Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02686:Tat'

303586

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Tat

Ensembl Gene

ENSMUSG00000001670

Gene Name

tyrosine aminotransferase

Synonyms

Accession Numbers

Essential gene?

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

Stock #

IGL02686

Quality Score

Status

Chromosome

Chromosomal Location

110717069-110726435 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 110723481 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 323 (V323A)

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 damaging
Transcript: ENSMUST00000001720
AA Change: V323A

PolyPhen 2 Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000001720
Gene: ENSMUSG00000001670
AA Change: V323A

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

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: 45 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adam4	C	T	12: 81,468,448 (GRCm39)	G58S	possibly damaging	Het
Adcyap1r1	G	A	6: 55,458,110 (GRCm39)	A304T	probably benign	Het
Adipoq	A	G	16: 22,975,865 (GRCm39)	T110A	possibly damaging	Het
Ago2	T	C	15: 72,985,591 (GRCm39)	Y668C	possibly damaging	Het
Ampd2	A	T	3: 107,983,811 (GRCm39)	D575E	possibly damaging	Het
Anxa5	C	T	3: 36,503,504 (GRCm39)	E317K	probably benign	Het
Atf2	A	T	2: 73,675,844 (GRCm39)	M169K	possibly damaging	Het
Bicc1	C	A	10: 70,779,190 (GRCm39)		probably benign	Het
Bicra	A	G	7: 15,721,840 (GRCm39)	M559T	probably benign	Het
Bltp3a	T	C	17: 28,113,563 (GRCm39)	I1245T	probably benign	Het
Bltp3b	A	T	10: 89,641,055 (GRCm39)	Q742L	probably benign	Het
Cacna1e	G	A	1: 154,369,155 (GRCm39)	A294V	probably damaging	Het
Cacna1h	G	A	17: 25,604,723 (GRCm39)	P1197S	possibly damaging	Het
Cmya5	G	A	13: 93,227,505 (GRCm39)	Q2528*	probably null	Het
Csgalnact1	C	A	8: 68,854,144 (GRCm39)	G219V	probably damaging	Het
Cts8	T	C	13: 61,398,784 (GRCm39)	T241A	probably benign	Het
Cubn	T	C	2: 13,330,037 (GRCm39)	I2615V	possibly damaging	Het
Cxcl12	A	G	6: 117,150,546 (GRCm39)		probably benign	Het
Fig4	T	C	10: 41,140,000 (GRCm39)	D307G	probably damaging	Het
Flt1	T	C	5: 147,525,412 (GRCm39)	I909V	probably damaging	Het
Foxk1	T	A	5: 142,439,340 (GRCm39)	S427T	probably damaging	Het
Gosr1	G	A	11: 76,641,688 (GRCm39)	T130M	probably benign	Het
Grik1	G	T	16: 87,806,649 (GRCm39)		probably null	Het
Hipk1	C	T	3: 103,685,333 (GRCm39)	S94N	possibly damaging	Het
Ints7	T	C	1: 191,318,704 (GRCm39)	L147P	probably damaging	Het
Nsd3	A	G	8: 26,156,086 (GRCm39)	D551G	probably damaging	Het
Or11g25	G	A	14: 50,723,426 (GRCm39)	M170I	probably benign	Het
Or5p81	A	T	7: 108,267,093 (GRCm39)	I157F	probably benign	Het
Prrc2c	T	C	1: 162,535,516 (GRCm39)		probably benign	Het
Ren1	A	T	1: 133,286,207 (GRCm39)	N250I	possibly damaging	Het
Ripply2	A	C	9: 86,898,009 (GRCm39)		probably benign	Het
Ryr1	G	T	7: 28,768,975 (GRCm39)		probably benign	Het
Smad3	T	A	9: 63,575,064 (GRCm39)	K51M	probably damaging	Het
Snapc1	C	A	12: 74,011,370 (GRCm39)		probably benign	Het
Srfbp1	T	G	18: 52,608,726 (GRCm39)	V42G	probably damaging	Het
Srrm1	G	A	4: 135,052,415 (GRCm39)	P658L	unknown	Het
Tab1	T	C	15: 80,033,031 (GRCm39)	V105A	probably benign	Het
Tdo2	T	C	3: 81,875,462 (GRCm39)	N164S	probably benign	Het
Tefm	T	A	11: 80,027,722 (GRCm39)	L345F	probably damaging	Het
Tmem145	C	A	7: 25,014,150 (GRCm39)	N407K	probably damaging	Het
Vmn2r116	A	G	17: 23,607,767 (GRCm39)	N445S	probably damaging	Het
Vmn2r20	A	G	6: 123,362,585 (GRCm39)	M733T	probably benign	Het
Vmn2r93	G	A	17: 18,533,526 (GRCm39)	V477M	possibly damaging	Het
Zdhhc4	A	G	5: 143,306,146 (GRCm39)	F194S	probably damaging	Het
Zfp738	A	T	13: 67,821,771 (GRCm39)	S25T	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
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
R5149:Tat	UTSW	8	110,723,450 (GRCm39)	missense	probably benign	0.35
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

Posted On

2015-04-16