Mutagenetix > Incidental Mutation

Incidental Mutation 'R5244:Ttc7b'

401075

Institutional Source

Beutler Lab

Gene Symbol

Ttc7b

Ensembl Gene

ENSMUSG00000033530

Gene Name

tetratricopeptide repeat domain 7B

Synonyms

Ttc7l1

MMRRC Submission

042815-MU

Accession Numbers

Essential gene?

Possibly non essential (E-score: 0.332) question?

Stock #

R5244 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

100267029-100487085 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 100314269 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Proline at position 46 (L46P)

Ref Sequence

ENSEMBL: ENSMUSP00000152637 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000062957] [ENSMUST00000223020] [ENSMUST00000223110]

AlphaFold

E9Q6P5

Predicted Effect

possibly damaging
Transcript: ENSMUST00000062957
AA Change: L631P

PolyPhen 2 Score 0.905 (Sensitivity: 0.82; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000052107
Gene: ENSMUSG00000033530
AA Change: L631P

Domain	Start	End	E-Value	Type
TPR	397	430	8.76e-1	SMART
Blast:TPR	471	514	5e-9	BLAST
TPR	515	548	2.77e1	SMART
TPR	549	582	2.01e0	SMART
TPR	696	729	9.7e0	SMART
TPR	730	763	7.98e-4	SMART
TPR	764	797	6.1e0	SMART
TPR	798	831	2.74e-2	SMART

Predicted Effect

probably damaging
Transcript: ENSMUST00000223020
AA Change: L631P

PolyPhen 2 Score 0.972 (Sensitivity: 0.77; Specificity: 0.96)

Predicted Effect

probably damaging
Transcript: ENSMUST00000223110
AA Change: L46P

PolyPhen 2 Score 0.991 (Sensitivity: 0.71; Specificity: 0.97)

Meta Mutation Damage Score

0.1785

Coding Region Coverage

1x: 99.3%
3x: 98.6%
10x: 97.3%
20x: 95.4%

Validation Efficiency

97% (63/65)

