Mutagenetix > Incidental Mutation

Incidental Mutation 'R7413:Ttc39c'

575247

Institutional Source

Beutler Lab

Gene Symbol

Ttc39c

Ensembl Gene

ENSMUSG00000024424

Gene Name

tetratricopeptide repeat domain 39C

Synonyms

1700008N02Rik, 2810439F02Rik

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.089) question?

Stock #

R7413 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

12732953-12871920 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 12861746 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Lysine to Arginine at position 416 (K416R)

Ref Sequence

ENSEMBL: ENSMUSP00000025294 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000025294] [ENSMUST00000169401]

AlphaFold

no structure available at present

Predicted Effect

possibly damaging
Transcript: ENSMUST00000025294
AA Change: K416R

PolyPhen 2 Score 0.652 (Sensitivity: 0.87; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000025294
Gene: ENSMUSG00000024424
AA Change: K416R

Domain	Start	End	E-Value	Type
Pfam:DUF3808	31	495	7.3e-140	PFAM

Predicted Effect

possibly damaging
Transcript: ENSMUST00000169401
AA Change: K358R

PolyPhen 2 Score 0.652 (Sensitivity: 0.87; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000133127
Gene: ENSMUSG00000024424
AA Change: K358R

Domain	Start	End	E-Value	Type
Pfam:DUF3808	1	437	1.6e-134	PFAM

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.7%
20x: 99.2%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 62 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A1cf	T	C	19: 31,895,524 (GRCm39)		probably null	Het
Agbl4	A	T	4: 111,514,495 (GRCm39)	D502V	probably benign	Het
Akap5	T	A	12: 76,375,678 (GRCm39)	V370E	possibly damaging	Het
Alms1	T	C	6: 85,605,288 (GRCm39)	C1844R	probably benign	Het
Apaf1	T	C	10: 90,831,542 (GRCm39)	K1191E	probably benign	Het
Bsn	C	T	9: 108,016,690 (GRCm39)	R107Q	possibly damaging	Het
Catsperb	G	T	12: 101,447,307 (GRCm39)	R269L	probably damaging	Het
Ccer1	T	C	10: 97,529,804 (GRCm39)	S156P	unknown	Het
Cdh16	C	T	8: 105,346,572 (GRCm39)	A241T	probably benign	Het
Cdk5rap2	A	G	4: 70,172,972 (GRCm39)	S1367P	probably damaging	Het
Cds2	C	T	2: 132,135,235 (GRCm39)	P42L	probably benign	Het
Col15a1	T	C	4: 47,245,431 (GRCm39)	Y61H	possibly damaging	Het
Dclre1a	G	A	19: 56,531,082 (GRCm39)	P755S	probably damaging	Het
Ddi1	A	T	9: 6,265,670 (GRCm39)	M233K	probably damaging	Het
Dpp4	T	C	2: 62,187,333 (GRCm39)	Y474C	probably damaging	Het
Epha7	T	A	4: 28,871,838 (GRCm39)	M389K	probably benign	Het
Ephb3	T	C	16: 21,033,457 (GRCm39)	F181S	probably damaging	Het
Epor	G	A	9: 21,874,776 (GRCm39)		probably benign	Het
Fbp2	C	A	13: 62,985,067 (GRCm39)	V285L	probably benign	Het
Flnc	A	T	6: 29,452,258 (GRCm39)	D1694V	probably damaging	Het
Ganab	T	A	19: 8,882,339 (GRCm39)	M98K	probably benign	Het
