Mutagenetix > Incidental Mutation

Incidental Mutation 'R1710:Ttc7b'

190475

Institutional Source

Beutler Lab

Gene Symbol

Ttc7b

Ensembl Gene

ENSMUSG00000033530

Gene Name

tetratricopeptide repeat domain 7B

Synonyms

Ttc7l1

MMRRC Submission

039743-MU

Accession Numbers

Essential gene?

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

Stock #

R1710 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

100300770-100520826 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 100403408 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glutamic Acid at position 367 (D367E)

Ref Sequence

ENSEMBL: ENSMUSP00000052107 (fasta)

Gene Model

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

AlphaFold

E9Q6P5

Predicted Effect

probably damaging
Transcript: ENSMUST00000062957
AA Change: D367E

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

SMART Domains

Protein: ENSMUSP00000052107
Gene: ENSMUSG00000033530
AA Change: D367E

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: D367E

PolyPhen 2 Score 0.971 (Sensitivity: 0.77; Specificity: 0.96)

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000223444

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000223514

Meta Mutation Damage Score

0.6467

Coding Region Coverage

1x: 99.1%
3x: 98.4%
10x: 96.6%
20x: 93.5%

Validation Efficiency

98% (117/120)

Allele List at MGI

Other mutations in this stock

Total: 114 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930503L19Rik	A	T	18: 70,468,063 (GRCm38)	S249R	possibly damaging	Het
Acadvl	T	A	11: 70,010,355 (GRCm38)	I638F	probably damaging	Het
Acnat2	T	A	4: 49,380,587 (GRCm38)	T264S	probably benign	Het
Acrv1	C	T	9: 36,694,255 (GRCm38)	Q33*	probably null	Het
Actrt3	T	A	3: 30,599,752 (GRCm38)	N33I	probably damaging	Het
Alyref2	T	C	1: 171,503,600 (GRCm38)		probably benign	Het
Ank2	C	A	3: 126,933,060 (GRCm38)	E3712*	probably null	Het
Ano7	C	A	1: 93,385,624 (GRCm38)	H161Q	probably benign	Het
Arhgap10	C	A	8: 77,358,587 (GRCm38)	E451*	probably null	Het
Arhgap29	T	A	3: 122,008,080 (GRCm38)	Y748N	probably damaging	Het
Arhgap45	C	T	10: 80,018,098 (GRCm38)	Q149*	probably null	Het
Asap2	C	T	12: 21,224,392 (GRCm38)	H371Y	probably damaging	Het
Atp6v1b1	T	C	6: 83,758,390 (GRCm38)	I480T	probably benign	Het
BC034090	T	C	1: 155,225,864 (GRCm38)	D218G	possibly damaging	Het
Brdt	A	T	5: 107,343,584 (GRCm38)	D74V	probably damaging	Het
C4b	A	G	17: 34,743,664 (GRCm38)		probably benign	Het
Card11	T	A	5: 140,902,905 (GRCm38)	K233*	probably null	Het
Catip	T	G	1: 74,362,770 (GRCm38)	F35V	possibly damaging	Het
Ccdc13	C	T	9: 121,819,581 (GRCm38)	G247R	probably damaging	Het
Cep97	T	A	16: 55,915,022 (GRCm38)	D471V	probably damaging	Het
Col17a1	A	T	19: 47,670,931 (GRCm38)	L403Q	probably damaging	Het
Crbn	A	G	6: 106,790,945 (GRCm38)	S194P	possibly damaging	Het
