Mutagenetix > Incidental Mutation

Incidental Mutation 'R0124:Ttc39d'

21250

Institutional Source

Beutler Lab

Gene Symbol

Ttc39d

Ensembl Gene

ENSMUSG00000046196

Gene Name

tetratricopeptide repeat domain 39D

Synonyms

4930560E09Rik

MMRRC Submission

038409-MU

Accession Numbers

Essential gene?

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

Stock #

R0124 (G1)

Quality Score

225

Status

Validated (trace)

Chromosome

Chromosomal Location

80207460-80217936 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 80216946 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Cysteine to Arginine at position 345 (C345R)

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: C345R

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000053781
Gene: ENSMUSG00000046196
AA Change: C345R

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000134652
AA Change: C345R

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000123158
Gene: ENSMUSG00000046196
AA Change: C345R

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

Meta Mutation Damage Score

0.6467

Coding Region Coverage

1x: 99.3%
3x: 98.3%
10x: 95.7%
20x: 89.8%

Validation Efficiency

100% (67/67)

Allele List at MGI

Other mutations in this stock

Total: 60 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700003E16Rik	A	G	6: 83,161,674	T194A	probably benign	Het
Afap1	C	T	5: 35,945,209	P82S	probably damaging	Het
Ankrd28	A	G	14: 31,727,741	Y481H	probably damaging	Het
Arid1b	C	T	17: 5,339,330	T1717I	probably damaging	Het
Atad2b	A	G	12: 4,952,676	K348R	probably benign	Het
B020004J07Rik	A	G	4: 101,835,373	*477Q	probably null	Het
Bcl3	C	T	7: 19,809,651	V5M	probably damaging	Het
C2cd3	A	G	7: 100,469,518	E2321G	probably benign	Het
Casq1	C	T	1: 172,210,425	V380M	probably damaging	Het
Cd209e	T	A	8: 3,851,274	T127S	probably benign	Het
Cdh23	G	T	10: 60,308,056	Y2921*	probably null	Het
Cdh6	A	G	15: 13,034,324	L750P	probably damaging	Het
Cdk12	T	C	11: 98,211,247		probably benign	Het
Ces5a	T	C	8: 93,528,555	E170G	probably damaging	Het
Clec4f	A	G	6: 83,652,353		probably null	Het
Col19a1	T	C	1: 24,526,458	N264S	unknown	Het
Col2a1	T	A	15: 97,998,862	I43F	unknown	Het
Col4a2	A	G	8: 11,408,871		probably benign	Het
Csmd3	T	A	15: 47,590,716	D3578V	probably damaging	Het
Cyp2c37	T	C	19: 39,994,102	L128P	probably damaging	Het
Dysf	A	G	6: 84,065,102		probably benign	Het
Eml1	T	C	12: 108,506,608	V225A	probably benign	Het
Eml1	A	G	12: 108,509,178	Y256C	probably damaging	Het
Epb41l5	T	A	1: 119,633,640	K64*	probably null	Het
Fat2	A	G	11: 55,283,678	F2070L	probably damaging	Het
Fbxw18	G	T	9: 109,691,515	H259N	probably benign	Het
Gm10764	A	T	10: 87,290,748	T6S	unknown	Het
Gm14412	A	G	2: 177,315,912		probably benign	Het
Heatr5b	A	T	17: 78,826,217		probably benign	Het
Hid1	T	C	11: 115,356,823	T250A	probably damaging	Het
Hnf4g	A	G	3: 3,643,082		probably benign	Het
Ifnar1	C	T	16: 91,499,537	Q309*	probably null	Het
Lrriq1	C	T	10: 103,170,420		probably null	Het
Map3k13	A	G	16: 21,903,756	T223A	possibly damaging	Het
Matn2	C	T	15: 34,426,151		probably benign	Het
Myo6	A	G	9: 80,307,774	E1253G	probably damaging	Het
Nomo1	G	T	7: 46,083,228		probably benign	Het
Olfr1221	A	T	2: 89,111,744	I256K	possibly damaging	Het
Olfr160	A	G	9: 37,711,463	V272A	possibly damaging	Het
Olfr356	A	T	2: 36,937,256	I46F	possibly damaging	Het
Papolg	C	T	11: 23,867,535	A582T	probably benign	Het
Plekhm3	C	T	1: 64,921,751	E449K	probably damaging	Het
Pole	T	G	5: 110,303,992	M900R	probably damaging	Het
Ppp1cb	T	A	5: 32,483,478		probably benign	Het
Pros1	A	G	16: 62,913,946	T372A	possibly damaging	Het
Scara3	A	T	14: 65,931,221	S316T	probably benign	Het
St5	A	G	7: 109,542,511	S132P	possibly damaging	Het
Stau2	C	T	1: 16,463,128	A61T	probably damaging	Het
Stx3	T	C	19: 11,791,799	E54G	possibly damaging	Het
Sun1	T	C	5: 139,246,679		probably benign	Het
Swt1	A	T	1: 151,391,529	C634S	probably damaging	Het
Syt6	A	G	3: 103,587,526	Y269C	probably damaging	Het
Tfap2a	G	A	13: 40,717,411		probably benign	Het
Tmx4	A	T	2: 134,639,720		probably null	Het
Vmn1r27	T	C	6: 58,215,248	Y257C	probably damaging	Het
Vmn2r27	T	A	6: 124,231,619	T56S	probably benign	Het
Vps13b	T	C	15: 35,576,528		probably null	Het
Wdr17	A	G	8: 54,635,491	S1175P	probably damaging	Het
Wsb2	T	C	5: 117,363,758	F63L	probably benign	Het
Zfp142	A	G	1: 74,568,623	Y1561H	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
IGL02541:Ttc39d	APN	17	80216446	missense	probably damaging	0.99
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
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

Predicted Primers

PCR Primer
(F):5'- TGCTCCACGACAGTGCATCTGAAC -3'
(R):5'- TCCACACAGTCAGGAGGAATCAAGG -3'

Sequencing Primer
(F):5'- GTGCATCTGAACCGCATATAAAC -3'
(R):5'- AGGCCAGTATGATAGCCTTGC -3'

Posted On

2013-04-11