Mutagenetix > Incidental Mutation

Incidental Mutation 'R5149:Tat'

395252

Institutional Source

Beutler Lab

Gene Symbol

Tat

Ensembl Gene

ENSMUSG00000001670

Gene Name

tyrosine aminotransferase

Synonyms

MMRRC Submission

042732-MU

Accession Numbers

Essential gene?

Possibly non essential (E-score: 0.430) question?

Stock #

R5149 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

110717069-110726435 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 110723450 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Glycine at position 313 (S313G)

Ref Sequence

ENSEMBL: ENSMUSP00000001720 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000001720] [ENSMUST00000143741]

AlphaFold

Q8QZR1

PDB Structure

Crystal structural of mouse tyrosine aminotransferase [X-RAY DIFFRACTION]

Predicted Effect

probably benign
Transcript: ENSMUST00000001720
AA Change: S313G

PolyPhen 2 Score 0.349 (Sensitivity: 0.90; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000001720
Gene: ENSMUSG00000001670
AA Change: S313G

Domain	Start	End	E-Value	Type
Pfam:TAT_ubiq	1	40	2.2e-22	PFAM
Pfam:Aminotran_1_2	71	434	9.9e-80	PFAM
Pfam:Beta_elim_lyase	72	248	8.2e-6	PFAM
Pfam:Aminotran_5	111	247	7.6e-8	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000143741

SMART Domains

Protein: ENSMUSP00000119061
Gene: ENSMUSG00000001670

Domain	Start	End	E-Value	Type
Pfam:TAT_ubiq	1	40	2.4e-23	PFAM
Pfam:Aminotran_1_2	71	233	1.8e-41	PFAM
Pfam:Beta_elim_lyase	86	233	1.9e-7	PFAM
Pfam:DegT_DnrJ_EryC1	89	222	1.2e-7	PFAM
Pfam:Aminotran_5	93	233	1.2e-8	PFAM

Coding Region Coverage

1x: 99.2%
3x: 98.5%
10x: 96.9%
20x: 94.3%

Validation Efficiency

MGI Phenotype

FUNCTION: This gene encodes a liver-specific mitochondrial enzyme that catalyzes the conversion of L-tyrosine into p-hydroxyphenylpyruvate. Regulated by glucocorticoid and polypeptide hormones, this gene's expression is affected by deletion of a regulatory region near the albino locus on chromosome 7. Mutations in this gene cause tyrosinemia type II in humans. [provided by RefSeq, Mar 2010]

Allele List at MGI

Other mutations in this stock

Total: 44 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Ahsg	A	G	16: 22,717,673 (GRCm39)	T245A	probably benign	Het
Akr1c13	G	T	13: 4,244,168 (GRCm39)	V74L	probably benign	Het
Amt	G	A	9: 108,178,650 (GRCm39)	V389I	possibly damaging	Het
Ankrd26	T	C	6: 118,535,957 (GRCm39)	N159S	probably benign	Het
Atp1a4	A	G	1: 172,059,572 (GRCm39)	I840T	probably damaging	Het
Capn1	T	C	19: 6,040,364 (GRCm39)		probably null	Het
Col27a1	T	C	4: 63,249,664 (GRCm39)		probably benign	Het
Cyp2j5	A	G	4: 96,547,744 (GRCm39)	L166P	probably damaging	Het
D6Ertd527e	C	G	6: 87,088,506 (GRCm39)	T223S	unknown	Het
Dchs1	G	A	7: 105,404,865 (GRCm39)	T2559I	probably damaging	Het
Dnah12	C	A	14: 26,572,883 (GRCm39)	S258*	probably null	Het
Dpep1	A	T	8: 123,927,177 (GRCm39)	T309S	probably benign	Het
Epha5	A	T	5: 84,298,217 (GRCm39)	F559L	probably damaging	Het
Gm3409	T	C	5: 146,474,571 (GRCm39)	I29T	possibly damaging	Het
Grhl1	CAGAAGAAG	CAGAAG	12: 24,662,178 (GRCm39)		probably benign	Het
Gtf3c1	G	T	7: 125,267,209 (GRCm39)	R941S	probably damaging	Het
Helb	C	T	10: 119,941,648 (GRCm39)	E347K	probably benign	Het
Ighv14-3	A	G	12: 114,023,710 (GRCm39)	S36P	probably damaging	Het
Klrb1c	T	A	6: 128,760,670 (GRCm39)	M211L	probably benign	Het
Larp7	C	T	3: 127,334,460 (GRCm39)	E510K	probably damaging	Het
Lrig1	C	T	6: 94,605,025 (GRCm39)	R190Q	possibly damaging	Het
Marchf6	A	G	15: 31,462,140 (GRCm39)	S863P	possibly damaging	Het
Mgst2	A	G	3: 51,589,958 (GRCm39)	N132S	probably benign	Het
Nlgn2	C	T	11: 69,716,216 (GRCm39)	R775H	probably damaging	Het
Or2n1c	A	C	17: 38,519,208 (GRCm39)	E24A	possibly damaging	Het
Or5w15	A	T	2: 87,567,749 (GRCm39)	S306R	probably benign	Het
Or6c6c	T	C	10: 129,541,377 (GRCm39)	V210A	probably benign	Het
Papln	A	T	12: 83,818,656 (GRCm39)		probably null	Het
Poteg	C	T	8: 27,971,671 (GRCm39)	S395L	possibly damaging	Het
Prox1	T	A	1: 189,879,250 (GRCm39)	I643F	possibly damaging	Het
Septin4	A	G	11: 87,480,071 (GRCm39)	E211G	probably damaging	Het
Serpinb6e	A	G	13: 34,016,468 (GRCm39)	F422L	probably damaging	Het
Slc22a19	A	G	19: 7,688,503 (GRCm39)	L19P	probably damaging	Het
Snf8	G	T	11: 95,934,286 (GRCm39)	A136S	probably benign	Het
Sparcl1	C	T	5: 104,233,629 (GRCm39)	M573I	probably damaging	Het
Spta1	A	G	1: 174,075,000 (GRCm39)	T2409A	probably damaging	Het
Tep1	A	T	14: 51,074,855 (GRCm39)	C1785*	probably null	Het
Tmem132b	A	G	5: 125,699,989 (GRCm39)	S176G	probably damaging	Het
Tnfrsf8	T	C	4: 145,029,675 (GRCm39)	R42G	possibly damaging	Het
Trio	T	C	15: 27,754,115 (GRCm39)	D2124G	possibly damaging	Het
Trp53bp1	A	T	2: 121,046,598 (GRCm39)	D1067E	probably benign	Het
Tspan13	T	C	12: 36,074,065 (GRCm39)	S24G	probably damaging	Het
Zdbf2	T	C	1: 63,344,062 (GRCm39)	S814P	possibly damaging	Het
Zfp213	C	A	17: 23,780,373 (GRCm39)	R49L	probably damaging	Het

