Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02541:Ttc39d'

298238

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Ttc39d

Ensembl Gene

ENSMUSG00000046196

Gene Name

tetratricopeptide repeat domain 39D

Synonyms

4930560E09Rik

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.151) question?

Stock #

IGL02541

Quality Score

Status

Chromosome

Chromosomal Location

80207460-80217936 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

C to A at 80216446 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Lysine at position 178 (T178K)

Ref Sequence

ENSEMBL: ENSMUSP00000123158 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000053168] [ENSMUST00000134652]

AlphaFold

Q0VF76

Predicted Effect

probably damaging
Transcript: ENSMUST00000053168
AA Change: T178K

PolyPhen 2 Score 0.991 (Sensitivity: 0.71; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000053781
Gene: ENSMUSG00000046196
AA Change: T178K

Domain	Start	End	E-Value	Type
Pfam:DUF3808	69	522	9.6e-149	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000134652
AA Change: T178K

PolyPhen 2 Score 0.991 (Sensitivity: 0.71; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000123158
Gene: ENSMUSG00000046196
AA Change: T178K

Domain	Start	End	E-Value	Type
Pfam:DUF3808	69	522	7.2e-150	PFAM

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 57 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca16	A	T	7: 120,514,658	L917F	possibly damaging	Het
Abca6	A	T	11: 110,212,267	W833R	probably damaging	Het
Asb15	T	A	6: 24,566,266	V406D	probably damaging	Het
Bcl9l	T	C	9: 44,507,769	V968A	probably benign	Het
Bend7	T	C	2: 4,763,305		probably null	Het
Cadm2	C	A	16: 66,882,883		probably null	Het
Cadm2	C	A	16: 66,882,882	G21V	possibly damaging	Het
Camta1	G	A	4: 151,084,655	T1191I	probably benign	Het
Cep152	C	T	2: 125,605,354	A425T	probably damaging	Het
Cep95	C	A	11: 106,815,581	Q554K	probably damaging	Het
Cgref1	A	G	5: 30,934,158		probably null	Het
Clock	T	A	5: 76,262,672		probably null	Het
Cmc2	A	G	8: 116,894,144	F33L	probably benign	Het
Cnksr3	A	G	10: 7,135,073	V258A	probably damaging	Het
Col6a6	G	T	9: 105,732,216	N1624K	probably benign	Het
Cped1	T	C	6: 22,120,989	I356T	probably benign	Het
Dpy19l2	C	T	9: 24,658,647	V337I	probably benign	Het
E2f3	A	T	13: 29,916,844		probably null	Het
Eif1ad	A	G	19: 5,368,417		probably benign	Het
Fam114a2	A	T	11: 57,499,801	D302E	probably benign	Het
Fam129c	A	T	8: 71,602,782	T279S	probably benign	Het
Fign	T	C	2: 63,979,537	N463S	probably benign	Het
Fzr1	T	C	10: 81,370,033	T220A	probably damaging	Het
Gm14496	G	A	2: 182,000,393	R619Q	probably benign	Het
Gm9268	T	A	7: 43,023,668		probably benign	Het
Gm9966	T	C	7: 95,958,784	I104T	unknown	Het
Itgb7	G	T	15: 102,223,457	H230Q	probably benign	Het
Kif7	T	C	7: 79,710,880	H249R	possibly damaging	Het
Krtap4-2	T	G	11: 99,634,966	Q20P	unknown	Het
Mis18bp1	T	C	12: 65,161,460	T160A	probably damaging	Het
Mpp6	A	G	6: 50,183,727	I323V	probably benign	Het
Mrps9	T	C	1: 42,862,654		probably null	Het
Mum1	G	A	10: 80,228,439		probably null	Het
Mynn	T	A	3: 30,611,603	H461Q	probably damaging	Het
Naa25	A	G	5: 121,424,531	T459A	possibly damaging	Het
Notch1	C	T	2: 26,468,503	D1439N	probably benign	Het
Olfr701	A	G	7: 106,818,602	E173G	probably benign	Het
Pcdhb3	A	T	18: 37,302,145	D388V	probably damaging	Het
Pold3	C	T	7: 100,083,672	G417S	probably damaging	Het
Rad17	A	G	13: 100,633,443		probably benign	Het
Sh3glb1	T	C	3: 144,720,040	D5G	probably damaging	Het
Shank3	T	A	15: 89,501,410	Y167N	probably damaging	Het
Slc3a2	A	T	19: 8,707,759	Y292*	probably null	Het
Slc7a13	T	A	4: 19,839,212		probably benign	Het
Snx18	A	T	13: 113,594,766	I564N	probably damaging	Het
Supt6	G	A	11: 78,226,918	R491C	probably damaging	Het
Tanc1	G	T	2: 59,833,258	G1120C	probably damaging	Het
Tnrc6b	C	A	15: 80,879,831	D511E	probably benign	Het
Trio	A	G	15: 27,844,930		probably benign	Het
Trmt12	T	A	15: 58,873,802	W350R	probably benign	Het
Ttc1	T	C	11: 43,738,821	T173A	probably benign	Het
Ufl1	T	A	4: 25,250,534	E693V	possibly damaging	Het
Vamp2	G	T	11: 69,089,151	E16D	unknown	Het
Wdr70	C	T	15: 7,884,302	W622*	probably null	Het
Zfp28	C	T	7: 6,393,480	Q305*	probably null	Het
Zfp653	C	A	9: 22,055,783	R602L	probably damaging	Het
Zzef1	T	A	11: 72,872,649	V1374E	probably damaging	Het