Degs1l	A	G	1: 181,051,319 (GRCm38)	M1V	probably null	Het
Dennd10	A	G	19: 60,817,583 (GRCm38)	Y102C	probably damaging	Het
Dhx58	T	A	11: 100,703,574 (GRCm38)	H97L	probably benign	Het
Dnah8	T	C	17: 30,854,940 (GRCm38)	I4528T	probably damaging	Het
Dpyd	A	G	3: 118,610,443 (GRCm38)		probably null	Het
Entpd1	A	T	19: 40,726,236 (GRCm38)	Q263L	probably benign	Het
Entrep1	A	T	19: 23,979,695 (GRCm38)	I317N	probably damaging	Het
Esyt3	T	C	9: 99,336,191 (GRCm38)	I130M	probably benign	Het
Etv1	T	C	12: 38,852,262 (GRCm38)	F264S	probably benign	Het
Fat1	T	C	8: 45,010,482 (GRCm38)	S1354P	probably benign	Het
Fat4	C	A	3: 38,951,155 (GRCm38)	T1901N	probably damaging	Het
Fbxw13	C	T	9: 109,181,518 (GRCm38)	V351I	probably damaging	Het
Fmo3	A	G	1: 162,967,787 (GRCm38)	F160L	possibly damaging	Het
Fyb2	T	A	4: 105,003,916 (GRCm38)	D592E	probably damaging	Het
Gjb4	T	C	4: 127,351,870 (GRCm38)	M93V	possibly damaging	Het
Gm5089	C	A	14: 122,436,154 (GRCm38)	G52*	probably null	Het
Gm6401	G	T	14: 41,966,883 (GRCm38)	N76K	probably benign	Het
Gm6871	A	G	7: 41,546,477 (GRCm38)	S279P	probably damaging	Het
Gtf2ird2	T	G	5: 134,211,240 (GRCm38)	V301G	probably benign	Het
H2bw2	A	C	X: 136,927,467 (GRCm38)	D35A	unknown	Het
Hfm1	T	C	5: 106,896,003 (GRCm38)	E589G	probably damaging	Het
Hfm1	A	G	5: 106,880,514 (GRCm38)	F817L	probably damaging	Het
Hivep2	A	T	10: 14,129,505 (GRCm38)	K616*	probably null	Het
Hmcn1	A	T	1: 150,675,984 (GRCm38)	I2623N	probably damaging	Het
Igf2bp3	G	T	6: 49,105,631 (GRCm38)	A339E	probably damaging	Het
Insyn2b	T	A	11: 34,404,263 (GRCm38)		probably null	Het
Irx4	T	C	13: 73,267,638 (GRCm38)	I182T	possibly damaging	Het
Jcad	T	C	18: 4,674,511 (GRCm38)	S758P	probably damaging	Het
Klhdc4	A	T	8: 121,799,487 (GRCm38)	Y304*	probably null	Het
Lama1	A	G	17: 67,753,791 (GRCm38)	I705V	probably benign	Het
Mbd5	A	G	2: 49,257,032 (GRCm38)	N418S	probably benign	Het
Mmp21	C	T	7: 133,677,285 (GRCm38)	V279I	probably damaging	Het
Morc4	A	C	X: 139,854,530 (GRCm38)	C272W	probably damaging	Het
Mrm1	A	T	11: 84,818,692 (GRCm38)	C180S	probably damaging	Het
Ncor1	T	C	11: 62,423,005 (GRCm38)	D103G	probably damaging	Het
Ndrg4	A	G	8: 95,710,686 (GRCm38)	D251G	probably damaging	Het
Ndufaf5	T	C	2: 140,193,602 (GRCm38)	V246A	possibly damaging	Het
Noa1	T	C	5: 77,309,725 (GRCm38)	E111G	possibly damaging	Het
Nod1	C	A	6: 54,944,059 (GRCm38)	V425F	probably damaging	Het
Nos1	A	T	5: 117,895,919 (GRCm38)	I369F	probably damaging	Het
Nsun5	C	T	5: 135,371,316 (GRCm38)	H98Y	probably damaging	Het
Optn	G	A	2: 5,053,130 (GRCm38)	T76I	possibly damaging	Het
Or14c39	G	A	7: 86,695,110 (GRCm38)	R218H	probably benign	Het
Or4k15c	C	G	14: 50,084,370 (GRCm38)	V104L	probably benign	Het
Or5k1b	A	G	16: 58,761,141 (GRCm38)	F12L	probably benign	Het
Or8d1b	A	G	9: 38,975,906 (GRCm38)	I77V	probably damaging	Het
