Mutagenetix > Incidental Mutations

Incidental Mutation 'IGL03136:Ttc39b'

410514

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Ttc39b

Ensembl Gene

ENSMUSG00000038172

Gene Name

tetratricopeptide repeat domain 39B

Synonyms

9130422G05Rik, 1810054D07Rik

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.120) question?

Stock #

IGL03136

Quality Score

Status

Chromosome

Chromosomal Location

83220300-83324255 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 83237280 bp

Zygosity

Heterozygous

Amino Acid Change

Valine to Glutamic Acid at position 497 (V497E)

Ref Sequence

ENSEMBL: ENSMUSP00000099887 (fasta)

Gene Model

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

Predicted Effect

probably benign
Transcript: ENSMUST00000048274

SMART Domains

Protein: ENSMUSP00000040590
Gene: ENSMUSG00000038172

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000102823
AA Change: V497E

PolyPhen 2 Score 0.974 (Sensitivity: 0.76; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000099887
Gene: ENSMUSG00000038172
AA Change: V497E

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: ENSMUST00000143362

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 45 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
5730522E02Rik	A	G	11: 25,769,122	L7S	unknown	Het
Abr	C	T	11: 76,425,295	W571*	probably null	Het
Adam18	A	T	8: 24,641,836	C420S	probably damaging	Het
Akap5	G	T	12: 76,329,875	E694*	probably null	Het
Bbs1	T	C	19: 4,890,991	K565R	probably benign	Het
Brix1	A	G	15: 10,478,766	F189S	probably damaging	Het
Cnot4	C	A	6: 35,051,241	R480L	probably damaging	Het
Ctu2	A	G	8: 122,479,201		probably benign	Het
Dhcr7	A	G	7: 143,847,366	H422R	probably damaging	Het
Dock1	A	G	7: 135,168,389	M1793V	probably benign	Het
Dock7	A	G	4: 99,003,791	F853L	probably damaging	Het
Fkbp15	G	A	4: 62,340,229		probably benign	Het
Ftsj3	C	T	11: 106,253,813	D117N	probably damaging	Het
Gphn	A	G	12: 78,481,333	I142V	possibly damaging	Het
Hsd3b1	G	A	3: 98,852,985	A230V	probably damaging	Het
Hydin	G	A	8: 110,418,524	A836T	probably benign	Het
Ift52	G	T	2: 163,025,334	E71*	probably null	Het
Ms4a14	T	C	19: 11,304,411	D261G	possibly damaging	Het
Nid1	G	A	13: 13,500,499	V935I	probably benign	Het
Nrap	T	C	19: 56,342,255	K1008E	possibly damaging	Het
Nup210	A	C	6: 91,028,861	V1340G	probably benign	Het
Olfr1442	T	A	19: 12,674,967	I254N	probably damaging	Het
Olfr169	A	T	16: 19,566,353	F177I	probably damaging	Het
Olfr974	T	C	9: 39,943,036	Y259H	probably damaging	Het
Pcdhb15	C	A	18: 37,475,014	T433N	probably damaging	Het
Pdcd6ip	T	A	9: 113,691,499	N139I	probably damaging	Het
Pgbd1	A	G	13: 21,433,439	V80A	possibly damaging	Het
Pigw	A	G	11: 84,877,777	I242T	probably benign	Het
Prtg	T	G	9: 72,856,985	V580G	possibly damaging	Het
Ptpn13	T	A	5: 103,543,463	N1065K	possibly damaging	Het
Qrich1	G	A	9: 108,544,918	R577H	probably damaging	Het
Ryr3	G	A	2: 112,675,974		probably benign	Het
Selenoi	T	C	5: 30,257,727	Y197H	probably damaging	Het
Slc47a2	A	G	11: 61,310,765	C343R	probably benign	Het
Smurf2	A	T	11: 106,831,048	D527E	probably benign	Het
Spam1	C	T	6: 24,797,011		probably benign	Het
Stkld1	T	C	2: 26,951,423	V460A	probably benign	Het
Tgoln1	G	A	6: 72,614,113	R339W	probably damaging	Het
Tprg	T	C	16: 25,412,762		probably benign	Het
Treml1	T	G	17: 48,364,851		probably benign	Het
Vmn1r223	A	G	13: 23,249,763	T176A	possibly damaging	Het
Vmn2r75	A	T	7: 86,148,703	I634N	possibly damaging	Het
Vps13c	A	G	9: 67,950,310	E2608G	probably damaging	Het
Zfp575	A	G	7: 24,585,956	C87R	probably damaging	Het
Zfp790	T	A	7: 29,829,895	Y668*	probably null	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
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
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
X0064:Ttc39b	UTSW	4	83260939	missense	possibly damaging	0.95

Posted On

2016-08-02