Mutagenetix > Incidental Mutation

Incidental Mutation 'R6036:Ttc23'

479208

Institutional Source

Beutler Lab

Gene Symbol

Ttc23

Ensembl Gene

ENSMUSG00000030555

Gene Name

tetratricopeptide repeat domain 23

Synonyms

1600012K10Rik

MMRRC Submission

043257-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.051) question?

Stock #

R6036 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

67295180-67378370 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 67361114 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Valine at position 378 (I378V)

Ref Sequence

ENSEMBL: ENSMUSP00000032774 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000032774] [ENSMUST00000107470] [ENSMUST00000107471]

AlphaFold

Q8CHY7

Predicted Effect

possibly damaging
Transcript: ENSMUST00000032774
AA Change: I378V

PolyPhen 2 Score 0.851 (Sensitivity: 0.83; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000032774
Gene: ENSMUSG00000030555
AA Change: I378V

Domain	Start	End	E-Value	Type
Blast:TPR	45	78	5e-10	BLAST
SCOP:d1a17__	50	214	6e-8	SMART
Blast:TPR	87	121	3e-10	BLAST
Blast:TPR	137	170	3e-8	BLAST
Blast:TPR	186	219	1e-6	BLAST
low complexity region	310	323	N/A	INTRINSIC
Blast:TPR	398	431	5e-8	BLAST

Predicted Effect

possibly damaging
Transcript: ENSMUST00000107470
AA Change: I336V

PolyPhen 2 Score 0.762 (Sensitivity: 0.85; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000103094
Gene: ENSMUSG00000030555
AA Change: I336V

Domain	Start	End	E-Value	Type
Blast:TPR	45	78	4e-10	BLAST
Blast:TPR	87	121	2e-10	BLAST
Blast:TPR	137	170	3e-8	BLAST
Pfam:TPR_12	185	257	5.9e-10	PFAM
low complexity region	268	281	N/A	INTRINSIC
Blast:TPR	356	389	5e-8	BLAST

Predicted Effect

possibly damaging
Transcript: ENSMUST00000107471
AA Change: I336V

PolyPhen 2 Score 0.762 (Sensitivity: 0.85; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000103095
Gene: ENSMUSG00000030555
AA Change: I336V

Domain	Start	End	E-Value	Type
Blast:TPR	45	78	4e-10	BLAST
Blast:TPR	87	121	2e-10	BLAST
Blast:TPR	137	170	3e-8	BLAST
Pfam:TPR_12	185	257	5.9e-10	PFAM
low complexity region	268	281	N/A	INTRINSIC
Blast:TPR	356	389	5e-8	BLAST

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000126093

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000137919

Predicted Effect

unknown
Transcript: ENSMUST00000208764
AA Change: I184V

Coding Region Coverage

1x: 99.8%
3x: 99.0%
10x: 92.6%
20x: 72.9%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 48 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abi3	T	C	11: 95,723,684 (GRCm39)		probably benign	Het
Ago1	C	T	4: 126,337,021 (GRCm39)	R228H	probably damaging	Het
Alpk3	G	A	7: 80,743,005 (GRCm39)	V941M	probably benign	Het
Ano4	A	G	10: 88,818,127 (GRCm39)	W588R	possibly damaging	Het
Atp6v1a	A	G	16: 43,919,194 (GRCm39)	Y464H	probably benign	Het
Barx2	A	T	9: 31,824,304 (GRCm39)	D28E	probably damaging	Het
Cabp5	A	T	7: 13,135,260 (GRCm39)	M67L	probably damaging	Het
Col10a1	A	G	10: 34,271,278 (GRCm39)	T417A	probably benign	Het
Dnah2	C	T	11: 69,349,746 (GRCm39)	R2399Q	probably benign	Het
Eif4enif1	T	C	11: 3,189,420 (GRCm39)	S227P	probably damaging	Het
Erv3	G	A	2: 131,697,925 (GRCm39)	H145Y	possibly damaging	Het
Exoc5	T	C	14: 49,251,779 (GRCm39)	T591A	possibly damaging	Het
F5	A	T	1: 164,012,565 (GRCm39)	E493V	probably damaging	Het
Gm8444	G	T	15: 81,727,794 (GRCm39)		probably benign	Het
Gria4	T	A	9: 4,537,646 (GRCm39)	I221L	probably benign	Het
H2bc13	A	T	13: 21,900,148 (GRCm39)	S56T	probably damaging	Het
Hc	T	C	2: 34,929,696 (GRCm39)	T249A	probably benign	Het
Herc2	A	G	7: 55,717,801 (GRCm39)	T48A	probably benign	Het
Hp	A	G	8: 110,303,406 (GRCm39)		probably null	Het
Ifna15	T	G	4: 88,476,310 (GRCm39)	D58A	possibly damaging	Het
Kcnj1	A	T	9: 32,308,421 (GRCm39)	M262L	probably benign	Het
Krt87	A	C	15: 101,385,412 (GRCm39)	I320S	possibly damaging	Het
Megf10	A	G	18: 57,375,799 (GRCm39)	N242D	probably damaging	Het
Nup155	A	G	15: 8,157,895 (GRCm39)	T451A	probably benign	Het
Or2ag2b	A	T	7: 106,417,667 (GRCm39)	I126F	probably damaging	Het
Or4g7	T	C	2: 111,309,333 (GRCm39)	L68P	probably damaging	Het
Or4k35	C	T	2: 111,099,957 (GRCm39)	G252R	probably damaging	Het
Or51a25	T	A	7: 102,373,692 (GRCm39)	I2F	probably benign	Het
Or8d23	A	G	9: 38,842,216 (GRCm39)	I250V	probably damaging	Het
Pdzd8	G	A	19: 59,293,641 (GRCm39)	P403S	probably damaging	Het
Piezo2	G	A	18: 63,248,019 (GRCm39)	Q494*	probably null	Het
Plag1	T	C	4: 3,904,618 (GRCm39)	E191G	possibly damaging	Het
Pou4f2	A	T	8: 79,162,103 (GRCm39)	S167T	probably damaging	Het
Scd4	G	A	19: 44,333,231 (GRCm39)	D319N	probably damaging	Het
Senp2	A	T	16: 21,847,308 (GRCm39)	R279*	probably null	Het
Sh3rf3	G	A	10: 58,649,806 (GRCm39)	G137D	probably benign	Het
Simc1	C	T	13: 54,672,434 (GRCm39)	P261S	probably benign	Het
Slc26a1	T	A	5: 108,821,436 (GRCm39)	D151V	probably damaging	Het
Snx29	A	G	16: 11,556,301 (GRCm39)		probably null	Het
Stard9	C	T	2: 120,530,556 (GRCm39)	A2271V	probably benign	Het
Stat6	A	G	10: 127,491,313 (GRCm39)	N485D	possibly damaging	Het
Tpcn2	T	C	7: 144,822,606 (GRCm39)	T280A	possibly damaging	Het
Ttc29	A	G	8: 79,052,205 (GRCm39)	D362G	probably benign	Het
Ttll7	A	G	3: 146,645,917 (GRCm39)	I592V	probably benign	Het
Ugt3a1	A	T	15: 9,306,172 (GRCm39)	H107L	probably benign	Het
Vmn1r70	A	G	7: 10,367,830 (GRCm39)	Q87R	probably damaging	Het
Wdfy4	G	T	14: 32,868,947 (GRCm39)	S360R	probably damaging	Het
Zfp780b	A	G	7: 27,662,993 (GRCm39)	Y521H	probably damaging	Het

