Mutagenetix > Incidental Mutation

Incidental Mutation 'R8400:Ttc39d'

647836

Institutional Source

Beutler Lab

Gene Symbol

Ttc39d

Ensembl Gene

ENSMUSG00000046196

Gene Name

tetratricopeptide repeat domain 39D

Synonyms

4930560E09Rik

MMRRC Submission

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.207) question?

Stock #

R8400 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

80207460-80217936 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 80216005 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 31 (V31A)

Ref Sequence

ENSEMBL: ENSMUSP00000123158 (fasta)

Gene Model

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

AlphaFold

Q0VF76

Predicted Effect

probably benign
Transcript: ENSMUST00000053168
AA Change: V31A

PolyPhen 2 Score 0.150 (Sensitivity: 0.92; Specificity: 0.87)

SMART Domains

Protein: ENSMUSP00000053781
Gene: ENSMUSG00000046196
AA Change: V31A

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

Predicted Effect

probably benign
Transcript: ENSMUST00000134652
AA Change: V31A

PolyPhen 2 Score 0.150 (Sensitivity: 0.92; Specificity: 0.87)

SMART Domains

Protein: ENSMUSP00000123158
Gene: ENSMUSG00000046196
AA Change: V31A

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

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 99.0%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 47 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca13	G	A	11: 9,293,925	M1929I	probably benign	Het
Abca13	T	C	11: 9,298,218	I2655T	probably damaging	Het
Acad10	A	G	5: 121,626,205	V887A	possibly damaging	Het
Acot10	T	C	15: 20,666,172	E161G	possibly damaging	Het
Astn1	C	T	1: 158,657,100	P919L	probably benign	Het
Atp1a4	T	A	1: 172,234,494	D688V	probably damaging	Het
C4bp	C	A	1: 130,636,747	C400F	probably damaging	Het
Col6a6	A	C	9: 105,774,796	D1005E	probably damaging	Het
Csnk1g3	C	T	18: 53,953,288	R422C	probably benign	Het
Cutc	T	C	19: 43,753,205	S15P	probably benign	Het
Dgkb	T	C	12: 38,602,838		probably null	Het
Disc1	T	C	8: 125,232,993	V748A	probably benign	Het
Dmbt1	C	G	7: 131,082,587	D778E	unknown	Het
Dmxl2	T	C	9: 54,383,753	Y2471C	probably benign	Het
Fam185a	T	A	5: 21,438,816	N243K	probably benign	Het
Fchsd2	A	T	7: 101,253,573	Q386L	possibly damaging	Het
Gm904	C	A	13: 50,643,417	P49Q	probably damaging	Het
H2-Q10	C	T	17: 35,470,477	R59C	probably damaging	Het
Ier5l	A	G	2: 30,473,093	Y307H	possibly damaging	Het
Kmt2e	C	A	5: 23,497,092	T906K	probably benign	Het
Kndc1	C	T	7: 139,913,518	R467W	probably damaging	Het
Muc5ac	C	A	7: 141,810,476	T2508K	probably damaging	Het
Nlrp9a	A	T	7: 26,565,006	M784L	probably benign	Het
Nlrp9b	T	A	7: 20,024,012	C391*	probably null	Het
Nubp2	A	C	17: 24,884,465	M146R	probably damaging	Het
Olfr1295	A	T	2: 111,565,402	L14H	probably damaging	Het
Olfr1359	G	A	13: 21,703,915	V305M	probably benign	Het
Olfr1419	T	A	19: 11,871,214	M1L	probably damaging	Het
Olfr43	C	T	11: 74,206,395	V274M	possibly damaging	Het
Olfr694	T	A	7: 106,689,669	S21C	probably benign	Het
Olfr857	A	T	9: 19,713,093	N89Y	probably benign	Het
Otud1	T	C	2: 19,658,378	V106A	possibly damaging	Het
Pcdhac1	T	A	18: 37,092,400	Y755*	probably null	Het
Pkd1l3	C	T	8: 109,623,888	P455L	possibly damaging	Het
Ptprb	GAGACCCTCGGGAGCACTGCAGAGACCCTCAGGAACACTGCAAAGACCCTCGGGAGCACTGCAGAGACCCTCAGGAACACTGCAAAGACCCTCGGGAGCACTGCAGAGACCCTCGGGAGCACTGCAAAGACCCTCGGGAGCACTGCAAAGACCCTCGGGAGCACTGCAAAGACCCTCGGGAGCACT	GAGACCCTCGGGAGCACTGCAGAGACCCTCAGGAACACTGCAAAGACCCTCGGGAGCACTGCAGAGACCCTCGGGAGCACTGCAAAGACCCTCGGGAGCACTGCAAAGACCCTCGGGAGCACTGCAAAGACCCTCGGGAGCACT	10: 116,283,572		probably benign	Het
Samhd1	T	C	2: 157,099,433	E648G	probably benign	Het
Smarca5	T	C	8: 80,709,127	T794A	probably benign	Het
Spc24	A	T	9: 21,757,730	L87H	probably damaging	Het
Sppl2b	TGTCACAGGT	TGT	10: 80,866,069		probably null	Het
Stra6l	G	A	4: 45,864,905	R77Q	probably damaging	Het
Tdrd1	G	A	19: 56,848,649	V472M	probably benign	Het
Tsc2	A	T	17: 24,604,987	I948K	possibly damaging	Het
Vmn1r158	A	T	7: 22,789,880	C301*	probably null	Het
Vmn2r22	A	T	6: 123,637,527	L368*	probably null	Het
Vmn2r79	A	G	7: 87,002,100	T236A	probably benign	Het
Vwa1	T	C	4: 155,772,768	H191R	probably benign	Het
Zdbf2	T	A	1: 63,304,976	V838E	possibly 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
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
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'- CAGACTGAGCTTTGTGTGGAAG -3'
(R):5'- TATCAGGGCGTGGTATGAAC -3'

Sequencing Primer
(F):5'- CTTTGTGTGGAAGAAGAGACCCTG -3'
(R):5'- TGACCATGGGTGAATAAGGTTG -3'

Posted On

2020-09-02