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

067763-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.178) question?

Stock #

R8400 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

80523343-80525365 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 80523434 bp (GRCm39)

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: 9,243,925 (GRCm39)	M1929I	probably benign	Het
Abca13	T	C	11: 9,248,218 (GRCm39)	I2655T	probably damaging	Het
Acad10	A	G	5: 121,764,268 (GRCm39)	V887A	possibly damaging	Het
Acot10	T	C	15: 20,666,258 (GRCm39)	E161G	possibly damaging	Het
Astn1	C	T	1: 158,484,670 (GRCm39)	P919L	probably benign	Het
Atp1a4	T	A	1: 172,062,061 (GRCm39)	D688V	probably damaging	Het
C4bp	C	A	1: 130,564,484 (GRCm39)	C400F	probably damaging	Het
Col6a6	A	C	9: 105,651,995 (GRCm39)	D1005E	probably damaging	Het
Csnk1g3	C	T	18: 54,086,360 (GRCm39)	R422C	probably benign	Het
Cutc	T	C	19: 43,741,644 (GRCm39)	S15P	probably benign	Het
Dgkb	T	C	12: 38,652,837 (GRCm39)		probably null	Het
Disc1	T	C	8: 125,959,732 (GRCm39)	V748A	probably benign	Het
Dmbt1	C	G	7: 130,684,317 (GRCm39)	D778E	unknown	Het
Dmxl2	T	C	9: 54,291,037 (GRCm39)	Y2471C	probably benign	Het
Fam185a	T	A	5: 21,643,814 (GRCm39)	N243K	probably benign	Het
Fchsd2	A	T	7: 100,902,780 (GRCm39)	Q386L	possibly damaging	Het
Gm904	C	A	13: 50,797,453 (GRCm39)	P49Q	probably damaging	Het
H2-Q10	C	T	17: 35,781,374 (GRCm39)	R59C	probably damaging	Het
Ier5l	A	G	2: 30,363,105 (GRCm39)	Y307H	possibly damaging	Het
Kmt2e	C	A	5: 23,702,090 (GRCm39)	T906K	probably benign	Het
Kndc1	C	T	7: 139,493,434 (GRCm39)	R467W	probably damaging	Het
Muc5ac	C	A	7: 141,364,213 (GRCm39)	T2508K	probably damaging	Het
Nlrp9a	A	T	7: 26,264,431 (GRCm39)	M784L	probably benign	Het
Nlrp9b	T	A	7: 19,757,937 (GRCm39)	C391*	probably null	Het
Nubp2	A	C	17: 25,103,439 (GRCm39)	M146R	probably damaging	Het
Or10q3	T	A	19: 11,848,578 (GRCm39)	M1L	probably damaging	Het
Or1a1b	C	T	11: 74,097,221 (GRCm39)	V274M	possibly damaging	Het
Or2ag1b	T	A	7: 106,288,876 (GRCm39)	S21C	probably benign	Het
Or2b2	G	A	13: 21,888,085 (GRCm39)	V305M	probably benign	Het
Or4k45	A	T	2: 111,395,747 (GRCm39)	L14H	probably damaging	Het
Or7e166	A	T	9: 19,624,389 (GRCm39)	N89Y	probably benign	Het
Otud1	T	C	2: 19,663,189 (GRCm39)	V106A	possibly damaging	Het
Pcdhac1	T	A	18: 37,225,453 (GRCm39)	Y755*	probably null	Het
Pkd1l3	C	T	8: 110,350,520 (GRCm39)	P455L	possibly damaging	Het
Ptprb	GAGACCCTCGGGAGCACTGCAGAGACCCTCAGGAACACTGCAAAGACCCTCGGGAGCACTGCAGAGACCCTCAGGAACACTGCAAAGACCCTCGGGAGCACTGCAGAGACCCTCGGGAGCACTGCAAAGACCCTCGGGAGCACTGCAAAGACCCTCGGGAGCACTGCAAAGACCCTCGGGAGCACT	GAGACCCTCGGGAGCACTGCAGAGACCCTCAGGAACACTGCAAAGACCCTCGGGAGCACTGCAGAGACCCTCGGGAGCACTGCAAAGACCCTCGGGAGCACTGCAAAGACCCTCGGGAGCACTGCAAAGACCCTCGGGAGCACT	10: 116,119,477 (GRCm39)		probably benign	Het
Samhd1	T	C	2: 156,941,353 (GRCm39)	E648G	probably benign	Het
Smarca5	T	C	8: 81,435,756 (GRCm39)	T794A	probably benign	Het
Spc24	A	T	9: 21,669,026 (GRCm39)	L87H	probably damaging	Het
Sppl2b	TGTCACAGGT	TGT	10: 80,701,903 (GRCm39)		probably null	Het
Stra6l	G	A	4: 45,864,905 (GRCm39)	R77Q	probably damaging	Het
Tdrd1	G	A	19: 56,837,081 (GRCm39)	V472M	probably benign	Het
Tsc2	A	T	17: 24,823,961 (GRCm39)	I948K	possibly damaging	Het
Vmn1r158	A	T	7: 22,489,305 (GRCm39)	C301*	probably null	Het
Vmn2r22	A	T	6: 123,614,486 (GRCm39)	L368*	probably null	Het
Vmn2r79	A	G	7: 86,651,308 (GRCm39)	T236A	probably benign	Het
Vwa1	T	C	4: 155,857,225 (GRCm39)	H191R	probably benign	Het
Zdbf2	T	A	1: 63,344,135 (GRCm39)	V838E	possibly damaging	Het

