Mutagenetix > Incidental Mutation

Incidental Mutation 'R7703:Thg1l'

594138

Institutional Source

Beutler Lab

Gene Symbol

Thg1l

Ensembl Gene

ENSMUSG00000011254

Gene Name

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

Synonyms

5730409G07Rik, 1700121M19Rik

MMRRC Submission

045764-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R7703 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

45837670-45846321 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to G at 45846120 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Alanine at position 58 (D58A)

Ref Sequence

ENSEMBL: ENSMUSP00000011398 (fasta)

Gene Model

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

AlphaFold

Q9CY52

Predicted Effect

probably damaging
Transcript: ENSMUST00000011398
AA Change: D58A

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

SMART Domains

Protein: ENSMUSP00000011398
Gene: ENSMUSG00000011254
AA Change: D58A

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

SMART Domains

Protein: ENSMUSP00000104877
Gene: ENSMUSG00000011254

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

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.8%
20x: 99.2%

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: 65 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1810065E05Rik	T	C	11: 58,316,593 (GRCm39)	I191T	probably damaging	Het
2310003L06Rik	T	C	5: 88,120,671 (GRCm39)	L476P	possibly damaging	Het
Aasdh	T	C	5: 77,035,924 (GRCm39)	D387G	probably damaging	Het
Ahsa2	T	A	11: 23,440,415 (GRCm39)	T327S	probably benign	Het
Ap3d1	A	T	10: 80,553,678 (GRCm39)	V523E	probably damaging	Het
Baz2b	C	A	2: 59,747,769 (GRCm39)	R1298L	probably damaging	Het
Cacna2d3	T	C	14: 28,765,503 (GRCm39)	T802A	possibly damaging	Het
Cdh23	G	T	10: 60,173,043 (GRCm39)	T1714K	probably damaging	Het
Chrna3	A	T	9: 54,923,408 (GRCm39)	D133E	probably benign	Het
Cnot1	C	T	8: 96,486,726 (GRCm39)		probably null	Het
Col16a1	A	T	4: 129,990,295 (GRCm39)	N1396Y	unknown	Het
Cox11	A	G	11: 90,529,245 (GRCm39)	N77S	probably benign	Het
Ctsf	T	G	19: 4,906,567 (GRCm39)	F165V	probably damaging	Het
Cytip	A	G	2: 58,037,920 (GRCm39)	V148A	probably damaging	Het
Diaph1	T	C	18: 38,023,862 (GRCm39)	I659V	unknown	Het
Dmxl2	A	T	9: 54,368,370 (GRCm39)	M26K	probably benign	Het
Erp44	T	A	4: 48,196,904 (GRCm39)	I340F	probably benign	Het
Fam186a	A	G	15: 99,852,678 (GRCm39)	M180T	unknown	Het
Frem2	C	T	3: 53,429,589 (GRCm39)	V2793I	probably benign	Het
Gm19410	A	G	8: 36,266,539 (GRCm39)	E1064G	probably damaging	Het
Gria4	T	C	9: 4,503,588 (GRCm39)	I343V	probably benign	Het
Grsf1	T	A	5: 88,819,150 (GRCm39)	N228Y	probably damaging	Het
H3c13	C	A	3: 96,176,309 (GRCm39)	Y100*	probably null	Het
Ighv1-18	A	T	12: 114,646,381 (GRCm39)	N74K	probably benign	Het
Kcnh6	A	T	11: 105,914,703 (GRCm39)	T703S	probably benign	Het