Gcm2	A	G	13: 41,259,230 (GRCm39)	S80P	probably damaging	Het
Gls	A	G	1: 52,254,735 (GRCm39)	S247P	probably benign	Het
Gne	T	C	4: 44,044,857 (GRCm39)	N426D	probably benign	Het
Ifne	A	T	4: 88,797,840 (GRCm39)	*193R	probably null	Het
Igf2r	G	T	17: 12,917,115 (GRCm39)	S1595*	probably null	Het
Krt26	C	T	11: 99,225,887 (GRCm39)	M226I	probably benign	Het
Lars2	G	A	9: 123,288,568 (GRCm39)	V805I	probably benign	Het
Lrrc57	C	A	2: 120,436,577 (GRCm39)	R177L	probably damaging	Het
Lrrn1	A	G	6: 107,546,083 (GRCm39)	E627G	probably benign	Het
Magel2	CCCTCCTCCTCCTCCTCCTCCT	CCCTCCTCCTCCTCCTCCT	7: 62,027,592 (GRCm39)		probably benign	Het
Mdga1	A	T	17: 30,069,647 (GRCm39)	V133E	probably damaging	Het
Med12l	A	G	3: 58,998,971 (GRCm39)	T644A	probably benign	Het
Meis1	T	A	11: 18,938,357 (GRCm39)	D218V	probably damaging	Het
Myo15b	A	G	11: 115,768,970 (GRCm39)	E1439G		Het
Naa12	T	C	18: 80,254,874 (GRCm39)	V56A	possibly damaging	Het
Nckipsd	G	A	9: 108,691,280 (GRCm39)	V401I	probably benign	Het
Nrg3	T	C	14: 38,092,669 (GRCm39)	I655V	probably damaging	Het
Oprm1	A	T	10: 6,778,919 (GRCm39)	I107F	probably damaging	Het
Or4k42	A	C	2: 111,319,933 (GRCm39)	I190R	probably benign	Het
Or52n3	A	T	7: 104,530,057 (GRCm39)	I48F	probably benign	Het
Or5p51	T	C	7: 107,444,721 (GRCm39)	D73G	probably damaging	Het
Osbpl7	T	C	11: 96,945,704 (GRCm39)		probably null	Het
Pcdh18	T	G	3: 49,699,232 (GRCm39)	S1077R	possibly damaging	Het
Pcdhb16	A	T	18: 37,611,975 (GRCm39)	K312*	probably null	Het
Plekhh2	A	T	17: 84,873,724 (GRCm39)	E336D	probably benign	Het
Ptprd	A	T	4: 76,165,076 (GRCm39)	S49T	probably benign	Het
Pxdn	A	G	12: 30,052,927 (GRCm39)	I1035V	probably benign	Het
Rlf	C	T	4: 121,007,297 (GRCm39)	G671D	probably damaging	Het
Rsf1	GGCGGCGGC	GGCGGCGGCCGCGGCGGC	7: 97,229,128 (GRCm39)		probably benign	Het
Selenbp2	A	G	3: 94,607,404 (GRCm39)	Q275R	probably benign	Het
Slc10a1	G	T	12: 81,007,396 (GRCm39)	F128L	probably benign	Het
Slitrk1	A	T	14: 109,149,357 (GRCm39)	Y451*	probably null	Het
Spata31f3	TCATTCAACACTTTGGAGAGCTCTGAACTCTGGCCATTCAACACTTTGGAGAGCTCTGAACTCTGGCCATTCAACACTTTGGAGAGCTCTGAACTCTGGTCATTCAACACTTTGG	TCATTCAACACTTTGGAGAGCTCTGAACTCTGGCCATTCAACACTTTGGAGAGCTCTGAACTCTGGTCATTCAACACTTTGG	4: 42,871,823 (GRCm39)		probably benign	Het
Stambpl1	G	C	19: 34,204,116 (GRCm39)	G69R	probably damaging	Het
Surf4	G	T	2: 26,814,455 (GRCm39)	R149S	probably benign	Het
Tmem151a	T	C	19: 5,132,702 (GRCm39)	Y168C	probably damaging	Het
Tut4	T	C	4: 108,406,533 (GRCm39)	I1367T	possibly damaging	Het
Vit	T	C	17: 78,932,309 (GRCm39)	I472T	probably damaging	Het
Vmn1r212	A	C	13: 23,067,718 (GRCm39)	L205R	probably damaging	Het
Wscd2	T	C	5: 113,715,402 (GRCm39)	I414T	probably benign	Het
Zfp1005	A	C	2: 150,108,081 (GRCm39)	T14P	possibly damaging	Het