Allele List at MGI

Other mutations in this stock

Total: 61 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930550C14Rik	G	T	9: 53,323,098 (GRCm39)	G45W	probably damaging	Het
Abca13	C	T	11: 9,225,081 (GRCm39)	T520I	probably benign	Het
Adamtsl3	C	T	7: 82,247,277 (GRCm39)	P485L	probably benign	Het
Bbof1	A	C	12: 84,476,847 (GRCm39)	E492A	possibly damaging	Het
Capn11	T	C	17: 45,944,818 (GRCm39)	E483G	probably damaging	Het
Cbs	C	T	17: 31,836,134 (GRCm39)	G438D	probably damaging	Het
Chil6	A	G	3: 106,297,290 (GRCm39)	Y284H	probably damaging	Het
Cops4	C	A	5: 100,681,241 (GRCm39)	Q131K	probably benign	Het
Cul4a	T	C	8: 13,196,566 (GRCm39)	I740T	probably damaging	Het
Cyfip1	C	T	7: 55,574,947 (GRCm39)	T1066I	probably damaging	Het
Dnah7b	T	C	1: 46,273,018 (GRCm39)	L2382P	probably damaging	Het
Ehd3	A	T	17: 74,136,995 (GRCm39)	H388L	probably benign	Het
Fam13a	G	T	6: 58,930,459 (GRCm39)	Y484*	probably null	Het
Gm5117	A	G	8: 32,228,305 (GRCm39)		noncoding transcript	Het
Gulp1	G	A	1: 44,827,613 (GRCm39)	D260N	probably damaging	Het
Hhipl1	T	A	12: 108,278,393 (GRCm39)	N240K	probably damaging	Het
Hydin	A	T	8: 111,259,451 (GRCm39)	E2474D	possibly damaging	Het
Ifi207	C	T	1: 173,557,503 (GRCm39)	V412I	probably benign	Het
Ighv9-4	T	C	12: 114,263,871 (GRCm39)	I21V	probably benign	Het
Kcnh1	A	T	1: 191,907,184 (GRCm39)	T79S	probably benign	Het
Kpna6	A	G	4: 129,549,221 (GRCm39)		probably null	Het
Lnpk	C	T	2: 74,362,232 (GRCm39)	G262D	probably damaging	Het
Lsm7	T	C	10: 80,688,907 (GRCm39)	E66G	probably benign	Het
Mbd3l1	T	A	9: 18,395,933 (GRCm39)	C19*	probably null	Het
Mfsd6l	T	A	11: 68,448,001 (GRCm39)	L284Q	possibly damaging	Het
Naip5	C	T	13: 100,382,170 (GRCm39)	V180I	probably benign	Het
Or2ag1b	T	A	7: 106,288,396 (GRCm39)	I181F	probably benign	Het
Or2j6	A	T	7: 139,980,051 (GRCm39)	C303S	probably benign	Het
Or4k39	T	A	2: 111,238,899 (GRCm39)		noncoding transcript	Het
Or6d13	T	A	6: 116,518,187 (GRCm39)	Y258N	probably damaging	Het
Or7g22	A	T	9: 19,049,147 (GRCm39)	N286I	probably damaging	Het
Or8g20	T	G	9: 39,395,808 (GRCm39)	H247P	probably damaging	Het
Or8u10	C	G	2: 85,915,300 (GRCm39)	A274P	probably damaging	Het
Pck1	T	A	2: 172,996,656 (GRCm39)	I190N	possibly damaging	Het
Pfkfb3	T	A	2: 11,489,660 (GRCm39)	I209F	probably damaging	Het
Phc1	A	G	6: 122,298,938 (GRCm39)	S677P	probably damaging	Het
Pirb	G	A	7: 3,719,062 (GRCm39)	A609V	probably benign	Het
Plag1	A	T	4: 3,903,887 (GRCm39)	S435T	probably benign	Het
Plscr2	C	G	9: 92,173,102 (GRCm39)	L215V	probably benign	Het
Pnma8a	A	G	7: 16,695,248 (GRCm39)	S368G	probably damaging	Het
Polr2b	A	G	5: 77,490,847 (GRCm39)		probably benign	Het
Pthlh	T	C	6: 147,158,651 (GRCm39)	Y103C	probably damaging	Het
Ptprq	A	G	10: 107,422,556 (GRCm39)	V1612A	possibly damaging	Het
Rprd2	T	A	3: 95,697,494 (GRCm39)	I85L	possibly damaging	Het
Slc27a2	T	C	2: 126,420,775 (GRCm39)	V422A	probably benign	Het
Slc29a1	T	C	17: 45,899,339 (GRCm39)		probably benign	Het
Slc36a4	A	T	9: 15,645,574 (GRCm39)	I334F	probably benign	Het
Slc4a10	T	A	2: 62,119,069 (GRCm39)	S761R	probably damaging	Het
Spa17	T	A	9: 37,523,285 (GRCm39)	M1L	probably damaging	Het
Srsf11	C	T	3: 157,728,981 (GRCm39)		probably benign	Het
Stk19	A	G	17: 35,051,046 (GRCm39)	L72P	probably damaging	Het
Trhde	T	C	10: 114,636,986 (GRCm39)	M74V	probably benign	Het
Trim37	C	T	11: 87,109,083 (GRCm39)	H937Y	probably benign	Het
Ttll4	T	C	1: 74,735,607 (GRCm39)	V1005A	probably benign	Het
Ugt2b36	T	C	5: 87,239,765 (GRCm39)	T207A	probably damaging	Het
Unc13c	C	T	9: 73,433,233 (GRCm39)		probably null	Het
Vmn1r221	T	C	13: 23,401,808 (GRCm39)		noncoding transcript	Het
Vmn2r101	T	C	17: 19,831,788 (GRCm39)	S595P	probably damaging	Het
Wnt10a	T	C	1: 74,842,454 (GRCm39)	L310P	probably damaging	Het
Yif1b	G	A	7: 28,943,866 (GRCm39)	A115T	probably damaging	Het
Zfp219	C	A	14: 52,245,999 (GRCm39)	R331L	possibly damaging	Het

