Mutagenetix > Incidental Mutation

Incidental Mutation 'R9484:Th'

716446

Institutional Source

Beutler Lab

Gene Symbol

Ensembl Gene

ENSMUSG00000000214

Gene Name

tyrosine hydroxylase

Synonyms

MMRRC Submission

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R9484 (G1)

Quality Score

148.008

Status

Not validated

Chromosome

Chromosomal Location

142446516-142453732 bp(-) (GRCm39)

Type of Mutation

nonsense

DNA Base Change (assembly)

C to A at 142453620 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Stop codon at position 27 (E27*)

Ref Sequence

ENSEMBL: ENSMUSP00000000219 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000000219] [ENSMUST00000105929] [ENSMUST00000123057] [ENSMUST00000124951] [ENSMUST00000140344]

AlphaFold

P24529

Predicted Effect

probably null
Transcript: ENSMUST00000000219
AA Change: E27*

SMART Domains

Protein: ENSMUSP00000000219
Gene: ENSMUSG00000000214
AA Change: E27*

Domain	Start	End	E-Value	Type
Pfam:TOH_N	2	26	2.3e-15	PFAM
Pfam:TOH_N	29	49	2.6e-11	PFAM
low complexity region	51	63	N/A	INTRINSIC
PDB:2MDA\|B	65	146	1e-49	PDB
low complexity region	147	158	N/A	INTRINSIC
Pfam:Biopterin_H	165	495	1.2e-180	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000105929

SMART Domains

Protein: ENSMUSP00000101549
Gene: ENSMUSG00000000214

Domain	Start	End	E-Value	Type
PDB:2MDA\|B	8	51	1e-21	PDB
low complexity region	52	63	N/A	INTRINSIC
Pfam:Biopterin_H	70	401	2.2e-196	PFAM

Predicted Effect

probably null
Transcript: ENSMUST00000123057
AA Change: E27*

Predicted Effect

probably null
Transcript: ENSMUST00000124951
AA Change: E27*

SMART Domains

Protein: ENSMUSP00000122876
Gene: ENSMUSG00000000214
AA Change: E27*

Domain	Start	End	E-Value	Type
Pfam:TOH_N	2	26	5e-16	PFAM
Pfam:TOH_N	28	49	4.1e-10	PFAM
low complexity region	51	63	N/A	INTRINSIC
PDB:2MDA\|B	65	146	2e-52	PDB
low complexity region	147	158	N/A	INTRINSIC
Pfam:Biopterin_H	165	232	7.2e-37	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000138482

Predicted Effect

probably benign
Transcript: ENSMUST00000140344

SMART Domains

Protein: ENSMUSP00000115434
Gene: ENSMUSG00000000214

Domain	Start	End	E-Value	Type
Pfam:TOH_N	11	29	5.2e-9	PFAM
low complexity region	31	43	N/A	INTRINSIC
PDB:2MDA\|B	45	126	7e-53	PDB
low complexity region	127	138	N/A	INTRINSIC
Pfam:Biopterin_H	145	171	3.9e-11	PFAM

