Mutagenetix > Incidental Mutation

Incidental Mutation 'R8950:Tat'

681575

Institutional Source

Beutler Lab

Gene Symbol

Tat

Ensembl Gene

ENSMUSG00000001670

Gene Name

tyrosine aminotransferase

Synonyms

Accession Numbers

Essential gene?

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

Stock #

R8950 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

110717069-110726435 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 110718337 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Asparagine at position 74 (I74N)

Ref Sequence

ENSEMBL: ENSMUSP00000119061 (fasta)

Gene Model

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

AlphaFold

Q8QZR1

Predicted Effect

probably damaging
Transcript: ENSMUST00000001720
AA Change: I74N

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000001720
Gene: ENSMUSG00000001670
AA Change: I74N

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 damaging
Transcript: ENSMUST00000143741
AA Change: I74N

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000119061
Gene: ENSMUSG00000001670
AA Change: I74N

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: 100.0%
3x: 100.0%
10x: 99.8%
20x: 99.4%

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: 68 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca14	T	C	7: 119,823,595 (GRCm39)	F374S	possibly damaging	Het
Abca14	T	A	7: 119,823,644 (GRCm39)	Y390*	probably null	Het
Abca9	T	C	11: 110,054,206 (GRCm39)		probably null	Het
Anxa1	G	T	19: 20,352,662 (GRCm39)	S304*	probably null	Het
Aspm	G	A	1: 139,406,690 (GRCm39)	R1859Q	probably damaging	Het
Atp13a5	A	T	16: 29,197,314 (GRCm39)	N14K	probably damaging	Het
Bmpr1a	G	T	14: 34,163,148 (GRCm39)	H81N	possibly damaging	Het
Camkv	C	T	9: 107,824,296 (GRCm39)	T236I	probably damaging	Het
Carm1	T	A	9: 21,490,789 (GRCm39)	M219K	probably damaging	Het
Ccdc162	T	C	10: 41,474,507 (GRCm39)	R1352G	probably benign	Het
Cd200l1	A	T	16: 45,263,007 (GRCm39)	V44D	possibly damaging	Het
Cib1	A	G	7: 79,878,211 (GRCm39)	L89P	probably damaging	Het
Col6a5	C	T	9: 105,822,833 (GRCm39)	E175K	unknown	Het
Crebbp	A	G	16: 4,031,023 (GRCm39)	F22S	probably damaging	Het
Csf2rb	A	T	15: 78,232,520 (GRCm39)	D609V	probably benign	Het
Csn1s1	T	C	5: 87,824,482 (GRCm39)		probably null	Het
Dchs1	A	T	7: 105,408,212 (GRCm39)	H1873Q	probably benign	Het
Dnah1	T	C	14: 31,012,396 (GRCm39)	D1901G	probably damaging	Het
Dock10	G	T	1: 80,519,016 (GRCm39)	T1235N	probably benign	Het
Eddm3b	T	A	14: 51,354,110 (GRCm39)	S33T	probably damaging	Het
Fam151b	A	T	13: 92,610,567 (GRCm39)	M74K	probably damaging	Het
Fat1	T	A	8: 45,476,158 (GRCm39)	F1735I	probably damaging	Het
Fcgbpl1	A	G	7: 27,863,751 (GRCm39)	R2508G	probably benign	Het
Fip1l1	T	G	5: 74,756,524 (GRCm39)	S505R	probably damaging	Het
Gm21886	ACTCACTGAGGCCTGCAGACAGTAGGTGCTCACTGAGGCCTGCAGACAGTAGGTGCTCACTGAGGCCTGCAGACAGTAGGTGCTCACTGAGACCTGCAGACAGTAGGTGCTCACTGAGACCTGCAGACAGTAGGTGCTCACTGAGG	ACTCACTGAGGCCTGCAGACAGTAGGTGCTCACTGAGGCCTGCAGACAGTAGGTGCTCACTGAGACCTGCAGACAGTAGGTGCTCACTGAGACCTGCAGACAGTAGGTGCTCACTGAGG	18: 80,133,040 (GRCm39)		probably benign	Het