Other mutations in Ttc39d

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00835:Ttc39d	APN	17	80216526	missense	probably damaging	0.99
IGL01065:Ttc39d	APN	17	80216274	missense	probably damaging	0.96
IGL01834:Ttc39d	APN	17	80216046	missense	probably benign
PIT4687001:Ttc39d	UTSW	17	80216925	missense	probably damaging	1.00
R0042:Ttc39d	UTSW	17	80215950	missense	probably benign	0.02
R0042:Ttc39d	UTSW	17	80215950	missense	probably benign	0.02
R0124:Ttc39d	UTSW	17	80216946	missense	probably damaging	1.00
R0523:Ttc39d	UTSW	17	80216457	missense	possibly damaging	0.78
R0801:Ttc39d	UTSW	17	80216215	missense	probably damaging	1.00
R1581:Ttc39d	UTSW	17	80216484	missense	probably benign	0.02
R2071:Ttc39d	UTSW	17	80216601	missense	probably damaging	1.00
R2271:Ttc39d	UTSW	17	80217246	missense	probably damaging	1.00
R2272:Ttc39d	UTSW	17	80217246	missense	probably damaging	1.00
R2520:Ttc39d	UTSW	17	80216370	missense	probably benign	0.17
R2885:Ttc39d	UTSW	17	80216715	missense	probably benign	0.00
R2939:Ttc39d	UTSW	17	80217553	missense	probably damaging	1.00
R2940:Ttc39d	UTSW	17	80217553	missense	probably damaging	1.00
R3081:Ttc39d	UTSW	17	80217553	missense	probably damaging	1.00
R4669:Ttc39d	UTSW	17	80217639	missense	probably benign	0.00
R4872:Ttc39d	UTSW	17	80217098	missense	probably benign	0.00
R4951:Ttc39d	UTSW	17	80216033	missense	probably benign	0.01
R6260:Ttc39d	UTSW	17	80216647	nonsense	probably null
R7018:Ttc39d	UTSW	17	80216181	missense	probably benign	0.06
R7042:Ttc39d	UTSW	17	80216462	missense	probably benign	0.00
R7468:Ttc39d	UTSW	17	80216150	missense	possibly damaging	0.96
R7761:Ttc39d	UTSW	17	80217312	missense	probably damaging	0.98
R7825:Ttc39d	UTSW	17	80216146	missense	probably damaging	0.99
R7955:Ttc39d	UTSW	17	80215923	missense	probably benign
R8192:Ttc39d	UTSW	17	80216578	missense	probably damaging	0.99
R8400:Ttc39d	UTSW	17	80216005	missense	probably benign	0.15
R8682:Ttc39d	UTSW	17	80217264	missense	probably benign	0.01
R9019:Ttc39d	UTSW	17	80215920	missense	probably benign	0.03
R9453:Ttc39d	UTSW	17	80217325	missense	probably damaging	1.00
R9480:Ttc39d	UTSW	17	80216710	missense	probably benign

Posted On

2015-04-16