Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01111:Thg1l'

52320

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

Essential gene?

Essential (E-score: 1.000) question?

Stock #

IGL01111

Quality Score

Status

Chromosome

Chromosomal Location

45837670-45846321 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 45839051 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glutamic Acid at position 220 (D220E)

Ref Sequence

ENSEMBL: ENSMUSP00000104877 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000011398] [ENSMUST00000062458] [ENSMUST00000109254] [ENSMUST00000129820]

AlphaFold

Q9CY52

Predicted Effect

probably damaging
Transcript: ENSMUST00000011398
AA Change: D280E

PolyPhen 2 Score 0.983 (Sensitivity: 0.75; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000011398
Gene: ENSMUSG00000011254
AA Change: D280E

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: ENSMUST00000062458

SMART Domains

Protein: ENSMUSP00000057343
Gene: ENSMUSG00000044847

Domain	Start	End	E-Value	Type
low complexity region	7	23	N/A	INTRINSIC
low complexity region	33	51	N/A	INTRINSIC
low complexity region	65	106	N/A	INTRINSIC
Pfam:LSM	159	240	3.6e-8	PFAM
low complexity region	273	306	N/A	INTRINSIC
SCOP:d1b34b_	327	358	2e-3	SMART

Predicted Effect

probably damaging
Transcript: ENSMUST00000109254
AA Change: D220E

PolyPhen 2 Score 0.983 (Sensitivity: 0.75; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000104877
Gene: ENSMUSG00000011254
AA Change: D220E

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

Predicted Effect

probably benign
Transcript: ENSMUST00000129820

SMART Domains

Protein: ENSMUSP00000117531
Gene: ENSMUSG00000044847

Domain	Start	End	E-Value	Type
low complexity region	7	23	N/A	INTRINSIC
low complexity region	33	51	N/A	INTRINSIC
low complexity region	65	106	N/A	INTRINSIC
SCOP:d1b34b_	156	225	3e-8	SMART
Blast:Sm	158	359	1e-104	BLAST
SCOP:d1b34b_	327	358	2e-3	SMART