Gpr180	A	G	14: 118,395,452 (GRCm39)	I295V	probably benign	Het
Gtf3c2	G	A	5: 31,331,151 (GRCm39)	T175I	probably damaging	Het
Hmcn2	T	C	2: 31,244,741 (GRCm39)	Y733H	probably damaging	Het
Irs1	T	A	1: 82,264,652 (GRCm39)	Q1188L	probably benign	Het
Kcnk5	T	C	14: 20,192,046 (GRCm39)	R372G	probably benign	Het
Kdm5b	T	A	1: 134,541,664 (GRCm39)	N746K	possibly damaging	Het
Kdm7a	T	C	6: 39,123,903 (GRCm39)	I754V	probably benign	Het
Mad2l1bp	G	A	17: 46,458,891 (GRCm39)	T213I	possibly damaging	Het
Map2	G	T	1: 66,419,684 (GRCm39)	R5L	probably damaging	Het
Map4	G	A	9: 109,901,702 (GRCm39)	V781M	possibly damaging	Het
Mbd2	A	G	18: 70,713,864 (GRCm39)	D231G	probably damaging	Het
Negr1	C	A	3: 156,721,906 (GRCm39)	P160Q	probably damaging	Het
Nfya	A	T	17: 48,700,489 (GRCm39)		probably benign	Het
Nlk	T	C	11: 78,586,758 (GRCm39)	Q112R	probably benign	Het
Obscn	C	A	11: 58,947,009 (GRCm39)	A4339S	probably damaging	Het
Or3a10	A	G	11: 73,935,782 (GRCm39)	F106S	possibly damaging	Het
Or5b99	A	T	19: 12,976,445 (GRCm39)	I32F	probably damaging	Het
Pcdhb12	A	G	18: 37,570,590 (GRCm39)	T579A	probably benign	Het
Pcdhb2	G	A	18: 37,429,715 (GRCm39)	V563M	probably damaging	Het
Peg10	GC	GCTCC	6: 4,756,452 (GRCm39)		probably benign	Het
Piezo1	T	C	8: 123,208,729 (GRCm39)	R2545G	probably benign	Het
Plcb1	A	G	2: 135,179,439 (GRCm39)	N616D	probably damaging	Het
Pogk	A	T	1: 166,226,394 (GRCm39)	F586I	probably damaging	Het
Polr1f	T	A	12: 33,483,526 (GRCm39)	Y93N	probably damaging	Het
Prkg2	T	A	5: 99,119,815 (GRCm39)	I435F	possibly damaging	Het
Prrt4	T	C	6: 29,177,665 (GRCm39)	T35A	probably damaging	Het
Rad17	A	G	13: 100,767,576 (GRCm39)	S342P	probably damaging	Het
Rpl36-ps4	A	G	17: 88,228,574 (GRCm39)	T40A	probably damaging	Het
Skint5	T	C	4: 113,374,349 (GRCm39)	T1247A	unknown	Het
Slc22a14	A	G	9: 118,998,778 (GRCm39)	L182P	possibly damaging	Het
Slc35b3	T	C	13: 39,138,097 (GRCm39)	D104G	probably damaging	Het
Sult2a1	A	G	7: 13,530,342 (GRCm39)	F266L	probably damaging	Het
Sult2a2	A	T	7: 13,467,484 (GRCm39)	M1L	probably damaging	Het
Trappc6a	G	T	7: 19,249,923 (GRCm39)		probably benign	Het
Usp44	A	G	10: 93,682,129 (GRCm39)	E193G	possibly damaging	Het
Virma	C	T	4: 11,519,047 (GRCm39)	Q765*	probably null	Het
Vmn1r46	T	C	6: 89,954,053 (GRCm39)	S301P	probably damaging	Het
Vmn2r116	A	T	17: 23,620,467 (GRCm39)	I734F	probably damaging	Het
Vmn2r5	A	T	3: 64,398,522 (GRCm39)	V819D	probably damaging	Het
Vmn2r74	A	G	7: 85,606,569 (GRCm39)	I259T	probably damaging	Het
Vps13a	A	G	19: 16,723,340 (GRCm39)	I286T	probably damaging	Het
Wdr73	T	C	7: 80,550,131 (GRCm39)	I55V	probably benign	Het
Znhit2	A	T	19: 6,111,803 (GRCm39)	R183*	probably null	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
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
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'- ACCTTCAGTGCTGGATGTTCG -3'
(R):5'- TTGTACTTCCCGGAGTCCAG -3'

Sequencing Primer
(F):5'- ATGTTCGCGTCAATATTGGC -3'
(R):5'- AGTCCAGGGCATCCTTCATG -3'

Posted On

2021-08-31