Mutagenetix > Incidental Mutation

Incidental Mutation 'R2210:Tmt1b'

239324

Institutional Source

Beutler Lab

Gene Symbol

Tmt1b

Ensembl Gene

ENSMUSG00000025347

Gene Name

thiol methyltransferase 1B

Synonyms

Mettl7b, 0610006F02Rik

MMRRC Submission

040212-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R2210 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

128794146-128796857 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 128794591 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Lysine to Asparagine at position 244 (K244N)

Ref Sequence

ENSEMBL: ENSMUSP00000026398 (fasta)

Gene Model

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

AlphaFold

Q9DD20

Predicted Effect

probably damaging
Transcript: ENSMUST00000026398
AA Change: K244N

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

SMART Domains

Protein: ENSMUSP00000026398
Gene: ENSMUSG00000025347
AA Change: K244N

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000219897

Coding Region Coverage

1x: 99.1%
3x: 98.5%
10x: 97.2%
20x: 95.0%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 33 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2210016L21Rik	C	G	5: 115,080,348 (GRCm39)	R28G	probably damaging	Het
Adgrb1	C	T	15: 74,419,553 (GRCm39)	A798V	probably damaging	Het
Ash1l	G	T	3: 88,973,605 (GRCm39)	D2555Y	probably damaging	Het
Atr	G	A	9: 95,789,353 (GRCm39)	R1503Q	probably damaging	Het
Cbln3	T	A	14: 56,121,383 (GRCm39)	I88F	possibly damaging	Het
Cct7	G	A	6: 85,436,212 (GRCm39)	G41D	probably damaging	Het
Cd1d2	G	T	3: 86,895,041 (GRCm39)	A138S	possibly damaging	Het
Dct	T	C	14: 118,280,561 (GRCm39)	I152V	probably benign	Het
Dgkq	C	A	5: 108,808,389 (GRCm39)	R58L	probably damaging	Het
Emc10	G	A	7: 44,142,616 (GRCm39)	R109W	probably damaging	Het
Gm4884	A	T	7: 40,692,970 (GRCm39)	E313V	possibly damaging	Het
Hectd1	A	T	12: 51,853,245 (GRCm39)	I92K	probably damaging	Het
Icam1	A	G	9: 20,930,329 (GRCm39)	E61G	probably damaging	Het
Itgb2l	C	T	16: 96,227,421 (GRCm39)	V541M	possibly damaging	Het
Lmtk2	A	G	5: 144,084,427 (GRCm39)	E154G	probably damaging	Het
Majin	C	A	19: 6,272,728 (GRCm39)	H223N	possibly damaging	Het
Mc4r	A	T	18: 66,992,466 (GRCm39)	F216I	probably damaging	Het
Muc4	AG	AGG	16: 32,755,176 (GRCm38)		probably null	Het
Obscn	A	T	11: 58,958,913 (GRCm39)	V3379D	probably damaging	Het
Or8g30	A	T	9: 39,230,089 (GRCm39)	S274T	probably damaging	Het
Pde4b	A	T	4: 102,454,672 (GRCm39)	N346I	probably damaging	Het
Pitpnm1	T	C	19: 4,155,253 (GRCm39)	S331P	probably damaging	Het
Plcb2	T	A	2: 118,547,984 (GRCm39)	I437F	probably damaging	Het
Pramel14	T	A	4: 143,720,789 (GRCm39)	M51L	probably benign	Het
Prr12	A	G	7: 44,698,775 (GRCm39)		probably benign	Het
Pus7l	T	G	15: 94,438,173 (GRCm39)	D224A	possibly damaging	Het
Sh3pxd2a	A	G	19: 47,255,782 (GRCm39)	S1007P	possibly damaging	Het
Stac	G	A	9: 111,431,638 (GRCm39)	P238S	probably damaging	Het
Tmem107	A	G	11: 68,962,096 (GRCm39)	E45G	possibly damaging	Het
Triml2	T	C	8: 43,636,397 (GRCm39)	Y61H	probably damaging	Het
Uba2	T	C	7: 33,862,587 (GRCm39)	D95G	probably damaging	Het
Ube2d3	T	A	3: 135,168,802 (GRCm39)	D132E	probably benign	Het
Unc5d	A	G	8: 29,251,825 (GRCm39)	I216T	probably damaging	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
IGL02157:Tmt1b	APN	10	128,796,486 (GRCm39)	missense	possibly damaging	0.82
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
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

Predicted Primers

PCR Primer
(F):5'- AGTCCAGGGCTTAGCAGTGTAG -3'
(R):5'- ACTGTTCTTCTGGGAGCACG -3'

Sequencing Primer
(F):5'- GTTTTCTGTCTCTAGTGGCCGAAAC -3'
(R):5'- TGAGCCTCAGGGAAGCC -3'

Posted On

2014-10-15