Mutagenetix > Incidental Mutations

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

Is this an essential gene?

Possibly non essential (E-score: 0.250) question?

Stock #

R0302 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

100300770-100520826 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 100387179 bp

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]

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
Adprhl2	T	C	4: 126,317,392	E244G	probably benign	Het
Aldh1l2	G	A	10: 83,520,365	P54S	probably damaging	Het
Ankdd1a	G	A	9: 65,509,642		probably benign	Het
Ankra2	T	A	13: 98,271,692	S216R	probably damaging	Het
Asah2	A	T	19: 32,052,956	N105K	probably benign	Het
Ass1	A	T	2: 31,514,819	N371Y	probably damaging	Het
Cacna1s	A	G	1: 136,100,604	Y893C	probably benign	Het
Capza2	G	A	6: 17,648,524	R15H	probably benign	Het
Cbfa2t2	T	C	2: 154,534,876		probably benign	Het
Ccdc96	A	T	5: 36,486,101	T484S	possibly damaging	Het
Cckar	GCTTAGCCTCTTCT	GCT	5: 53,700,299		probably null	Het
Ccl4	T	A	11: 83,663,454		probably benign	Het
Cpt1b	A	G	15: 89,417,870	Y702H	probably benign	Het
Cr1l	G	A	1: 195,117,793	T153I	probably damaging	Het
Cyth2	C	A	7: 45,810,585	E57*	probably null	Het
Daxx	T	A	17: 33,913,620	S575T	probably damaging	Het
Depdc5	T	C	5: 32,904,546		probably benign	Het
Dnah12	A	G	14: 26,799,999	D1923G	probably damaging	Het
Dnah7b	A	G	1: 46,123,777	T428A	probably benign	Het
Dnm2	G	T	9: 21,500,343	A619S	probably benign	Het
Enpp2	T	C	15: 54,860,061	T639A	probably benign	Het
Epsti1	A	T	14: 77,939,926	H182L	probably damaging	Het
Exoc3l	C	T	8: 105,293,543	R250Q	probably benign	Het
Ggn	G	T	7: 29,171,240		probably null	Het
Il1rap	A	G	16: 26,692,794	N196S	probably benign	Het
Ints6	T	C	14: 62,709,512	T335A	probably damaging	Het
Itga1	G	A	13: 115,012,318		probably benign	Het
Kifc3	G	T	8: 95,103,470	Q557K	possibly damaging	Het
Krt23	A	G	11: 99,478,201	I422T	probably benign	Het
Lcn2	A	G	2: 32,384,889		probably benign	Het
Lonp2	A	G	8: 86,637,991	T326A	possibly damaging	Het
Lrpprc	T	C	17: 84,740,078	I909V	possibly damaging	Het
Lrrc14	G	T	15: 76,714,352	R396L	probably benign	Het
Lypd6	T	G	2: 50,165,667		probably benign	Het
Man2b1	A	G	8: 85,093,016	N610S	probably damaging	Het
Map2	A	T	1: 66,414,828	N959I	probably benign	Het
Mctp2	C	T	7: 72,090,264	V793I	possibly damaging	Het
Med25	A	C	7: 44,880,558		probably benign	Het
Mfsd6	T	C	1: 52,709,457	Y83C	probably damaging	Het
Mtbp	A	T	15: 55,625,424	M499L	probably damaging	Het
Mtmr10	A	T	7: 64,297,497	K53N	probably damaging	Het
Nfat5	T	C	8: 107,358,701	I542T	probably damaging	Het
Nr1h3	A	G	2: 91,192,013	M90T	probably damaging	Het
Nsmce4a	A	G	7: 130,545,893		probably benign	Het
Olfr1168	T	A	2: 88,185,510	I211N	possibly damaging	Het
Oprl1	G	A	2: 181,719,228	C318Y	probably benign	Het
Pbx3	A	T	2: 34,224,560	S46T	probably benign	Het
Pign	A	T	1: 105,589,093	F575I	possibly damaging	Het
Ptpn13	G	T	5: 103,565,225	S1738I	probably benign	Het
Rnf126	G	T	10: 79,759,223	P269Q	probably damaging	Het
Ryr3	G	A	2: 112,647,123		probably benign	Het
Slc2a7	C	T	4: 150,149,521	A31V	probably damaging	Het
Slc6a12	A	G	6: 121,363,259	D487G	probably damaging	Het
Son	G	T	16: 91,656,144	G593V	probably damaging	Het
Spata31d1a	T	C	13: 59,703,150	N388S	probably benign	Het
Spg11	A	T	2: 122,092,187	M927K	possibly damaging	Het
Taf13	A	G	3: 108,571,722	M1V	probably null	Het
Trim32	G	A	4: 65,613,254	R16Q	probably damaging	Het
Trio	A	G	15: 27,902,517	F286S	probably damaging	Het
Trpm2	A	C	10: 77,943,990		probably benign	Het
Vmn1r184	A	T	7: 26,267,543	Q238L	probably damaging	Het
Zfp236	T	C	18: 82,658,088	E368G	probably damaging	Het
Zfr2	G	T	10: 81,251,336		probably benign	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
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
R6223:Ttc7b	UTSW	12	100387109	critical splice donor site	probably null
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'- ACCATGAACAATGCACACGAGTGAG -3'
(R):5'- TTGGTGCTTCTGTGACAGCCTC -3'

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

Posted On

2013-04-16