Or8g28	T	C	9: 39,258,571 (GRCm38)	I37V	probably benign	Het
Or9g19	C	T	2: 85,769,855 (GRCm38)	T18I	probably benign	Het
Oscar	C	T	7: 3,611,856 (GRCm38)	W22*	probably null	Het
Palmd	T	A	3: 116,923,657 (GRCm38)	Y397F	probably damaging	Het
Plk1	A	G	7: 122,168,898 (GRCm38)	D447G	probably damaging	Het
Plscr5	T	A	9: 92,205,528 (GRCm38)	N183K	probably damaging	Het
Polk	T	G	13: 96,489,204 (GRCm38)	D364A	probably damaging	Het
Polr3d	T	C	14: 70,443,010 (GRCm38)	T36A	probably benign	Het
Ppp1r10	A	T	17: 35,926,536 (GRCm38)	R199S	probably damaging	Het
Prkcz	C	T	4: 155,262,512 (GRCm38)	D388N	probably damaging	Het
Prrc2b	T	C	2: 32,212,222 (GRCm38)	L769P	probably damaging	Het
Psg26	A	G	7: 18,480,041 (GRCm38)	V232A	probably damaging	Het
Pth2r	T	C	1: 65,336,838 (GRCm38)	V85A	possibly damaging	Het
Rbpms2	T	C	9: 65,659,212 (GRCm38)		probably benign	Het
Reps1	A	T	10: 18,118,950 (GRCm38)	D514V	possibly damaging	Het
Riok3	G	T	18: 12,142,961 (GRCm38)	R238L	probably benign	Het
Rnf19a	T	C	15: 36,244,207 (GRCm38)	Q569R	probably damaging	Het
Rorb	G	A	19: 18,960,501 (GRCm38)	T267I	probably damaging	Het
Rrm2b	A	T	15: 37,929,096 (GRCm38)	M70K	probably damaging	Het
Rsf1	A	T	7: 97,662,349 (GRCm38)	E762V	possibly damaging	Het
S100a2	G	A	3: 90,591,392 (GRCm38)	V67I	probably benign	Het
Skp1	T	A	11: 52,242,615 (GRCm38)	D42E	probably benign	Het
Slc22a4	A	T	11: 54,027,975 (GRCm38)	M1K	probably null	Het
Slc2a9	T	A	5: 38,382,044 (GRCm38)	Q371L	probably damaging	Het
Slc4a9	A	G	18: 36,532,022 (GRCm38)	T475A	probably benign	Het
Slc8b1	A	G	5: 120,519,652 (GRCm38)	N60S	probably damaging	Het
Slx4	A	C	16: 3,999,158 (GRCm38)	D66E	probably benign	Het
Smg8	A	T	11: 87,086,287 (GRCm38)	I156N	probably damaging	Het
Snx25	A	T	8: 46,116,207 (GRCm38)	C218S	possibly damaging	Het
Sulf2	T	C	2: 166,079,072 (GRCm38)	I784V	probably benign	Het
Tatdn2	G	T	6: 113,697,927 (GRCm38)	R72L	possibly damaging	Het
Tbc1d8	T	C	1: 39,406,837 (GRCm38)	D91G	possibly damaging	Het
Tifab	C	A	13: 56,176,620 (GRCm38)	R3S	probably benign	Het
Tm4sf1	A	T	3: 57,292,883 (GRCm38)	S104T	probably damaging	Het
Tmem132e	T	A	11: 82,443,517 (GRCm38)	I618N	probably damaging	Het
Txlnb	A	G	10: 17,843,455 (GRCm38)	D678G	possibly damaging	Het
Vgll4	A	G	6: 114,957,934 (GRCm38)		probably null	Het
Vmn2r124	A	T	17: 18,061,925 (GRCm38)		probably benign	Het
Vmn2r2	T	C	3: 64,117,399 (GRCm38)	D587G	probably benign	Het
Vmn2r84	G	A	10: 130,391,099 (GRCm38)	A290V	probably benign	Het
Vps13c	T	A	9: 67,911,529 (GRCm38)	S1077R	probably benign	Het
Vsig10	C	T	5: 117,351,654 (GRCm38)	A495V	probably benign	Het
Vwa3a	A	T	7: 120,804,031 (GRCm38)		probably null	Het
Zfhx2	C	A	14: 55,065,998 (GRCm38)	A1510S	possibly damaging	Het
Zfp142	T	A	1: 74,572,230 (GRCm38)	D601V	probably damaging	Het
Zfp62	T	C	11: 49,217,683 (GRCm38)	I867T	probably benign	Het

