Mutagenetix > Incidental Mutation

Incidental Mutation 'R8305:Ttc23'

641002

Institutional Source

Beutler Lab

Gene Symbol

Ttc23

Ensembl Gene

ENSMUSG00000030555

Gene Name

tetratricopeptide repeat domain 23

Synonyms

MMRRC Submission

Accession Numbers

Is this an essential gene?

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

Stock #

R8305 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

67647410-67762912 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to C at 67662387 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Alanine at position 14 (D14A)

Ref Sequence

ENSEMBL: ENSMUSP00000032774 (fasta)

Gene Model

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

AlphaFold

Q8CHY7

Predicted Effect

probably damaging
Transcript: ENSMUST00000032774
AA Change: D14A

PolyPhen 2 Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000032774
Gene: ENSMUSG00000030555
AA Change: D14A

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 damaging
Transcript: ENSMUST00000107470
AA Change: D14A

PolyPhen 2 Score 0.985 (Sensitivity: 0.74; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000103094
Gene: ENSMUSG00000030555
AA Change: D14A

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: D14A

PolyPhen 2 Score 0.985 (Sensitivity: 0.74; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000103095
Gene: ENSMUSG00000030555
AA Change: D14A

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

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.6%
20x: 98.9%

Validation Efficiency

98% (65/66)

Allele List at MGI

Other mutations in this stock

Total: 67 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930578I06Rik	C	T	14: 63,971,395	E243K	possibly damaging	Het
Accsl	A	T	2: 93,866,078	H58Q	probably benign	Het
Actl7a	T	A	4: 56,743,744	F90L	probably benign	Het
Adam5	G	A	8: 24,810,703	A270V	possibly damaging	Het
Angptl3	A	G	4: 99,031,311	T103A	probably damaging	Het
Ankhd1	T	C	18: 36,647,166	L1757P	possibly damaging	Het
Apoa4	T	A	9: 46,241,155	M1K	probably null	Het
Arih1	T	A	9: 59,396,487	Q445L	probably benign	Het
Asb14	A	T	14: 26,912,097	I420L	probably benign	Het
Bbs2	A	C	8: 94,074,325	V626G	probably damaging	Het
BC089597	T	A	10: 127,876,995	D287E	probably damaging	Het
Cep290	C	A	10: 100,544,934	A1678D	probably benign	Het
Cilp	G	A	9: 65,279,004	G794S	probably damaging	Het
Clca3a1	C	T	3: 144,759,166		probably benign	Het
Clca3b	T	A	3: 144,825,937	N702I	probably damaging	Het
Col24a1	T	C	3: 145,474,182	V1143A	probably benign	Het
Cux1	T	C	5: 136,360,009	T223A	probably benign	Het
Defa30	A	T	8: 21,135,459	T80S	probably benign	Het
Dennd1a	G	A	2: 37,858,081	L375F	probably damaging	Het
Dnajc6	C	T	4: 101,623,787	T675I	probably damaging	Het
Emc9	A	G	14: 55,585,099	V4A	probably damaging	Het
Enpp3	C	G	10: 24,824,929		probably null	Het
Fam117b	A	G	1: 59,913,623	T154A	probably benign	Het
Filip1	G	T	9: 79,820,475	Y287*	probably null	Het
Flt3	T	C	5: 147,348,054	D751G	probably damaging	Het
Frem1	T	A	4: 82,999,989	Q572L	probably benign	Het
Gja10	G	A	4: 32,602,441		probably benign	Het
Gm7356	T	A	17: 14,001,437	Y110F	probably benign	Het
Igf2r	T	C	17: 12,733,860	K233R	probably benign	Het
Igkv9-129	A	T	6: 67,840,222	E103D	probably benign	Het
Igsf11	C	A	16: 39,007,224	T48N	probably damaging	Het
Itpkc	A	T	7: 27,214,519	Y506N	probably damaging	Het
Kat2a	A	C	11: 100,709,478	M357R	possibly damaging	Het
Kbtbd12	T	C	6: 88,618,150	R233G	possibly damaging	Het
Kcnd2	T	A	6: 21,726,198	C563*	probably null	Het
Kcnu1	T	C	8: 25,891,990	V456A	probably benign	Het
Kif24	A	G	4: 41,428,825	V45A	probably damaging	Het
Macf1	A	T	4: 123,395,621		probably benign	Het
Map3k19	T	A	1: 127,817,270	E1177D		Het
Mdn1	G	T	4: 32,725,107	L2575F	probably benign	Het
Mga	T	A	2: 119,946,319	M1569K	possibly damaging	Het
Mvk	T	C	5: 114,450,779	Y161H	probably damaging	Het
Olfr119	T	A	17: 37,701,498	M276K	probably benign	Het
Olfr134	C	A	17: 38,175,573	T163K	probably damaging	Het
Olfr301	G	T	7: 86,412,779	C139F	probably damaging	Het
Pcdhb14	T	A	18: 37,450,022	V727E	possibly damaging	Het
Pcsk7	T	G	9: 45,910,409	V167G	probably damaging	Het
Plin5	T	C	17: 56,115,221	D146G	probably benign	Het
Plxna4	C	T	6: 32,211,065	G879R	possibly damaging	Het
Prss58	C	T	6: 40,895,660	A171T	probably benign	Het
Pum1	A	G	4: 130,771,920	I1016V	probably benign	Het
Rbm43	A	G	2: 51,926,700	V85A	probably damaging	Het
RP23-56A14.9	A	G	7: 142,135,623	C138R	unknown	Het
Rptor	T	A	11: 119,811,986	L393Q	probably damaging	Het
Sbf2	T	G	7: 110,371,618	H857P	possibly damaging	Het
Scn8a	A	C	15: 101,040,506	T1919P	probably benign	Het
Sema6b	C	T	17: 56,127,084	G377E	probably damaging	Het
Senp7	T	A	16: 56,155,240	D436E	probably damaging	Het
Slc6a17	T	A	3: 107,473,585	I535F	probably benign	Het
Sptbn2	T	A	19: 4,729,130	S281T	possibly damaging	Het
Stt3b	T	C	9: 115,254,931	I392M	probably damaging	Het
Tfap2b	T	C	1: 19,226,436	V201A	possibly damaging	Het
Timm10b	T	C	7: 105,640,669		probably benign	Het
Usp32	A	T	11: 85,032,185	L636I	possibly damaging	Het
Vgll4	G	T	6: 114,890,652	H79Q	probably damaging	Het
Vps13d	A	G	4: 145,092,288	I3047T		Het
Zan	T	C	5: 137,450,551	E1680G	unknown	Het

