Mutagenetix > Incidental Mutation

Incidental Mutation 'R0302:Ttc7b'

24863

Institutional Source

Beutler Lab

Gene Symbol

Ttc7b

Ensembl Gene

ENSMUSG00000033530

Gene Name

tetratricopeptide repeat domain 7B

Synonyms

Ttc7l1

MMRRC Submission

038514-MU

Accession Numbers

Essential gene?

Possibly non essential (E-score: 0.353) question?

Stock #

R0302 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

100267029-100487085 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 100353438 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Methionine to Valine at position 390 (M390V)

Ref Sequence

ENSEMBL: ENSMUSP00000052107 (fasta)

Gene Model

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

AlphaFold

E9Q6P5

Predicted Effect

possibly damaging
Transcript: ENSMUST00000062957
AA Change: M390V

PolyPhen 2 Score 0.941 (Sensitivity: 0.80; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000052107
Gene: ENSMUSG00000033530
AA Change: M390V

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

noncoding transcript
Transcript: ENSMUST00000221975

Predicted Effect

possibly damaging
Transcript: ENSMUST00000223020
AA Change: M390V

PolyPhen 2 Score 0.936 (Sensitivity: 0.80; Specificity: 0.94)

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000223514

Meta Mutation Damage Score

0.1481

Coding Region Coverage

1x: 98.8%
3x: 97.8%
10x: 95.1%
20x: 89.5%

Validation Efficiency

100% (63/63)

