Mutagenetix > Incidental Mutation

Incidental Mutation 'R7197:Tat'

560021

Institutional Source

Beutler Lab

Gene Symbol

Tat

Ensembl Gene

ENSMUSG00000001670

Gene Name

tyrosine aminotransferase

Synonyms

MMRRC Submission

045276-MU

Accession Numbers

Essential gene?

Possibly non essential (E-score: 0.339) question?

Stock #

R7197 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

110717069-110726435 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 110723459 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Phenylalanine at position 316 (I316F)

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: I316F

PolyPhen 2 Score 0.085 (Sensitivity: 0.93; Specificity: 0.85)

SMART Domains

Protein: ENSMUSP00000001720
Gene: ENSMUSG00000001670
AA Change: I316F

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

Meta Mutation Damage Score

0.2648

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.8%
20x: 99.3%

Validation Efficiency

97% (77/79)

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: 77 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700017B05Rik	AGCTTCCCTGCTT	AGCTT	9: 57,165,505 (GRCm39)		probably null	Het
Aars2	T	C	17: 45,819,885 (GRCm39)	Y221H	probably damaging	Het
Abca8b	G	A	11: 109,836,648 (GRCm39)	R1216*	probably null	Het
Acad8	A	T	9: 26,888,967 (GRCm39)		probably null	Het
Acer2	A	G	4: 86,805,287 (GRCm39)	T84A	probably null	Het
Adgrb2	A	G	4: 129,903,315 (GRCm39)	N613S	probably damaging	Het
Arap2	T	C	5: 62,798,729 (GRCm39)	D1300G	possibly damaging	Het
Castor1	T	C	11: 4,168,949 (GRCm39)	C39R	probably damaging	Het
Ccl11	A	T	11: 81,948,665 (GRCm39)		probably benign	Het
Cfh	A	T	1: 140,016,505 (GRCm39)	Y1151*	probably null	Het
Cobll1	A	G	2: 64,928,882 (GRCm39)	S815P	probably benign	Het
Cryz	T	C	3: 154,327,205 (GRCm39)	S240P	probably damaging	Het
Csmd2	A	G	4: 128,404,826 (GRCm39)	Y2404C		Het
F13a1	T	C	13: 37,100,860 (GRCm39)	D428G	probably damaging	Het
Fbxo42	A	G	4: 140,927,396 (GRCm39)	S559G	probably benign	Het
Fry	A	G	5: 150,393,232 (GRCm39)	S263G		Het
Fshr	C	T	17: 89,292,897 (GRCm39)	A594T	probably damaging	Het
Gm1527	A	G	3: 28,980,690 (GRCm39)	M597V	probably null	Het
Gpr158	A	T	2: 21,815,412 (GRCm39)	T602S	probably damaging	Het
Hmgxb4	C	A	8: 75,756,624 (GRCm39)	T583K	probably damaging	Het
Igkv8-30	C	T	6: 70,094,069 (GRCm39)	C114Y	probably damaging	Het
Igsf5	T	A	16: 96,204,546 (GRCm39)	N366K	probably damaging	Het
Kif15	T	C	9: 122,838,991 (GRCm39)		probably null	Het
Klk1b26	T	A	7: 43,665,821 (GRCm39)		probably null	Het
Lama1	G	T	17: 68,044,700 (GRCm39)	E200*	probably null	Het
Lpar5	C	T	6: 125,059,347 (GRCm39)	T356I	probably benign	Het
Lrch3	A	T	16: 32,810,665 (GRCm39)	T538S	probably damaging	Het
Mansc4	A	G	6: 146,977,203 (GRCm39)	S138P	probably damaging	Het
Mief1	T	C	15: 80,134,061 (GRCm39)	S373P	possibly damaging	Het
Nbas	G	T	12: 13,570,751 (GRCm39)	V2053F	possibly damaging	Het
Nek11	T	C	9: 105,121,614 (GRCm39)	E435G	probably damaging	Het
Nynrin	A	T	14: 56,109,380 (GRCm39)	I1496F	probably benign	Het