Other mutations in Ttc23

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02852:Ttc23	APN	7	67,316,903 (GRCm39)	unclassified	probably benign
IGL03257:Ttc23	APN	7	67,361,126 (GRCm39)	missense	probably damaging	1.00
IGL03365:Ttc23	APN	7	67,312,085 (GRCm39)	utr 5 prime	probably benign
IGL03404:Ttc23	APN	7	67,328,645 (GRCm39)	missense	probably damaging	0.99
F5770:Ttc23	UTSW	7	67,359,063 (GRCm39)	splice site	probably benign
PIT4445001:Ttc23	UTSW	7	67,316,961 (GRCm39)	missense	probably damaging	1.00
PIT4791001:Ttc23	UTSW	7	67,312,135 (GRCm39)	missense	probably damaging	1.00
R0295:Ttc23	UTSW	7	67,319,600 (GRCm39)	unclassified	probably benign
R0316:Ttc23	UTSW	7	67,328,821 (GRCm39)	critical splice donor site	probably null
R0336:Ttc23	UTSW	7	67,312,231 (GRCm39)	missense	probably benign	0.01
R1456:Ttc23	UTSW	7	67,316,902 (GRCm39)	unclassified	probably benign
R1543:Ttc23	UTSW	7	67,328,743 (GRCm39)	missense	probably benign	0.01
R1662:Ttc23	UTSW	7	67,375,069 (GRCm39)	splice site	probably null
R1708:Ttc23	UTSW	7	67,316,924 (GRCm39)	missense	probably damaging	0.99
R1857:Ttc23	UTSW	7	67,328,821 (GRCm39)	critical splice donor site	probably null
R2292:Ttc23	UTSW	7	67,319,535 (GRCm39)	missense	probably benign	0.08
R4471:Ttc23	UTSW	7	67,319,904 (GRCm39)	missense	probably benign	0.37
R6036:Ttc23	UTSW	7	67,361,114 (GRCm39)	missense	possibly damaging	0.85
R6841:Ttc23	UTSW	7	67,319,476 (GRCm39)	missense	possibly damaging	0.91
R7690:Ttc23	UTSW	7	67,319,918 (GRCm39)	missense	possibly damaging	0.76
R8305:Ttc23	UTSW	7	67,312,135 (GRCm39)	missense	probably damaging	0.99
R8837:Ttc23	UTSW	7	67,319,494 (GRCm39)	missense	probably damaging	1.00
R8902:Ttc23	UTSW	7	67,342,761 (GRCm39)	missense
R9052:Ttc23	UTSW	7	67,342,687 (GRCm39)	nonsense	probably null
R9150:Ttc23	UTSW	7	67,375,850 (GRCm39)	missense	probably damaging	0.99
RF009:Ttc23	UTSW	7	67,375,777 (GRCm39)	missense	possibly damaging	0.61
X0021:Ttc23	UTSW	7	67,319,879 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

Posted On

2017-06-26