Mutagenetix > Incidental Mutation

Incidental Mutation 'R7742:Tat'

596609

Institutional Source

Beutler Lab

Gene Symbol

Tat

Ensembl Gene

ENSMUSG00000001670

Gene Name

tyrosine aminotransferase

Synonyms

MMRRC Submission

045798-MU

Accession Numbers

Essential gene?

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

Stock #

R7742 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

110717069-110726435 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 110718242 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Lysine at position 42 (N42K)

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: N42K

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000001720
Gene: ENSMUSG00000001670
AA Change: N42K

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
AA Change: N42K

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000119061
Gene: ENSMUSG00000001670
AA Change: N42K

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: 99.7%
20x: 99.2%

Validation Efficiency

100% (53/53)

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: 53 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
3425401B19Rik	T	C	14: 32,384,714 (GRCm39)	K417R	possibly damaging	Het
Adgrl2	A	T	3: 148,542,064 (GRCm39)	I886N	probably damaging	Het
Angptl2	A	G	2: 33,133,928 (GRCm39)	T417A	probably damaging	Het
Ankrd33b	T	C	15: 31,367,538 (GRCm39)	M1V	probably null	Het
Col3a1	A	G	1: 45,384,161 (GRCm39)	H1155R	unknown	Het
Csad	A	G	15: 102,095,599 (GRCm39)	S153P	probably damaging	Het
Dennd1b	G	A	1: 138,990,611 (GRCm39)	E192K	probably damaging	Het
Dmtf1	C	T	5: 9,172,457 (GRCm39)		probably benign	Het
Dna2	T	C	10: 62,809,073 (GRCm39)	I1055T	probably benign	Het
Dnai4	C	T	4: 102,947,630 (GRCm39)	M215I	probably benign	Het
Dync2h1	T	C	9: 7,076,232 (GRCm39)	D2975G	probably benign	Het
Eif1ad7	A	T	12: 88,238,476 (GRCm39)	Y95N	probably damaging	Het
F5	G	T	1: 164,035,453 (GRCm39)	V1876F	possibly damaging	Het
Fam81b	T	A	13: 76,399,809 (GRCm39)	I150F	probably damaging	Het
Fbl	T	A	7: 27,877,684 (GRCm39)	V252E	probably damaging	Het
Fbln1	A	G	15: 85,124,917 (GRCm39)	D475G	probably damaging	Het
Fshr	T	A	17: 89,293,590 (GRCm39)	I363F	probably benign	Het
Gapvd1	A	G	2: 34,568,635 (GRCm39)	L1328P	probably damaging	Het
Hcfc2	T	A	10: 82,547,659 (GRCm39)		probably null	Het
Ifi209	C	A	1: 173,470,198 (GRCm39)	T262K	probably damaging	Het
Kif2b	T	A	11: 91,467,411 (GRCm39)	I291F	possibly damaging	Het
Lrp1b	T	A	2: 40,712,641 (GRCm39)	D3231V		Het
Mcidas	G	A	13: 113,135,521 (GRCm39)	G315S	probably damaging	Het
Naip5	T	A	13: 100,356,338 (GRCm39)	E1092D	probably benign	Het
Nudcd1	T	C	15: 44,268,754 (GRCm39)	K209E	probably benign	Het
Nup98	C	T	7: 101,802,464 (GRCm39)		probably null	Het
Odad3	T	C	9: 21,904,193 (GRCm39)	D361G	possibly damaging	Het
Or2ag2	T	C	7: 106,485,829 (GRCm39)	Q65R	probably damaging	Het
Or2j6	T	A	7: 139,980,234 (GRCm39)	I242F	probably benign	Het
Pign	T	C	1: 105,480,122 (GRCm39)	I851V	probably benign	Het
Pkd1l3	T	A	8: 110,341,204 (GRCm39)	L19Q	unknown	Het
Plat	G	T	8: 23,262,248 (GRCm39)	G91W	probably damaging	Het
Plekhm2	A	G	4: 141,355,150 (GRCm39)	L959P	probably benign	Het
Prkcg	T	C	7: 3,378,459 (GRCm39)	I627T	possibly damaging	Het
Prl7b1	A	T	13: 27,791,031 (GRCm39)	M18K	probably benign	Het
Ptpn3	T	A	4: 57,265,092 (GRCm39)		probably null	Het
Rp1	A	T	1: 4,240,457 (GRCm39)	F899I	unknown	Het
Sis	T	A	3: 72,832,431 (GRCm39)	Y1026F	probably benign	Het
Slc4a10	T	G	2: 62,127,194 (GRCm39)	V879G	probably damaging	Het
Specc1l	T	C	10: 75,082,251 (GRCm39)	I549T	probably benign	Het
Spmip11	T	A	15: 98,483,250 (GRCm39)	V60E	probably damaging	Het
Sprr2a3	G	A	3: 92,196,066 (GRCm39)	V58M	unknown	Het
Sptbn2	C	G	19: 4,799,040 (GRCm39)	R2037G	probably benign	Het
Syne2	C	T	12: 76,106,209 (GRCm39)	H785Y	probably benign	Het
Tmem184a	C	T	5: 139,792,744 (GRCm39)	A271T	probably benign	Het
Tmprss11d	T	C	5: 86,451,493 (GRCm39)	I411V	probably damaging	Het
Ttn	T	C	2: 76,733,872 (GRCm39)	I4468V	unknown	Het
Vcam1	T	C	3: 115,909,734 (GRCm39)	N531S	possibly damaging	Het
Vmn1r257	C	T	7: 22,391,343 (GRCm39)	V134I	probably benign	Het
Xcl1	T	C	1: 164,763,041 (GRCm39)	T7A	unknown	Het
Zc3h11a	A	G	1: 133,565,173 (GRCm39)	V242A	probably benign	Het
Zc3h7a	A	T	16: 10,971,025 (GRCm39)	Y335N	probably benign	Het
Zp2	T	C	7: 119,731,731 (GRCm39)	I675V	unknown	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
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'- CTGCTTAGGTCTAAACACAGCTC -3'
(R):5'- TTTACATCCCCACGTTCGGG -3'

Sequencing Primer
(F):5'- AACTCCCCATCTTAGCCTTACAGG -3'
(R):5'- ATCCCCACGTTCGGGTCTTATC -3'

Posted On

2019-11-26