Mutagenetix > Incidental Mutation

Incidental Mutation 'R9150:Ttc23'

694964

Institutional Source

Beutler Lab

Gene Symbol

Ttc23

Ensembl Gene

ENSMUSG00000030555

Gene Name

tetratricopeptide repeat domain 23

Synonyms

1600012K10Rik

MMRRC Submission

068938-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.052) question?

Stock #

R9150 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

67295180-67378370 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 67375850 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Cysteine at position 476 (Y476C)

Ref Sequence

ENSEMBL: ENSMUSP00000032774 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000032774] [ENSMUST00000051389] [ENSMUST00000074233] [ENSMUST00000107470] [ENSMUST00000107471] [ENSMUST00000208231]

AlphaFold

Q8CHY7

Predicted Effect

probably damaging
Transcript: ENSMUST00000032774
AA Change: Y476C

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

SMART Domains

Protein: ENSMUSP00000032774
Gene: ENSMUSG00000030555
AA Change: Y476C

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

probably benign
Transcript: ENSMUST00000051389

SMART Domains

Protein: ENSMUSP00000050987
Gene: ENSMUSG00000030554

Domain	Start	End	E-Value	Type
Pfam:Filament	10	321	2.7e-38	PFAM
low complexity region	1248	1257	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000074233

SMART Domains

Protein: ENSMUSP00000073855
Gene: ENSMUSG00000030554

Domain	Start	End	E-Value	Type
Filament	10	321	6.4e-38	SMART
internal_repeat_1	1089	1185	3.03e-7	PROSPERO
internal_repeat_1	1351	1454	3.03e-7	PROSPERO
low complexity region	1550	1559	N/A	INTRINSIC

Predicted Effect

probably damaging
Transcript: ENSMUST00000107470
AA Change: Y434C

PolyPhen 2 Score 0.960 (Sensitivity: 0.78; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000103094
Gene: ENSMUSG00000030555
AA Change: Y434C

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

probably damaging
Transcript: ENSMUST00000107471
AA Change: Y434C

PolyPhen 2 Score 0.960 (Sensitivity: 0.78; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000103095
Gene: ENSMUSG00000030555
AA Change: Y434C

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

probably benign
Transcript: ENSMUST00000208231

Predicted Effect

probably benign
Transcript: ENSMUST00000208764

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.8%
20x: 99.2%

Validation Efficiency

98% (56/57)

