Mutagenetix > Incidental Mutation

Incidental Mutation 'R4581:Ttc7b'

343693

Institutional Source

Beutler Lab

Gene Symbol

Ttc7b

Ensembl Gene

ENSMUSG00000033530

Gene Name

tetratricopeptide repeat domain 7B

Synonyms

Ttc7l1

MMRRC Submission

041802-MU

Accession Numbers

Essential gene?

Possibly non essential (E-score: 0.329) question?

Stock #

R4581 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

100300770-100520826 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 100500117 bp (GRCm38)

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: 71 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2410089E03Rik	C	A	15: 8,171,798 (GRCm38)	P20T	possibly damaging	Het
3425401B19Rik	G	T	14: 32,661,871 (GRCm38)	S712R	possibly damaging	Het
4933427I04Rik	A	G	4: 123,860,353 (GRCm38)	D20G	possibly damaging	Het
Abca7	A	G	10: 80,006,568 (GRCm38)	D1112G	probably benign	Het
Actc1	G	T	2: 114,049,608 (GRCm38)	H175N	possibly damaging	Het
Adgrd1	C	T	5: 129,202,531 (GRCm38)	A863V	possibly damaging	Het
Ankrd17	T	C	5: 90,283,120 (GRCm38)	D935G	possibly damaging	Het
Ankrd7	T	A	6: 18,868,021 (GRCm38)	N95K	probably damaging	Het
Arhgef4	G	A	1: 34,732,124 (GRCm38)	E1171K	possibly damaging	Het
Ascc3	T	C	10: 50,711,025 (GRCm38)	I991T	probably damaging	Het
Cacna1s	T	A	1: 136,070,970 (GRCm38)		probably null	Het
Camk1d	A	T	2: 5,354,704 (GRCm38)	V177E	probably benign	Het
Cdh18	T	A	15: 23,226,783 (GRCm38)	I110N	probably damaging	Het
Cenpe	A	G	3: 135,247,000 (GRCm38)	K1484E	probably benign	Het
Cep68	A	G	11: 20,239,333 (GRCm38)	S560P	probably benign	Het
Cog3	G	T	14: 75,732,951 (GRCm38)	T352K	probably benign	Het
Cox6a2	A	G	7: 128,205,980 (GRCm38)	S44P	possibly damaging	Het
Csmd2	T	C	4: 128,369,088 (GRCm38)	V689A	probably benign	Het
Ddx60	A	T	8: 62,023,261 (GRCm38)	M1548L	possibly damaging	Het
Dennd5b	G	T	6: 149,016,984 (GRCm38)		silent	Het
Dlgap2	T	C	8: 14,846,679 (GRCm38)	Y1052H	probably damaging	Het
Dnaaf5	T	A	5: 139,184,685 (GRCm38)	D502E	probably damaging	Het
Efhb	C	A	17: 53,426,275 (GRCm38)	A523S	probably damaging	Het
Epha8	C	T	4: 136,933,464 (GRCm38)	V648M	probably damaging	Het
Fanca	C	T	8: 123,274,338 (GRCm38)		probably null	Het
Fbxw7	G	A	3: 84,967,545 (GRCm38)	E205K	probably benign	Het
Fer1l6	C	T	15: 58,640,226 (GRCm38)	T1514I	probably damaging	Het
Gm12886	T	C	4: 121,416,683 (GRCm38)	E112G	probably damaging	Het
Gm7535	T	C	17: 17,911,083 (GRCm38)		probably benign	Het
Irf2bp2	T	A	8: 126,591,255 (GRCm38)	Q524L	probably damaging	Het
Itih4	A	G	14: 30,900,968 (GRCm38)	D864G	probably benign	Het
Kdm4c	T	G	4: 74,357,339 (GRCm38)		probably null	Het
Ltn1	A	T	16: 87,402,024 (GRCm38)		probably null	Het
Mafa	G	T	15: 75,747,736 (GRCm38)	P63T	unknown	Het
