Mutagenetix > Incidental Mutation

Incidental Mutation 'R5157:Ttc23l'

396798

Institutional Source

Beutler Lab

Gene Symbol

Ttc23l

Ensembl Gene

ENSMUSG00000022249

Gene Name

tetratricopeptide repeat domain 23-like

Synonyms

4930401A09Rik

MMRRC Submission

042739-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.082) question?

Stock #

R5157 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

10500102-10558668 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

G to T at 10551550 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Lysine at position 30 (T30K)

Ref Sequence

ENSEMBL: ENSMUSP00000022857 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000022857] [ENSMUST00000166039] [ENSMUST00000167842] [ENSMUST00000167842]

AlphaFold

A6H6E9

Predicted Effect

possibly damaging
Transcript: ENSMUST00000022857
AA Change: T30K

PolyPhen 2 Score 0.955 (Sensitivity: 0.79; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000022857
Gene: ENSMUSG00000022249
AA Change: T30K

Domain	Start	End	E-Value	Type
TPR	159	192	4.21e1	SMART
Blast:TPR	208	239	2e-6	BLAST
TPR	250	283	1.4e1	SMART
low complexity region	292	303	N/A	INTRINSIC
TPR	376	409	9.53e-2	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000166039

SMART Domains

Protein: ENSMUSP00000131180
Gene: ENSMUSG00000022249

Domain	Start	End	E-Value	Type
Blast:TPR	183	209	9e-11	BLAST

Predicted Effect

possibly damaging
Transcript: ENSMUST00000167842
AA Change: T30K

PolyPhen 2 Score 0.856 (Sensitivity: 0.83; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000127781
Gene: ENSMUSG00000022249
AA Change: T30K

Domain	Start	End	E-Value	Type
low complexity region	18	29	N/A	INTRINSIC
Pfam:TPR_1	102	133	3.3e-6	PFAM
low complexity region	148	160	N/A	INTRINSIC

Predicted Effect

possibly damaging
Transcript: ENSMUST00000167842
AA Change: T30K

PolyPhen 2 Score 0.856 (Sensitivity: 0.83; Specificity: 0.93)

Meta Mutation Damage Score

0.1531

Coding Region Coverage

1x: 99.2%
3x: 98.5%
10x: 96.9%
20x: 94.2%

Validation Efficiency

100% (57/57)

