Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02100:Ttc12'

279711

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Ttc12

Ensembl Gene

ENSMUSG00000040219

Gene Name

tetratricopeptide repeat domain 12

Synonyms

E330017O07Rik

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.113) question?

Stock #

IGL02100

Quality Score

Status

Chromosome

Chromosomal Location

49348263-49397525 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to A at 49351482 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glycine to Tryptophan at position 672 (G672W)

Ref Sequence

ENSEMBL: ENSMUSP00000056378 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000055096]

AlphaFold

Q8BW49

Predicted Effect

probably damaging
Transcript: ENSMUST00000055096
AA Change: G672W

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

SMART Domains

Protein: ENSMUSP00000056378
Gene: ENSMUSG00000040219
AA Change: G672W

Domain	Start	End	E-Value	Type
coiled coil region	1	29	N/A	INTRINSIC
low complexity region	88	102	N/A	INTRINSIC
TPR	105	138	9.39e-1	SMART
TPR	139	172	1.97e-3	SMART
TPR	173	206	1.09e-5	SMART
low complexity region	356	368	N/A	INTRINSIC
low complexity region	602	613	N/A	INTRINSIC
Blast:ARM	634	675	1e-7	BLAST

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 48 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acad9	A	T	3: 36,136,029 (GRCm39)	Q347L	probably null	Het
Acvr2a	T	C	2: 48,788,630 (GRCm39)		probably benign	Het
Ankrd28	T	C	14: 31,449,582 (GRCm39)		probably benign	Het
Atp6v1b1	A	G	6: 83,735,426 (GRCm39)	Y498C	probably damaging	Het
Cdh3	G	A	8: 107,270,322 (GRCm39)	V400I	probably benign	Het
Chrnb1	G	T	11: 69,684,281 (GRCm39)		probably benign	Het
Col1a2	A	G	6: 4,524,177 (GRCm39)		probably benign	Het
Cyp2j7	A	G	4: 96,124,793 (GRCm39)	L35P	probably damaging	Het
Dennd2c	G	A	3: 103,060,991 (GRCm39)	S561N	probably damaging	Het
Dennd4a	A	T	9: 64,816,988 (GRCm39)		probably benign	Het
Dnai4	A	G	4: 102,907,346 (GRCm39)	C647R	probably damaging	Het
Dynll1	A	C	5: 115,436,852 (GRCm39)	V58G	probably damaging	Het
Eif3a	A	T	19: 60,755,442 (GRCm39)		probably benign	Het
Ercc6	T	C	14: 32,239,052 (GRCm39)	S47P	probably benign	Het
Fam76b	A	G	9: 13,755,416 (GRCm39)		probably benign	Het
Gbp4	T	A	5: 105,269,941 (GRCm39)		probably benign	Het
Gdi2	T	C	13: 3,606,373 (GRCm39)	F140L	probably benign	Het
Gm28043	T	C	17: 29,910,400 (GRCm39)		probably null	Het
Gm5117	T	A	8: 32,227,412 (GRCm39)		noncoding transcript	Het
Gstm6	G	T	3: 107,849,653 (GRCm39)	N85K	probably benign	Het
Hip1r	C	T	5: 124,137,006 (GRCm39)		probably benign	Het
Igf1r	T	C	7: 67,839,706 (GRCm39)	I671T	probably benign	Het
Insrr	T	G	3: 87,718,927 (GRCm39)	F961C	probably damaging	Het
Kbtbd8	T	C	6: 95,099,663 (GRCm39)	Y314H	probably damaging	Het
Kif26b	C	A	1: 178,743,512 (GRCm39)	L756I	probably damaging	Het
Lcor	G	A	19: 41,547,193 (GRCm39)	R259Q	possibly damaging	Het
Mad1l1	T	A	5: 140,129,689 (GRCm39)	S449C	probably damaging	Het
Map1a	T	G	2: 121,133,327 (GRCm39)	L1381R	probably damaging	Het
Mdn1	G	T	4: 32,715,708 (GRCm39)	V1992L	possibly damaging	Het
Pigp	G	A	16: 94,165,626 (GRCm39)	Q99*	probably null	Het
Pip4p2	T	C	4: 14,893,536 (GRCm39)	I133T	probably benign	Het
Rgs8	A	T	1: 153,568,469 (GRCm39)		probably null	Het
Rnf170	T	A	8: 26,614,012 (GRCm39)	L36H	probably damaging	Het
Rpap1	T	C	2: 119,599,807 (GRCm39)	S1004G	probably benign	Het
Rpl10a-ps2	T	C	13: 8,990,779 (GRCm39)		probably benign	Het
Ryr2	T	A	13: 11,752,759 (GRCm39)	E1854V	possibly damaging	Het
Scn7a	T	G	2: 66,505,843 (GRCm39)	*1682S	probably null	Het
Sema3d	A	G	5: 12,634,958 (GRCm39)	T675A	probably benign	Het
Slc1a2	T	C	2: 102,586,434 (GRCm39)	F346S	probably damaging	Het
St14	G	T	9: 31,011,426 (GRCm39)		probably benign	Het
Stard5	T	C	7: 83,289,653 (GRCm39)	V173A	possibly damaging	Het
Taf1b	A	G	12: 24,594,394 (GRCm39)	Y309C	possibly damaging	Het
Tet1	T	C	10: 62,648,507 (GRCm39)	N1975S	possibly damaging	Het
Them5	T	A	3: 94,251,782 (GRCm39)	I131N	probably damaging	Het
Tnc	A	C	4: 63,918,398 (GRCm39)	V1171G	possibly damaging	Het
Usp8	T	C	2: 126,579,774 (GRCm39)		probably benign	Het
Utp4	A	G	8: 107,624,807 (GRCm39)	N92S	probably benign	Het
Was	A	T	X: 7,956,554 (GRCm39)	F38L	possibly damaging	Het

