Mutagenetix > Incidental Mutation

Incidental Mutation 'R8192:Ttc39d'

635259

Institutional Source

Beutler Lab

Gene Symbol

Ttc39d

Ensembl Gene

ENSMUSG00000046196

Gene Name

tetratricopeptide repeat domain 39D

Synonyms

4930560E09Rik

MMRRC Submission

Accession Numbers

Essential gene?

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

Stock #

R8192 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

80207460-80217936 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 80216578 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Histidine to Arginine at position 222 (H222R)

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: H222R

PolyPhen 2 Score 0.990 (Sensitivity: 0.72; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000053781
Gene: ENSMUSG00000046196
AA Change: H222R

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000134652
AA Change: H222R

PolyPhen 2 Score 0.990 (Sensitivity: 0.72; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000123158
Gene: ENSMUSG00000046196
AA Change: H222R

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

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.4%
20x: 98.0%

Validation Efficiency

100% (64/64)

Allele List at MGI

Other mutations in this stock

Total: 66 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adam34	A	T	8: 43,650,933	D558E	probably damaging	Het
Alox15	T	A	11: 70,350,910	E48D	probably benign	Het
Alyref	T	C	11: 120,597,696	E102G	probably benign	Het
Bach2	A	G	4: 32,562,294	S254G	probably benign	Het
BC080695	T	G	4: 143,571,960	Y158D	probably benign	Het
Bcl2l13	A	G	6: 120,876,306	E184G	possibly damaging	Het
Best1	T	A	19: 9,986,300	I506F	possibly damaging	Het
Cd177	T	A	7: 24,754,302	D388V	probably benign	Het
Cep350	T	C	1: 155,940,783	K329E	possibly damaging	Het
Clasrp	T	C	7: 19,595,462	N65S	possibly damaging	Het
Cobl	T	C	11: 12,249,745	R1301G	probably benign	Het
Cul9	T	C	17: 46,538,347	E624G	probably benign	Het
Cyp21a1	A	T	17: 34,803,659	Y109N	probably damaging	Het
Dbf4	A	G	5: 8,398,134	S359P	probably benign	Het
Ddx60	A	G	8: 61,977,968	T846A	probably damaging	Het
Dnah11	A	G	12: 118,012,446	V2746A	probably benign	Het
Dnah12	G	A	14: 26,706,881	A221T	probably benign	Het
Dnajb8	C	T	6: 88,222,958	R159C	possibly damaging	Het
Dock2	A	G	11: 34,732,339		probably null	Het
Dpy19l1	T	C	9: 24,450,727	I119V	possibly damaging	Het
Dsg1c	A	G	18: 20,266,198	T120A	probably damaging	Het
Dzank1	T	C	2: 144,490,225	H397R	probably benign	Het
Fam35a	A	T	14: 34,245,216	S680T	probably benign	Het
Gaa	G	T	11: 119,270,409	A93S	possibly damaging	Het
Galnt4	G	A	10: 99,109,256	R281H	probably benign	Het
Gm13103	G	A	4: 143,851,539	W123*	probably null	Het
Gm3250	T	C	10: 77,782,457	E29G	unknown	Het
Gm5065	T	A	7: 5,359,596	D75E	possibly damaging	Het
H13	T	G	2: 152,669,602	D7E	probably benign	Het
H60c	T	A	10: 3,259,781	I140F	probably benign	Het
Hsd3b2	T	C	3: 98,713,592	N49S	probably benign	Het
Klhl11	G	T	11: 100,464,096	P300T	probably benign	Het
Knop1	C	A	7: 118,853,146	V117L		Het
Lrrc38	G	A	4: 143,350,733	G189R	probably damaging	Het
Lrrc9	A	T	12: 72,449,389	I13F	probably damaging	Het
Macf1	A	G	4: 123,440,597	S4456P	probably damaging	Het
Mkrn1	A	T	6: 39,399,355	V439D	probably damaging	Het
Muc2	T	A	7: 141,751,478	V612D		Het
Nrxn3	A	G	12: 90,204,795	N967D	probably benign	Het
Olfr1173	A	C	2: 88,274,944	V35G	probably damaging	Het
Olfr978	T	A	9: 39,994,171	D120E	probably damaging	Het
Oprm1	C	T	10: 6,838,417	P391S	probably benign	Het
Parp14	T	A	16: 35,871,214	E47V	probably benign	Het
Pikfyve	A	G	1: 65,246,395	E931G	possibly damaging	Het
Plcz1	A	T	6: 140,023,260	C151S	probably damaging	Het
Rbm26	A	G	14: 105,142,689		probably null	Het
Rffl	G	T	11: 82,812,723		probably null	Het
Sc5d	T	C	9: 42,259,798	I32V	probably benign	Het
Scube1	A	G	15: 83,629,382		probably null	Het
Slc12a6	A	G	2: 112,351,377	Y714C	probably damaging	Het
Slc26a3	A	G	12: 31,468,542	I670V	probably benign	Het
Slc8a3	A	T	12: 81,199,681	V866D	probably damaging	Het
Slco3a1	A	T	7: 74,320,590	M423K	probably benign	Het
Smc6	A	G	12: 11,299,335	E773G	probably benign	Het
Son	A	G	16: 91,655,549	T395A	possibly damaging	Het
Ss18l1	T	C	2: 180,059,362	S290P	probably damaging	Het
Tcof1	A	C	18: 60,843,303	V78G	probably damaging	Het
Thsd1	G	A	8: 22,243,902	V322M	probably benign	Het
Tln2	A	T	9: 67,346,529	C753*	probably null	Het
Trav6n-6	T	A	14: 53,133,040	F83I	probably damaging	Het
Ugt2b35	T	A	5: 87,001,443	S184R	probably damaging	Het
Upf1	A	G	8: 70,340,644	L288P	probably benign	Het
Zfp442	T	C	2: 150,408,709	I424M	unknown	Het
Zfp580	T	C	7: 5,053,115	V100A	probably benign	Het
Zfpm1	C	A	8: 122,332,094	P151Q	probably damaging	Het
Zfr2	C	T	10: 81,242,815	P294S	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
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'- CAGAAGTCTGTTATGCTGAGTGTC -3'
(R):5'- ATCAGGAAGAGACTCTCGGTG -3'

Sequencing Primer
(F):5'- TGTCTAGTCTTGAAGTCTGCTATAAC -3'
(R):5'- GCAGCAGTAGAAGCCTTTTC -3'

Posted On

2020-07-13