Other mutations in Ttc39c

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00976:Ttc39c	APN	18	12,817,952 (GRCm39)	splice site	probably benign
IGL02323:Ttc39c	APN	18	12,869,800 (GRCm39)	missense	probably null	0.79
R1628:Ttc39c	UTSW	18	12,867,936 (GRCm39)	splice site	probably benign
R1771:Ttc39c	UTSW	18	12,817,881 (GRCm39)	splice site	probably null
R2002:Ttc39c	UTSW	18	12,830,935 (GRCm39)	splice site	probably null
R4162:Ttc39c	UTSW	18	12,857,994 (GRCm39)	critical splice acceptor site	probably null
R4344:Ttc39c	UTSW	18	12,861,667 (GRCm39)	splice site	probably null
R4484:Ttc39c	UTSW	18	12,863,126 (GRCm39)	missense	possibly damaging	0.90
R4752:Ttc39c	UTSW	18	12,861,782 (GRCm39)	missense	probably benign	0.05
R4872:Ttc39c	UTSW	18	12,820,173 (GRCm39)	intron	probably benign
R4912:Ttc39c	UTSW	18	12,867,951 (GRCm39)	missense	probably benign	0.00
R4946:Ttc39c	UTSW	18	12,857,999 (GRCm39)	nonsense	probably null
R5036:Ttc39c	UTSW	18	12,820,138 (GRCm39)	critical splice donor site	probably null
R5439:Ttc39c	UTSW	18	12,828,428 (GRCm39)	missense	possibly damaging	0.88
R5726:Ttc39c	UTSW	18	12,830,992 (GRCm39)	missense	probably damaging	1.00
R7213:Ttc39c	UTSW	18	12,820,138 (GRCm39)	critical splice donor site	probably null
R7400:Ttc39c	UTSW	18	12,776,856 (GRCm39)	intron	probably benign
R7567:Ttc39c	UTSW	18	12,822,936 (GRCm39)	missense	probably benign	0.01
R7979:Ttc39c	UTSW	18	12,866,022 (GRCm39)	missense	probably benign
R8769:Ttc39c	UTSW	18	12,828,545 (GRCm39)	missense	probably damaging	1.00
R8824:Ttc39c	UTSW	18	12,820,003 (GRCm39)	splice site	probably benign
R8827:Ttc39c	UTSW	18	12,828,436 (GRCm39)	missense	probably benign
R8855:Ttc39c	UTSW	18	12,831,003 (GRCm39)	missense	probably benign	0.30
R8866:Ttc39c	UTSW	18	12,831,003 (GRCm39)	missense	probably benign	0.30
R8996:Ttc39c	UTSW	18	12,820,136 (GRCm39)	missense	probably benign	0.00
R9349:Ttc39c	UTSW	18	12,822,932 (GRCm39)	nonsense	probably null
R9356:Ttc39c	UTSW	18	12,853,102 (GRCm39)	critical splice donor site	probably null
R9797:Ttc39c	UTSW	18	12,828,542 (GRCm39)	missense	probably damaging	1.00
Z1088:Ttc39c	UTSW	18	12,820,020 (GRCm39)	missense	possibly damaging	0.90

Predicted Primers

PCR Primer
(F):5'- AGGTGTGGTTCTCATCAGC -3'
(R):5'- AAATCAACCCTGCTGTAGCC -3'

Sequencing Primer
(F):5'- CTGAGAGCTGTACATTGTACCCAG -3'
(R):5'- GCATGGCTGATAAGCTCT -3'

Posted On

2019-10-07