Mutagenetix > Incidental Mutation

Incidental Mutation 'R5429:Ttc39b'

427062

Institutional Source

Beutler Lab

Gene Symbol

Ttc39b

Ensembl Gene

ENSMUSG00000038172

Gene Name

tetratricopeptide repeat domain 39B

Synonyms

9130422G05Rik, 1810054D07Rik

MMRRC Submission

042995-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.097) question?

Stock #

R5429 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

83220300-83324255 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 83243953 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Threonine at position 330 (I330T)

Ref Sequence

ENSEMBL: ENSMUSP00000099887 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000048274] [ENSMUST00000102823]

AlphaFold

Q8BYY4

Predicted Effect

possibly damaging
Transcript: ENSMUST00000048274
AA Change: I330T

PolyPhen 2 Score 0.498 (Sensitivity: 0.88; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000040590
Gene: ENSMUSG00000038172
AA Change: I330T

Domain	Start	End	E-Value	Type
Pfam:DUF3808	75	478	2.2e-147	PFAM

Predicted Effect

possibly damaging
Transcript: ENSMUST00000102823
AA Change: I330T

PolyPhen 2 Score 0.498 (Sensitivity: 0.88; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000099887
Gene: ENSMUSG00000038172
AA Change: I330T

Domain	Start	End	E-Value	Type
Pfam:DUF3808	75	533	3.6e-167	PFAM
Pfam:TPR_8	329	360	4.5e-3	PFAM
Pfam:TPR_6	563	594	6.9e-5	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000146519

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.2%
20x: 95.0%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 47 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2410141K09Rik	G	A	13: 66,431,828	P199S	probably benign	Het
Akap13	T	G	7: 75,602,904	S261A	possibly damaging	Het
Ankrd34a	G	A	3: 96,597,521	G14R	probably damaging	Het
Auts2	G	A	5: 131,472,335	T289M	probably damaging	Het
Btaf1	G	A	19: 36,994,857	V1331I	possibly damaging	Het
Ciz1	T	A	2: 32,376,043	I609K	possibly damaging	Het
Clca3b	C	T	3: 144,846,459	V154I	probably damaging	Het
Csde1	A	G	3: 103,052,841	T564A	possibly damaging	Het
Csrnp2	A	G	15: 100,482,054	V452A	probably benign	Het
Ctnnd1	C	T	2: 84,616,789	V371M	probably damaging	Het
Dock6	T	C	9: 21,832,881	D677G	probably damaging	Het
Filip1l	A	T	16: 57,570,255	E402V	probably damaging	Het
Gad1-ps	G	A	10: 99,445,147		noncoding transcript	Het
Ghr	G	A	15: 3,388,675	Q37*	probably null	Het
Gm10770	C	T	2: 150,179,423	R58H	probably benign	Het
Gm12789	T	C	4: 101,989,961	Y148H	possibly damaging	Het
Herc4	T	A	10: 63,275,013	N234K	probably benign	Het
Itih3	A	G	14: 30,923,521	V10A	probably benign	Het
Kat14	T	A	2: 144,393,323	D234E	probably benign	Het
Kif13a	A	G	13: 46,772,769		probably null	Het
Kif2b	A	G	11: 91,577,229	V76A	probably benign	Het
Mboat1	A	G	13: 30,219,667	T150A	probably benign	Het
Mfsd1	T	A	3: 67,599,960	L398H	probably damaging	Het
Myt1l	G	A	12: 29,832,332	G509R	unknown	Het
Nfx1	T	C	4: 41,004,343	C705R	probably damaging	Het
Olfr318	T	A	11: 58,720,524	N175Y	probably damaging	Het
Olfr60	A	G	7: 140,345,273	F239L	possibly damaging	Het
Pcdh10	T	C	3: 45,384,200	S931P	probably benign	Het
Pdpk1	T	C	17: 24,091,560	E205G	probably benign	Het
Ppp2r2a	A	T	14: 67,023,756	F172I	probably damaging	Het
Ppp2r5e	T	A	12: 75,453,763	D452V	probably damaging	Het
Rims2	A	T	15: 39,345,355	T185S	probably damaging	Het
Rpusd4	T	C	9: 35,272,602	V209A	probably benign	Het
Safb	T	C	17: 56,588,822	V20A	probably benign	Het
Scaf8	C	A	17: 3,197,110	P903T	probably benign	Het
Slc30a7	A	G	3: 116,006,925	S31P	possibly damaging	Het
Slc9b1	T	C	3: 135,373,263		probably null	Het
Sntb1	C	G	15: 55,642,795	G461R	probably damaging	Het
Tbc1d32	T	C	10: 56,027,993	D1226G	probably damaging	Het
Tlnrd1	G	T	7: 83,882,314	T303N	probably damaging	Het
Tmc1	G	T	19: 20,789,622	N738K	possibly damaging	Het
Tmem41a	A	G	16: 21,934,856	I255T	probably benign	Het
Trim7	G	A	11: 48,849,955	C293Y	probably damaging	Het
Trpc6	C	T	9: 8,634,074	Q385*	probably null	Het
Vil1	C	T	1: 74,432,331	T757I	probably benign	Het
Zfp462	T	C	4: 55,060,077	V1201A	probably damaging	Het
Zfp473	T	A	7: 44,732,848	E686V	possibly damaging	Het