Other mutations in Ttc7b

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00740:Ttc7b	APN	12	100,342,472 (GRCm39)	missense	probably benign	0.03
IGL01377:Ttc7b	APN	12	100,321,371 (GRCm39)	missense	probably benign	0.21
IGL01617:Ttc7b	APN	12	100,352,215 (GRCm39)	missense	possibly damaging	0.94
IGL02928:Ttc7b	APN	12	100,369,674 (GRCm39)	missense	probably damaging	1.00
IGL03183:Ttc7b	APN	12	100,339,968 (GRCm39)	splice site	probably null
IGL03341:Ttc7b	APN	12	100,291,994 (GRCm39)	missense	possibly damaging	0.66
R0302:Ttc7b	UTSW	12	100,353,438 (GRCm39)	missense	possibly damaging	0.94
R0620:Ttc7b	UTSW	12	100,466,332 (GRCm39)	splice site	probably null
R0625:Ttc7b	UTSW	12	100,321,305 (GRCm39)	missense	probably benign	0.04
R1016:Ttc7b	UTSW	12	100,369,617 (GRCm39)	missense	probably null	1.00
R1131:Ttc7b	UTSW	12	100,348,378 (GRCm39)	critical splice donor site	probably null
R1241:Ttc7b	UTSW	12	100,369,698 (GRCm39)	missense	possibly damaging	0.90
R1710:Ttc7b	UTSW	12	100,369,667 (GRCm39)	missense	probably damaging	0.98
R1803:Ttc7b	UTSW	12	100,373,261 (GRCm39)	missense	possibly damaging	0.94
R1887:Ttc7b	UTSW	12	100,381,389 (GRCm39)	splice site	probably null
R1920:Ttc7b	UTSW	12	100,381,389 (GRCm39)	splice site	probably null
R1921:Ttc7b	UTSW	12	100,381,389 (GRCm39)	splice site	probably null
R1922:Ttc7b	UTSW	12	100,381,389 (GRCm39)	splice site	probably null
R2062:Ttc7b	UTSW	12	100,291,948 (GRCm39)	missense	probably damaging	1.00
R2239:Ttc7b	UTSW	12	100,321,260 (GRCm39)	critical splice donor site	probably null
R2380:Ttc7b	UTSW	12	100,321,260 (GRCm39)	critical splice donor site	probably null
R4581:Ttc7b	UTSW	12	100,466,376 (GRCm39)	missense	probably damaging	0.99
R4582:Ttc7b	UTSW	12	100,466,376 (GRCm39)	missense	probably damaging	0.99
R4598:Ttc7b	UTSW	12	100,466,376 (GRCm39)	missense	probably damaging	0.99
R4599:Ttc7b	UTSW	12	100,466,376 (GRCm39)	missense	probably damaging	0.99
R4600:Ttc7b	UTSW	12	100,466,376 (GRCm39)	missense	probably damaging	0.99
R4601:Ttc7b	UTSW	12	100,466,376 (GRCm39)	missense	probably damaging	0.99
R4779:Ttc7b	UTSW	12	100,369,621 (GRCm39)	missense	probably damaging	1.00
R5027:Ttc7b	UTSW	12	100,268,001 (GRCm39)	missense	probably damaging	1.00
R5387:Ttc7b	UTSW	12	100,413,222 (GRCm39)	missense	possibly damaging	0.64
R5739:Ttc7b	UTSW	12	100,350,492 (GRCm39)	missense	probably damaging	1.00
R5997:Ttc7b	UTSW	12	100,339,819 (GRCm39)	missense	probably damaging	0.96
R6223:Ttc7b	UTSW	12	100,353,368 (GRCm39)	critical splice donor site	probably null
R6238:Ttc7b	UTSW	12	100,461,681 (GRCm39)	missense	probably benign	0.31
R6318:Ttc7b	UTSW	12	100,291,936 (GRCm39)	missense	probably damaging	0.99
R6494:Ttc7b	UTSW	12	100,461,666 (GRCm39)	missense	possibly damaging	0.73
R7153:Ttc7b	UTSW	12	100,321,293 (GRCm39)	missense	probably damaging	1.00
R8084:Ttc7b	UTSW	12	100,350,432 (GRCm39)	missense	probably damaging	1.00
R8132:Ttc7b	UTSW	12	100,413,131 (GRCm39)	missense	probably damaging	0.99
R8364:Ttc7b	UTSW	12	100,291,817 (GRCm39)	missense	probably benign	0.40
R8536:Ttc7b	UTSW	12	100,339,803 (GRCm39)	missense	possibly damaging	0.56
R8719:Ttc7b	UTSW	12	100,267,812 (GRCm39)	missense	probably damaging	0.99
R8932:Ttc7b	UTSW	12	100,268,022 (GRCm39)	missense	probably benign	0.00
R8992:Ttc7b	UTSW	12	100,466,433 (GRCm39)	missense	probably benign
R9674:Ttc7b	UTSW	12	100,432,553 (GRCm39)	missense	probably benign	0.24
R9731:Ttc7b	UTSW	12	100,461,683 (GRCm39)	missense	possibly damaging	0.62

Predicted Primers

PCR Primer
(F):5'- AGTGTCCAGTTATTTGCCTGAG -3'
(R):5'- CATCTCGGAAGCTCTGTTTGTG -3'

Sequencing Primer
(F):5'- TGAGGCCTCTCCCCACAC -3'
(R):5'- AAGCTCTGTTTGTGATATGCATC -3'

Posted On

2016-07-06