Mutagenetix > Incidental Mutation

Incidental Mutation 'R2981:Ttc23l'

257085

Institutional Source

Beutler Lab

Gene Symbol

Ttc23l

Ensembl Gene

ENSMUSG00000022249

Gene Name

tetratricopeptide repeat domain 23-like

Synonyms

4930401A09Rik

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.079) question?

Stock #

R2981 (G1)

Quality Score

188

Status

Not validated

Chromosome

Chromosomal Location

10500188-10558754 bp(-) (GRCm39)

Type of Mutation

small insertion (2 aa in frame mutation)

DNA Base Change (assembly)

CT to CTTGGATT at 10537648 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000155921 (fasta)

Gene Model

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

AlphaFold

A6H6E9

Predicted Effect

probably benign
Transcript: ENSMUST00000022857

SMART Domains

Protein: ENSMUSP00000022857
Gene: ENSMUSG00000022249

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

probably benign
Transcript: ENSMUST00000167842

SMART Domains

Protein: ENSMUSP00000127781
Gene: ENSMUSG00000022249

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

probably benign
Transcript: ENSMUST00000167842

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 99.1%
3x: 98.5%
10x: 97.2%
20x: 94.8%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 18 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4933434E20Rik	A	G	3: 89,965,938 (GRCm39)	T163A	probably benign	Het
Adgrg7	C	T	16: 56,570,769 (GRCm39)		probably null	Het
Ahnak	C	A	19: 8,977,512 (GRCm39)	Q17K	probably damaging	Het
Cacna2d3	T	C	14: 28,785,875 (GRCm39)	Y604C	probably damaging	Het
Carf	A	T	1: 60,178,391 (GRCm39)	E268V	probably damaging	Het
Dmxl2	C	A	9: 54,300,986 (GRCm39)	R2375L	probably damaging	Het
Fabp3	C	T	4: 130,206,180 (GRCm39)	T57I	probably benign	Het
Fer1l6	A	G	15: 58,435,926 (GRCm39)	K440E	probably damaging	Het
Grin2a	A	T	16: 9,462,087 (GRCm39)	F682I	possibly damaging	Het
Irf3	C	A	7: 44,648,124 (GRCm39)		probably null	Het
Kif1b	C	T	4: 149,304,998 (GRCm39)		probably null	Het
Pcdha5	A	G	18: 37,094,529 (GRCm39)	N346S	probably damaging	Het
Prex2	T	A	1: 11,252,186 (GRCm39)	V1077D	probably damaging	Het
Rptor	T	C	11: 119,756,420 (GRCm39)	L71S	probably damaging	Het
Timeless	A	G	10: 128,084,327 (GRCm39)	T791A	probably benign	Het
Trim58	T	A	11: 58,542,387 (GRCm39)	V449D	probably damaging	Het
Vrk1	A	G	12: 106,018,052 (GRCm39)	Y107C	probably damaging	Het
Yeats2	C	T	16: 20,005,051 (GRCm39)	P400S	probably damaging	Het

