Mutagenetix > Incidental Mutation

Incidental Mutation 'R5911:Ttc39a'

460984

Institutional Source

Beutler Lab

Gene Symbol

Ttc39a

Ensembl Gene

ENSMUSG00000028555

Gene Name

tetratricopeptide repeat domain 39A

Synonyms

4922503N01Rik

MMRRC Submission

044108-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R5911 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

109263820-109301942 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 109280168 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Proline to Leucine at position 150 (P150L)

Ref Sequence

ENSEMBL: ENSMUSP00000102230 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000064129] [ENSMUST00000106618] [ENSMUST00000106619] [ENSMUST00000124209] [ENSMUST00000139237] [ENSMUST00000153315]

AlphaFold

A2ACP1

Predicted Effect

probably benign
Transcript: ENSMUST00000064129

SMART Domains

Protein: ENSMUSP00000066334
Gene: ENSMUSG00000028555

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

SMART Domains

Protein: ENSMUSP00000102229
Gene: ENSMUSG00000028555

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

possibly damaging
Transcript: ENSMUST00000106619
AA Change: P150L

PolyPhen 2 Score 0.793 (Sensitivity: 0.85; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000102230
Gene: ENSMUSG00000028555
AA Change: P150L

Domain	Start	End	E-Value	Type
Pfam:DUF3808	27	143	1e-38	PFAM

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

noncoding transcript
Transcript: ENSMUST00000126797

Predicted Effect

probably benign
Transcript: ENSMUST00000139237

SMART Domains

Protein: ENSMUSP00000121779
Gene: ENSMUSG00000028555

Domain	Start	End	E-Value	Type
Pfam:DUF3808	1	109	7.2e-40	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000150909

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

Meta Mutation Damage Score

0.1795

Coding Region Coverage

1x: 99.9%
3x: 99.6%
10x: 98.1%
20x: 94.4%

Validation Efficiency

92% (77/84)