Other mutations in Ttc12

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00326:Ttc12	APN	9	49,382,506 (GRCm39)	splice site	probably null
IGL01300:Ttc12	APN	9	49,359,222 (GRCm39)	splice site	probably benign
IGL03106:Ttc12	APN	9	49,369,362 (GRCm39)	missense	possibly damaging	0.75
I2288:Ttc12	UTSW	9	49,381,558 (GRCm39)	missense	possibly damaging	0.62
R1238:Ttc12	UTSW	9	49,369,487 (GRCm39)	splice site	probably benign
R1712:Ttc12	UTSW	9	49,356,499 (GRCm39)	missense	probably benign
R1725:Ttc12	UTSW	9	49,369,415 (GRCm39)	missense	probably benign	0.08
R1824:Ttc12	UTSW	9	49,368,184 (GRCm39)	missense	probably damaging	1.00
R1916:Ttc12	UTSW	9	49,371,698 (GRCm39)	missense	probably damaging	1.00
R2226:Ttc12	UTSW	9	49,353,135 (GRCm39)	critical splice donor site	probably null
R4498:Ttc12	UTSW	9	49,383,705 (GRCm39)	missense	probably damaging	1.00
R5920:Ttc12	UTSW	9	49,364,633 (GRCm39)	missense	possibly damaging	0.48
R6020:Ttc12	UTSW	9	49,354,422 (GRCm39)	missense	probably damaging	0.96
R6687:Ttc12	UTSW	9	49,349,718 (GRCm39)	missense	probably benign	0.08
R6755:Ttc12	UTSW	9	49,364,646 (GRCm39)	missense	probably benign	0.00
R6975:Ttc12	UTSW	9	49,349,718 (GRCm39)	missense	probably benign	0.08
R7349:Ttc12	UTSW	9	49,359,267 (GRCm39)	missense	possibly damaging	0.94
R7357:Ttc12	UTSW	9	49,349,687 (GRCm39)	missense	probably benign	0.02
R7451:Ttc12	UTSW	9	49,383,179 (GRCm39)	missense	probably benign	0.00
R7725:Ttc12	UTSW	9	49,351,602 (GRCm39)	missense	probably benign	0.00
R7842:Ttc12	UTSW	9	49,349,724 (GRCm39)	missense	possibly damaging	0.80
R7943:Ttc12	UTSW	9	49,381,620 (GRCm39)	missense	possibly damaging	0.53
R8029:Ttc12	UTSW	9	49,381,551 (GRCm39)	missense	possibly damaging	0.83
R8862:Ttc12	UTSW	9	49,351,515 (GRCm39)	missense	probably benign	0.10
R8965:Ttc12	UTSW	9	49,349,718 (GRCm39)	missense	probably benign	0.08
R9116:Ttc12	UTSW	9	49,364,757 (GRCm39)	missense	probably benign
R9342:Ttc12	UTSW	9	49,351,680 (GRCm39)	missense	probably benign	0.00
R9762:Ttc12	UTSW	9	49,368,166 (GRCm39)	missense	probably damaging	0.99

Posted On

2015-04-16