Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL03106:Ttc12'

418956

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 #

IGL03106

Quality Score

Status

Chromosome

Chromosomal Location

49348263-49397525 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 49369362 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Lysine to Glutamic Acid at position 253 (K253E)

Ref Sequence

ENSEMBL: ENSMUSP00000056378 (fasta)

Gene Model

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

AlphaFold

Q8BW49

Predicted Effect

possibly damaging
Transcript: ENSMUST00000055096
AA Change: K253E

PolyPhen 2 Score 0.752 (Sensitivity: 0.85; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000056378
Gene: ENSMUSG00000040219
AA Change: K253E

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000146666

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 52 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adam3	G	T	8: 25,205,135 (GRCm39)		probably benign	Het
Adgrv1	T	C	13: 81,621,018 (GRCm39)	N3911S	probably benign	Het
Alox12b	C	T	11: 69,059,702 (GRCm39)	Q585*	probably null	Het
Amtn	A	G	5: 88,525,944 (GRCm39)	Q36R	probably benign	Het
Arg2	G	A	12: 79,196,665 (GRCm39)	G129S	probably damaging	Het
Arhgef28	A	C	13: 98,094,301 (GRCm39)	Y948D	probably damaging	Het
Atp10b	T	C	11: 43,138,304 (GRCm39)	V1195A	probably benign	Het
Bet1l	G	T	7: 140,434,523 (GRCm39)	T42K	probably benign	Het
Cabin1	G	A	10: 75,569,462 (GRCm39)	T875I	probably benign	Het
Ccdc17	A	G	4: 116,454,033 (GRCm39)		probably null	Het
Crebrf	A	G	17: 26,990,293 (GRCm39)	E612G	probably damaging	Het
Cyp2c67	A	T	19: 39,632,119 (GRCm39)	M83K	probably benign	Het
Dgkz	A	G	2: 91,771,204 (GRCm39)	S414P	probably damaging	Het
Dock10	G	T	1: 80,546,551 (GRCm39)	H411N	probably damaging	Het
Dpyd	A	T	3: 118,988,783 (GRCm39)	T749S	probably benign	Het
Dsc1	C	T	18: 20,219,701 (GRCm39)		probably null	Het
Echdc1	A	T	10: 29,198,276 (GRCm39)	M74L	probably damaging	Het
Edn1	C	A	13: 42,458,499 (GRCm39)	T104K	possibly damaging	Het
Fat2	T	A	11: 55,202,727 (GRCm39)	T116S	probably benign	Het
Fcrl5	A	T	3: 87,343,190 (GRCm39)		probably null	Het
Fpgt	C	T	3: 154,792,759 (GRCm39)	G423R	probably damaging	Het
Gprc5b	A	T	7: 118,583,416 (GRCm39)	V151E	probably damaging	Het
Grm5	A	G	7: 87,685,278 (GRCm39)	Y465C	probably damaging	Het
Idh3b	T	A	2: 130,126,321 (GRCm39)	N6I	probably benign	Het
Ighmbp2	T	C	19: 3,323,022 (GRCm39)	K308R	possibly damaging	Het
Lrch1	A	T	14: 75,073,202 (GRCm39)	S146T	possibly damaging	Het
Lyl1	C	T	8: 85,429,300 (GRCm39)	P3L	possibly damaging	Het
Mterf3	T	C	13: 67,078,221 (GRCm39)	K16R	probably damaging	Het
Ncapg	T	A	5: 45,853,010 (GRCm39)	H825Q	probably damaging	Het
Or2t1	G	A	14: 14,328,851 (GRCm38)	V247I	probably damaging	Het
Or2y1f	T	A	11: 49,184,988 (GRCm39)	I280N	probably damaging	Het
Or4d5	A	G	9: 40,012,030 (GRCm39)	V252A	probably damaging	Het
Or5b95	G	A	19: 12,658,287 (GRCm39)	V272M	possibly damaging	Het
Or5t15	A	C	2: 86,681,958 (GRCm39)	L28R	possibly damaging	Het
Or5w15	A	T	2: 87,568,462 (GRCm39)	S69T	probably benign	Het
Pald1	A	T	10: 61,182,884 (GRCm39)	M355K	probably benign	Het
Phc1	A	G	6: 122,300,428 (GRCm39)		probably benign	Het
Phkb	T	A	8: 86,745,095 (GRCm39)		probably benign	Het
Pkn3	G	T	2: 29,975,257 (GRCm39)	R506L	probably damaging	Het
Plod2	T	C	9: 92,455,620 (GRCm39)	Y100H	probably damaging	Het
Prl7b1	G	T	13: 27,790,918 (GRCm39)	Q56K	probably benign	Het
Rhot1	T	A	11: 80,133,407 (GRCm39)	C229*	probably null	Het
Sema3a	G	A	5: 13,649,456 (GRCm39)	R735Q	probably damaging	Het
Slc18b1	A	G	10: 23,702,557 (GRCm39)	*460W	probably null	Het
Slco6c1	T	A	1: 96,993,748 (GRCm39)		probably benign	Het
Slu7	T	A	11: 43,333,457 (GRCm39)	V359D	possibly damaging	Het
Suco	T	C	1: 161,662,049 (GRCm39)	Y794C	possibly damaging	Het
Sult3a2	T	C	10: 33,655,769 (GRCm39)	N70S	probably benign	Het
Taar2	A	T	10: 23,817,195 (GRCm39)	D245V	probably damaging	Het
Taf1d	A	G	9: 15,221,237 (GRCm39)	H181R	possibly damaging	Het
Tmem33	T	C	5: 67,421,139 (GRCm39)	S38P	probably damaging	Het
Traf3ip1	T	C	1: 91,450,609 (GRCm39)	S519P	probably benign	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
IGL02100:Ttc12	APN	9	49,351,482 (GRCm39)	missense	probably damaging	1.00
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

2016-08-02