Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02157:Tmt1b'

282265

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Tmt1b

Ensembl Gene

ENSMUSG00000025347

Gene Name

thiol methyltransferase 1B

Synonyms

Mettl7b, 0610006F02Rik

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

IGL02157

Quality Score

Status

Chromosome

Chromosomal Location

128794146-128796857 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to G at 128796486 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Proline at position 108 (T108P)

Ref Sequence

ENSEMBL: ENSMUSP00000026398 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000026398] [ENSMUST00000099112] [ENSMUST00000218290]

AlphaFold

Q9DD20

Predicted Effect

possibly damaging
Transcript: ENSMUST00000026398
AA Change: T108P

PolyPhen 2 Score 0.819 (Sensitivity: 0.84; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000026398
Gene: ENSMUSG00000025347
AA Change: T108P

Domain	Start	End	E-Value	Type
signal peptide	1	23	N/A	INTRINSIC
Pfam:Ubie_methyltran	40	193	2.8e-9	PFAM
Pfam:Methyltransf_23	43	222	5.5e-20	PFAM
Pfam:Methyltransf_31	68	225	1.6e-15	PFAM
Pfam:Methyltransf_18	71	175	4.6e-10	PFAM
Pfam:Methyltransf_25	74	168	2.3e-10	PFAM
Pfam:Methyltransf_12	75	170	8.8e-16	PFAM
Pfam:Methyltransf_11	75	172	1.9e-22	PFAM
Pfam:Methyltransf_8	120	192	3.8e-8	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000099112

SMART Domains

Protein: ENSMUSP00000096712
Gene: ENSMUSG00000025348

Domain	Start	End	E-Value	Type
Int_alpha	48	110	4.11e-6	SMART
Int_alpha	259	312	3.72e-4	SMART
Int_alpha	316	372	1.16e-14	SMART
Int_alpha	377	430	9.21e-18	SMART
Int_alpha	435	490	4.38e-1	SMART
low complexity region	510	523	N/A	INTRINSIC
SCOP:d1m1xa3	807	1039	6e-50	SMART
low complexity region	1041	1058	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000218290

Predicted Effect

probably benign
Transcript: ENSMUST00000219427

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 33 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcb1b	T	C	5: 8,855,487 (GRCm39)		probably benign	Het
Amotl1	A	T	9: 14,483,011 (GRCm39)		probably benign	Het
Amph	A	T	13: 19,288,401 (GRCm39)	T297S	possibly damaging	Het
Arhgap31	A	G	16: 38,444,263 (GRCm39)	V198A	probably damaging	Het
Bop1	T	C	15: 76,339,772 (GRCm39)	D216G	possibly damaging	Het
Cdh13	T	C	8: 119,232,410 (GRCm39)	I38T	possibly damaging	Het
Clmn	T	C	12: 104,748,177 (GRCm39)	T457A	probably benign	Het
Clstn2	A	C	9: 97,423,928 (GRCm39)	M279R	probably benign	Het
Csgalnact1	C	A	8: 68,854,144 (GRCm39)	G219V	probably damaging	Het
Fam83h	A	T	15: 75,876,904 (GRCm39)	V208E	probably damaging	Het
Fer	A	G	17: 64,445,894 (GRCm39)	N785S	probably benign	Het
Fnip1	T	C	11: 54,378,589 (GRCm39)	L225P	probably damaging	Het
Gbp11	C	T	5: 105,475,374 (GRCm39)	V325M	possibly damaging	Het
Glis1	A	G	4: 107,484,758 (GRCm39)	T418A	probably benign	Het
Hook2	C	T	8: 85,727,779 (GRCm39)		probably benign	Het
Hoxa6	C	A	6: 52,185,171 (GRCm39)	C145F	possibly damaging	Het
Lyst	G	A	13: 13,835,541 (GRCm39)	C1741Y	probably benign	Het
Mbd5	T	C	2: 49,168,987 (GRCm39)	V1156A	probably benign	Het
Mon2	G	A	10: 122,849,377 (GRCm39)	P1308S	probably damaging	Het
Mta2	T	A	19: 8,924,613 (GRCm39)		probably benign	Het
Nup188	T	A	2: 30,219,385 (GRCm39)	L867*	probably null	Het
Oca2	G	A	7: 55,974,545 (GRCm39)		probably null	Het
Or13a22	T	A	7: 140,072,847 (GRCm39)	C99S	probably damaging	Het
Or6c88	A	G	10: 129,407,019 (GRCm39)	E165G	probably damaging	Het
Or7e166	T	A	9: 19,624,585 (GRCm39)	V154E	probably benign	Het
Plekhh2	A	G	17: 84,874,370 (GRCm39)		probably benign	Het
Pramel22	A	T	4: 143,380,947 (GRCm39)	C359S	probably damaging	Het
Rhbdd3	T	C	11: 5,055,424 (GRCm39)		probably benign	Het
Timeless	T	A	10: 128,078,255 (GRCm39)	V255E	probably benign	Het
Trh	A	T	6: 92,219,948 (GRCm39)	S123T	probably benign	Het
Ugdh	C	T	5: 65,580,035 (GRCm39)	A252T	probably damaging	Het
Zfp619	A	G	7: 39,184,288 (GRCm39)	Y106C	probably damaging	Het
Zic5	G	A	14: 122,696,924 (GRCm39)	P564S	unknown	Het

Other mutations in Tmt1b

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01705:Tmt1b	APN	10	128,794,731 (GRCm39)	missense	probably benign	0.00
R1392:Tmt1b	UTSW	10	128,796,567 (GRCm39)	missense	possibly damaging	0.90
R1392:Tmt1b	UTSW	10	128,796,567 (GRCm39)	missense	possibly damaging	0.90
R2210:Tmt1b	UTSW	10	128,794,591 (GRCm39)	missense	probably damaging	1.00
R4684:Tmt1b	UTSW	10	128,796,571 (GRCm39)	nonsense	probably null
R5075:Tmt1b	UTSW	10	128,796,549 (GRCm39)	missense	probably damaging	1.00
R8686:Tmt1b	UTSW	10	128,796,476 (GRCm39)	missense	possibly damaging	0.96
R9327:Tmt1b	UTSW	10	128,794,607 (GRCm39)	missense	probably benign	0.30
Z1176:Tmt1b	UTSW	10	128,794,617 (GRCm39)	missense	probably damaging	1.00

Posted On

2015-04-16