Mutagenetix > Incidental Mutation

Incidental Mutation 'R9531:Ttc24'

719472

Institutional Source

Beutler Lab

Gene Symbol

Ttc24

Ensembl Gene

ENSMUSG00000051036

Gene Name

tetratricopeptide repeat domain 24

Synonyms

A430025D11Rik

MMRRC Submission

Accession Numbers

Essential gene?

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

Stock #

R9531 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

87976717-87985611 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 87978416 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Proline at position 252 (S252P)

Ref Sequence

ENSEMBL: ENSMUSP00000061571 (fasta)

Gene Model

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

AlphaFold

Q8BYG0

Predicted Effect

possibly damaging
Transcript: ENSMUST00000050258
AA Change: S252P

PolyPhen 2 Score 0.789 (Sensitivity: 0.85; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000061571
Gene: ENSMUSG00000051036
AA Change: S252P

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

possibly damaging
Transcript: ENSMUST00000064550
AA Change: S54P

PolyPhen 2 Score 0.827 (Sensitivity: 0.84; Specificity: 0.93)

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 98.9%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 36 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acvr2b	T	A	9: 119,260,392 (GRCm39)	D354E	probably benign	Het
Atf7ip	T	G	6: 136,537,875 (GRCm39)	S369R	probably benign	Het
B4galnt3	A	G	6: 120,180,802 (GRCm39)	M977T	probably damaging	Het
Bin1	A	T	18: 32,510,539 (GRCm39)	E27V	probably benign	Het
Cacna1a	T	A	8: 85,320,801 (GRCm39)	F1586L	probably benign	Het
Cdh18	T	A	15: 23,436,562 (GRCm39)	S473T	probably benign	Het
Chd7	T	C	4: 8,858,489 (GRCm39)	M151T		Het
Dhodh	T	C	8: 110,321,623 (GRCm39)	T300A	probably benign	Het
Etl4	A	G	2: 20,294,818 (GRCm39)	M1V	probably null	Het
Ezh1	G	A	11: 101,104,657 (GRCm39)	T130M	probably damaging	Het
Fshb	T	C	2: 106,887,692 (GRCm39)	D109G	probably benign	Het
Grm5	T	C	7: 87,780,075 (GRCm39)	*1204R	probably null	Het
Itpkb	T	G	1: 180,161,374 (GRCm39)	V500G	probably benign	Het
Jakmip1	C	A	5: 37,332,407 (GRCm39)	T1029N	probably damaging	Het
Kdsr	T	C	1: 106,667,063 (GRCm39)	K231E	probably damaging	Het
Klb	G	A	5: 65,540,948 (GRCm39)	V1014I		Het
Kng2	A	G	16: 22,830,907 (GRCm39)	I134T	possibly damaging	Het
Lct	T	C	1: 128,235,598 (GRCm39)	S470G	probably benign	Het
Med1	A	G	11: 98,048,321 (GRCm39)	V825A	probably damaging	Het
Mfap3l	C	G	8: 61,109,787 (GRCm39)	D54E	probably damaging	Het
Mrc2	A	G	11: 105,240,731 (GRCm39)	M1474V	possibly damaging	Het
Mrpl15	T	C	1: 4,847,757 (GRCm39)	R181G	probably benign	Het
Nek4	T	C	14: 30,692,307 (GRCm39)	V377A	probably benign	Het
Or5b121	T	C	19: 13,507,936 (GRCm39)	F344L	probably benign	Het
Pgap3	A	G	11: 98,288,823 (GRCm39)	S111P	probably damaging	Het
Piezo2	G	A	18: 63,235,236 (GRCm39)	T787M	possibly damaging	Het
Pik3c2g	A	C	6: 139,841,926 (GRCm39)	K777T		Het
Pkd1	C	T	17: 24,792,114 (GRCm39)	T1267I	probably damaging	Het
Ros1	T	C	10: 52,007,063 (GRCm39)	D835G	probably damaging	Het
Slc4a10	T	A	2: 62,099,154 (GRCm39)	I634N	probably damaging	Het
Slc8a3	A	T	12: 81,361,997 (GRCm39)	I274N	probably damaging	Het
Steap4	A	G	5: 8,028,424 (GRCm39)	D334G	probably benign	Het
Tbc1d30	A	G	10: 121,183,105 (GRCm39)	L111P	probably damaging	Het
Ubr4	A	G	4: 139,135,217 (GRCm39)	T850A	probably benign	Het
Zbbx	A	G	3: 74,985,865 (GRCm39)	S396P	probably damaging	Het
Zkscan2	A	T	7: 123,088,837 (GRCm39)	I478N	probably damaging	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
R4112:Ttc24	UTSW	3	87,981,946 (GRCm39)	missense	probably damaging	0.99
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
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'- AAATGTGGGAGAGCTGCTGC -3'
(R):5'- TCAGCCAGGGTACAAAGTAGTG -3'

Sequencing Primer
(F):5'- CCAGAGGTGGGTGGCAG -3'
(R):5'- CCAGGGTACAAAGTAGTGCAGAAG -3'

Posted On

2022-07-18