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: 44 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Ammecr1l	T	A	18: 31,905,123 (GRCm39)	Y121*	probably null	Het
Apc	C	T	18: 34,448,189 (GRCm39)	T1661I	possibly damaging	Het
Ccdc13	T	C	9: 121,639,150 (GRCm39)		probably benign	Het
Cfap206	C	T	4: 34,721,562 (GRCm39)	S162N	probably damaging	Het
Cpt1c	T	C	7: 44,614,978 (GRCm39)	H325R	possibly damaging	Het
Cyp2a22	T	C	7: 26,635,883 (GRCm39)	K227E	probably damaging	Het
Ddx10	T	C	9: 53,071,248 (GRCm39)	K682E	possibly damaging	Het
Dlg2	T	C	7: 91,098,971 (GRCm39)	Y123H	possibly damaging	Het
Dnaaf9	G	T	2: 130,578,518 (GRCm39)	D655E	possibly damaging	Het
Dnah11	A	T	12: 118,106,669 (GRCm39)		probably benign	Het
Dpysl2	T	C	14: 67,071,681 (GRCm39)	E153G	probably damaging	Het
Edrf1	T	A	7: 133,260,282 (GRCm39)	Y64*	probably null	Het
Ephb2	A	T	4: 136,384,721 (GRCm39)	S897T	probably benign	Het
Flt1	A	G	5: 147,515,146 (GRCm39)	I1092T	probably damaging	Het
Gabra4	T	C	5: 71,790,972 (GRCm39)	Y290C	probably damaging	Het
Hectd2	A	T	19: 36,574,520 (GRCm39)	H67L	probably damaging	Het
Itgb2	T	C	10: 77,377,834 (GRCm39)	L11P	probably damaging	Het
Jmy	T	C	13: 93,577,529 (GRCm39)	R880G	probably damaging	Het
Klhl2	A	G	8: 65,202,081 (GRCm39)	C532R	probably damaging	Het
Kpna1	A	G	16: 35,833,259 (GRCm39)		probably benign	Het
L3mbtl2	T	C	15: 81,569,099 (GRCm39)	V591A	possibly damaging	Het
Ldc1	T	A	4: 130,115,518 (GRCm39)	D10V	probably benign	Het
Lepr	A	T	4: 101,671,852 (GRCm39)	N959Y	possibly damaging	Het
Man1a	A	T	10: 53,853,109 (GRCm39)		probably benign	Het
Mov10	A	T	3: 104,708,721 (GRCm39)	S431T	possibly damaging	Het
Mx2	A	T	16: 97,359,919 (GRCm39)	Q563L	probably benign	Het
Nrap	A	T	19: 56,333,990 (GRCm39)	Y874N	probably damaging	Het
Nup160	T	C	2: 90,563,553 (GRCm39)	I1373T	probably benign	Het
Nwd2	A	T	5: 63,964,643 (GRCm39)	D1409V	probably damaging	Het
Obsl1	A	T	1: 75,473,789 (GRCm39)	V744E	possibly damaging	Het
Or51l4	T	A	7: 103,404,580 (GRCm39)	T71S	probably benign	Het
Pgap1	T	C	1: 54,570,102 (GRCm39)	K315R	probably benign	Het
Rab8a	T	C	8: 72,929,700 (GRCm39)	V114A	probably damaging	Het
Sh2d6	T	C	6: 72,496,812 (GRCm39)	T73A	probably benign	Het
Shroom1	A	G	11: 53,354,875 (GRCm39)	E265G	probably damaging	Het
Slc8b1	G	A	5: 120,671,000 (GRCm39)	V529M	probably damaging	Het
Srbd1	G	T	17: 86,405,961 (GRCm39)	A613E	probably benign	Het
Stat1	G	A	1: 52,182,120 (GRCm39)		probably null	Het
Tbck	A	G	3: 132,400,168 (GRCm39)	H73R	probably damaging	Het
Ttn	C	T	2: 76,608,667 (GRCm39)	G16037D	probably damaging	Het
Unc13b	A	G	4: 43,096,927 (GRCm39)	E100G	possibly damaging	Het
Vmn2r81	T	A	10: 79,083,831 (GRCm39)	D68E	probably benign	Het
Xpo6	T	C	7: 125,728,740 (GRCm39)	T505A	probably benign	Het
Zfp976	T	C	7: 42,265,711 (GRCm39)	K25E	probably damaging	Het

Other mutations in Thg1l

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00490:Thg1l	APN	11	45,845,048 (GRCm39)	missense	probably benign	0.02
IGL01899:Thg1l	APN	11	45,845,018 (GRCm39)	missense	probably damaging	0.96
IGL02097:Thg1l	APN	11	45,841,055 (GRCm39)	missense	probably benign	0.09
IGL02746:Thg1l	APN	11	45,839,054 (GRCm39)	nonsense	probably null
R0547:Thg1l	UTSW	11	45,845,018 (GRCm39)	missense	probably damaging	1.00
R1099:Thg1l	UTSW	11	45,844,988 (GRCm39)	missense	possibly damaging	0.76
R1998:Thg1l	UTSW	11	45,841,030 (GRCm39)	missense	possibly damaging	0.95
R2568:Thg1l	UTSW	11	45,842,392 (GRCm39)	missense	probably benign
R4738:Thg1l	UTSW	11	45,845,018 (GRCm39)	missense	probably damaging	1.00
R5614:Thg1l	UTSW	11	45,841,054 (GRCm39)	missense	possibly damaging	0.65
R6191:Thg1l	UTSW	11	45,844,988 (GRCm39)	missense	probably benign	0.03
R7703:Thg1l	UTSW	11	45,846,120 (GRCm39)	missense	probably damaging	1.00
R8218:Thg1l	UTSW	11	45,846,277 (GRCm39)	missense	probably benign
R9347:Thg1l	UTSW	11	45,845,288 (GRCm39)	start gained	probably benign
R9349:Thg1l	UTSW	11	45,846,273 (GRCm39)	missense	probably benign

Posted On

2013-06-21