Coding Region Coverage

1x: 99.9%
3x: 99.8%
10x: 99.2%
20x: 97.1%

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is involved in the conversion of tyrosine to dopamine. It is the rate-limiting enzyme in the synthesis of catecholamines, hence plays a key role in the physiology of adrenergic neurons. Mutations in this gene have been associated with autosomal recessive Segawa syndrome. Alternatively spliced transcript variants encoding different isoforms have been noted for this gene. [provided by RefSeq, Jul 2008]
PHENOTYPE: Homozygotes for targeted null mutations are deficient in catecholamines, and usually die around embryonic day 11.5-15.5 due to cardiac failure. Treatment of the pregnant female with dihydroxyphenylalanine prevents prenatal mortality. Mice homozygous for hypomorphic targeted alleles are hypokinetic. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 83 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acads	A	T	5: 115,250,845 (GRCm39)	C151S	probably damaging	Het
Actr8	T	C	14: 29,708,301 (GRCm39)	I193T	probably benign	Het
Btbd2	T	C	10: 80,480,103 (GRCm39)	N419S	probably benign	Het
Cacna2d1	T	A	5: 16,561,831 (GRCm39)	W821R	probably damaging	Het
Cadps2	T	C	6: 23,626,646 (GRCm39)	Y214C	probably benign	Het
Calu	T	A	6: 29,366,162 (GRCm39)	L180Q	probably damaging	Het
Corin	C	T	5: 72,497,280 (GRCm39)	V615I	probably damaging	Het
Cyp8b1	A	T	9: 121,744,983 (GRCm39)	D116E	probably benign	Het
D630036H23Rik	C	A	12: 36,431,711 (GRCm39)	A96S	unknown	Het
Ddx24	A	T	12: 103,377,555 (GRCm39)	Y717N	probably damaging	Het
Dmap1	G	T	4: 117,533,308 (GRCm39)	Q249K	probably benign	Het
Dnah10	T	A	5: 124,900,508 (GRCm39)	W3922R	probably damaging	Het
Dnah14	T	C	1: 181,517,773 (GRCm39)	F2036L	probably benign	Het
Dnah14	T	C	1: 181,625,311 (GRCm39)	I4064T	probably benign	Het
Dock9	A	C	14: 121,818,844 (GRCm39)	V1546G	probably damaging	Het
Eif1ad4	A	T	12: 87,862,249 (GRCm39)	Q37L	possibly damaging	Het
Eif3a	A	T	19: 60,755,006 (GRCm39)	S1059T	unknown	Het
Ep300	A	G	15: 81,521,026 (GRCm39)	E1262G	unknown	Het
Evl	T	A	12: 108,652,716 (GRCm39)	I387N	probably damaging	Het
Fat2	A	C	11: 55,200,752 (GRCm39)	V774G	probably damaging	Het
Fez1	T	A	9: 36,755,093 (GRCm39)	Y31N	probably benign	Het
Fkbp10	A	G	11: 100,313,960 (GRCm39)	I435V	probably damaging	Het
Flnb	A	G	14: 7,929,004 (GRCm38)	D1911G	probably benign	Het
Fnbp1	T	C	2: 30,973,038 (GRCm39)	Y154C	probably benign	Het
Fndc10	T	C	4: 155,779,496 (GRCm39)	I180T	possibly damaging	Het
Frmd4a	G	A	2: 4,609,026 (GRCm39)	V965I	possibly damaging	Het
Gabrr2	A	G	4: 33,071,352 (GRCm39)	H64R	possibly damaging	Het
Glis3	T	C	19: 28,508,403 (GRCm39)	D527G	probably damaging	Het
H2-Ob	T	A	17: 34,459,989 (GRCm39)	F33L	probably damaging	Het
Hbb-bh1	C	T	7: 103,492,239 (GRCm39)	E27K	probably benign	Het
Ifnb1	T	A	4: 88,440,915 (GRCm39)	T33S	probably benign	Het
Igkv4-80	T	A	6: 68,993,766 (GRCm39)	T42S	probably damaging	Het
Irs2	C	T	8: 11,057,334 (GRCm39)	G366D	probably damaging	Het
Kcnk2	CAAA	CAA	1: 188,988,891 (GRCm39)		probably null	Het
Krtap5-3	T	A	7: 141,756,068 (GRCm39)	C302S	unknown	Het
Lgi1	A	G	19: 38,294,757 (GRCm39)	K510E	probably benign	Het
Lgi2	T	A	5: 52,695,936 (GRCm39)	D341V	probably benign	Het
Lin7c	T	C	2: 109,724,813 (GRCm39)	I14T	probably benign	Het
Lrrc19	A	T	4: 94,531,573 (GRCm39)	M13K	probably benign	Het
Lrrc69	T	C	4: 14,666,012 (GRCm39)	I315M	probably benign	Het
Mtcl3	G	A	10: 29,072,969 (GRCm39)	D754N	probably damaging	Het
Myo5c	A	T	9: 75,204,770 (GRCm39)	D1541V	probably damaging	Het
Mypn	T	G	10: 63,003,019 (GRCm39)	M373L	probably benign	Het
Nckipsd	C	A	9: 108,689,837 (GRCm39)	H333N	probably damaging	Het
Nrg2	A	T	18: 36,157,401 (GRCm39)	L428Q	probably null	Het
Or13a20	T	C	7: 140,231,904 (GRCm39)	L4S	probably benign	Het
Or2b28	C	A	13: 21,531,587 (GRCm39)	T163K	probably damaging	Het
Or5an11	T	C	19: 12,245,735 (GRCm39)	I47T	possibly damaging	Het
Otogl	T	A	10: 107,657,894 (GRCm39)		probably null	Het
Otogl	C	T	10: 107,737,156 (GRCm39)	G86D	probably damaging	Het
Papln	A	T	12: 83,838,618 (GRCm39)	Q1249L	probably benign	Het
Plxna2	G	T	1: 194,327,202 (GRCm39)	G379C	probably damaging	Het
Pofut2	T	C	10: 77,095,260 (GRCm39)	I35T	probably benign	Het
Pros1	A	G	16: 62,744,887 (GRCm39)	T501A	possibly damaging	Het
Rapgef1	T	C	2: 29,625,821 (GRCm39)	S1042P	possibly damaging	Het
Rps6kb1	C	T	11: 86,408,443 (GRCm39)	E185K	probably damaging	Het
Slc13a2	A	T	11: 78,294,233 (GRCm39)	L216Q	probably damaging	Het
Slc22a14	T	C	9: 119,009,615 (GRCm39)	Y160C	probably damaging	Het
Slc22a4	T	A	11: 53,879,773 (GRCm39)	I429F	possibly damaging	Het
Slc26a3	A	G	12: 31,511,785 (GRCm39)	K457E	probably damaging	Het
Slc47a2	T	C	11: 61,227,060 (GRCm39)	I169M	possibly damaging	Het
Slco1a1	C	T	6: 141,854,672 (GRCm39)	V660I	probably benign	Het
Smyd1	A	G	6: 71,202,450 (GRCm39)	Y252H	probably damaging	Het
Spp2	A	T	1: 88,334,695 (GRCm39)		probably benign	Het
Stra8	T	A	6: 34,911,121 (GRCm39)	W250R	probably damaging	Het
Syne1	A	C	10: 5,170,359 (GRCm39)	L5183R	probably damaging	Het
Tdrd9	T	C	12: 112,012,684 (GRCm39)	S1203P	probably damaging	Het
Thada	C	A	17: 84,736,619 (GRCm39)	L887F	probably damaging	Het
Timm23	T	C	14: 31,902,586 (GRCm39)	T186A	probably benign	Het
Tmem132b	A	T	5: 125,860,420 (GRCm39)	E555V	probably damaging	Het
Tnik	A	T	3: 28,649,093 (GRCm39)	Q457L	unknown	Het
Uba7	C	A	9: 107,861,037 (GRCm39)	H942Q	probably benign	Het
Upf2	T	C	2: 5,966,078 (GRCm39)	S233P	unknown	Het
Urm1	T	A	2: 29,732,760 (GRCm39)	N72K	probably damaging	Het
Usp10	T	C	8: 120,675,504 (GRCm39)	S508P	possibly damaging	Het
Usp37	G	A	1: 74,499,081 (GRCm39)	P632S	probably damaging	Het
Wdr77	T	A	3: 105,872,404 (GRCm39)	N209K	probably benign	Het
Zbtb24	C	T	10: 41,327,429 (GRCm39)	T105M	probably benign	Het
Zfp341	T	A	2: 154,485,763 (GRCm39)	I671N	probably damaging	Het
Zfp414	A	G	17: 33,848,984 (GRCm39)	T73A	probably benign	Het
Zfp574	A	T	7: 24,781,404 (GRCm39)	I809F	possibly damaging	Het
Zfp62	T	C	11: 49,108,108 (GRCm39)	I733T	probably damaging	Het
Zfp719	A	G	7: 43,239,581 (GRCm39)	I390V	possibly damaging	Het

