Mutagenetix > Incidental Mutations

Incidental Mutation 'IGL00490:Thg1l'

6063

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Thg1l

Ensembl Gene

ENSMUSG00000011254

Gene Name

tRNA-histidine guanylyltransferase 1-like (S. cerevisiae)

Synonyms

5730409G07Rik, 1700121M19Rik

Accession Numbers

Is this an essential gene?

Essential (E-score: 1.000) question?

Stock #

IGL00490

Quality Score

Status

Chromosome

Chromosomal Location

45946843-45955494 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 45954221 bp

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Glycine at position 8 (E8G)

Ref Sequence

ENSEMBL: ENSMUSP00000104877 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000011398] [ENSMUST00000109254]

Predicted Effect

probably benign
Transcript: ENSMUST00000011398
AA Change: E68G

PolyPhen 2 Score 0.006 (Sensitivity: 0.97; Specificity: 0.75)

SMART Domains

Protein: ENSMUSP00000011398
Gene: ENSMUSG00000011254
AA Change: E68G

Domain	Start	End	E-Value	Type
signal peptide	1	25	N/A	INTRINSIC
Pfam:Thg1	35	164	1e-53	PFAM
Pfam:Thg1C	167	283	2.6e-47	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000109254
AA Change: E8G

PolyPhen 2 Score 0.022 (Sensitivity: 0.95; Specificity: 0.81)

SMART Domains

Protein: ENSMUSP00000104877
Gene: ENSMUSG00000011254
AA Change: E8G

Domain	Start	End	E-Value	Type
Pfam:Thg1	2	104	2.1e-37	PFAM
Pfam:Thg1C	105	235	6.5e-54	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000131182

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000133238

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000133851

Coding Region Coverage

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 a mitochondrial protein that is induced by high levels of glucose and is associated with diabetic nephropathy. The encoded protein appears to increase mitochondrial biogenesis, which could lead to renal fibrosis. Another function of this protein is that of a guanyltransferase, adding GMP to the 5' end of tRNA(His). Several transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Dec 2015]

Allele List at MGI

Other mutations in this stock

Total: 30 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adgrb2	A	G	4: 130,011,872	E837G	possibly damaging	Het
Atp13a3	A	G	16: 30,352,354	M291T	probably benign	Het
Coq8b	C	A	7: 27,257,477	H518Q	probably benign	Het
Crebrf	A	G	17: 26,743,093	D388G	probably damaging	Het
Cyp2d10	A	T	15: 82,403,314	S244T	possibly damaging	Het
Ddr2	A	T	1: 170,005,194	L99H	probably damaging	Het
Dennd1a	G	T	2: 37,801,152	D251E	probably damaging	Het
Fam210a	G	T	18: 68,268,912	T210N	probably damaging	Het
Gigyf2	C	A	1: 87,436,850	Q951K	probably damaging	Het
Gramd1b	T	A	9: 40,310,041	I280F	probably damaging	Het
Gsdmc3	T	A	15: 63,859,677	K335N	probably benign	Het
Loxhd1	A	T	18: 77,431,074	T993S	possibly damaging	Het
Mfsd6	A	G	1: 52,708,254	L484P	probably damaging	Het
Myt1l	T	A	12: 29,827,424	V358E	unknown	Het
Mzt1	A	G	14: 99,040,670		probably benign	Het
Nrxn2	C	A	19: 6,473,593	H514Q	possibly damaging	Het
Nup214	G	A	2: 32,033,979	E2K	probably damaging	Het
Pcdhb4	G	T	18: 37,309,916	G760W	possibly damaging	Het
Ptger2	T	C	14: 45,001,741		probably benign	Het
Serpinb1c	T	C	13: 32,883,975	K213E	probably damaging	Het
Smcr8	T	A	11: 60,778,632		probably null	Het
Spef2	A	T	15: 9,740,535	D46E	probably damaging	Het
Tbc1d32	G	A	10: 56,155,765	P689L	probably damaging	Het
Tep1	C	A	14: 50,833,473	W2123L	probably damaging	Het
Tmem236	A	G	2: 14,219,378	Y326C	probably damaging	Het
Trip4	C	T	9: 65,833,410	G573R	probably damaging	Het
Trrap	C	T	5: 144,825,225	T2320I	probably benign	Het
Tsnaxip1	A	G	8: 105,842,184	N435S	probably damaging	Het
Ube3a	A	G	7: 59,272,110	N77D	probably damaging	Het
Uvrag	A	T	7: 98,979,741	I373N	probably damaging	Het

Other mutations in Thg1l

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01111:Thg1l	APN	11	45948224	missense	probably damaging	0.98
IGL01899:Thg1l	APN	11	45954191	missense	probably damaging	0.96
IGL02097:Thg1l	APN	11	45950228	missense	probably benign	0.09
IGL02746:Thg1l	APN	11	45948227	nonsense	probably null
R0547:Thg1l	UTSW	11	45954191	missense	probably damaging	1.00
R1099:Thg1l	UTSW	11	45954161	missense	possibly damaging	0.76
R1998:Thg1l	UTSW	11	45950203	missense	possibly damaging	0.95
R2568:Thg1l	UTSW	11	45951565	missense	probably benign
R4738:Thg1l	UTSW	11	45954191	missense	probably damaging	1.00
R5614:Thg1l	UTSW	11	45950227	missense	possibly damaging	0.65
R6191:Thg1l	UTSW	11	45954161	missense	probably benign	0.03
R7703:Thg1l	UTSW	11	45955293	missense	probably damaging	1.00
R8218:Thg1l	UTSW	11	45955450	missense	probably benign

Posted On

2012-04-20