Mutagenetix > Incidental Mutation

Incidental Mutation 'R4599:Ttc7b'

345464

Institutional Source

Beutler Lab

Gene Symbol

Ttc7b

Ensembl Gene

ENSMUSG00000033530

Gene Name

tetratricopeptide repeat domain 7B

Synonyms

Ttc7l1

MMRRC Submission

041815-MU

Accession Numbers

Essential gene?

Possibly non essential (E-score: 0.370) question?

Stock #

R4599 (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: 99.3%
3x: 98.7%
10x: 97.4%
20x: 95.4%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 69 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca14	T	C	7: 120,255,403	V930A	probably benign	Het
Ankrd13b	T	C	11: 77,471,668	R677G	probably benign	Het
Apc	T	A	18: 34,317,987	Y2611*	probably null	Het
Apold1	A	G	6: 134,984,069	Y162C	probably damaging	Het
Atp6v0a4	T	C	6: 38,078,802	I325V	probably benign	Het
Cab39	A	G	1: 85,848,329	Y249C	probably damaging	Het
Cd22	T	A	7: 30,875,900	H239L	probably damaging	Het
Chrna7	A	G	7: 63,103,790	M327T	probably damaging	Het
Clock	T	C	5: 76,235,810	M499V	probably benign	Het
Clspn	A	G	4: 126,581,460	E1002G	probably benign	Het
Clta	C	T	4: 44,012,819	P10S	probably damaging	Het
Col5a3	A	G	9: 20,774,559		probably null	Het
Coq6	T	C	12: 84,362,139	V30A	probably benign	Het
Csmd2	G	T	4: 127,988,128	R20L	probably benign	Het
D430041D05Rik	A	T	2: 104,208,183	V1547D	probably damaging	Het
Dapk1	C	T	13: 60,718,047	P153S	probably benign	Het
Dock2	T	A	11: 34,239,536	Y1545F	probably damaging	Het
Dpp6	G	T	5: 27,634,548	G354C	probably damaging	Het
Dyrk1b	T	C	7: 28,182,431	L105P	probably damaging	Het
Epor	A	G	9: 21,961,859	S86P	probably benign	Het
Fam166b	T	C	4: 43,427,574	H250R	possibly damaging	Het
Gale	C	A	4: 135,967,837	S341*	probably null	Het
Galnt4	T	A	10: 99,109,493	V360E	probably damaging	Het
Gart	A	T	16: 91,622,945	C24*	probably null	Het
Gcnt2	G	T	13: 40,887,490	V42L	probably benign	Het
Herc6	A	G	6: 57,659,713	I805V	probably benign	Het
Ints12	T	A	3: 133,098,453	I67N	probably benign	Het
Irx1	C	A	13: 71,960,113	R150L	probably damaging	Het
Kif26b	A	G	1: 178,530,459	Y45C	unknown	Het
Krt35	T	C	11: 100,094,008	T275A	probably damaging	Het
Laptm5	G	T	4: 130,916,005		probably benign	Het
Lin7a	T	C	10: 107,412,166	S111P	unknown	Het
Med27	A	G	2: 29,524,458	D159G	probably damaging	Het
Msh2	A	G	17: 87,708,578	K546R	probably damaging	Het
Myo1a	A	T	10: 127,720,151		probably null	Het
Myo1c	T	C	11: 75,668,193	F604L	probably damaging	Het
Myrip	A	G	9: 120,464,784	K782E	probably damaging	Het
Ndc80	T	C	17: 71,521,068	D88G	probably damaging	Het
Nrxn2	A	G	19: 6,455,252	D375G	probably damaging	Het
Olfr1380	T	C	11: 49,564,718	S266P	probably damaging	Het
Olfr676	A	G	7: 105,036,073	I292V	probably benign	Het
Padi3	T	C	4: 140,798,111	H187R	probably damaging	Het
Pcdhgb1	A	T	18: 37,681,557	N367I	probably damaging	Het
Pdrg1	T	C	2: 153,012,390	I77V	probably benign	Het
Pfas	T	C	11: 68,991,069	E930G	probably benign	Het
Pik3cb	C	T	9: 99,061,764	R662Q	probably benign	Het
Pla2g4e	T	G	2: 120,186,382	H226P	possibly damaging	Het
Plxnd1	A	T	6: 115,994,276	V177E	probably damaging	Het
Prmt7	A	G	8: 106,250,329	S558G	possibly damaging	Het
Pspc1	A	C	14: 56,777,789		probably null	Het
Rilp	T	C	11: 75,512,760	S343P	probably benign	Het
Ror1	A	G	4: 100,407,910	M194V	probably damaging	Het
Rsu1	T	C	2: 13,170,004	Y225C	probably damaging	Het
Rundc1	A	G	11: 101,433,926	N486S	probably damaging	Het
Sema6d	T	A	2: 124,654,231	I65N	probably damaging	Het
Slc5a11	A	G	7: 123,258,378	E230G	probably benign	Het
Spint1	T	C	2: 119,246,460	S342P	probably damaging	Het
Stard3nl	A	G	13: 19,367,753	S214P	probably damaging	Het
Tcp10a	A	C	17: 7,336,924	T271P	probably damaging	Het
Tie1	A	G	4: 118,472,634	Y1091H	probably benign	Het
Tlr12	T	C	4: 128,617,332	Y375C	probably benign	Het
Tmem107	T	A	11: 69,071,448	M77K	probably damaging	Het
Tns2	C	T	15: 102,108,934	R281C	probably damaging	Het
Tns3	T	C	11: 8,531,747	K202E	probably damaging	Het
Tspoap1	C	T	11: 87,779,521	P1634L	probably damaging	Het
Ush2a	A	G	1: 188,911,647	N4402S	probably benign	Het
Vmn2r13	A	T	5: 109,156,456	I703N	probably damaging	Het
Xrcc4	A	G	13: 90,062,007		probably null	Het
Zp3	A	T	5: 135,984,235	K168*	probably null	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
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
R8084:Ttc7b	UTSW	12	100384173	missense	probably damaging	1.00
R8132:Ttc7b	UTSW	12	100446872	missense	probably damaging	0.99
R8364:Ttc7b	UTSW	12	100325558	missense	probably benign	0.40
R8536:Ttc7b	UTSW	12	100373544	missense	possibly damaging	0.56
R8719:Ttc7b	UTSW	12	100301553	missense	probably damaging	0.99
R8932:Ttc7b	UTSW	12	100301763	missense	probably benign	0.00
R8992:Ttc7b	UTSW	12	100500174	missense	probably benign
R9674:Ttc7b	UTSW	12	100466294	missense	probably benign	0.24
R9731:Ttc7b	UTSW	12	100495424	missense	possibly damaging	0.62

Predicted Primers

PCR Primer
(F):5'- ATACACTGATCAGGCAGGGC -3'
(R):5'- ACCCGGAAGCTTAGTGCATG -3'

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

Posted On

2015-09-25