Mars2	T	A	1: 55,237,862 (GRCm38)	L208H	probably damaging	Het
Myom2	A	G	8: 15,106,459 (GRCm38)	I769V	probably benign	Het
Nyap1	A	G	5: 137,736,022 (GRCm38)	S250P	probably damaging	Het
Olfr1082	A	T	2: 86,594,228 (GRCm38)	M200K	probably benign	Het
Osmr	C	T	15: 6,842,894 (GRCm38)	V240I	probably benign	Het
Pcdhga3	A	G	18: 37,676,881 (GRCm38)	T796A	probably benign	Het
Pclo	T	C	5: 14,675,505 (GRCm38)	V1459A	unknown	Het
Phactr3	A	C	2: 178,283,172 (GRCm38)	H300P	probably damaging	Het
Pla2g4e	T	G	2: 120,186,382 (GRCm38)	H226P	possibly damaging	Het
Plcd4	T	A	1: 74,548,224 (GRCm38)	W48R	probably damaging	Het
Prdm16	A	G	4: 154,323,353 (GRCm38)	S1140P	probably damaging	Het
Rarg	A	C	15: 102,252,551 (GRCm38)	S18A	possibly damaging	Het
Rfx4	T	A	10: 84,844,300 (GRCm38)	S114T	possibly damaging	Het
Sec14l4	G	A	11: 4,043,375 (GRCm38)		probably null	Het
Six1	T	G	12: 73,045,934 (GRCm38)	T165P	probably benign	Het
Skint4	T	C	4: 112,087,042 (GRCm38)	L17P	probably damaging	Het
Slc25a23	T	A	17: 57,052,740 (GRCm38)	Y337F	probably damaging	Het
Slc9a3	A	G	13: 74,164,165 (GRCm38)	Y627C	probably damaging	Het
Smu1	A	C	4: 40,737,401 (GRCm38)		probably null	Het
Spryd3	A	G	15: 102,130,364 (GRCm38)	S141P	probably damaging	Het
Src	A	T	2: 157,463,038 (GRCm38)	N175I	probably damaging	Het
Srcap	GCTCCTCCTCCTCCTCCT	GCTCCTCCTCCTCCT	7: 127,558,310 (GRCm38)		probably benign	Het
Stc2	A	G	11: 31,365,326 (GRCm38)		probably null	Het
Taf6l	T	C	19: 8,778,208 (GRCm38)	D261G	probably damaging	Het
Tal1	T	G	4: 115,064,722 (GRCm38)	V167G	probably damaging	Het
Tfec	G	A	6: 16,834,125 (GRCm38)	T261I	probably damaging	Het
Tgfb1	G	T	7: 25,697,230 (GRCm38)	S273I	possibly damaging	Het
Tmem8b	T	A	4: 43,685,760 (GRCm38)	V636E	probably damaging	Het
Top2b	T	G	14: 16,409,189 (GRCm38)	I777M	probably damaging	Het
Trappc11	A	T	8: 47,493,345 (GRCm38)	M1084K	probably damaging	Het
Trem3	A	C	17: 48,249,611 (GRCm38)	T37P	possibly damaging	Het
Urb1	T	C	16: 90,788,146 (GRCm38)	D529G	probably benign	Het
Vmn2r8	T	A	5: 108,801,704 (GRCm38)	T426S	probably benign	Het
Yipf4	T	C	17: 74,499,094 (GRCm38)	Y243H	probably benign	Het
Zfp574	T	A	7: 25,081,313 (GRCm38)	C587S	probably damaging	Het
Zfp93	C	A	7: 24,275,668 (GRCm38)	H359Q	probably damaging	Het
Znfx1	T	C	2: 167,050,316 (GRCm38)	E660G	probably damaging	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
R1710:Ttc7b	UTSW	12	100,403,408 (GRCm38)	missense	probably damaging	0.98
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
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'- ATACACTGATCAGGCAGGGC -3'
(R):5'- CGGAAGCTTAGTGCATGTGG -3'

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

Posted On

2015-09-24