Allele List at MGI

Other mutations in this stock

Total: 66 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700003H04Rik	C	T	3: 124,350,380 (GRCm39)		probably benign	Het
Acacb	A	T	5: 114,370,951 (GRCm39)	D1731V	probably damaging	Het
Afg3l1	G	A	8: 124,226,778 (GRCm39)	V563I	possibly damaging	Het
Ak7	A	G	12: 105,692,471 (GRCm39)	E175G	probably damaging	Het
Arhgap5	C	T	12: 52,565,525 (GRCm39)	T832I	possibly damaging	Het
Arid4a	A	T	12: 71,116,747 (GRCm39)	T602S	probably damaging	Het
Caps2	C	T	10: 112,001,591 (GRCm39)		probably benign	Het
Ccdc170	G	T	10: 4,508,551 (GRCm39)	E592*	probably null	Het
Clasp1	C	A	1: 118,434,638 (GRCm39)		probably benign	Het
Crhbp	T	A	13: 95,568,564 (GRCm39)	M291L	probably benign	Het
Cyp3a41b	T	A	5: 145,519,349 (GRCm39)	L47F	probably benign	Het
Dgcr6	A	G	16: 17,884,598 (GRCm39)	D82G	probably damaging	Het
Drc7	A	G	8: 95,800,754 (GRCm39)	E592G	probably damaging	Het
Dtl	G	A	1: 191,300,519 (GRCm39)	T115I	probably damaging	Het
Ece2	A	G	16: 20,457,510 (GRCm39)	Y338C	probably damaging	Het
Egr3	A	G	14: 70,316,897 (GRCm39)	D198G	probably damaging	Het
Ereg	A	C	5: 91,222,552 (GRCm39)		probably benign	Het
Esp31	G	C	17: 38,951,933 (GRCm39)		probably null	Het
Faap100	T	C	11: 120,267,958 (GRCm39)	I272V	possibly damaging	Het
Fam3c	T	C	6: 22,328,560 (GRCm39)	D109G	probably damaging	Het
Fam3c	T	A	6: 22,339,299 (GRCm39)	M51L	probably benign	Het
Fcnb	A	T	2: 27,966,701 (GRCm39)	N277K	probably damaging	Het
Fgfr1	A	G	8: 26,009,325 (GRCm39)		probably benign	Het
Gpr158	T	C	2: 21,373,932 (GRCm39)	F289S	possibly damaging	Het
Grik4	C	A	9: 42,502,720 (GRCm39)	V468F	probably damaging	Het
Gtdc1	T	A	2: 44,642,076 (GRCm39)	R168S	probably benign	Het
Gucy2c	C	T	6: 136,699,440 (GRCm39)	G610R	probably damaging	Het
Gulp1	A	T	1: 44,793,534 (GRCm39)	Q65L	possibly damaging	Het
Hectd1	A	T	12: 51,849,035 (GRCm39)	D356E	probably damaging	Het
Hnrnpu	T	C	1: 178,157,737 (GRCm39)		probably benign	Het
Igkv13-57-2	T	C	6: 69,500,971 (GRCm39)		noncoding transcript	Het
Itih4	A	G	14: 30,612,612 (GRCm39)	I213V	possibly damaging	Het
Itpr2	T	C	6: 146,214,441 (GRCm39)	K1469E	probably benign	Het
Jkampl	T	C	6: 73,445,674 (GRCm39)	T292A	probably damaging	Het
Jrk	T	C	15: 74,577,617 (GRCm39)	D556G	possibly damaging	Het
Kctd16	A	T	18: 40,663,905 (GRCm39)	I345F	probably benign	Het
Klhdc1	A	G	12: 69,303,025 (GRCm39)	E187G	possibly damaging	Het
Lrch3	T	C	16: 32,779,833 (GRCm39)	Y111H	probably damaging	Het
Mlh3	A	T	12: 85,315,229 (GRCm39)	V319D	probably damaging	Het
Nsd3	T	C	8: 26,156,092 (GRCm39)	L553P	probably damaging	Het
Or1e23	T	A	11: 73,407,351 (GRCm39)	I225F	probably damaging	Het
Or51q1	A	T	7: 103,628,915 (GRCm39)	H172L	probably benign	Het
Or5d38	C	T	2: 87,955,027 (GRCm39)	V101I	probably benign	Het
Or5e1	T	A	7: 108,354,882 (GRCm39)	I273N	probably benign	Het
Or5p66	T	A	7: 107,885,605 (GRCm39)	T243S	probably damaging	Het
Or7g26	T	C	9: 19,230,445 (GRCm39)	I205T	probably benign	Het
Pelp1	C	T	11: 70,287,740 (GRCm39)	R394H	probably damaging	Het
Ppp1r13l	G	T	7: 19,109,817 (GRCm39)		probably null	Het
Prr5	C	A	15: 84,585,635 (GRCm39)	S201*	probably null	Het
Rad23b	T	A	4: 55,370,474 (GRCm39)		probably null	Het
Rasgef1a	T	A	6: 118,061,335 (GRCm39)		probably null	Het
Ryr3	A	T	2: 112,738,832 (GRCm39)	I565N	probably damaging	Het
Slc30a5	T	C	13: 100,945,600 (GRCm39)	N527S	probably damaging	Het
Slc39a5	T	A	10: 128,235,812 (GRCm39)	N49Y	probably damaging	Het
Spast	T	A	17: 74,694,058 (GRCm39)	S571T	probably benign	Het
Spdye4c	C	T	2: 128,437,994 (GRCm39)	R245*	probably null	Het
Tbc1d2	C	T	4: 46,629,912 (GRCm39)	G252R	probably benign	Het
Tgm7	T	A	2: 120,926,454 (GRCm39)	D480V	probably benign	Het
Thpo	T	A	16: 20,547,546 (GRCm39)	S22C	probably null	Het
Top2a	T	A	11: 98,907,291 (GRCm39)	T180S	possibly damaging	Het
Trim37	T	A	11: 87,087,663 (GRCm39)	Y34*	probably null	Het
Tsc2	T	C	17: 24,819,361 (GRCm39)	E1254G	possibly damaging	Het
Ttc4	T	C	4: 106,525,240 (GRCm39)	D298G	probably damaging	Het
Ttll1	A	G	15: 83,386,482 (GRCm39)	V41A	probably benign	Het
Vmn1r20	C	A	6: 57,408,774 (GRCm39)	H33Q	probably benign	Het
Zan	A	T	5: 137,456,174 (GRCm39)	Y1329N	unknown	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
R2203:Ttc39a	UTSW	4	109,288,785 (GRCm39)	missense	probably benign	0.19
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
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'- CAGAGGGAATGTGGCTTTGC -3'
(R):5'- TCTGTGACAATGCCTGTGTC -3'

Sequencing Primer
(F):5'- GCTTGAGCCTCCTGCCTAG -3'
(R):5'- AATGCCTGTGTCCACGTGAG -3'

Posted On

2017-02-28