Mutagenetix > Incidental Mutation

Incidental Mutation 'R4112:Ttc24'

314446

Institutional Source

Beutler Lab

Gene Symbol

Ttc24

Ensembl Gene

ENSMUSG00000051036

Gene Name

tetratricopeptide repeat domain 24

Synonyms

A430025D11Rik

MMRRC Submission

040989-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.050) question?

Stock #

R4112 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

87976717-87985611 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 87981946 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Valine at position 40 (D40V)

Ref Sequence

ENSEMBL: ENSMUSP00000061571 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000050258] [ENSMUST00000064550]

AlphaFold

Q8BYG0

Predicted Effect

probably damaging
Transcript: ENSMUST00000050258
AA Change: D40V

PolyPhen 2 Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000061571
Gene: ENSMUSG00000051036
AA Change: D40V

Domain	Start	End	E-Value	Type
TPR	35	68	3.5e0	SMART
TPR	72	105	4.09e-1	SMART
TPR	112	145	3.41e1	SMART
TPR	152	185	6.95e-4	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000064550

Meta Mutation Damage Score

0.6754

Coding Region Coverage

1x: 99.2%
3x: 98.7%
10x: 97.6%
20x: 96.3%

Validation Efficiency

97% (56/58)

Allele List at MGI

Other mutations in this stock

Total: 52 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700012B07Rik	G	T	11: 109,684,980 (GRCm39)	C172*	probably null	Het
Aamp	A	G	1: 74,320,386 (GRCm39)		probably benign	Het
Abcb4	A	G	5: 8,986,783 (GRCm39)		probably null	Het
Adam6b	T	A	12: 113,453,256 (GRCm39)	F24L	possibly damaging	Het
Alms1	G	A	6: 85,597,870 (GRCm39)	V1368I	probably benign	Het
Angpt2	T	A	8: 18,749,139 (GRCm39)	Q326L	probably damaging	Het
Armc9	T	A	1: 86,116,661 (GRCm39)	I327N	possibly damaging	Het
Bace2	A	G	16: 97,237,856 (GRCm39)	T436A	probably benign	Het
Ccdc162	T	A	10: 41,532,324 (GRCm39)	E450V	possibly damaging	Het
Ccdc7b	G	T	8: 129,811,708 (GRCm39)		probably benign	Het
Cdh17	T	C	4: 11,814,628 (GRCm39)	S728P	probably damaging	Het
Chia1	T	C	3: 106,035,844 (GRCm39)	L168P	probably damaging	Het
Cnot1	A	C	8: 96,500,246 (GRCm39)	L111V	probably damaging	Het
Col14a1	A	T	15: 55,226,955 (GRCm39)	N235I	unknown	Het
Col2a1	A	C	15: 97,881,582 (GRCm39)	L787R	probably benign	Het
Cyp3a25	A	T	5: 145,939,841 (GRCm39)	D55E	probably benign	Het
Dennd6a	A	T	14: 26,349,673 (GRCm39)		probably benign	Het
Dnajc28	G	A	16: 91,413,755 (GRCm39)	T187M	probably damaging	Het
Etfbkmt	T	C	6: 149,046,089 (GRCm39)		probably benign	Het
Etfrf1	T	C	6: 145,161,098 (GRCm39)	Y23H	probably damaging	Het
Gemin4	T	A	11: 76,103,645 (GRCm39)	E372V	probably damaging	Het
Glyr1	T	C	16: 4,836,350 (GRCm39)	K500E	possibly damaging	Het
Gm10271	A	T	10: 116,803,943 (GRCm39)		probably benign	Het
Gm20775	A	T	Y: 10,641,878 (GRCm39)		noncoding transcript	Het
Gm5578	A	G	6: 112,583,466 (GRCm39)		noncoding transcript	Het
Gxylt2	A	G	6: 100,760,167 (GRCm39)	N234S	probably damaging	Het
Kcna6	G	C	6: 126,716,737 (GRCm39)	R51G	probably damaging	Het
Klf17	A	G	4: 117,617,898 (GRCm39)	V153A	possibly damaging	Het
L3mbtl2	T	C	15: 81,566,170 (GRCm39)	V331A	possibly damaging	Het
Med1	A	T	11: 98,070,913 (GRCm39)	V110E	probably damaging	Het
Nsmaf	A	C	4: 6,417,188 (GRCm39)	Y535*	probably null	Het
Pcdh10	G	A	3: 45,336,055 (GRCm39)	V790M	probably damaging	Het
Phlpp1	A	G	1: 106,292,068 (GRCm39)	T976A	probably damaging	Het
Prelid3a	T	C	18: 67,605,967 (GRCm39)	Y25H	probably damaging	Het
Ptprk	T	A	10: 28,351,284 (GRCm39)		probably null	Het
Rbm5	A	T	9: 107,642,796 (GRCm39)	D79E	probably damaging	Het
Rhox3f	G	T	X: 36,763,672 (GRCm39)	E140*	probably null	Het
Rnd3	T	A	2: 51,038,242 (GRCm39)	T78S	possibly damaging	Het
Scart2	G	T	7: 139,878,281 (GRCm39)	G1003*	probably null	Het
Sgca	T	C	11: 94,863,396 (GRCm39)	T27A	possibly damaging	Het
Slc10a2	C	T	8: 5,155,135 (GRCm39)	D17N	probably benign	Het
Snap23	C	T	2: 120,414,856 (GRCm39)		probably benign	Het
Sptb	T	A	12: 76,644,553 (GRCm39)	T2098S	probably damaging	Het
Src	T	A	2: 157,304,946 (GRCm39)	L165H	probably damaging	Het
Srr	G	T	11: 74,803,898 (GRCm39)	Q20K	probably benign	Het
Stt3b	A	T	9: 115,095,206 (GRCm39)	F275Y	probably damaging	Het
Sucnr1	C	G	3: 59,994,215 (GRCm39)	R248G	probably damaging	Het
Thsd7b	A	T	1: 130,044,356 (GRCm39)	D1112V	probably benign	Het
Tmem80	A	G	7: 140,913,692 (GRCm39)		probably benign	Het
Top2a	C	A	11: 98,913,786 (GRCm39)	K18N	probably damaging	Het
Vmn2r129	G	T	4: 156,686,692 (GRCm39)		noncoding transcript	Het
Zfp3	T	A	11: 70,662,333 (GRCm39)	S97R	probably benign	Het

