Mutagenetix > Incidental Mutation

Incidental Mutation 'R4600:Ttc7b'

345559

Institutional Source

Beutler Lab

Gene Symbol

Ttc7b

Ensembl Gene

ENSMUSG00000033530

Gene Name

tetratricopeptide repeat domain 7B

Synonyms

Ttc7l1

Accession Numbers

Essential gene?

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

Stock #

R4600 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

100267029-100487085 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 100466376 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Cysteine at position 79 (R79C)

Ref Sequence

ENSEMBL: ENSMUSP00000152299 (fasta)

Gene Model

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

AlphaFold

E9Q6P5

Predicted Effect

probably damaging
Transcript: ENSMUST00000062957
AA Change: R79C

PolyPhen 2 Score 0.981 (Sensitivity: 0.75; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000052107
Gene: ENSMUSG00000033530
AA Change: R79C

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: ENSMUST00000220614

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000222036

Predicted Effect

probably damaging
Transcript: ENSMUST00000223020
AA Change: R79C

PolyPhen 2 Score 0.989 (Sensitivity: 0.72; Specificity: 0.97)

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000223444

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.2%
20x: 95.1%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 94 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2700049A03Rik	T	C	12: 71,195,037 (GRCm39)	F145L	possibly damaging	Het
Aars2	T	A	17: 45,827,847 (GRCm39)	D555E	probably damaging	Het
Ago1	C	A	4: 126,354,185 (GRCm39)	M208I	probably benign	Het
Ak7	G	A	12: 105,679,834 (GRCm39)	V123M	probably benign	Het
Amfr	A	G	8: 94,700,849 (GRCm39)	L537P	probably damaging	Het
Apob	A	G	12: 8,058,568 (GRCm39)	D2317G	probably damaging	Het
Asb6	T	A	2: 30,714,483 (GRCm39)	D209V	probably damaging	Het
AY358078	T	A	14: 52,063,532 (GRCm39)	C393S	possibly damaging	Het
Baz2a	T	A	10: 127,957,052 (GRCm39)	C932S	probably damaging	Het
Btnl10	A	G	11: 58,814,426 (GRCm39)	I369V	probably benign	Het
Ccdc66	T	C	14: 27,222,377 (GRCm39)	N122S	probably damaging	Het
Cfap96	A	T	8: 46,423,505 (GRCm39)	I69N	probably damaging	Het
Clic4	A	T	4: 134,966,300 (GRCm39)		probably null	Het
Col6a3	A	G	1: 90,709,626 (GRCm39)	S1857P	unknown	Het
Cracr2a	A	C	6: 127,580,851 (GRCm39)	D9A	probably benign	Het
Cspg4b	A	G	13: 113,455,783 (GRCm39)	R610G	possibly damaging	Het
Dcst1	T	C	3: 89,263,643 (GRCm39)	E384G	probably benign	Het
Ddx4	T	C	13: 112,748,594 (GRCm39)	K435E	probably damaging	Het
Deaf1	T	A	7: 140,890,884 (GRCm39)	T433S	possibly damaging	Het
Dnah3	T	A	7: 119,689,169 (GRCm39)	M82L	probably benign	Het
Dnhd1	G	T	7: 105,352,851 (GRCm39)	R2668L	probably damaging	Het
Efcab6	C	T	15: 83,831,126 (GRCm39)	G596D	probably benign	Het
Ercc3	G	A	18: 32,378,624 (GRCm39)	A202T	probably benign	Het
Fam181b	C	A	7: 92,729,992 (GRCm39)	A255E	possibly damaging	Het
Fam83e	T	A	7: 45,372,924 (GRCm39)	D178E	probably benign	Het
Frem2	A	G	3: 53,455,228 (GRCm39)	L2116S	possibly damaging	Het
Gm16494	T	A	17: 47,327,723 (GRCm39)	K54*	probably null	Het
Golgb1	A	G	16: 36,738,987 (GRCm39)	D2442G	probably damaging	Het
Greb1l	G	A	18: 10,553,705 (GRCm39)	A1569T	probably damaging	Het
Grik5	C	G	7: 24,767,489 (GRCm39)	E64Q	probably damaging	Het
Gstm5	A	G	3: 107,805,302 (GRCm39)	Y130C	probably damaging	Het
Gucy2e	C	G	11: 69,126,994 (GRCm39)	A160P	possibly damaging	Het
Hydin	A	T	8: 111,293,582 (GRCm39)	T3510S	probably benign	Het
Ift70a1	T	C	2: 75,810,977 (GRCm39)	T369A	probably benign	Het
Itgb2	A	G	10: 77,381,949 (GRCm39)	I84V	probably benign	Het
Itsn1	A	G	16: 91,696,475 (GRCm39)	Q26R	probably damaging	Het
Kat6a	A	G	8: 23,429,327 (GRCm39)	S1561G	probably benign	Het
