Mutagenetix > Incidental Mutation

Incidental Mutation 'R2203:Ttc39a'

238826

Institutional Source

Beutler Lab

Gene Symbol

Ttc39a

Ensembl Gene

ENSMUSG00000028555

Gene Name

tetratricopeptide repeat domain 39A

Synonyms

4922503N01Rik

MMRRC Submission

040205-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R2203 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

109263820-109301942 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 109288785 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Serine at position 293 (N293S)

Ref Sequence

ENSEMBL: ENSMUSP00000066334 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000064129] [ENSMUST00000106618] [ENSMUST00000124209] [ENSMUST00000153315]

AlphaFold

A2ACP1

Predicted Effect

probably benign
Transcript: ENSMUST00000064129
AA Change: N293S

PolyPhen 2 Score 0.188 (Sensitivity: 0.92; Specificity: 0.87)

SMART Domains

Protein: ENSMUSP00000066334
Gene: ENSMUSG00000028555
AA Change: N293S

Domain	Start	End	E-Value	Type
TPR	278	311	7.69e1	SMART
TPR	468	501	6.57e1	SMART
TPR	509	542	1.42e0	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000106618
AA Change: N295S

PolyPhen 2 Score 0.140 (Sensitivity: 0.92; Specificity: 0.86)

SMART Domains

Protein: ENSMUSP00000102229
Gene: ENSMUSG00000028555
AA Change: N295S

Domain	Start	End	E-Value	Type
TPR	280	313	7.69e1	SMART
TPR	470	503	6.57e1	SMART
TPR	511	544	1.42e0	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000124209

SMART Domains

Protein: ENSMUSP00000118672
Gene: ENSMUSG00000028555

Domain	Start	End	E-Value	Type
Pfam:DUF3808	1	137	6.6e-51	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000153315

