Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL00976:Ttc39c'

29460

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Ttc39c

Ensembl Gene

ENSMUSG00000024424

Gene Name

tetratricopeptide repeat domain 39C

Synonyms

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.112) question?

Stock #

IGL00976

Quality Score

Status

Chromosome

Chromosomal Location

12599926-12737050 bp(+) (GRCm38)

Type of Mutation

splice site

DNA Base Change (assembly)

T to C at 12684895 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000133127 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000025294] [ENSMUST00000169401]

AlphaFold

no structure available at present

Predicted Effect

probably benign
Transcript: ENSMUST00000025294

SMART Domains

Protein: ENSMUSP00000025294
Gene: ENSMUSG00000024424

Domain	Start	End	E-Value	Type
Pfam:DUF3808	31	495	7.3e-140	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000141060

Predicted Effect

probably benign
Transcript: ENSMUST00000169401

SMART Domains

Protein: ENSMUSP00000133127
Gene: ENSMUSG00000024424

Domain	Start	End	E-Value	Type
Pfam:DUF3808	1	437	1.6e-134	PFAM

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 37 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930519F16Rik	A	G	X: 103,183,262		probably benign	Het
Aldob	C	A	4: 49,541,220	V151L	probably damaging	Het
Cacna1i	G	A	15: 80,355,645	M298I	probably benign	Het
Capn3	A	G	2: 120,491,901	N414S	possibly damaging	Het
Ccdc186	G	A	19: 56,797,500	T701M	probably damaging	Het
Ccdc190	A	T	1: 169,933,740	H137L	probably benign	Het
Clhc1	G	A	11: 29,561,389	D278N	probably benign	Het
Cntnap3	T	C	13: 64,794,352	Y188C	probably damaging	Het
Dnah1	A	C	14: 31,278,138	V2466G	probably damaging	Het
Dnah8	A	G	17: 30,851,710	T4457A	probably damaging	Het
Gm13078	T	A	4: 143,727,015	M231K	probably damaging	Het
Hectd4	A	G	5: 121,349,106	Q3388R	probably benign	Het
Hecw1	T	A	13: 14,318,972	D316V	probably damaging	Het
Il1rap	T	C	16: 26,698,839	V263A	probably benign	Het
Il6	G	A	5: 30,014,841	G72S	probably benign	Het
Katnal2	T	C	18: 77,017,493	Y86C	probably damaging	Het
Kdm7a	G	T	6: 39,144,398	S874R	possibly damaging	Het
Mybpc2	T	C	7: 44,522,317		probably null	Het
Nphs1	T	G	7: 30,460,685	S130A	possibly damaging	Het
Ntrk3	C	T	7: 78,450,953	V444I	probably benign	Het
Numbl	T	C	7: 27,268,810	V144A	possibly damaging	Het
Olfr952	T	A	9: 39,426,657	Y138F	probably benign	Het
P2rx1	T	C	11: 73,013,000		probably null	Het
Pcdhb3	G	A	18: 37,302,948	V656I	probably benign	Het
Pole	A	G	5: 110,323,572	Y1394C	probably benign	Het
Rbm47	A	G	5: 66,026,738	V174A	possibly damaging	Het
Rhox4f	T	C	X: 37,604,395		probably benign	Het
Serpina12	T	C	12: 104,032,528	Y317C	probably damaging	Het
Slc12a5	T	A	2: 164,979,304	I236N	probably damaging	Het
Slc4a4	G	A	5: 88,954,798	G32R	probably damaging	Het
Slco1a4	T	C	6: 141,807,182		probably null	Het
Sorcs3	A	T	19: 48,767,103	N894I	probably damaging	Het
Stk38l	A	G	6: 146,775,402	E393G	probably benign	Het
Synpo	A	G	18: 60,603,419	I485T	possibly damaging	Het
Tenm3	T	A	8: 48,256,841	M1687L	probably benign	Het
Unc13d	T	C	11: 116,070,467	E378G	probably damaging	Het
Vmn2r118	T	A	17: 55,593,204	N567Y	probably damaging	Het

Other mutations in Ttc39c

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02323:Ttc39c	APN	18	12736743	missense	probably null	0.79
R1628:Ttc39c	UTSW	18	12734879	splice site	probably benign
R1771:Ttc39c	UTSW	18	12684824	splice site	probably null
R2002:Ttc39c	UTSW	18	12697878	splice site	probably null
R4162:Ttc39c	UTSW	18	12724937	critical splice acceptor site	probably null
R4344:Ttc39c	UTSW	18	12728610	splice site	probably null
R4484:Ttc39c	UTSW	18	12730069	missense	possibly damaging	0.90
R4752:Ttc39c	UTSW	18	12728725	missense	probably benign	0.05
R4872:Ttc39c	UTSW	18	12687116	intron	probably benign
R4912:Ttc39c	UTSW	18	12734894	missense	probably benign	0.00
R4946:Ttc39c	UTSW	18	12724942	nonsense	probably null
R5036:Ttc39c	UTSW	18	12687081	critical splice donor site	probably null
R5439:Ttc39c	UTSW	18	12695371	missense	possibly damaging	0.88
R5726:Ttc39c	UTSW	18	12697935	missense	probably damaging	1.00
R7213:Ttc39c	UTSW	18	12687081	critical splice donor site	probably null
R7400:Ttc39c	UTSW	18	12643799	intron	probably benign
R7413:Ttc39c	UTSW	18	12728689	missense	possibly damaging	0.65
R7567:Ttc39c	UTSW	18	12689879	missense	probably benign	0.01
R7979:Ttc39c	UTSW	18	12732965	missense	probably benign
R8769:Ttc39c	UTSW	18	12695488	missense	probably damaging	1.00
R8824:Ttc39c	UTSW	18	12686946	splice site	probably benign
R8827:Ttc39c	UTSW	18	12695379	missense	probably benign
R8855:Ttc39c	UTSW	18	12697946	missense	probably benign	0.30
R8866:Ttc39c	UTSW	18	12697946	missense	probably benign	0.30
R8996:Ttc39c	UTSW	18	12687079	missense	probably benign	0.00
R9349:Ttc39c	UTSW	18	12689875	nonsense	probably null
R9356:Ttc39c	UTSW	18	12720045	critical splice donor site	probably null
R9797:Ttc39c	UTSW	18	12695485	missense	probably damaging	1.00
Z1088:Ttc39c	UTSW	18	12686963	missense	possibly damaging	0.90

Posted On

2013-04-17