Lrp1b	T	A	2: 41,000,798 (GRCm39)	D2256V		Het
Lrrc63	T	C	14: 75,360,447 (GRCm39)	T352A	possibly damaging	Het
Lztfl1	T	C	9: 123,531,194 (GRCm39)	E258G	probably damaging	Het
Mcph1	T	C	8: 18,721,122 (GRCm39)	I650T	possibly damaging	Het
Mep1a	T	C	17: 43,788,997 (GRCm39)	D606G	possibly damaging	Het
Muc16	T	C	9: 18,516,578 (GRCm39)	I313M		Het
Myh7b	A	G	2: 155,462,356 (GRCm39)	Y353C	probably null	Het
Nfatc1	A	G	18: 80,725,504 (GRCm39)	L420P	probably damaging	Het
Olfml1	A	G	7: 107,170,392 (GRCm39)	E93G	probably damaging	Het
Or6b1	A	T	6: 42,814,938 (GRCm39)	E41V	probably damaging	Het
Or8c11	A	G	9: 38,289,357 (GRCm39)	H54R	probably benign	Het
Pax1	A	T	2: 147,208,034 (GRCm39)	N214I	probably damaging	Het
Pcdhb17	C	A	18: 37,619,801 (GRCm39)	H530Q	probably benign	Het
Pcdhgb7	A	T	18: 37,885,321 (GRCm39)	M164L	probably benign	Het
Pcolce	T	C	5: 137,603,474 (GRCm39)	N453S	probably benign	Het
Prr36	T	C	8: 4,262,982 (GRCm39)	T895A	probably benign	Het
Ptprq	C	T	10: 107,480,007 (GRCm39)	V1088I	probably benign	Het
Rab5a	T	A	17: 53,807,485 (GRCm39)	F174I	probably damaging	Het
Rapgef4	A	G	2: 72,010,315 (GRCm39)	D291G	probably benign	Het
Rbm25	A	T	12: 83,721,864 (GRCm39)	K683N	possibly damaging	Het
Rbpj	T	C	5: 53,803,240 (GRCm39)	I156T	probably damaging	Het
Rgsl1	A	G	1: 153,669,610 (GRCm39)	S259P	possibly damaging	Het
Ring1	T	C	17: 34,242,109 (GRCm39)	D100G	probably damaging	Het
Ryr3	A	T	2: 112,690,110 (GRCm39)	D1166E	probably damaging	Het
Sacs	A	G	14: 61,443,539 (GRCm39)	K1862E	possibly damaging	Het
Scamp5	A	G	9: 57,354,465 (GRCm39)	I63T	possibly damaging	Het
Septin14	C	T	5: 129,763,092 (GRCm39)	A334T	possibly damaging	Het
Sh3rf2	A	T	18: 42,289,201 (GRCm39)	Q706L	probably benign	Het
Skap2	A	T	6: 51,884,934 (GRCm39)	H242Q	probably benign	Het
Spmap2l	T	C	5: 77,164,444 (GRCm39)	I149T	probably benign	Het
Tfpt	A	G	7: 3,623,744 (GRCm39)		probably null	Het
Thyn1	A	G	9: 26,918,143 (GRCm39)	E177G	probably benign	Het
Tmem151b	C	T	17: 45,856,724 (GRCm39)	A239T	probably damaging	Het
Ttc21a	T	C	9: 119,788,095 (GRCm39)	V840A	probably benign	Het
Usp32	A	T	11: 84,968,153 (GRCm39)	V170E	probably damaging	Het
Vmn2r29	A	G	7: 7,234,864 (GRCm39)	V674A	probably benign	Het
Vwa8	A	G	14: 79,263,513 (GRCm39)	N781S	probably damaging	Het
Zbtb7c	C	A	18: 76,270,433 (GRCm39)	Q174K	probably benign	Het
Zeb1	T	C	18: 5,766,917 (GRCm39)	I476T	probably benign	Het
Zfp91	A	T	19: 12,754,241 (GRCm39)	D282E	probably benign	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
IGL01111:Thg1l	APN	11	45,839,051 (GRCm39)	missense	probably damaging	0.98
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
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

Predicted Primers

PCR Primer
(F):5'- AAGTTCTTGCAAACTGGTTTCAGC -3'
(R):5'- ATGGCGAATGTGGGCTTTCC -3'

Sequencing Primer
(F):5'- AAGTAGCACGGGTTTTTCACC -3'
(R):5'- GGCCAAGAGCAAGTTTGA -3'

Posted On

2019-11-12