Gatb	APN	3	85,526,255 (GRCm39)	missense	probably benign	0.00
IGL01363:Gatb	APN	3	85,559,652 (GRCm39)	missense	probably damaging	1.00
IGL01650:Gatb	APN	3	85,520,791 (GRCm39)	missense	possibly damaging	0.68
IGL01973:Gatb	APN	3	85,518,731 (GRCm39)	missense	probably damaging	1.00
IGL02195:Gatb	APN	3	85,511,755 (GRCm39)	missense	probably benign	0.00
IGL02670:Gatb	APN	3	85,520,858 (GRCm39)	splice site	probably null
IGL02992:Gatb	APN	3	85,526,223 (GRCm39)	missense	probably damaging	1.00
IGL03025:Gatb	APN	3	85,483,181 (GRCm39)	missense	probably damaging	0.99
IGL03035:Gatb	APN	3	85,509,254 (GRCm39)	missense	probably damaging	1.00
IGL03090:Gatb	APN	3	85,526,330 (GRCm39)	intron	probably benign
R1313:Gatb	UTSW	3	85,561,133 (GRCm39)	missense	probably benign	0.01
R1313:Gatb	UTSW	3	85,561,133 (GRCm39)	missense	probably benign	0.01
R1851:Gatb	UTSW	3	85,526,184 (GRCm39)	missense	probably damaging	0.99
R1852:Gatb	UTSW	3	85,526,184 (GRCm39)	missense	probably damaging	0.99
R2134:Gatb	UTSW	3	85,518,677 (GRCm39)	missense	probably damaging	1.00
R2209:Gatb	UTSW	3	85,561,112 (GRCm39)	missense	probably benign	0.03
R5189:Gatb	UTSW	3	85,544,238 (GRCm39)	missense	probably benign	0.00
R5218:Gatb	UTSW	3	85,511,751 (GRCm39)	missense	probably benign
R5857:Gatb	UTSW	3	85,483,239 (GRCm39)	missense	probably damaging	1.00
R5871:Gatb	UTSW	3	85,561,083 (GRCm39)	nonsense	probably null
R6031:Gatb	UTSW	3	85,520,818 (GRCm39)	missense	possibly damaging	0.82
R6430:Gatb	UTSW	3	85,544,345 (GRCm39)	missense	probably benign	0.01
R6661:Gatb	UTSW	3	85,559,726 (GRCm39)	splice site	probably null
R7184:Gatb	UTSW	3	85,544,258 (GRCm39)	nonsense	probably null
R7210:Gatb	UTSW	3	85,481,527 (GRCm39)	missense	probably benign
R7501:Gatb	UTSW	3	85,544,297 (GRCm39)	missense	probably damaging	0.99
R7919:Gatb	UTSW	3	85,511,828 (GRCm39)	missense	probably damaging	1.00
R8335:Gatb	UTSW	3	85,481,628 (GRCm39)	critical splice donor site	probably null
R8536:Gatb	UTSW	3	85,511,868 (GRCm39)	missense	probably damaging	0.99
R8867:Gatb	UTSW	3	85,511,716 (GRCm39)	missense	probably damaging	1.00
R9312:Gatb	UTSW	3	85,561,070 (GRCm39)	missense	probably damaging	1.00
R9330:Gatb	UTSW	3	85,559,801 (GRCm39)	missense	probably benign	0.03
X0013:Gatb	UTSW	3	85,509,168 (GRCm39)	missense	probably damaging	1.00
Z1177:Gatb	UTSW	3	85,544,280 (GRCm39)	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