Allele List at MGI

Other mutations in this stock

Total: 46 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
0610009B22Rik	A	T	11: 51,686,066 (GRCm38)	S2T	probably benign	Het
Abca3	C	T	17: 24,408,122 (GRCm38)	R1266C	probably damaging	Het
Adap2	T	C	11: 80,156,946 (GRCm38)	F76S	probably damaging	Het
Adgb	T	A	10: 10,398,966 (GRCm38)	H747L	probably damaging	Het
Aox1	T	A	1: 58,070,063 (GRCm38)	V670D	probably damaging	Het
Ap4e1	A	G	2: 127,061,695 (GRCm38)	D839G	probably benign	Het
Arhgef11	T	A	3: 87,728,510 (GRCm38)		probably null	Het
AY074887	T	C	9: 54,950,818 (GRCm38)		probably benign	Het
Bicd1	C	G	6: 149,520,414 (GRCm38)	Q878E	probably benign	Het
Catspere1	A	T	1: 177,879,782 (GRCm38)		noncoding transcript	Het
Cnmd	T	C	14: 79,656,686 (GRCm38)	Q87R	probably benign	Het
Col24a1	G	T	3: 145,345,951 (GRCm38)	G661*	probably null	Het
Crtap	G	A	9: 114,384,792 (GRCm38)	L232F	probably damaging	Het
Ctsq	T	C	13: 61,037,099 (GRCm38)	T258A	probably benign	Het
Cyp2d26	T	C	15: 82,790,989 (GRCm38)	Q388R	probably benign	Het
Ddb1	A	T	19: 10,622,364 (GRCm38)	T646S	probably benign	Het
Dnah6	G	T	6: 73,195,634 (GRCm38)	S280R	probably benign	Het
Dzank1	T	C	2: 144,483,412 (GRCm38)	H545R	probably damaging	Het
Ehhadh	T	A	16: 21,766,511 (GRCm38)	M207L	probably benign	Het
Elmo2	T	A	2: 165,291,707 (GRCm38)		probably benign	Het
Golga3	G	A	5: 110,202,671 (GRCm38)	A731T	probably benign	Het
Igsf21	T	C	4: 140,028,067 (GRCm38)	T426A	possibly damaging	Het
Kcnf1	T	C	12: 17,174,741 (GRCm38)	E493G	probably benign	Het
Lmna	A	T	3: 88,484,107 (GRCm38)	D364E	probably damaging	Het
Lsr	T	C	7: 30,966,040 (GRCm38)	Y163C	probably damaging	Het
Map3k20	A	T	2: 72,438,214 (GRCm38)	T522S	probably benign	Het
Mpp5	T	A	12: 78,820,815 (GRCm38)	M324K	possibly damaging	Het
Mroh9	C	A	1: 163,044,121 (GRCm38)	A598S	probably damaging	Het
Msln	T	C	17: 25,752,983 (GRCm38)	M87V	probably benign	Het
Olfr1155	T	A	2: 87,942,888 (GRCm38)	M247L	probably benign	Het
Olfr1197	T	A	2: 88,729,548 (GRCm38)	Q17L	probably benign	Het
Olfr292	A	G	7: 86,695,232 (GRCm38)	K259E	probably benign	Het
Olfr385	T	C	11: 73,589,723 (GRCm38)	N5S	probably damaging	Het
Plekhg5	T	A	4: 152,107,865 (GRCm38)		probably benign	Het
Pprc1	G	T	19: 46,064,758 (GRCm38)		probably benign	Het
Ptprm	T	A	17: 66,957,097 (GRCm38)	K385I	probably benign	Het
Rfxap	T	A	3: 54,804,517 (GRCm38)	N215I	probably damaging	Het
Slc16a7	A	T	10: 125,233,464 (GRCm38)	Y114*	probably null	Het
Smarcb1	G	T	10: 75,911,794 (GRCm38)		probably benign	Het
Spef2	T	A	15: 9,668,791 (GRCm38)	R770*	probably null	Het
Stard9	A	T	2: 120,697,861 (GRCm38)	Y1533F	probably benign	Het
Tbcd	A	T	11: 121,610,027 (GRCm38)	Y1142F	probably benign	Het
Uba7	G	A	9: 107,980,047 (GRCm38)	V703I	probably benign	Het
Upb1	T	C	10: 75,412,804 (GRCm38)	S53P	possibly damaging	Het
Zfp672	A	G	11: 58,316,851 (GRCm38)	S215P	possibly damaging	Het
Zfp978	T	A	4: 147,390,980 (GRCm38)	L328H	probably damaging	Het

