Mutagenetix > Incidental Mutations

Incidental Mutation 'R4746:Ttc39b'

356715

Institutional Source

Beutler Lab

Gene Symbol

Ttc39b

Ensembl Gene

ENSMUSG00000038172

Gene Name

tetratricopeptide repeat domain 39B

Synonyms

9130422G05Rik, 1810054D07Rik

MMRRC Submission

041968-MU

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.088) question?

Stock #

R4746 (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 83244103 bp

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 308 (V308A)

Ref Sequence

ENSEMBL: ENSMUSP00000099887 (fasta)

Gene Model

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

Predicted Effect

probably benign
Transcript: ENSMUST00000048274
AA Change: V308A

PolyPhen 2 Score 0.006 (Sensitivity: 0.97; Specificity: 0.75)

SMART Domains

Protein: ENSMUSP00000040590
Gene: ENSMUSG00000038172
AA Change: V308A

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

Predicted Effect

probably benign
Transcript: ENSMUST00000102823
AA Change: V308A

PolyPhen 2 Score 0.006 (Sensitivity: 0.97; Specificity: 0.75)

SMART Domains

Protein: ENSMUSP00000099887
Gene: ENSMUSG00000038172
AA Change: V308A

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: 98.5%
10x: 96.9%
20x: 94.4%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 55 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
6820408C15Rik	G	A	2: 152,440,765	S180N	probably benign	Het
Atp5a1	G	T	18: 77,778,742	G165V	probably benign	Het
Cbfa2t2	A	C	2: 154,523,925	M352L	possibly damaging	Het
Ccser2	A	T	14: 36,909,125	D98E	probably damaging	Het
Cfap20	A	G	8: 95,422,056		probably null	Het
Chuk	A	T	19: 44,088,771	C379S	possibly damaging	Het
Cic	G	A	7: 25,288,480	G1531E	probably damaging	Het
Ckap4	A	G	10: 84,533,520	V116A	possibly damaging	Het
Cxcl13	A	G	5: 95,959,897	K71E	probably damaging	Het
Dmxl2	A	T	9: 54,451,796	I210N	probably benign	Het
Donson	A	C	16: 91,682,237	V397G	probably damaging	Het
Dpy19l1	C	A	9: 24,450,670	V332L	probably benign	Het
Dsp	T	C	13: 38,195,104	S1343P	possibly damaging	Het
Egflam	A	G	15: 7,224,639		probably null	Het
Eif2b4	A	G	5: 31,187,653	I550T	probably damaging	Het
Fbxo47	A	T	11: 97,879,428	V46D	probably benign	Het
Fkbpl	G	A	17: 34,645,329	A24T	probably benign	Het
Folr1	T	A	7: 101,863,977	D37V	probably damaging	Het
Gm17333	AAGAAGAGAAGAGAAGAGAAGAGAAGAGAAGAGAA	AAGAAGAGAAGAGAAGAGAAGAGAAGAGAAGAGAAGAGAA	16: 77,852,878		noncoding transcript	Het
Gnb1	C	A	4: 155,543,074	A104E	probably damaging	Het
Gnptg	ATTGTTGATGATTT	AT	17: 25,235,597		probably benign	Het
Htra4	A	T	8: 25,033,697	V284E	probably damaging	Het
Igkv3-3	A	T	6: 70,687,324	D50V	probably benign	Het
Irs3	A	G	5: 137,643,947	S410P	probably benign	Het
Kif26b	C	T	1: 178,873,981	Q642*	probably null	Het
Klhl11	A	T	11: 100,464,350	M215K	probably benign	Het
Lamc3	A	G	2: 31,905,614	N337S	possibly damaging	Het
Lrrc55	G	A	2: 85,196,170	A170V	probably damaging	Het
March3	A	T	18: 56,776,072	W214R	probably damaging	Het
Megf11	A	C	9: 64,508,745	T79P	probably damaging	Het
Mia3	A	G	1: 183,345,220	V26A	possibly damaging	Het
Myrf	A	G	19: 10,218,591	F353S	probably damaging	Het
Obscn	A	G	11: 59,079,808		probably null	Het
Ocstamp	T	C	2: 165,396,288	K352R	probably benign	Het
Olfr721-ps1	A	T	14: 14,407,359	I46F	probably benign	Het
Olfr874	G	T	9: 37,746,157	V8L	probably benign	Het
Osbpl3	T	C	6: 50,328,674	N434S	probably damaging	Het
Pign	A	C	1: 105,585,024	L645V	probably benign	Het
Polr2a	A	G	11: 69,735,674	S1540P	probably benign	Het
Ppp2r3c	A	T	12: 55,302,635		probably null	Het
Ptprf	A	G	4: 118,225,039	V414A	possibly damaging	Het
Pyroxd2	G	A	19: 42,752,400	R22*	probably null	Het
Rab11fip2	G	A	19: 59,937,110	A225V	probably damaging	Het
Ranbp2	C	T	10: 58,492,670	A2836V	probably damaging	Het
Rimklb	G	A	6: 122,472,632	R28*	probably null	Het
Scyl3	G	A	1: 163,949,251	R404Q	probably damaging	Het
Slc9a8	A	T	2: 167,441,170	K79*	probably null	Het
Sowaha	A	T	11: 53,479,336		probably null	Het
Tnk1	A	G	11: 69,855,166	V311A	probably damaging	Het
Tnrc6a	T	A	7: 123,189,997	S1680T	probably damaging	Het
Tpp1	T	C	7: 105,748,951	Y335C	probably damaging	Het
Ttll3	A	C	6: 113,407,392	Q557P	probably damaging	Het
Ulk3	G	A	9: 57,592,918	A266T	probably benign	Het
Wfdc6b	C	A	2: 164,617,433	C138*	probably null	Het
Znrd1as	A	T	17: 36,964,873	I116L	probably benign	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
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
R5429:Ttc39b	UTSW	4	83243953	missense	possibly damaging	0.50
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
X0064:Ttc39b	UTSW	4	83260939	missense	possibly damaging	0.95

Predicted Primers

PCR Primer
(F):5'- TCGATTCGGGCATGATAGAAG -3'
(R):5'- TTGAGACTTGTCTGAGACAGCC -3'

Sequencing Primer
(F):5'- TTCGGGCATGATAGAAGAGTATG -3'
(R):5'- AAATTGTCTGCCCTGGAGC -3'

Posted On

2015-11-11