SMART Domains

Protein: ENSMUSP00000117621
Gene: ENSMUSG00000028555

Domain	Start	End	E-Value	Type
Pfam:DUF3808	1	160	2.6e-53	PFAM

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.3%
20x: 95.3%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 60 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca1	G	A	4: 53,090,291 (GRCm39)	T386I	probably damaging	Het
Abcc5	C	G	16: 20,224,632 (GRCm39)	L44F	possibly damaging	Het
Abi3bp	T	G	16: 56,433,566 (GRCm39)	L550R	probably benign	Het
Brca2	T	A	5: 150,462,967 (GRCm39)	D910E	possibly damaging	Het
Cacna1h	C	T	17: 25,599,234 (GRCm39)	A1742T	probably damaging	Het
Cartpt	A	T	13: 100,037,133 (GRCm39)	S4T	probably benign	Het
Ccdc66	T	A	14: 27,208,790 (GRCm39)	D488V	probably benign	Het
Cdan1	C	A	2: 120,551,241 (GRCm39)	C1093F	probably damaging	Het
Cfap45	T	C	1: 172,359,728 (GRCm39)	V76A	probably benign	Het
Clptm1	G	T	7: 19,367,817 (GRCm39)	F598L	possibly damaging	Het
Cntrl	G	A	2: 35,033,749 (GRCm39)	V257I	possibly damaging	Het
Cpa1	A	G	6: 30,641,818 (GRCm39)	D214G	probably damaging	Het
Crebbp	A	C	16: 3,956,641 (GRCm39)	M394R	possibly damaging	Het
Ctnnd1	A	G	2: 84,447,024 (GRCm39)	L407P	probably damaging	Het
Cttnbp2	T	G	6: 18,408,693 (GRCm39)	D976A	probably benign	Het
Dicer1	C	T	12: 104,697,297 (GRCm39)	V87M	possibly damaging	Het
Elapor1	C	T	3: 108,382,359 (GRCm39)	G270E	probably damaging	Het
Fam184a	T	A	10: 53,528,530 (GRCm39)	Q29L	probably damaging	Het
Flnc	C	T	6: 29,459,507 (GRCm39)	P2536S	probably damaging	Het
Gapdh	A	T	6: 125,139,569 (GRCm39)	S165T	probably benign	Het
Gm6370	T	A	5: 146,430,539 (GRCm39)	D241E	probably benign	Het
Grik4	T	A	9: 42,458,951 (GRCm39)	S596C	probably damaging	Het
Gtf2e1	T	A	16: 37,331,904 (GRCm39)	E390D	possibly damaging	Het
Hmgcr	A	G	13: 96,793,141 (GRCm39)	L497P	probably damaging	Het
Hmgcs2	T	A	3: 98,198,499 (GRCm39)	I134N	probably damaging	Het
Htr5b	T	C	1: 121,455,693 (GRCm39)	T76A	probably damaging	Het
Iars1	A	G	13: 49,876,151 (GRCm39)	E812G	probably benign	Het
Ints8	A	T	4: 11,225,712 (GRCm39)	M615K	possibly damaging	Het
Jmjd1c	A	G	10: 67,075,242 (GRCm39)		probably null	Het
Kcnj5	T	C	9: 32,234,196 (GRCm39)	T40A	probably benign	Het
Knstrn	T	A	2: 118,661,456 (GRCm39)		probably null	Het
Map2k2	T	C	10: 80,955,213 (GRCm39)	S14P	probably damaging	Het
Med26	T	C	8: 73,249,746 (GRCm39)	E451G	probably damaging	Het
Nbeal1	T	A	1: 60,323,165 (GRCm39)	M2081K	probably benign	Het
Nectin4	G	A	1: 171,213,797 (GRCm39)	V433M	possibly damaging	Het
Nop56	T	A	2: 130,119,488 (GRCm39)	I51N	probably damaging	Het
Ntn4	C	T	10: 93,543,215 (GRCm39)	R314W	probably damaging	Het
Nudt5	A	T	2: 5,860,794 (GRCm39)	I22F	possibly damaging	Het
Or4p23	C	G	2: 88,576,953 (GRCm39)	G93A	probably benign	Het
Pbrm1	A	G	14: 30,754,406 (GRCm39)	D142G	possibly damaging	Het
Pdcl	A	T	2: 37,242,056 (GRCm39)	N231K	probably benign	Het
Pkd1	G	T	17: 24,799,863 (GRCm39)	A591S	probably benign	Het
Plcb4	T	C	2: 135,844,514 (GRCm39)	I144T	probably benign	Het
Prrc2b	C	A	2: 32,113,476 (GRCm39)	Q1970K	probably damaging	Het
Rabep1	A	C	11: 70,825,400 (GRCm39)	E689A	probably damaging	Het
Ralgapa1	T	C	12: 55,659,585 (GRCm39)		probably null	Het
Robo4	CGG	CG	9: 37,322,786 (GRCm39)		probably null	Het
Saxo1	A	C	4: 86,363,998 (GRCm39)	Y162D	probably damaging	Het
Shroom3	G	T	5: 93,090,945 (GRCm39)	V1151F	probably damaging	Het
Sipa1l2	A	T	8: 126,218,366 (GRCm39)	W324R	probably damaging	Het
Slc19a1	T	C	10: 76,877,758 (GRCm39)	C98R	possibly damaging	Het
Slc26a8	G	T	17: 28,866,981 (GRCm39)	L583I	probably benign	Het
Spata31d1d	A	G	13: 59,879,435 (GRCm39)	C34R	possibly damaging	Het
Stoml2	G	T	4: 43,030,243 (GRCm39)	Y119*	probably null	Het
Susd1	A	G	4: 59,349,843 (GRCm39)	L531P	possibly damaging	Het
Tnfsf14	T	C	17: 57,497,638 (GRCm39)	D198G	possibly damaging	Het
Ttn	T	C	2: 76,601,985 (GRCm39)	N18559S	possibly damaging	Het
Vmn2r104	A	T	17: 20,250,083 (GRCm39)	N729K	probably benign	Het
Zbtb47	A	G	9: 121,591,703 (GRCm39)	T8A	possibly damaging	Het
Zfp712	T	A	13: 67,190,048 (GRCm39)	T160S	probably benign	Het