Allele List at MGI

Other mutations in this stock

Total: 57 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Actl6b	CTCCGGTGAGTGCCTCATCC	CTCC	5: 137,553,354 (GRCm39)		probably null	Het
Ampd1	A	T	3: 102,988,359 (GRCm39)	I101F	possibly damaging	Het
Arhgap11a	A	G	2: 113,673,614 (GRCm39)	V92A	possibly damaging	Het
Arih1	C	A	9: 59,344,069 (GRCm39)	L189F	possibly damaging	Het
B4galt3	A	G	1: 171,103,899 (GRCm39)	R379G	probably benign	Het
Capn12	A	G	7: 28,590,378 (GRCm39)	N642D	probably benign	Het
Cdc42ep3	T	C	17: 79,642,299 (GRCm39)	H207R	probably benign	Het
Dcps	A	T	9: 35,035,938 (GRCm39)	L316H	probably damaging	Het
Dmgdh	A	G	13: 93,825,103 (GRCm39)	Y142C	probably damaging	Het
Elmo2	A	G	2: 165,140,607 (GRCm39)	V300A	probably damaging	Het
Eml6	A	T	11: 29,755,791 (GRCm39)	V821E	probably benign	Het
Fam181a	A	T	12: 103,282,139 (GRCm39)	N15Y	probably damaging	Het
Gm26657	G	T	4: 56,740,835 (GRCm39)	E7*	probably null	Het
Gm8267	A	T	14: 44,955,362 (GRCm39)	S220T	probably benign	Het
Gpld1	A	T	13: 25,146,305 (GRCm39)	Y183F	probably damaging	Het
Gpr158	G	A	2: 21,831,251 (GRCm39)	G784R	probably benign	Het
Grm2	A	G	9: 106,524,657 (GRCm39)	L215P		Het
Gtpbp1	A	G	15: 79,592,165 (GRCm39)	D252G	probably damaging	Het
Heatr5b	A	G	17: 79,103,448 (GRCm39)	V1135A	probably benign	Het
Irag1	T	C	7: 110,498,205 (GRCm39)	T397A	probably benign	Het
Lrrc8e	A	C	8: 4,286,030 (GRCm39)	K752Q	probably benign	Het
Ltbp2	G	A	12: 84,837,864 (GRCm39)	P1192L	probably benign	Het
Mapre2	A	G	18: 23,991,208 (GRCm39)	T201A	probably benign	Het
Mcm9	A	T	10: 53,502,110 (GRCm39)	N85K		Het
Mdga1	T	C	17: 30,057,420 (GRCm39)	T92A	probably damaging	Het
Nemf	A	C	12: 69,387,820 (GRCm39)	D421E	probably benign	Het
Oga	A	T	19: 45,771,421 (GRCm39)	V50E	probably benign	Het
Or13g1	G	C	7: 85,955,942 (GRCm39)	F126L	probably damaging	Het
Or5k14	G	T	16: 58,693,005 (GRCm39)	C169*	probably null	Het
Or5m3	A	T	2: 85,838,626 (GRCm39)	K169*	probably null	Het
Or8k53	A	T	2: 86,177,336 (GRCm39)	M258K	probably damaging	Het
Pcdhga5	A	C	18: 37,827,933 (GRCm39)	N127T	probably damaging	Het
Phyhipl	A	T	10: 70,404,887 (GRCm39)	V107E	probably damaging	Het
Pkd1l1	G	A	11: 8,786,256 (GRCm39)	R2383C		Het
Ppp1r16a	G	A	15: 76,575,054 (GRCm39)		probably benign	Het
Pramel20	A	G	4: 143,298,531 (GRCm39)	Y158C	probably benign	Het
Rnf41	T	C	10: 128,272,399 (GRCm39)	V142A		Het
Sgcd	C	T	11: 46,870,170 (GRCm39)	V264I	probably damaging	Het
Six2	A	G	17: 85,992,763 (GRCm39)	S247P	probably benign	Het
Slc17a7	T	G	7: 44,820,167 (GRCm39)	Y241D	probably damaging	Het
Slc30a5	T	A	13: 100,939,915 (GRCm39)	K724*	probably null	Het
Slitrk1	T	A	14: 109,149,101 (GRCm39)	I537F	possibly damaging	Het
Sp140l2	T	A	1: 85,091,359 (GRCm39)	Q33L	probably damaging	Het
Spen	C	T	4: 141,244,468 (GRCm39)	R189Q	unknown	Het
Srd5a3	T	A	5: 76,297,615 (GRCm39)	L139Q	probably damaging	Het
Tgfbrap1	A	T	1: 43,114,985 (GRCm39)	Y38*	probably null	Het
Tln2	A	T	9: 67,128,778 (GRCm39)	M1437K	probably damaging	Het
Tmem87b	T	C	2: 128,687,401 (GRCm39)	I467T	probably damaging	Het
Tnfrsf21	T	A	17: 43,398,691 (GRCm39)	I599N	probably damaging	Het
Trmt112	T	A	19: 6,887,620 (GRCm39)	L23Q	probably damaging	Het
Tsc22d1	T	A	14: 76,654,056 (GRCm39)	N178K	probably damaging	Het
Twf1	A	T	15: 94,484,274 (GRCm39)	W83R	probably damaging	Het
Vmn2r14	T	A	5: 109,367,783 (GRCm39)	H403L	probably damaging	Het
Wiz	A	T	17: 32,586,809 (GRCm39)	I167N	probably benign	Het
Zdhhc22	G	A	12: 87,035,192 (GRCm39)	P87S	probably benign	Het
Zfp618	C	T	4: 63,039,603 (GRCm39)	Q401*	probably null	Het
Zfp715	T	A	7: 42,948,713 (GRCm39)	I416F	possibly 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
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
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

PCR Primer
(F):5'- ATTTGCCTCAGCTCGGTGAG -3'
(R):5'- TTGCATTCTGAAGTAAACAGCC -3'

Sequencing Primer
(F):5'- AGGAGAAGCACGCCTTGTG -3'
(R):5'- GCCTTAAAAACCTGCAGTGGCTG -3'

Posted On

2022-01-20