Other mutations in Ttc39b

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00553:Ttc39b	APN	4	83244039	splice site	probably benign
IGL02118:Ttc39b	APN	4	83297949	missense	probably damaging	1.00
IGL02860:Ttc39b	APN	4	83263746	missense	probably benign	0.14
IGL03008:Ttc39b	APN	4	83247695	missense	probably benign	0.00
IGL03136:Ttc39b	APN	4	83237280	missense	probably damaging	0.97
IGL03310:Ttc39b	APN	4	83247659	missense	probably benign	0.00
IGL03409:Ttc39b	APN	4	83260956	missense	probably damaging	1.00
R0536:Ttc39b	UTSW	4	83227198	missense	probably damaging	1.00
R0654:Ttc39b	UTSW	4	83241701	missense	probably benign	0.03
R1690:Ttc39b	UTSW	4	83227177	missense	probably damaging	1.00
R1758:Ttc39b	UTSW	4	83237349	missense	probably damaging	1.00
R1933:Ttc39b	UTSW	4	83232720	missense	possibly damaging	0.87
R2221:Ttc39b	UTSW	4	83232762	missense	probably benign	0.00
R2223:Ttc39b	UTSW	4	83232762	missense	probably benign	0.00
R4182:Ttc39b	UTSW	4	83237301	missense	probably damaging	1.00
R4746:Ttc39b	UTSW	4	83244103	missense	probably benign	0.01
R4984:Ttc39b	UTSW	4	83242209	missense	probably benign	0.05
R5328:Ttc39b	UTSW	4	83261941	missense	probably damaging	1.00
R5360:Ttc39b	UTSW	4	83261847	missense	probably damaging	1.00
R5646:Ttc39b	UTSW	4	83244070	missense	probably damaging	1.00
R6353:Ttc39b	UTSW	4	83230493	missense	probably benign	0.07
R6681:Ttc39b	UTSW	4	83240048	intron	probably benign
R6873:Ttc39b	UTSW	4	83246276	missense	probably damaging	1.00
R7274:Ttc39b	UTSW	4	83261851	missense	possibly damaging	0.95
R7414:Ttc39b	UTSW	4	83242222	missense	probably damaging	0.99
R7536:Ttc39b	UTSW	4	83239978	nonsense	probably null
R8095:Ttc39b	UTSW	4	83246320	missense	probably benign	0.00
R8728:Ttc39b	UTSW	4	83253010	missense	probably damaging	0.99
R9123:Ttc39b	UTSW	4	83271207	missense	probably damaging	1.00
R9194:Ttc39b	UTSW	4	83263740	missense	possibly damaging	0.67
R9303:Ttc39b	UTSW	4	83232786	missense	probably damaging	1.00
R9305:Ttc39b	UTSW	4	83232786	missense	probably damaging	1.00
R9379:Ttc39b	UTSW	4	83271139	missense	probably benign	0.28
R9473:Ttc39b	UTSW	4	83263740	missense	possibly damaging	0.67
X0064:Ttc39b	UTSW	4	83260939	missense	possibly damaging	0.95

Predicted Primers

PCR Primer
(F):5'- AAGTGTGAAAACATACGTGCAC -3'
(R):5'- TGAGCACTGTCTGTTCAATTTC -3'

Sequencing Primer
(F):5'- TACGTGCACAAAGTAAAAGCTTAGC -3'
(R):5'- TCTGTTCAATTTCTAGGTACAGGAG -3'

Posted On

2016-09-01