Khnyn	G	A	14: 56,124,438 (GRCm39)	V231I	probably benign	Het
Kif21b	A	G	1: 136,075,602 (GRCm39)	D243G	probably benign	Het
Klk4	T	A	7: 43,534,762 (GRCm39)	N240K	probably damaging	Het
Knl1	T	C	2: 118,901,025 (GRCm39)	S909P	possibly damaging	Het
Lamb1	A	C	12: 31,373,528 (GRCm39)	D1419A	probably benign	Het
Lin9	T	A	1: 180,508,759 (GRCm39)	V421D	probably damaging	Het
Lipt2	T	C	7: 99,809,519 (GRCm39)	L202P	probably benign	Het
Mbd5	T	G	2: 49,147,209 (GRCm39)	M473R	probably benign	Het
Mcc	A	T	18: 44,652,587 (GRCm39)	I279N	probably damaging	Het
Mcpt9	C	T	14: 56,266,049 (GRCm39)	V60M	probably damaging	Het
Mrc2	G	A	11: 105,239,257 (GRCm39)		probably null	Het
Mslnl	G	A	17: 25,961,908 (GRCm39)	V128M	probably damaging	Het
Mylk2	G	A	2: 152,759,476 (GRCm39)	V389M	probably damaging	Het
Ndufs7	T	A	10: 80,092,501 (GRCm39)	Y203*	probably null	Het
Nup160	T	A	2: 90,515,541 (GRCm39)		probably null	Het
Nup88	G	A	11: 70,860,522 (GRCm39)	R62*	probably null	Het
Or2g7	T	C	17: 38,378,853 (GRCm39)	S264P	probably damaging	Het
Or51af1	T	A	7: 103,141,788 (GRCm39)	Q99L	probably damaging	Het
Or6c207	G	A	10: 129,104,274 (GRCm39)	A306V	probably benign	Het
Or8b8	T	A	9: 37,809,622 (GRCm39)	S307R	probably benign	Het
Or8g33	A	G	9: 39,337,731 (GRCm39)	M212T	probably benign	Het
Os9	T	C	10: 126,934,223 (GRCm39)	N471S	probably benign	Het
Otof	C	T	5: 30,529,244 (GRCm39)	V1757M	probably damaging	Het
Pakap	A	T	4: 57,709,954 (GRCm39)	T300S	probably benign	Het
Pald1	T	C	10: 61,184,395 (GRCm39)	T241A	probably benign	Het
Pappa2	G	A	1: 158,642,015 (GRCm39)	S1347L	probably damaging	Het
Pccb	T	C	9: 100,916,832 (GRCm39)	T27A	probably benign	Het
Pde4dip	A	T	3: 97,603,260 (GRCm39)	V2243D	probably damaging	Het
Pkd2l2	C	A	18: 34,571,254 (GRCm39)	Q590K	probably benign	Het
Pmepa1	G	A	2: 173,070,120 (GRCm39)	P145L	possibly damaging	Het
Ppp3cb	T	C	14: 20,570,714 (GRCm39)	N339S	possibly damaging	Het
Rnf133	T	C	6: 23,649,041 (GRCm39)	E296G	possibly damaging	Het
Secisbp2l	C	T	2: 125,582,657 (GRCm39)	G933D	possibly damaging	Het
Serpinb12	T	A	1: 106,876,883 (GRCm39)	D66E	probably benign	Het
Slc35e2	T	C	4: 155,702,106 (GRCm39)	F290S	probably benign	Het
Slc46a2	C	T	4: 59,911,886 (GRCm39)	C442Y	probably damaging	Het
Slc7a1	A	G	5: 148,278,869 (GRCm39)	L301P	probably damaging	Het
Spg21	A	G	9: 65,383,257 (GRCm39)	T148A	probably benign	Het
Stox2	A	G	8: 47,645,970 (GRCm39)	S497P	probably damaging	Het
Sult1c2	C	A	17: 54,280,983 (GRCm39)	W40L	probably benign	Het
Sytl2	T	C	7: 90,024,977 (GRCm39)	S322P	probably benign	Het
Telo2	C	A	17: 25,324,122 (GRCm39)	R531L	possibly damaging	Het
Thbs3	T	C	3: 89,131,897 (GRCm39)	V719A	probably damaging	Het
Tlr9	T	A	9: 106,101,732 (GRCm39)	L341Q	probably damaging	Het
Tmprss5	A	G	9: 49,024,548 (GRCm39)	N230D	possibly damaging	Het
Tns2	C	T	15: 102,017,369 (GRCm39)	R281C	probably damaging	Het
Tpo	C	T	12: 30,148,228 (GRCm39)	V558M	probably benign	Het
Trex1	T	G	9: 108,887,352 (GRCm39)	Q213P	possibly damaging	Het
Ugt1a6a	A	G	1: 88,066,586 (GRCm39)	K131E	probably benign	Het
Vipr1	T	A	9: 121,494,202 (GRCm39)		probably null	Het
Vmn1r22	T	C	6: 57,877,860 (GRCm39)	D39G	probably damaging	Het
Vmn2r58	A	T	7: 41,522,046 (GRCm39)	C17S	probably benign	Het
Vps41	T	C	13: 18,929,453 (GRCm39)	Y63H	probably damaging	Het
Xdh	G	T	17: 74,217,195 (GRCm39)	T691N	probably benign	Het
Zfp518b	T	C	5: 38,830,970 (GRCm39)	N345S	probably damaging	Het
Zfp536	T	A	7: 37,267,918 (GRCm39)	K499N	probably damaging	Het
Zfp963	A	T	8: 70,195,510 (GRCm39)		probably null	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
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'- GATACACTGATCAGGCAGGG -3'
(R):5'- CGGAAGCTTAGTGCATGTGG -3'

Sequencing Primer
(F):5'- GCGTGTGCCTGCTAAAGAAGAC -3'
(R):5'- GAGGTGCTCAGGGCTTTCC -3'

Posted On

2015-09-25