Mutagenetix > Incidental Mutations

Incidental Mutation 'R6223:Ttc7b'

504158

Institutional Source

Beutler Lab

Gene Symbol

Ttc7b

Ensembl Gene

ENSMUSG00000033530

Gene Name

tetratricopeptide repeat domain 7B

Synonyms

Ttc7l1

MMRRC Submission

044354-MU

Accession Numbers

Is this an essential gene?

Possibly non essential (E-score: 0.424) question?

Stock #

R6223 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

100300770-100520826 bp(-) (GRCm38)

Type of Mutation

critical splice donor site (2 bp from exon)

DNA Base Change (assembly)

A to G at 100387109 bp

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000152299 (fasta)

Gene Model

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

Predicted Effect

probably null
Transcript: ENSMUST00000062957

SMART Domains

Protein: ENSMUSP00000052107
Gene: ENSMUSG00000033530

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

probably null
Transcript: ENSMUST00000223020

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000223514

Coding Region Coverage

1x: 99.9%
3x: 99.7%
10x: 98.4%
20x: 95.6%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 60 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
6820408C15Rik	A	C	2: 152,427,953	R8S	probably benign	Het
Abca8b	A	G	11: 109,977,846	V164A	probably benign	Het
Acadm	C	A	3: 153,938,549		probably null	Het
Ap3b2	G	A	7: 81,473,462	R435*	probably null	Het
Art2b	A	G	7: 101,579,951	F247S	possibly damaging	Het
C1rb	T	A	6: 124,574,580	D216E	probably benign	Het
Casz1	C	A	4: 148,933,383	D90E	probably damaging	Het
Ccdc13	A	G	9: 121,798,909		probably benign	Het
Cdc25a	C	A	9: 109,889,774	P409T	possibly damaging	Het
Cidea	A	C	18: 67,358,739	K23T	possibly damaging	Het
Clspn	T	A	4: 126,586,168	D1101E	probably damaging	Het
Col10a1	A	T	10: 34,395,187	D385V	probably damaging	Het
Crat	C	T	2: 30,407,030	V304I	probably benign	Het
Cyp2d26	A	T	15: 82,791,717	W265R	probably benign	Het
Dock8	A	T	19: 25,161,052	Y1247F	probably benign	Het
Eed	A	G	7: 89,956,287	Y365H	probably damaging	Het
Fabp5	T	A	3: 10,015,110	F73L	probably benign	Het
Fbn1	C	T	2: 125,412,671	C224Y	possibly damaging	Het
Ggcx	T	C	6: 72,429,605	F684L	probably damaging	Het
Glrp1	G	A	1: 88,503,442	Q69*	probably null	Het
Gm29797	T	C	2: 181,659,057	V115A	possibly damaging	Het
Gtf3c1	C	T	7: 125,676,625	R543K	probably benign	Het
Ifih1	T	C	2: 62,598,259	I891V	probably benign	Het
Ifnar2	C	T	16: 91,387,988	T89M	probably damaging	Het
Kat6a	C	A	8: 22,940,426	N1932K	unknown	Het
Mgat5	A	T	1: 127,382,979	D210V	possibly damaging	Het
Mmel1	A	G	4: 154,871,702		probably null	Het
Myh3	G	T	11: 67,098,017	V1499L	probably benign	Het
Ncan	A	C	8: 70,109,954	D551E	probably benign	Het
Nol11	G	T	11: 107,171,616	T598K	possibly damaging	Het
Olfml3	G	A	3: 103,736,460	R202W	probably damaging	Het
Olfr1362	G	A	13: 21,611,366	T201I	probably benign	Het
Olfr1509	A	G	14: 52,450,679	R89G	probably benign	Het
Pcdh9	T	C	14: 93,015,733	K1131E	probably benign	Het
Pcolce	A	G	5: 137,605,299	M424T	probably damaging	Het
Pi16	C	A	17: 29,327,439	S397*	probably null	Het
Pi4ka	A	T	16: 17,357,571	Y464*	probably null	Het
Pik3c2b	T	A	1: 133,070,357	L324M	probably damaging	Het
Prdm2	T	C	4: 143,142,207	N179S	probably benign	Het
Prss56	C	T	1: 87,185,412	P183S	probably benign	Het
Prx	T	G	7: 27,516,836	M393R	probably damaging	Het
Qpctl	T	C	7: 19,143,209	D328G	probably damaging	Het
Qser1	A	G	2: 104,787,648	S940P	probably benign	Het
Rchy1	G	A	5: 91,957,967	R41W	probably damaging	Het
Scp2d1	T	C	2: 144,823,948	I69T	possibly damaging	Het
Sirpb1a	A	G	3: 15,379,026	V388A	probably benign	Het
Ssu2	G	T	6: 112,376,448	C238*	probably null	Het
Stub1	C	T	17: 25,832,813	G14D	probably damaging	Het
Tab1	T	A	15: 80,148,263	C24S	probably damaging	Het
Tdrd1	T	C	19: 56,865,850	V1076A	probably damaging	Het
Tex10	T	C	4: 48,468,525	R134G	probably damaging	Het
Tg	T	A	15: 66,707,922	N1525K	probably benign	Het
Tll2	G	A	19: 41,135,952	T208I	possibly damaging	Het
Tmem232	T	C	17: 65,500,196	M1V	probably null	Het
Ubb	A	G	11: 62,552,525	E127G	possibly damaging	Het
Ulk2	A	T	11: 61,787,504	Y796*	probably null	Het
Vdac2	G	A	14: 21,845,178	G265R	possibly damaging	Het
Vmn2r45	A	T	7: 8,483,302	V329E	probably benign	Het
Wdr60	T	C	12: 116,257,458	D11G	possibly damaging	Het
Zfp651	G	A	9: 121,763,787	R391Q	possibly damaging	Het

