Mutagenetix > Incidental Mutation

Incidental Mutation 'R7725:Ttc12'

595449

Institutional Source

Beutler Lab

Gene Symbol

Ttc12

Ensembl Gene

ENSMUSG00000040219

Gene Name

tetratricopeptide repeat domain 12

Synonyms

E330017O07Rik

MMRRC Submission

045781-MU

Accession Numbers

Essential gene?

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

Stock #

R7725 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

49348263-49397525 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 49351602 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Methionine to Leucine at position 632 (M632L)

Ref Sequence

ENSEMBL: ENSMUSP00000056378 (fasta)

Gene Model

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

AlphaFold

Q8BW49

Predicted Effect

probably benign
Transcript: ENSMUST00000055096
AA Change: M632L

PolyPhen 2 Score 0.005 (Sensitivity: 0.97; Specificity: 0.74)

SMART Domains

Protein: ENSMUSP00000056378
Gene: ENSMUSG00000040219
AA Change: M632L

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

Meta Mutation Damage Score

0.0626

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 99.3%

Validation Efficiency

100% (41/41)

Allele List at MGI

Other mutations in this stock

Total: 44 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Anxa2	A	T	9: 69,387,410 (GRCm39)	K6N	unknown	Het
Arhgap20	T	A	9: 51,743,050 (GRCm39)	M296K	possibly damaging	Het
Bdh1	G	A	16: 31,256,910 (GRCm39)	V20I	not run	Het
Bop1	A	G	15: 76,339,583 (GRCm39)	I254T	probably benign	Het
C1ra	G	A	6: 124,494,684 (GRCm39)	E316K	probably benign	Het
Cct4	A	G	11: 22,940,814 (GRCm39)	K21E	probably benign	Het
Cercam	G	A	2: 29,762,574 (GRCm39)		probably null	Het
Clip2	A	T	5: 134,546,853 (GRCm39)	Y238*	probably null	Het
Col19a1	A	T	1: 24,309,525 (GRCm39)	S1043T	possibly damaging	Het
Ctcf	A	G	8: 106,390,468 (GRCm39)	Y25C	probably damaging	Het
Dennd4c	C	T	4: 86,704,330 (GRCm39)	R282C	probably benign	Het
Eef1g	T	A	19: 8,955,427 (GRCm39)	H425Q	probably benign	Het
Fam131b	C	T	6: 42,295,476 (GRCm39)	A234T	probably benign	Het
Fam184a	C	A	10: 53,509,802 (GRCm39)	E126*	probably null	Het
Fam187b	A	G	7: 30,677,139 (GRCm39)	D216G	possibly damaging	Het
Gabra1	A	T	11: 42,026,270 (GRCm39)	Y341N	possibly damaging	Het
Glb1l3	T	A	9: 26,739,659 (GRCm39)		probably null	Het
Gm3667	T	A	14: 18,271,599 (GRCm39)	Q52L	probably damaging	Het
Gpr179	C	T	11: 97,242,118 (GRCm39)	R242H	probably damaging	Het
Gulo	T	C	14: 66,245,522 (GRCm39)	Y24C	probably damaging	Het
Hectd4	A	T	5: 121,358,680 (GRCm39)	E49V	unknown	Het
Htra4	A	G	8: 25,527,169 (GRCm39)	S209P	possibly damaging	Het
Lmntd1	A	G	6: 145,489,196 (GRCm39)	S22P	probably benign	Het
Lypd8l	A	T	11: 58,499,325 (GRCm39)	N164K	probably benign	Het
Med12l	A	G	3: 59,163,413 (GRCm39)	K1347E	probably damaging	Het
Mrc1	C	A	2: 14,284,788 (GRCm39)	D592E	probably benign	Het
Muc15	A	G	2: 110,562,143 (GRCm39)	D193G	probably damaging	Het
Ncor2	A	G	5: 125,100,630 (GRCm39)	V1316A		Het
Odad1	T	A	7: 45,597,835 (GRCm39)	S582T	probably damaging	Het
Or2t43	A	G	11: 58,457,593 (GRCm39)	Y193H	probably damaging	Het
Or2y10	A	T	11: 49,455,359 (GRCm39)	I204L	probably benign	Het
Or5t16	T	C	2: 86,819,323 (GRCm39)	I66V	probably benign	Het
Serpina6	A	T	12: 103,614,936 (GRCm39)	Y303*	probably null	Het
Shld2	T	G	14: 33,990,661 (GRCm39)	T82P	possibly damaging	Het
Shroom3	T	C	5: 93,089,512 (GRCm39)	L754P	probably benign	Het
Skint5	C	A	4: 113,685,099 (GRCm39)	L539F	unknown	Het
St3gal4	C	A	9: 34,964,375 (GRCm39)	R209L	possibly damaging	Het
Tex14	A	C	11: 87,385,868 (GRCm39)	T243P	probably damaging	Het
Ttn	T	C	2: 76,738,116 (GRCm39)	E4187G	unknown	Het
Txk	G	A	5: 72,864,900 (GRCm39)	A379V	probably damaging	Het
Wdr43	A	G	17: 71,923,338 (GRCm39)	Y28C	probably benign	Het
Zfp1005	A	G	2: 150,110,468 (GRCm39)	Y386C	unknown	Het
Zfp40	A	G	17: 23,397,251 (GRCm39)	V82A	probably benign	Het
Zfp994	A	T	17: 22,419,091 (GRCm39)	N619K	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
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
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

Predicted Primers

PCR Primer
(F):5'- ACAGTGCTTGGTTTGCCCTG -3'
(R):5'- TTCTGAAGAAGCTTGCCATCC -3'

Sequencing Primer
(F):5'- TCTGAGATGTTATCACCACTTGG -3'
(R):5'- AGCTTGCCATCCACCCCG -3'

Posted On

2019-11-12