Odf1	A	T	15: 38,219,794 (GRCm39)	M41L	probably benign	Het
Or10a5	A	G	7: 106,635,364 (GRCm39)	M8V	probably benign	Het
Or4c115	A	G	2: 88,927,626 (GRCm39)	V215A	probably benign	Het
Or4c29	A	T	2: 88,740,708 (GRCm39)	F10I	probably benign	Het
Or7h8	T	G	9: 20,123,851 (GRCm39)	S69A	probably benign	Het
Oxnad1	T	C	14: 31,818,473 (GRCm39)	V106A	possibly damaging	Het
Padi4	C	A	4: 140,488,969 (GRCm39)	E157*	probably null	Het
Parp10	A	T	15: 76,126,616 (GRCm39)	F217L	probably damaging	Het
Pcdhb18	T	A	18: 37,623,436 (GRCm39)	S255R	probably benign	Het
Pde4c	G	T	8: 71,197,978 (GRCm39)	G102W	probably damaging	Het
Pde6a	T	C	18: 61,391,295 (GRCm39)	Y547H	probably damaging	Het
Phf11b	A	T	14: 59,563,507 (GRCm39)	L137I	probably benign	Het
Pigh	A	C	12: 79,130,463 (GRCm39)	I134S	probably damaging	Het
Pigt	G	A	2: 164,344,436 (GRCm39)	V362M	probably damaging	Het
Pld1	A	G	3: 28,078,401 (GRCm39)	D20G	probably damaging	Het
Pou3f2	T	C	4: 22,487,288 (GRCm39)	R282G	probably damaging	Het
Ppp2r5d	A	G	17: 46,996,527 (GRCm39)	V382A	probably damaging	Het
Prdm16	T	C	4: 154,425,967 (GRCm39)	E606G	probably damaging	Het
Psg28	A	G	7: 18,164,509 (GRCm39)	Y68H	probably damaging	Het
Qpctl	C	A	7: 18,882,944 (GRCm39)	W56L	probably damaging	Het
Rab11fip5	G	A	6: 85,319,137 (GRCm39)	P584L	probably damaging	Het
Sde2	C	T	1: 180,678,843 (GRCm39)	H36Y	probably benign	Het
Sema4d	T	C	13: 51,856,872 (GRCm39)	S787G	probably benign	Het
Sgca	C	T	11: 94,864,014 (GRCm39)		probably null	Het
Shroom3	A	G	5: 93,090,463 (GRCm39)	E1071G	probably damaging	Het
Skint5	A	G	4: 113,437,679 (GRCm39)		probably null	Het
Slc44a3	T	A	3: 121,319,411 (GRCm39)	D110V	probably benign	Het
Slc4a4	A	C	5: 89,082,433 (GRCm39)		probably benign	Het
Slc4a8	A	G	15: 100,688,857 (GRCm39)	D389G	probably damaging	Het
Sp3	C	G	2: 72,809,953 (GRCm39)	E11Q	probably benign	Het
Srrm2	A	G	17: 24,037,198 (GRCm39)	S1281G	unknown	Het
Thoc5	A	G	11: 4,865,563 (GRCm39)	T381A	probably benign	Het
Tiam1	T	C	16: 89,681,826 (GRCm39)	Y384C	probably damaging	Het
Tmem45a	A	T	16: 56,632,026 (GRCm39)	F197L	probably damaging	Het
Trav8d-1	A	G	14: 53,016,435 (GRCm39)	Y107C	probably damaging	Het
Trim10	T	A	17: 37,187,846 (GRCm39)	V354D	probably damaging	Het
Unc45b	A	T	11: 82,831,013 (GRCm39)		probably null	Het
Unc79	A	G	12: 103,078,765 (GRCm39)	I1643M	probably benign	Het
Unc80	G	T	1: 66,560,725 (GRCm39)	G818*	probably null	Het
Usp15	A	T	10: 122,966,910 (GRCm39)	M470K	possibly damaging	Het
Vldlr	T	C	19: 27,212,241 (GRCm39)	V85A	probably benign	Het
Vma21-ps	A	G	4: 52,496,994 (GRCm39)	V84A	probably benign	Het
Vmn2r67	C	T	7: 84,785,774 (GRCm39)	V744I	possibly damaging	Het
Wdr73	A	G	7: 80,542,946 (GRCm39)	C221R	probably benign	Het
Zxdc	C	T	6: 90,355,819 (GRCm39)	H443Y	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
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
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'- ACCTGCCTCCAATTTCAAGG -3'
(R):5'- AAGGGCTATTGTTCCTAATTCTGC -3'

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

Posted On

2019-06-26