Other mutations in Ttc23l

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01143:Ttc23l	APN	15	10,530,689 (GRCm38)	missense	probably damaging	1.00
IGL01319:Ttc23l	APN	15	10,509,406 (GRCm38)	splice site	probably benign
IGL01562:Ttc23l	APN	15	10,551,390 (GRCm38)	splice site	probably benign
IGL01969:Ttc23l	APN	15	10,551,434 (GRCm38)	nonsense	probably null
IGL03172:Ttc23l	APN	15	10,537,566 (GRCm38)	missense	probably benign	0.06
R0042:Ttc23l	UTSW	15	10,551,541 (GRCm38)	missense	probably damaging	1.00
R0042:Ttc23l	UTSW	15	10,551,541 (GRCm38)	missense	probably damaging	1.00
R0335:Ttc23l	UTSW	15	10,539,963 (GRCm38)	missense	probably benign	0.26
R0554:Ttc23l	UTSW	15	10,530,657 (GRCm38)	missense	probably benign	0.12
R0609:Ttc23l	UTSW	15	10,504,536 (GRCm38)	missense	probably benign
R0631:Ttc23l	UTSW	15	10,539,980 (GRCm38)	missense	probably damaging	1.00
R1703:Ttc23l	UTSW	15	10,523,658 (GRCm38)	missense	probably damaging	1.00
R2106:Ttc23l	UTSW	15	10,547,256 (GRCm38)	missense	probably damaging	1.00
R2220:Ttc23l	UTSW	15	10,537,566 (GRCm38)	missense	probably benign	0.06
R2276:Ttc23l	UTSW	15	10,523,592 (GRCm38)	missense	possibly damaging	0.92
R2277:Ttc23l	UTSW	15	10,523,592 (GRCm38)	missense	possibly damaging	0.92
R2278:Ttc23l	UTSW	15	10,523,592 (GRCm38)	missense	possibly damaging	0.92
R2279:Ttc23l	UTSW	15	10,523,592 (GRCm38)	missense	possibly damaging	0.92
R2368:Ttc23l	UTSW	15	10,537,566 (GRCm38)	missense	probably benign	0.06
R2368:Ttc23l	UTSW	15	10,537,562 (GRCm38)	small insertion	probably benign
R2420:Ttc23l	UTSW	15	10,537,566 (GRCm38)	missense	probably benign	0.06
R2420:Ttc23l	UTSW	15	10,537,562 (GRCm38)	small insertion	probably benign
R2421:Ttc23l	UTSW	15	10,537,566 (GRCm38)	missense	probably benign	0.06
R2422:Ttc23l	UTSW	15	10,537,566 (GRCm38)	missense	probably benign	0.06
R2422:Ttc23l	UTSW	15	10,537,562 (GRCm38)	small insertion	probably benign
R2830:Ttc23l	UTSW	15	10,537,562 (GRCm38)	small insertion	probably benign
R2831:Ttc23l	UTSW	15	10,537,566 (GRCm38)	missense	probably benign	0.06
R2831:Ttc23l	UTSW	15	10,537,562 (GRCm38)	small insertion	probably benign
R2979:Ttc23l	UTSW	15	10,537,566 (GRCm38)	missense	probably benign	0.06
R2980:Ttc23l	UTSW	15	10,537,566 (GRCm38)	missense	probably benign	0.06
R2980:Ttc23l	UTSW	15	10,537,562 (GRCm38)	small insertion	probably benign
R2981:Ttc23l	UTSW	15	10,537,566 (GRCm38)	missense	probably benign	0.06
R2981:Ttc23l	UTSW	15	10,537,562 (GRCm38)	small insertion	probably benign
R2982:Ttc23l	UTSW	15	10,537,566 (GRCm38)	missense	probably benign	0.06
R2982:Ttc23l	UTSW	15	10,537,562 (GRCm38)	small insertion	probably benign
R2983:Ttc23l	UTSW	15	10,537,562 (GRCm38)	small insertion	probably benign
R2983:Ttc23l	UTSW	15	10,537,566 (GRCm38)	missense	probably benign	0.06
R3176:Ttc23l	UTSW	15	10,547,232 (GRCm38)	missense	possibly damaging	0.83
R3177:Ttc23l	UTSW	15	10,547,232 (GRCm38)	missense	possibly damaging	0.83
R3276:Ttc23l	UTSW	15	10,547,232 (GRCm38)	missense	possibly damaging	0.83
R3277:Ttc23l	UTSW	15	10,547,232 (GRCm38)	missense	possibly damaging	0.83
R3722:Ttc23l	UTSW	15	10,537,562 (GRCm38)	small insertion	probably benign
R3722:Ttc23l	UTSW	15	10,537,566 (GRCm38)	missense	probably benign	0.06
R3743:Ttc23l	UTSW	15	10,537,562 (GRCm38)	small insertion	probably benign
R3743:Ttc23l	UTSW	15	10,537,566 (GRCm38)	missense	probably benign	0.06
R3767:Ttc23l	UTSW	15	10,530,695 (GRCm38)	missense	possibly damaging	0.94
R3921:Ttc23l	UTSW	15	10,537,566 (GRCm38)	missense	probably benign	0.06
R3921:Ttc23l	UTSW	15	10,537,562 (GRCm38)	small insertion	probably benign