Other mutations in Ttc7b

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00740:Ttc7b	APN	12	100,376,213 (GRCm38)	missense	probably benign	0.03
IGL01377:Ttc7b	APN	12	100,355,112 (GRCm38)	missense	probably benign	0.21
IGL01617:Ttc7b	APN	12	100,385,956 (GRCm38)	missense	possibly damaging	0.94
IGL02928:Ttc7b	APN	12	100,403,415 (GRCm38)	missense	probably damaging	1.00
IGL03183:Ttc7b	APN	12	100,373,709 (GRCm38)	splice site	probably null
IGL03341:Ttc7b	APN	12	100,325,735 (GRCm38)	missense	possibly damaging	0.66
R0302:Ttc7b	UTSW	12	100,387,179 (GRCm38)	missense	possibly damaging	0.94
R0620:Ttc7b	UTSW	12	100,500,073 (GRCm38)	splice site	probably null
R0625:Ttc7b	UTSW	12	100,355,046 (GRCm38)	missense	probably benign	0.04
R1016:Ttc7b	UTSW	12	100,403,358 (GRCm38)	missense	probably null	1.00
R1131:Ttc7b	UTSW	12	100,382,119 (GRCm38)	critical splice donor site	probably null
R1241:Ttc7b	UTSW	12	100,403,439 (GRCm38)	missense	possibly damaging	0.90
R1803:Ttc7b	UTSW	12	100,407,002 (GRCm38)	missense	possibly damaging	0.94
R1887:Ttc7b	UTSW	12	100,415,130 (GRCm38)	splice site	probably null
R1920:Ttc7b	UTSW	12	100,415,130 (GRCm38)	splice site	probably null
R1921:Ttc7b	UTSW	12	100,415,130 (GRCm38)	splice site	probably null
R1922:Ttc7b	UTSW	12	100,415,130 (GRCm38)	splice site	probably null
R2062:Ttc7b	UTSW	12	100,325,689 (GRCm38)	missense	probably damaging	1.00
R2239:Ttc7b	UTSW	12	100,355,001 (GRCm38)	critical splice donor site	probably null
R2380:Ttc7b	UTSW	12	100,355,001 (GRCm38)	critical splice donor site	probably null
R4581:Ttc7b	UTSW	12	100,500,117 (GRCm38)	missense	probably damaging	0.99
R4582:Ttc7b	UTSW	12	100,500,117 (GRCm38)	missense	probably damaging	0.99
R4598:Ttc7b	UTSW	12	100,500,117 (GRCm38)	missense	probably damaging	0.99
R4599:Ttc7b	UTSW	12	100,500,117 (GRCm38)	missense	probably damaging	0.99
R4600:Ttc7b	UTSW	12	100,500,117 (GRCm38)	missense	probably damaging	0.99
R4601:Ttc7b	UTSW	12	100,500,117 (GRCm38)	missense	probably damaging	0.99
R4779:Ttc7b	UTSW	12	100,403,362 (GRCm38)	missense	probably damaging	1.00
R5027:Ttc7b	UTSW	12	100,301,742 (GRCm38)	missense	probably damaging	1.00
R5244:Ttc7b	UTSW	12	100,348,010 (GRCm38)	missense	probably damaging	0.99
R5387:Ttc7b	UTSW	12	100,446,963 (GRCm38)	missense	possibly damaging	0.64
R5739:Ttc7b	UTSW	12	100,384,233 (GRCm38)	missense	probably damaging	1.00
R5997:Ttc7b	UTSW	12	100,373,560 (GRCm38)	missense	probably damaging	0.96
R6223:Ttc7b	UTSW	12	100,387,109 (GRCm38)	critical splice donor site	probably null
R6238:Ttc7b	UTSW	12	100,495,422 (GRCm38)	missense	probably benign	0.31
R6318:Ttc7b	UTSW	12	100,325,677 (GRCm38)	missense	probably damaging	0.99
R6494:Ttc7b	UTSW	12	100,495,407 (GRCm38)	missense	possibly damaging	0.73
R7153:Ttc7b	UTSW	12	100,355,034 (GRCm38)	missense	probably damaging	1.00
R8084:Ttc7b	UTSW	12	100,384,173 (GRCm38)	missense	probably damaging	1.00
R8132:Ttc7b	UTSW	12	100,446,872 (GRCm38)	missense	probably damaging	0.99
R8364:Ttc7b	UTSW	12	100,325,558 (GRCm38)	missense	probably benign	0.40
R8536:Ttc7b	UTSW	12	100,373,544 (GRCm38)	missense	possibly damaging	0.56
R8719:Ttc7b	UTSW	12	100,301,553 (GRCm38)	missense	probably damaging	0.99
R8932:Ttc7b	UTSW	12	100,301,763 (GRCm38)	missense	probably benign	0.00
R8992:Ttc7b	UTSW	12	100,500,174 (GRCm38)	missense	probably benign
R9674:Ttc7b	UTSW	12	100,466,294 (GRCm38)	missense	probably benign	0.24
R9731:Ttc7b	UTSW	12	100,495,424 (GRCm38)	missense	possibly damaging	0.62

Predicted Primers

PCR Primer
(F):5'- AACTGCTTAGCCCAGTCACACAGG -3'
(R):5'- CAGGGTCGAGTCAAACAGTAGTGTC -3'

Sequencing Primer
(F):5'- GAGAGCAAAGATCAATAACTGATCC -3'
(R):5'- TACTTCTTGTGAAACAGGAGCG -3'

Posted On

2014-05-14