Other mutations in Ttc7b

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00740:Ttc7b	APN	12	100376213	missense	probably benign	0.03
IGL01377:Ttc7b	APN	12	100355112	missense	probably benign	0.21
IGL01617:Ttc7b	APN	12	100385956	missense	possibly damaging	0.94
IGL02928:Ttc7b	APN	12	100403415	missense	probably damaging	1.00
IGL03183:Ttc7b	APN	12	100373709	splice site	probably null
IGL03341:Ttc7b	APN	12	100325735	missense	possibly damaging	0.66
R0302:Ttc7b	UTSW	12	100387179	missense	possibly damaging	0.94
R0620:Ttc7b	UTSW	12	100500073	splice site	probably null
R0625:Ttc7b	UTSW	12	100355046	missense	probably benign	0.04
R1016:Ttc7b	UTSW	12	100403358	missense	probably null	1.00
R1131:Ttc7b	UTSW	12	100382119	critical splice donor site	probably null
R1241:Ttc7b	UTSW	12	100403439	missense	possibly damaging	0.90
R1710:Ttc7b	UTSW	12	100403408	missense	probably damaging	0.98
R1803:Ttc7b	UTSW	12	100407002	missense	possibly damaging	0.94
R1887:Ttc7b	UTSW	12	100415130	splice site	probably null
R1920:Ttc7b	UTSW	12	100415130	splice site	probably null
R1921:Ttc7b	UTSW	12	100415130	splice site	probably null
R1922:Ttc7b	UTSW	12	100415130	splice site	probably null
R2062:Ttc7b	UTSW	12	100325689	missense	probably damaging	1.00
R2239:Ttc7b	UTSW	12	100355001	critical splice donor site	probably null
R2380:Ttc7b	UTSW	12	100355001	critical splice donor site	probably null
R4581:Ttc7b	UTSW	12	100500117	missense	probably damaging	0.99
R4582:Ttc7b	UTSW	12	100500117	missense	probably damaging	0.99
R4598:Ttc7b	UTSW	12	100500117	missense	probably damaging	0.99
R4599:Ttc7b	UTSW	12	100500117	missense	probably damaging	0.99
R4600:Ttc7b	UTSW	12	100500117	missense	probably damaging	0.99
R4601:Ttc7b	UTSW	12	100500117	missense	probably damaging	0.99
R4779:Ttc7b	UTSW	12	100403362	missense	probably damaging	1.00
R5027:Ttc7b	UTSW	12	100301742	missense	probably damaging	1.00
R5244:Ttc7b	UTSW	12	100348010	missense	probably damaging	0.99
R5387:Ttc7b	UTSW	12	100446963	missense	possibly damaging	0.64
R5739:Ttc7b	UTSW	12	100384233	missense	probably damaging	1.00
R5997:Ttc7b	UTSW	12	100373560	missense	probably damaging	0.96
R6238:Ttc7b	UTSW	12	100495422	missense	probably benign	0.31
R6318:Ttc7b	UTSW	12	100325677	missense	probably damaging	0.99
R6494:Ttc7b	UTSW	12	100495407	missense	possibly damaging	0.73
R7153:Ttc7b	UTSW	12	100355034	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- AGAATTCCTCACCTTAGTGCTCTG -3'
(R):5'- GGCATGGTGAGGAAATGTCTC -3'

Sequencing Primer
(F):5'- AGTGCTCTGTCCATCTTAGACC -3'
(R):5'- CCCTTAAGGTTAATGGAATTGGCAG -3'

Posted On

2018-02-28