Other mutations in Tat

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00555:Tat	APN	8	110,725,417 (GRCm39)	missense	probably benign	0.38
IGL02686:Tat	APN	8	110,723,481 (GRCm39)	missense	probably damaging	1.00
IGL03217:Tat	APN	8	110,721,818 (GRCm39)	missense	probably benign
R0494:Tat	UTSW	8	110,718,316 (GRCm39)	missense	probably damaging	1.00
R0581:Tat	UTSW	8	110,718,270 (GRCm39)	missense	possibly damaging	0.96
R1473:Tat	UTSW	8	110,723,550 (GRCm39)	missense	probably damaging	1.00
R1474:Tat	UTSW	8	110,718,195 (GRCm39)	missense	probably benign	0.00
R1749:Tat	UTSW	8	110,722,846 (GRCm39)	missense	probably damaging	0.97
R1791:Tat	UTSW	8	110,718,261 (GRCm39)	missense	probably benign	0.17
R2157:Tat	UTSW	8	110,724,236 (GRCm39)	missense	probably damaging	1.00
R4530:Tat	UTSW	8	110,722,842 (GRCm39)	missense	probably benign	0.05
R5256:Tat	UTSW	8	110,724,966 (GRCm39)	missense	probably benign	0.44
R5873:Tat	UTSW	8	110,718,581 (GRCm39)	critical splice donor site	probably null
R7197:Tat	UTSW	8	110,723,459 (GRCm39)	missense	probably benign	0.09
R7397:Tat	UTSW	8	110,724,200 (GRCm39)	missense	probably damaging	1.00
R7742:Tat	UTSW	8	110,718,242 (GRCm39)	missense	probably benign	0.00
R8950:Tat	UTSW	8	110,718,337 (GRCm39)	missense	probably damaging	1.00
R9213:Tat	UTSW	8	110,722,820 (GRCm39)	missense	probably damaging	0.99
R9302:Tat	UTSW	8	110,725,031 (GRCm39)	unclassified	probably benign
R9329:Tat	UTSW	8	110,723,510 (GRCm39)	missense	probably benign	0.00
R9436:Tat	UTSW	8	110,718,492 (GRCm39)	missense	probably damaging	1.00
R9441:Tat	UTSW	8	110,720,547 (GRCm39)	missense	probably damaging	1.00
R9536:Tat	UTSW	8	110,722,711 (GRCm39)	missense	probably benign

Predicted Primers

PCR Primer
(F):5'- CACCTGCCTCCAATTTCAAGG -3'
(R):5'- GGGCTATTGTTCCTAATTCTGC -3'

Sequencing Primer
(F):5'- GTGCAGAGAAGTTACATCATCTGCC -3'
(R):5'- GCTATTGTTCCTAATTCTGCTGATG -3'

Posted On

2016-06-21