Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02820:Tmt1a'

360980

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Tmt1a

Ensembl Gene

ENSMUSG00000054619

Gene Name

thiol methyltransferase 1A1

Synonyms

2210414H16Rik, Mettl7a, 3300001H21Rik, Mettl7a1

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.175) question?

Stock #

IGL02820

Quality Score

Status

Chromosome

Chromosomal Location

100202021-100226543 bp(+) (GRCm39)

Type of Mutation

nonsense

DNA Base Change (assembly)

C to A at 100202933 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Stop codon at position 51 (S51*)

Ref Sequence

ENSEMBL: ENSMUSP00000155621 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000067752] [ENSMUST00000229217] [ENSMUST00000229574] [ENSMUST00000229588] [ENSMUST00000230018] [ENSMUST00000230252] [ENSMUST00000230472] [ENSMUST00000231166]

AlphaFold

Q8C6B0

Predicted Effect

probably null
Transcript: ENSMUST00000067752
AA Change: S69*

SMART Domains

Protein: ENSMUSP00000065271
Gene: ENSMUSG00000054619
AA Change: S69*

Domain	Start	End	E-Value	Type
Pfam:Ubie_methyltran	31	195	7.7e-12	PFAM
Pfam:Methyltransf_23	47	221	7e-20	PFAM
Pfam:Methyltransf_31	68	223	1.5e-15	PFAM
Pfam:Methyltransf_18	71	176	1e-9	PFAM
Pfam:Methyltransf_25	74	168	4e-12	PFAM
Pfam:Methyltransf_12	75	170	8.6e-16	PFAM
Pfam:Methyltransf_11	75	172	6.6e-23	PFAM
Pfam:Methyltransf_8	117	197	1.1e-8	PFAM

