Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL00094:Gatb'

1783

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Gatb

Ensembl Gene

ENSMUSG00000028085

Gene Name

glutamyl-tRNA amidotransferase subunit B

Synonyms

9430026F02Rik, Pet112, Pet112l

Accession Numbers

Essential gene?

Probably essential (E-score: 0.961) question?

Stock #

IGL00094

Quality Score

Status

Chromosome

Chromosomal Location

85481426-85562929 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 85509227 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Leucine at position 130 (I130L)

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

possibly damaging
Transcript: ENSMUST00000107672
AA Change: I130L

PolyPhen 2 Score 0.948 (Sensitivity: 0.79; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000103299
Gene: ENSMUSG00000028085
AA Change: I130L

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: I130L

PolyPhen 2 Score 0.948 (Sensitivity: 0.79; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000103301
Gene: ENSMUSG00000028085
AA Change: I130L

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: I130L

PolyPhen 2 Score 0.948 (Sensitivity: 0.79; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000119949
Gene: ENSMUSG00000028085
AA Change: I130L

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: 61 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aacs	T	A	5: 125,591,254 (GRCm39)	N547K	probably benign	Het
Abca13	A	G	11: 9,247,443 (GRCm39)	T2397A	probably benign	Het
Abcc1	A	G	16: 14,288,398 (GRCm39)	N1341S	probably null	Het
Adcy9	T	A	16: 4,122,446 (GRCm39)	I535L	probably benign	Het
Akap6	A	G	12: 53,187,763 (GRCm39)	S1726G	possibly damaging	Het
Ap3d1	T	C	10: 80,577,813 (GRCm39)	M5V	probably benign	Het
Ash1l	T	A	3: 88,889,019 (GRCm39)	N299K	probably benign	Het
B3gnt2	C	T	11: 22,786,151 (GRCm39)	V346I	probably benign	Het
Ceacam14	G	A	7: 17,548,062 (GRCm39)	V51I	probably damaging	Het
Cfap69	T	C	5: 5,634,682 (GRCm39)	D812G	probably damaging	Het
Cfap97d1	A	G	11: 101,881,646 (GRCm39)	E114G	possibly damaging	Het
Chrna9	T	C	5: 66,126,600 (GRCm39)	V118A	probably benign	Het
Cpsf7	A	G	19: 10,517,151 (GRCm39)	R418G	probably damaging	Het
Csnk1g3	T	C	18: 54,052,075 (GRCm39)	Y215H	probably damaging	Het
Dcaf5	A	C	12: 80,386,097 (GRCm39)	N676K	probably benign	Het
Dld	A	T	12: 31,385,576 (GRCm39)	M255K	probably benign	Het
Esr2	A	T	12: 76,180,670 (GRCm39)	L417H	probably damaging	Het
Fsip2	T	A	2: 82,820,730 (GRCm39)	S5488T	probably benign	Het
Gbp9	T	C	5: 105,229,130 (GRCm39)	K506E	probably benign	Het
Hkdc1	T	C	10: 62,229,568 (GRCm39)	N703S	probably damaging	Het
Itgb3	T	A	11: 104,524,410 (GRCm39)	V182E	probably damaging	Het
Itih4	A	T	14: 30,617,426 (GRCm39)	Y582F	probably damaging	Het
Lancl2	T	A	6: 57,701,522 (GRCm39)		probably benign	Het
Lgals3	A	G	14: 47,622,175 (GRCm39)	K197R	probably benign	Het
Lipe	T	C	7: 25,082,977 (GRCm39)	T767A	probably damaging	Het
Lrp2	T	A	2: 69,338,123 (GRCm39)	D1219V	probably damaging	Het
Lrriq3	T	A	3: 154,806,698 (GRCm39)	C116S	probably benign	Het
Mcm5	T	G	8: 75,851,573 (GRCm39)		probably null	Het
Mtpn	G	T	6: 35,499,711 (GRCm39)	T31K	probably damaging	Het
Mycbp2	A	T	14: 103,460,486 (GRCm39)	Y1494N	probably damaging	Het
Nbeal1	G	T	1: 60,274,350 (GRCm39)	E498*	probably null	Het
Nos1	T	G	5: 118,048,165 (GRCm39)	S657A	probably damaging	Het
Nr3c1	A	T	18: 39,561,661 (GRCm39)		probably null	Het
Or12e7	T	A	2: 87,288,271 (GRCm39)	V254E	probably damaging	Het
Or13a17	A	T	7: 140,271,349 (GRCm39)	H177L	probably damaging	Het
Or4c127	T	A	2: 89,833,365 (GRCm39)	I205N	possibly damaging	Het
Or7g32	T	A	9: 19,408,155 (GRCm39)	I37N	probably damaging	Het
Or8g20	T	C	9: 39,395,944 (GRCm39)	I202V	probably benign	Het
Or8s8	T	G	15: 98,354,299 (GRCm39)	V36G	possibly damaging	Het
Or9i1	A	T	19: 13,839,150 (GRCm39)		probably benign	Het
Osbp2	T	G	11: 3,661,848 (GRCm39)	S735R	probably benign	Het
Otop3	A	T	11: 115,235,279 (GRCm39)	T304S	probably benign	Het
Pcdhac2	A	T	18: 37,278,128 (GRCm39)	L369F	probably damaging	Het
Pick1	T	C	15: 79,131,457 (GRCm39)		probably benign	Het
Prlhr	A	T	19: 60,456,119 (GRCm39)	V149E	probably damaging	Het
Prss12	G	A	3: 123,280,598 (GRCm39)		probably benign	Het
Rab19	A	T	6: 39,365,132 (GRCm39)		probably benign	Het
Ralgapb	T	C	2: 158,262,776 (GRCm39)	W5R	probably damaging	Het
Rfx4	T	A	10: 84,676,063 (GRCm39)	L44Q	probably damaging	Het
Scube2	T	C	7: 109,407,661 (GRCm39)	T760A	probably damaging	Het
Shcbp1	A	C	8: 4,804,258 (GRCm39)	Y145*	probably null	Het
Snx31	T	A	15: 36,545,761 (GRCm39)		probably null	Het
Spopl	A	T	2: 23,427,643 (GRCm39)	V163E	possibly damaging	Het
Sqor	T	C	2: 122,629,463 (GRCm39)	I107T	probably damaging	Het
Tcte1	T	C	17: 45,845,854 (GRCm39)	F153L	probably damaging	Het
Tnfrsf11b	T	A	15: 54,123,238 (GRCm39)	H121L	probably damaging	Het
Tnip1	G	T	11: 54,831,643 (GRCm39)	Y10*	probably null	Het
Tnxb	G	T	17: 34,904,603 (GRCm39)	G1123C	probably damaging	Het
Wdr62	T	C	7: 29,942,948 (GRCm39)	E515G	probably benign	Het
Zfand1	A	T	3: 10,413,590 (GRCm39)	D32E	probably null	Het
Zfp112	A	C	7: 23,821,668 (GRCm39)	T3P	probably damaging	Het

Other mutations in Gatb

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
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
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

Posted On

2011-07-12