Allele List at MGI

Other mutations in this stock

Total: 63 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adprs	T	C	4: 126,211,185 (GRCm39)	E244G	probably benign	Het
Aldh1l2	G	A	10: 83,356,229 (GRCm39)	P54S	probably damaging	Het
Ankdd1a	G	A	9: 65,416,924 (GRCm39)		probably benign	Het
Ankra2	T	A	13: 98,408,200 (GRCm39)	S216R	probably damaging	Het
Asah2	A	T	19: 32,030,356 (GRCm39)	N105K	probably benign	Het
Ass1	A	T	2: 31,404,831 (GRCm39)	N371Y	probably damaging	Het
Cacna1s	A	G	1: 136,028,342 (GRCm39)	Y893C	probably benign	Het
Capza2	G	A	6: 17,648,523 (GRCm39)	R15H	probably benign	Het
Cbfa2t2	T	C	2: 154,376,796 (GRCm39)		probably benign	Het
Ccdc96	A	T	5: 36,643,445 (GRCm39)	T484S	possibly damaging	Het
Cckar	GCTTAGCCTCTTCT	GCT	5: 53,857,641 (GRCm39)		probably null	Het
Ccl4	T	A	11: 83,554,280 (GRCm39)		probably benign	Het
Cpt1b	A	G	15: 89,302,073 (GRCm39)	Y702H	probably benign	Het
Cr1l	G	A	1: 194,800,101 (GRCm39)	T153I	probably damaging	Het
Cyth2	C	A	7: 45,460,009 (GRCm39)	E57*	probably null	Het
Daxx	T	A	17: 34,132,594 (GRCm39)	S575T	probably damaging	Het
Depdc5	T	C	5: 33,061,890 (GRCm39)		probably benign	Het
Dnah12	A	G	14: 26,521,956 (GRCm39)	D1923G	probably damaging	Het
Dnah7b	A	G	1: 46,162,937 (GRCm39)	T428A	probably benign	Het
Dnm2	G	T	9: 21,411,639 (GRCm39)	A619S	probably benign	Het
Enpp2	T	C	15: 54,723,457 (GRCm39)	T639A	probably benign	Het
Epsti1	A	T	14: 78,177,366 (GRCm39)	H182L	probably damaging	Het
Exoc3l	C	T	8: 106,020,175 (GRCm39)	R250Q	probably benign	Het
Ggn	G	T	7: 28,870,665 (GRCm39)		probably null	Het
Il1rap	A	G	16: 26,511,544 (GRCm39)	N196S	probably benign	Het
Ints6	T	C	14: 62,946,961 (GRCm39)	T335A	probably damaging	Het
Itga1	G	A	13: 115,148,854 (GRCm39)		probably benign	Het
Kifc3	G	T	8: 95,830,098 (GRCm39)	Q557K	possibly damaging	Het
Krt23	A	G	11: 99,369,027 (GRCm39)	I422T	probably benign	Het
Lcn2	A	G	2: 32,274,901 (GRCm39)		probably benign	Het
Lonp2	A	G	8: 87,364,619 (GRCm39)	T326A	possibly damaging	Het
Lrpprc	T	C	17: 85,047,506 (GRCm39)	I909V	possibly damaging	Het
Lrrc14	G	T	15: 76,598,552 (GRCm39)	R396L	probably benign	Het
Lypd6	T	G	2: 50,055,679 (GRCm39)		probably benign	Het
Man2b1	A	G	8: 85,819,645 (GRCm39)	N610S	probably damaging	Het
Map2	A	T	1: 66,453,987 (GRCm39)	N959I	probably benign	Het
Mctp2	C	T	7: 71,740,012 (GRCm39)	V793I	possibly damaging	Het
Med25	A	C	7: 44,529,982 (GRCm39)		probably benign	Het
Mfsd6	T	C	1: 52,748,616 (GRCm39)	Y83C	probably damaging	Het
Mtbp	A	T	15: 55,488,820 (GRCm39)	M499L	probably damaging	Het
Mtmr10	A	T	7: 63,947,245 (GRCm39)	K53N	probably damaging	Het
Nfat5	T	C	8: 108,085,333 (GRCm39)	I542T	probably damaging	Het
Nr1h3	A	G	2: 91,022,358 (GRCm39)	M90T	probably damaging	Het
Nsmce4a	A	G	7: 130,147,623 (GRCm39)		probably benign	Het
Oprl1	G	A	2: 181,361,021 (GRCm39)	C318Y	probably benign	Het
Or5d40	T	A	2: 88,015,854 (GRCm39)	I211N	possibly damaging	Het
Pbx3	A	T	2: 34,114,572 (GRCm39)	S46T	probably benign	Het
Pign	A	T	1: 105,516,818 (GRCm39)	F575I	possibly damaging	Het
Ptpn13	G	T	5: 103,713,091 (GRCm39)	S1738I	probably benign	Het
Rnf126	G	T	10: 79,595,057 (GRCm39)	P269Q	probably damaging	Het
Ryr3	G	A	2: 112,477,468 (GRCm39)		probably benign	Het
Slc2a7	C	T	4: 150,233,978 (GRCm39)	A31V	probably damaging	Het
Slc6a12	A	G	6: 121,340,218 (GRCm39)	D487G	probably damaging	Het
Son	G	T	16: 91,453,032 (GRCm39)	G593V	probably damaging	Het
Spata31d1a	T	C	13: 59,850,964 (GRCm39)	N388S	probably benign	Het
Spg11	A	T	2: 121,922,668 (GRCm39)	M927K	possibly damaging	Het
Taf13	A	G	3: 108,479,038 (GRCm39)	M1V	probably null	Het
Trim32	G	A	4: 65,531,491 (GRCm39)	R16Q	probably damaging	Het
Trio	A	G	15: 27,902,603 (GRCm39)	F286S	probably damaging	Het
Trpm2	A	C	10: 77,779,824 (GRCm39)		probably benign	Het
Vmn1r184	A	T	7: 25,966,968 (GRCm39)	Q238L	probably damaging	Het
Zfp236	T	C	18: 82,676,213 (GRCm39)	E368G	probably damaging	Het
Zfr2	G	T	10: 81,087,170 (GRCm39)		probably benign	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
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
R5244:Ttc7b	UTSW	12	100,314,269 (GRCm39)	missense	probably damaging	0.99
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'- ACCATGAACAATGCACACGAGTGAG -3'
(R):5'- TTGGTGCTTCTGTGACAGCCTC -3'

Sequencing Primer
(F):5'- GACCCTAAATAAATGTGGTGGTCC -3'
(R):5'- GAGCAAAACTGCTCTCATGTCTG -3'

Posted On

2013-04-16