Other mutations in Ttc39a

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00870:Ttc39a	APN	4	109,299,542 (GRCm39)	splice site	probably benign
IGL01143:Ttc39a	APN	4	109,300,010 (GRCm39)	critical splice donor site	probably null
IGL01802:Ttc39a	APN	4	109,290,281 (GRCm39)	nonsense	probably null
IGL01906:Ttc39a	APN	4	109,278,591 (GRCm39)	missense	probably benign	0.04
IGL02115:Ttc39a	APN	4	109,283,491 (GRCm39)	splice site	probably benign
IGL02415:Ttc39a	APN	4	109,288,726 (GRCm39)	unclassified	probably benign
IGL02658:Ttc39a	APN	4	109,280,090 (GRCm39)	missense	probably damaging	1.00
IGL02728:Ttc39a	APN	4	109,299,920 (GRCm39)	missense	probably damaging	1.00
IGL03281:Ttc39a	APN	4	109,290,219 (GRCm39)	missense	possibly damaging	0.84
R0030:Ttc39a	UTSW	4	109,280,170 (GRCm39)	missense	probably benign
R0103:Ttc39a	UTSW	4	109,278,650 (GRCm39)	splice site	probably null
R0194:Ttc39a	UTSW	4	109,301,376 (GRCm39)	missense	probably benign
R0561:Ttc39a	UTSW	4	109,297,799 (GRCm39)	missense	probably damaging	1.00
R0603:Ttc39a	UTSW	4	109,283,499 (GRCm39)	missense	probably damaging	1.00
R2132:Ttc39a	UTSW	4	109,299,903 (GRCm39)	missense	probably damaging	1.00
R2473:Ttc39a	UTSW	4	109,299,436 (GRCm39)	missense	probably damaging	0.97
R4449:Ttc39a	UTSW	4	109,299,500 (GRCm39)	missense	possibly damaging	0.82
R4809:Ttc39a	UTSW	4	109,273,218 (GRCm39)	nonsense	probably null
R5266:Ttc39a	UTSW	4	109,279,701 (GRCm39)	missense	probably benign	0.04
R5590:Ttc39a	UTSW	4	109,290,184 (GRCm39)	critical splice acceptor site	probably null
R5911:Ttc39a	UTSW	4	109,280,168 (GRCm39)	missense	possibly damaging	0.79
R5930:Ttc39a	UTSW	4	109,288,075 (GRCm39)	missense	probably benign
R7058:Ttc39a	UTSW	4	109,288,763 (GRCm39)	missense	probably damaging	1.00
R7771:Ttc39a	UTSW	4	109,288,647 (GRCm39)	missense	probably damaging	1.00
R7791:Ttc39a	UTSW	4	109,283,544 (GRCm39)	missense	probably benign	0.00
R7849:Ttc39a	UTSW	4	109,279,687 (GRCm39)	missense	probably benign	0.00
R8687:Ttc39a	UTSW	4	109,288,776 (GRCm39)	missense	probably damaging	0.97
R8723:Ttc39a	UTSW	4	109,300,700 (GRCm39)	splice site	probably benign
R9037:Ttc39a	UTSW	4	109,299,981 (GRCm39)	missense	probably damaging	1.00
R9626:Ttc39a	UTSW	4	109,278,570 (GRCm39)	missense	possibly damaging	0.83
X0013:Ttc39a	UTSW	4	109,290,334 (GRCm39)	missense	probably benign	0.02
Z1177:Ttc39a	UTSW	4	109,288,129 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- TTACCCGAGCAATGTACCTCC -3'
(R):5'- TTCCTATCAAAAGGCACCTCTC -3'

Sequencing Primer
(F):5'- GGTACTGGGAATGTCAACATCG -3'
(R):5'- TATCAAAAGGCACCTCTCTCCTC -3'

Posted On

2014-10-02