Mutagenetix > Incidental Mutation

Incidental Mutation 'R1581:Ttc39d'

171441

Institutional Source

Beutler Lab

Gene Symbol

Ttc39d

Ensembl Gene

ENSMUSG00000046196

Gene Name

tetratricopeptide repeat domain 39D

Synonyms

4930560E09Rik

MMRRC Submission

039618-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.171) question?

Stock #

R1581 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

80207460-80217936 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to C at 80216484 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Serine to Arginine at position 191 (S191R)

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: S191R

PolyPhen 2 Score 0.016 (Sensitivity: 0.95; Specificity: 0.79)

SMART Domains

Protein: ENSMUSP00000053781
Gene: ENSMUSG00000046196
AA Change: S191R

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

Predicted Effect

probably benign
Transcript: ENSMUST00000134652
AA Change: S191R

PolyPhen 2 Score 0.016 (Sensitivity: 0.95; Specificity: 0.79)

SMART Domains

Protein: ENSMUSP00000123158
Gene: ENSMUSG00000046196
AA Change: S191R

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

Coding Region Coverage

1x: 99.1%
3x: 98.2%
10x: 96.2%
20x: 92.6%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 66 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcd2	T	C	15: 91,179,144	E447G	probably benign	Het
Actn4	T	C	7: 28,898,646	T510A	probably benign	Het
Adgrb3	A	G	1: 25,094,072	M1311T	possibly damaging	Het
Arfgef1	C	T	1: 10,199,878	A349T	probably benign	Het
Auh	G	A	13: 52,835,496	P308L	probably benign	Het
Bicdl1	G	T	5: 115,651,267		probably benign	Het
Bmyc	T	C	2: 25,707,334	S137P	probably damaging	Het
Camsap3	C	T	8: 3,604,708	R782C	probably damaging	Het
Casc3	C	T	11: 98,822,818	T292I	possibly damaging	Het
Chmp7	C	T	14: 69,719,450	M336I	probably benign	Het
Cnnm2	A	G	19: 46,763,123	T451A	probably damaging	Het
Eed	T	C	7: 89,980,468	K20E	possibly damaging	Het
Eps15	T	A	4: 109,363,186	M180K	probably benign	Het
Esr1	T	C	10: 4,997,905	I486T	probably damaging	Het
Etnppl	A	G	3: 130,628,744	I207V	possibly damaging	Het
Fam92a	T	A	4: 12,155,745		probably null	Het
Fancg	G	A	4: 43,007,039	P246L	probably damaging	Het
Fcrl1	G	A	3: 87,385,723	C249Y	possibly damaging	Het
Foxred2	A	G	15: 77,955,761	F110L	possibly damaging	Het
Fsip2	A	T	2: 82,986,282	N4120Y	probably damaging	Het
Gm156	T	C	6: 129,775,833	D3G	probably benign	Het
Gm4884	C	T	7: 41,043,831	S408L	probably benign	Het
Gm9476	T	C	10: 100,306,612		noncoding transcript	Het
Gria1	T	C	11: 57,237,010		probably null	Het
H6pd	T	A	4: 149,982,514	I472F	possibly damaging	Het
Hydin	A	T	8: 110,410,460	M632L	probably benign	Het
Hyou1	C	T	9: 44,388,870	P819S	probably damaging	Het
Il6st	A	G	13: 112,481,541	E163G	probably damaging	Het
Kcnk1	T	C	8: 125,995,539	V27A	possibly damaging	Het
Kdelr3	T	C	15: 79,522,913		probably null	Het
Klk1b22	A	G	7: 44,115,975	N117S	possibly damaging	Het
Lpp	C	A	16: 24,681,841	C134*	probably null	Het
Lrrc37a	G	A	11: 103,457,017	R2951*	probably null	Het
Luzp2	T	A	7: 55,249,490	D285E	possibly damaging	Het
Ly75	C	T	2: 60,327,893	R1016H	probably damaging	Het
Mesp2	T	A	7: 79,812,541	S282T	possibly damaging	Het
Nav3	T	C	10: 109,823,428	D776G	probably damaging	Het
Nr2e1	T	C	10: 42,567,968	T253A	probably benign	Het
Nup214	C	T	2: 32,034,466	S1669F	probably damaging	Het
Olfr398	A	T	11: 73,984,521	L29H	probably damaging	Het
Padi6	T	C	4: 140,735,836	Y146C	probably damaging	Het
Pank4	C	T	4: 154,974,651	R414W	probably damaging	Het
Pclo	T	G	5: 14,521,282	I227S	probably benign	Het
Plppr4	A	G	3: 117,328,266	V221A	possibly damaging	Het
Pradc1	G	A	6: 85,448,586	R25C	probably damaging	Het
Rfwd3	C	T	8: 111,288,242	R326Q	probably damaging	Het
Rnd2	A	G	11: 101,471,196	T192A	probably benign	Het
Rtbdn	A	G	8: 84,955,066	E131G	probably benign	Het
Ryr2	A	G	13: 11,794,563	V792A	probably benign	Het
Sacs	G	T	14: 61,213,679	Q4391H	probably damaging	Het
Scd2	A	G	19: 44,298,099	S123G	probably benign	Het
Sept9	A	G	11: 117,290,595	R74G	probably damaging	Het
Sipa1l2	T	A	8: 125,491,617	Q327L	probably damaging	Het
Skor1	T	C	9: 63,146,223	T127A	probably damaging	Het
Sphk2	A	G	7: 45,713,496	V57A	probably damaging	Het
Tfec	A	T	6: 16,844,244	D101E	probably damaging	Het
Tmem43	T	A	6: 91,478,735	H109Q	probably benign	Het
Tmem67	C	A	4: 12,047,814	S839I	probably damaging	Het
Trpv5	T	C	6: 41,653,140	Y672C	probably damaging	Het
Ttll1	C	T	15: 83,496,277	V296M	probably damaging	Het
Upp2	A	C	2: 58,774,165	K130T	possibly damaging	Het
Vmn2r5	A	G	3: 64,491,219	C780R	probably damaging	Het
Wars	C	A	12: 108,875,709	E171*	probably null	Het
Zeb2	A	T	2: 44,997,000	S637T	probably damaging	Het
Zfp27	T	A	7: 29,896,124	T139S	possibly damaging	Het
Zfp941	A	T	7: 140,812,120	L442Q	probably benign	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
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'- TATCCAGATCGGAATGAACGCCGC -3'
(R):5'- TGGCAGCAGTAGAAGCCTTTTCAAC -3'

Sequencing Primer
(F):5'- GCTTTGAAAACCTGCAACAATTTCC -3'
(R):5'- CTACACGCACATAGTTGTAGTAGAAG -3'

Posted On

2014-04-13