Predicted Effect

probably null
Transcript: ENSMUST00000229217
AA Change: S51*

Predicted Effect

silent
Transcript: ENSMUST00000229574

Predicted Effect

probably null
Transcript: ENSMUST00000229588
AA Change: S69*

Predicted Effect

probably benign
Transcript: ENSMUST00000230018

Predicted Effect

probably null
Transcript: ENSMUST00000230252
AA Change: S24*

Predicted Effect

probably null
Transcript: ENSMUST00000230472
AA Change: S51*

Predicted Effect

silent
Transcript: ENSMUST00000231166

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 49 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
9030624G23Rik	T	C	12: 24,124,417 (GRCm39)	Y86C	probably benign	Het
Adgra2	G	A	8: 27,607,535 (GRCm39)	V47M	probably damaging	Het
Anks1b	T	C	10: 89,912,921 (GRCm39)	C349R	possibly damaging	Het
Anks4b	A	T	7: 119,781,914 (GRCm39)		probably benign	Het
Apobec2	A	G	17: 48,730,295 (GRCm39)	S124P	probably damaging	Het
Brd8	G	A	18: 34,740,354 (GRCm39)	S493L	probably benign	Het
Cbln3	A	G	14: 56,120,944 (GRCm39)	Y126H	probably damaging	Het
Ccdc138	T	C	10: 58,364,721 (GRCm39)		probably benign	Het
Cckbr	C	T	7: 105,083,238 (GRCm39)	A147V	probably damaging	Het
Ceacam2	T	A	7: 25,219,411 (GRCm39)	H283L	probably damaging	Het
Cfap251	A	G	5: 123,392,699 (GRCm39)		probably benign	Het
Clasp1	A	G	1: 118,478,834 (GRCm39)	D718G	possibly damaging	Het
Clmn	A	T	12: 104,739,493 (GRCm39)	Y979N	probably damaging	Het
Ddias	T	C	7: 92,508,551 (GRCm39)	T455A	probably benign	Het
Dennd5b	T	C	6: 148,920,840 (GRCm39)	R851G	probably null	Het
Dock1	T	C	7: 134,768,944 (GRCm39)	V1771A	probably benign	Het
Dysf	T	A	6: 84,077,187 (GRCm39)	L694Q	probably damaging	Het
Faim2	T	C	15: 99,419,138 (GRCm39)	Y77C	probably benign	Het
Fbxw22	A	T	9: 109,215,732 (GRCm39)	I172N	probably damaging	Het
Fhad1	C	T	4: 141,646,069 (GRCm39)	D298N	probably benign	Het
Fyb1	T	G	15: 6,688,040 (GRCm39)	V800G	possibly damaging	Het
Gcm1	T	C	9: 77,971,844 (GRCm39)	F262L	probably benign	Het
Gm21983	T	C	7: 26,879,605 (GRCm39)	M121V	probably benign	Het
Gm9996	A	T	10: 29,019,657 (GRCm39)		probably benign	Het
Gstm3	A	T	3: 107,876,074 (GRCm39)		probably benign	Het
Gsto2	G	T	19: 47,863,398 (GRCm39)	E91D	probably damaging	Het
Hs6st3	G	T	14: 119,376,492 (GRCm39)	M222I	possibly damaging	Het
Ighv3-6	T	C	12: 114,251,850 (GRCm39)	D90G	probably damaging	Het
Itgb1bp1	C	T	12: 21,326,854 (GRCm39)	A40T	possibly damaging	Het
Kcns3	C	T	12: 11,141,872 (GRCm39)	E276K	probably benign	Het
Lamc3	C	T	2: 31,813,034 (GRCm39)	R1007C	probably damaging	Het
Lnx2	A	T	5: 146,978,877 (GRCm39)	M125K	probably damaging	Het
Lyst	T	A	13: 13,812,643 (GRCm39)	N1018K	probably benign	Het
Mctp2	T	A	7: 71,895,290 (GRCm39)	S186C	probably damaging	Het
Or1j20	A	T	2: 36,759,871 (GRCm39)	T98S	probably benign	Het
Polg	T	C	7: 79,109,519 (GRCm39)	T433A	possibly damaging	Het
Rdh13	C	T	7: 4,438,059 (GRCm39)	V127M	probably damaging	Het
Rdh16	A	G	10: 127,649,470 (GRCm39)	T309A	probably benign	Het
Reep5	A	T	18: 34,506,312 (GRCm39)	D21E	probably benign	Het
Rptn	A	T	3: 93,304,227 (GRCm39)	N520I	probably benign	Het
Rttn	T	C	18: 89,047,122 (GRCm39)	L928P	probably damaging	Het
Slc44a2	A	G	9: 21,254,273 (GRCm39)	I212V	probably benign	Het
Snupn	A	G	9: 56,870,332 (GRCm39)	T71A	probably benign	Het
Ssu2	T	C	6: 112,359,353 (GRCm39)	N89S	probably benign	Het
Thsd7a	A	G	6: 12,321,071 (GRCm39)	S1535P	probably damaging	Het
Uba7	A	T	9: 107,858,715 (GRCm39)	S849C	probably benign	Het
Vmn2r80	A	G	10: 79,007,439 (GRCm39)	T472A	probably benign	Het
Wdr6	A	G	9: 108,455,743 (GRCm39)	I17T	probably benign	Het
Xkr9	G	A	1: 13,771,173 (GRCm39)	V230I	probably benign	Het

Other mutations in Tmt1a

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
R0943:Tmt1a	UTSW	15	100,202,839 (GRCm39)	missense	probably benign	0.19
R2258:Tmt1a	UTSW	15	100,211,049 (GRCm39)	missense	probably benign	0.43
R2259:Tmt1a	UTSW	15	100,211,049 (GRCm39)	missense	probably benign	0.43
R4260:Tmt1a	UTSW	15	100,210,951 (GRCm39)	missense	probably benign	0.12
R4625:Tmt1a	UTSW	15	100,210,939 (GRCm39)	missense	probably damaging	1.00
R4932:Tmt1a	UTSW	15	100,202,987 (GRCm39)	missense	probably benign	0.26
R7802:Tmt1a	UTSW	15	100,203,182 (GRCm39)	missense	possibly damaging	0.80
R7839:Tmt1a	UTSW	15	100,202,957 (GRCm39)	missense	possibly damaging	0.65
R9294:Tmt1a	UTSW	15	100,211,014 (GRCm39)	missense	probably damaging	1.00
R9502:Tmt1a	UTSW	15	100,203,215 (GRCm39)	missense	probably damaging	1.00

Posted On

2015-12-18