R3921:Ttc23l	UTSW	15	10,537,563 (GRCm38)	small insertion	probably benign
R4091:Ttc23l	UTSW	15	10,537,566 (GRCm38)	missense	probably benign	0.06
R4091:Ttc23l	UTSW	15	10,537,562 (GRCm38)	small insertion	probably benign
R4119:Ttc23l	UTSW	15	10,539,920 (GRCm38)	missense	probably damaging	1.00
R4120:Ttc23l	UTSW	15	10,539,920 (GRCm38)	missense	probably damaging	1.00
R4373:Ttc23l	UTSW	15	10,537,566 (GRCm38)	missense	probably benign	0.06
R4373:Ttc23l	UTSW	15	10,537,562 (GRCm38)	small insertion	probably benign
R4375:Ttc23l	UTSW	15	10,537,566 (GRCm38)	missense	probably benign	0.06
R4375:Ttc23l	UTSW	15	10,537,562 (GRCm38)	small insertion	probably benign
R4376:Ttc23l	UTSW	15	10,537,566 (GRCm38)	missense	probably benign	0.06
R4376:Ttc23l	UTSW	15	10,537,562 (GRCm38)	small insertion	probably benign
R4377:Ttc23l	UTSW	15	10,537,562 (GRCm38)	small insertion	probably benign
R4377:Ttc23l	UTSW	15	10,537,566 (GRCm38)	missense	probably benign	0.06
R5002:Ttc23l	UTSW	15	10,551,550 (GRCm38)	missense	possibly damaging	0.95
R5106:Ttc23l	UTSW	15	10,551,550 (GRCm38)	missense	possibly damaging	0.95
R5107:Ttc23l	UTSW	15	10,551,550 (GRCm38)	missense	possibly damaging	0.95
R5109:Ttc23l	UTSW	15	10,551,550 (GRCm38)	missense	possibly damaging	0.95
R5156:Ttc23l	UTSW	15	10,551,550 (GRCm38)	missense	possibly damaging	0.95
R5160:Ttc23l	UTSW	15	10,551,550 (GRCm38)	missense	possibly damaging	0.95
R5161:Ttc23l	UTSW	15	10,551,550 (GRCm38)	missense	possibly damaging	0.95
R5259:Ttc23l	UTSW	15	10,515,150 (GRCm38)	missense	probably damaging	0.99
R5307:Ttc23l	UTSW	15	10,533,659 (GRCm38)	missense	probably damaging	1.00
R5728:Ttc23l	UTSW	15	10,551,550 (GRCm38)	missense	possibly damaging	0.95
R5756:Ttc23l	UTSW	15	10,551,550 (GRCm38)	missense	possibly damaging	0.95
R5772:Ttc23l	UTSW	15	10,551,469 (GRCm38)	missense	probably benign	0.01
R5793:Ttc23l	UTSW	15	10,551,550 (GRCm38)	missense	possibly damaging	0.95
R5794:Ttc23l	UTSW	15	10,551,550 (GRCm38)	missense	possibly damaging	0.95
R5847:Ttc23l	UTSW	15	10,537,596 (GRCm38)	missense	probably benign	0.07
R6976:Ttc23l	UTSW	15	10,537,580 (GRCm38)	nonsense	probably null
R7010:Ttc23l	UTSW	15	10,515,138 (GRCm38)	missense	probably damaging	1.00
R7342:Ttc23l	UTSW	15	10,551,497 (GRCm38)	missense	probably benign	0.01
R7404:Ttc23l	UTSW	15	10,551,577 (GRCm38)	missense	probably damaging	0.98
R7453:Ttc23l	UTSW	15	10,533,767 (GRCm38)	missense	probably damaging	1.00
R7584:Ttc23l	UTSW	15	10,533,708 (GRCm38)	missense	probably damaging	1.00
R7599:Ttc23l	UTSW	15	10,533,680 (GRCm38)	missense	possibly damaging	0.89
R8710:Ttc23l	UTSW	15	10,539,935 (GRCm38)	missense	probably damaging	1.00
R8927:Ttc23l	UTSW	15	10,530,634 (GRCm38)	missense	probably damaging	1.00
R8928:Ttc23l	UTSW	15	10,530,634 (GRCm38)	missense	probably damaging	1.00
R9101:Ttc23l	UTSW	15	10,537,575 (GRCm38)	missense	probably benign	0.16
R9746:Ttc23l	UTSW	15	10,523,643 (GRCm38)	missense	probably benign	0.01
R9782:Ttc23l	UTSW	15	10,530,681 (GRCm38)	missense	probably damaging	1.00
R9792:Ttc23l	UTSW	15	10,537,645 (GRCm38)	missense	probably benign
R9793:Ttc23l	UTSW	15	10,537,645 (GRCm38)	missense	probably benign
R9795:Ttc23l	UTSW	15	10,537,645 (GRCm38)	missense	probably benign
Z1088:Ttc23l	UTSW	15	10,533,667 (GRCm38)	missense	probably damaging	1.00
Z1177:Ttc23l	UTSW	15	10,533,633 (GRCm38)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- TGCATGCTTTCAAATGACAACC -3'
(R):5'- CCACACTGCTGGCTTAGAAG -3'

Sequencing Primer
(F):5'- TGCTTTCAAATGACAACCTGAAC -3'
(R):5'- CTTAGAAGCTAGGTCTTGAGAGTAG -3'

Posted On

2016-06-21