Other mutations in Ttc24

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01896:Ttc24	APN	3	87,977,720 (GRCm39)	critical splice acceptor site	probably null
IGL03069:Ttc24	APN	3	87,977,408 (GRCm39)	missense	probably benign	0.07
R0153:Ttc24	UTSW	3	87,982,234 (GRCm39)	unclassified	probably benign
R1626:Ttc24	UTSW	3	87,977,366 (GRCm39)	missense	probably benign	0.00
R1735:Ttc24	UTSW	3	87,980,401 (GRCm39)	splice site	probably null
R1938:Ttc24	UTSW	3	87,982,181 (GRCm39)	missense	probably benign	0.28
R4200:Ttc24	UTSW	3	87,981,824 (GRCm39)	missense	probably benign	0.01
R7600:Ttc24	UTSW	3	87,979,320 (GRCm39)	start codon destroyed	probably null
R7939:Ttc24	UTSW	3	87,981,945 (GRCm39)	missense	possibly damaging	0.83
R8432:Ttc24	UTSW	3	87,977,366 (GRCm39)	missense	probably benign	0.15
R8519:Ttc24	UTSW	3	87,980,369 (GRCm39)	missense	probably damaging	1.00
R8784:Ttc24	UTSW	3	87,980,033 (GRCm39)	nonsense	probably null
R9164:Ttc24	UTSW	3	87,980,295 (GRCm39)	nonsense	probably null
R9370:Ttc24	UTSW	3	87,980,136 (GRCm39)	missense	probably benign	0.20
R9531:Ttc24	UTSW	3	87,978,416 (GRCm39)	missense	possibly damaging	0.79
Z1176:Ttc24	UTSW	3	87,979,293 (GRCm39)	missense	probably benign	0.06
Z1176:Ttc24	UTSW	3	87,978,365 (GRCm39)	frame shift	probably null

Predicted Primers

PCR Primer
(F):5'- GCAGCCTTCTGGTGAAACTC -3'
(R):5'- AAGCTTGCTGATGCTGACC -3'

Sequencing Primer
(F):5'- CCTTCTGGTGAAACTCCTGGG -3'
(R):5'- CTAGGTGAGCCTTAGTAAACAAGGTG -3'

Posted On

2015-05-14