Other mutations in Ttc39d

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00835:Ttc39d	APN	17	80,523,955 (GRCm39)	missense	probably damaging	0.99
IGL01065:Ttc39d	APN	17	80,523,703 (GRCm39)	missense	probably damaging	0.96
IGL01834:Ttc39d	APN	17	80,523,475 (GRCm39)	missense	probably benign
IGL02541:Ttc39d	APN	17	80,523,875 (GRCm39)	missense	probably damaging	0.99
PIT4687001:Ttc39d	UTSW	17	80,524,354 (GRCm39)	missense	probably damaging	1.00
R0042:Ttc39d	UTSW	17	80,523,379 (GRCm39)	missense	probably benign	0.02
R0042:Ttc39d	UTSW	17	80,523,379 (GRCm39)	missense	probably benign	0.02
R0124:Ttc39d	UTSW	17	80,524,375 (GRCm39)	missense	probably damaging	1.00
R0523:Ttc39d	UTSW	17	80,523,886 (GRCm39)	missense	possibly damaging	0.78
R0801:Ttc39d	UTSW	17	80,523,644 (GRCm39)	missense	probably damaging	1.00
R1581:Ttc39d	UTSW	17	80,523,913 (GRCm39)	missense	probably benign	0.02
R2071:Ttc39d	UTSW	17	80,524,030 (GRCm39)	missense	probably damaging	1.00
R2271:Ttc39d	UTSW	17	80,524,675 (GRCm39)	missense	probably damaging	1.00
R2272:Ttc39d	UTSW	17	80,524,675 (GRCm39)	missense	probably damaging	1.00
R2520:Ttc39d	UTSW	17	80,523,799 (GRCm39)	missense	probably benign	0.17
R2885:Ttc39d	UTSW	17	80,524,144 (GRCm39)	missense	probably benign	0.00
R2939:Ttc39d	UTSW	17	80,524,982 (GRCm39)	missense	probably damaging	1.00
R2940:Ttc39d	UTSW	17	80,524,982 (GRCm39)	missense	probably damaging	1.00
R3081:Ttc39d	UTSW	17	80,524,982 (GRCm39)	missense	probably damaging	1.00
R4669:Ttc39d	UTSW	17	80,525,068 (GRCm39)	missense	probably benign	0.00
R4872:Ttc39d	UTSW	17	80,524,527 (GRCm39)	missense	probably benign	0.00
R4951:Ttc39d	UTSW	17	80,523,462 (GRCm39)	missense	probably benign	0.01
R6260:Ttc39d	UTSW	17	80,524,076 (GRCm39)	nonsense	probably null
R7018:Ttc39d	UTSW	17	80,523,610 (GRCm39)	missense	probably benign	0.06
R7042:Ttc39d	UTSW	17	80,523,891 (GRCm39)	missense	probably benign	0.00
R7468:Ttc39d	UTSW	17	80,523,579 (GRCm39)	missense	possibly damaging	0.96
R7761:Ttc39d	UTSW	17	80,524,741 (GRCm39)	missense	probably damaging	0.98
R7825:Ttc39d	UTSW	17	80,523,575 (GRCm39)	missense	probably damaging	0.99
R7955:Ttc39d	UTSW	17	80,523,352 (GRCm39)	missense	probably benign
R8192:Ttc39d	UTSW	17	80,524,007 (GRCm39)	missense	probably damaging	0.99
R8682:Ttc39d	UTSW	17	80,524,693 (GRCm39)	missense	probably benign	0.01
R9019:Ttc39d	UTSW	17	80,523,349 (GRCm39)	missense	probably benign	0.03
R9453:Ttc39d	UTSW	17	80,524,754 (GRCm39)	missense	probably damaging	1.00
R9480:Ttc39d	UTSW	17	80,524,139 (GRCm39)	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