Other mutations in Th

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00949:Th	APN	7	142,450,763 (GRCm39)	missense	probably benign	0.01
IGL02308:Th	APN	7	142,451,794 (GRCm39)	missense	possibly damaging	0.69
IGL02417:Th	APN	7	142,453,643 (GRCm39)	missense	probably damaging	1.00
IGL02565:Th	APN	7	142,453,647 (GRCm39)	missense	probably damaging	1.00
IGL02896:Th	APN	7	142,449,168 (GRCm39)	missense	probably damaging	1.00
R0311:Th	UTSW	7	142,449,778 (GRCm39)	missense	probably damaging	1.00
R1072:Th	UTSW	7	142,448,225 (GRCm39)	missense	probably benign
R1595:Th	UTSW	7	142,450,745 (GRCm39)	missense	probably benign	0.06
R1756:Th	UTSW	7	142,451,903 (GRCm39)	nonsense	probably null
R2091:Th	UTSW	7	142,449,280 (GRCm39)	missense	probably damaging	0.98
R2850:Th	UTSW	7	142,447,812 (GRCm39)	nonsense	probably null
R3151:Th	UTSW	7	142,447,812 (GRCm39)	nonsense	probably null
R4458:Th	UTSW	7	142,450,690 (GRCm39)	missense	probably benign	0.41
R4870:Th	UTSW	7	142,447,834 (GRCm39)	missense	probably benign
R5382:Th	UTSW	7	142,449,177 (GRCm39)	missense	probably damaging	1.00
R7874:Th	UTSW	7	142,449,308 (GRCm39)	nonsense	probably null
R8049:Th	UTSW	7	142,447,860 (GRCm39)	missense	probably damaging	1.00
R8425:Th	UTSW	7	142,447,823 (GRCm39)	missense	possibly damaging	0.86
R8431:Th	UTSW	7	142,446,801 (GRCm39)	missense	probably benign	0.00
R8970:Th	UTSW	7	142,446,796 (GRCm39)	missense	probably damaging	1.00
R9745:Th	UTSW	7	142,448,851 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- TGAAACAGGTCCTGGCTGTC -3'
(R):5'- TTAGATCTAATGGGACGGAGGC -3'

Sequencing Primer
(F):5'- TGTCCCTCTCGGAGTCCAG -3'
(R):5'- TAATGGGACGGAGGCCTCTC -3'

Posted On

2022-07-18