Other mutations in Ttc23

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02852:Ttc23	APN	7	67667155	unclassified	probably benign
IGL03257:Ttc23	APN	7	67711378	missense	probably damaging	1.00
IGL03365:Ttc23	APN	7	67662337	utr 5 prime	probably benign
IGL03404:Ttc23	APN	7	67678897	missense	probably damaging	0.99
F5770:Ttc23	UTSW	7	67709315	splice site	probably benign
PIT4445001:Ttc23	UTSW	7	67667213	missense	probably damaging	1.00
PIT4791001:Ttc23	UTSW	7	67662387	missense	probably damaging	1.00
R0295:Ttc23	UTSW	7	67669852	unclassified	probably benign
R0316:Ttc23	UTSW	7	67679073	critical splice donor site	probably null
R0336:Ttc23	UTSW	7	67662483	missense	probably benign	0.01
R1456:Ttc23	UTSW	7	67667154	unclassified	probably benign
R1543:Ttc23	UTSW	7	67678995	missense	probably benign	0.01
R1662:Ttc23	UTSW	7	67725321	splice site	probably null
R1708:Ttc23	UTSW	7	67667176	missense	probably damaging	0.99
R1857:Ttc23	UTSW	7	67679073	critical splice donor site	probably null
R2292:Ttc23	UTSW	7	67669787	missense	probably benign	0.08
R4471:Ttc23	UTSW	7	67670156	missense	probably benign	0.37
R6036:Ttc23	UTSW	7	67711366	missense	possibly damaging	0.85
R6036:Ttc23	UTSW	7	67711366	missense	possibly damaging	0.85
R6841:Ttc23	UTSW	7	67669728	missense	possibly damaging	0.91
R7690:Ttc23	UTSW	7	67670170	missense	possibly damaging	0.76
R8837:Ttc23	UTSW	7	67669746	missense	probably damaging	1.00
R8902:Ttc23	UTSW	7	67693013	missense
R9052:Ttc23	UTSW	7	67692939	nonsense	probably null
R9150:Ttc23	UTSW	7	67726102	missense	probably damaging	0.99
RF009:Ttc23	UTSW	7	67726029	missense	possibly damaging	0.61
X0021:Ttc23	UTSW	7	67670131	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- GCGAATGCCCCTTTGAAATAAAATG -3'
(R):5'- ATGGCTGCTATGTGACCCAG -3'

Sequencing Primer
(F):5'- CCTAGACGTTAACCTAGACT -3'
(R):5'- ATGGCTGCCATGTGACC -3'

Posted On

2020-07-28