Other mutations in Ttc23l

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01143:Ttc23l	APN	15	10,530,775 (GRCm39)	missense	probably damaging	1.00
IGL01319:Ttc23l	APN	15	10,509,492 (GRCm39)	splice site	probably benign
IGL01562:Ttc23l	APN	15	10,551,476 (GRCm39)	splice site	probably benign
IGL01969:Ttc23l	APN	15	10,551,520 (GRCm39)	nonsense	probably null
IGL03172:Ttc23l	APN	15	10,537,652 (GRCm39)	missense	probably benign	0.06
R0042:Ttc23l	UTSW	15	10,551,627 (GRCm39)	missense	probably damaging	1.00
R0042:Ttc23l	UTSW	15	10,551,627 (GRCm39)	missense	probably damaging	1.00
R0335:Ttc23l	UTSW	15	10,540,049 (GRCm39)	missense	probably benign	0.26
R0554:Ttc23l	UTSW	15	10,530,743 (GRCm39)	missense	probably benign	0.12
R0609:Ttc23l	UTSW	15	10,504,622 (GRCm39)	missense	probably benign
R0631:Ttc23l	UTSW	15	10,540,066 (GRCm39)	missense	probably damaging	1.00
R1703:Ttc23l	UTSW	15	10,523,744 (GRCm39)	missense	probably damaging	1.00
R2106:Ttc23l	UTSW	15	10,547,342 (GRCm39)	missense	probably damaging	1.00
R2220:Ttc23l	UTSW	15	10,537,652 (GRCm39)	missense	probably benign	0.06
R2276:Ttc23l	UTSW	15	10,523,678 (GRCm39)	missense	possibly damaging	0.92
R2277:Ttc23l	UTSW	15	10,523,678 (GRCm39)	missense	possibly damaging	0.92
R2278:Ttc23l	UTSW	15	10,523,678 (GRCm39)	missense	possibly damaging	0.92
R2279:Ttc23l	UTSW	15	10,523,678 (GRCm39)	missense	possibly damaging	0.92
R2368:Ttc23l	UTSW	15	10,537,652 (GRCm39)	missense	probably benign	0.06
R2368:Ttc23l	UTSW	15	10,537,648 (GRCm39)	small insertion	probably benign
R2420:Ttc23l	UTSW	15	10,537,652 (GRCm39)	missense	probably benign	0.06
R2420:Ttc23l	UTSW	15	10,537,648 (GRCm39)	small insertion	probably benign
R2421:Ttc23l	UTSW	15	10,537,652 (GRCm39)	missense	probably benign	0.06
R2422:Ttc23l	UTSW	15	10,537,652 (GRCm39)	missense	probably benign	0.06
R2422:Ttc23l	UTSW	15	10,537,648 (GRCm39)	small insertion	probably benign
R2830:Ttc23l	UTSW	15	10,537,648 (GRCm39)	small insertion	probably benign
R2831:Ttc23l	UTSW	15	10,537,652 (GRCm39)	missense	probably benign	0.06
R2831:Ttc23l	UTSW	15	10,537,648 (GRCm39)	small insertion	probably benign
R2979:Ttc23l	UTSW	15	10,537,652 (GRCm39)	missense	probably benign	0.06
R2980:Ttc23l	UTSW	15	10,537,652 (GRCm39)	missense	probably benign	0.06
R2980:Ttc23l	UTSW	15	10,537,648 (GRCm39)	small insertion	probably benign
R2981:Ttc23l	UTSW	15	10,537,652 (GRCm39)	missense	probably benign	0.06
R2982:Ttc23l	UTSW	15	10,537,652 (GRCm39)	missense	probably benign	0.06
R2982:Ttc23l	UTSW	15	10,537,648 (GRCm39)	small insertion	probably benign
R2983:Ttc23l	UTSW	15	10,537,652 (GRCm39)	missense	probably benign	0.06
R2983:Ttc23l	UTSW	15	10,537,648 (GRCm39)	small insertion	probably benign
R3176:Ttc23l	UTSW	15	10,547,318 (GRCm39)	missense	possibly damaging	0.83
R3177:Ttc23l	UTSW	15	10,547,318 (GRCm39)	missense	possibly damaging	0.83
R3276:Ttc23l	UTSW	15	10,547,318 (GRCm39)	missense	possibly damaging	0.83
R3277:Ttc23l	UTSW	15	10,547,318 (GRCm39)	missense	possibly damaging	0.83
R3722:Ttc23l	UTSW	15	10,537,648 (GRCm39)	small insertion	probably benign
R3722:Ttc23l	UTSW	15	10,537,652 (GRCm39)	missense	probably benign	0.06
R3743:Ttc23l	UTSW	15	10,537,648 (GRCm39)	small insertion	probably benign
R3743:Ttc23l	UTSW	15	10,537,652 (GRCm39)	missense	probably benign	0.06
R3767:Ttc23l	UTSW	15	10,530,781 (GRCm39)	missense	possibly damaging	0.94
R3921:Ttc23l	UTSW	15	10,537,652 (GRCm39)	missense	probably benign	0.06
R3921:Ttc23l	UTSW	15	10,537,648 (GRCm39)	small insertion	probably benign
R3921:Ttc23l	UTSW	15	10,537,649 (GRCm39)	small insertion	probably benign
R4091:Ttc23l	UTSW	15	10,537,652 (GRCm39)	missense	probably benign	0.06
R4091:Ttc23l	UTSW	15	10,537,648 (GRCm39)	small insertion	probably benign
R4119:Ttc23l	UTSW	15	10,540,006 (GRCm39)	missense	probably damaging	1.00
R4120:Ttc23l	UTSW	15	10,540,006 (GRCm39)	missense	probably damaging	1.00
R4373:Ttc23l	UTSW	15	10,537,652 (GRCm39)	missense	probably benign	0.06
R4373:Ttc23l	UTSW	15	10,537,648 (GRCm39)	small insertion	probably benign
R4375:Ttc23l	UTSW	15	10,537,652 (GRCm39)	missense	probably benign	0.06
R4375:Ttc23l	UTSW	15	10,537,648 (GRCm39)	small insertion	probably benign
R4376:Ttc23l	UTSW	15	10,537,652 (GRCm39)	missense	probably benign	0.06
R4376:Ttc23l	UTSW	15	10,537,648 (GRCm39)	small insertion	probably benign
R4377:Ttc23l	UTSW	15	10,537,648 (GRCm39)	small insertion	probably benign
R4377:Ttc23l	UTSW	15	10,537,652 (GRCm39)	missense	probably benign	0.06
R5002:Ttc23l	UTSW	15	10,551,636 (GRCm39)	missense	possibly damaging	0.95
R5106:Ttc23l	UTSW	15	10,551,636 (GRCm39)	missense	possibly damaging	0.95
R5107:Ttc23l	UTSW	15	10,551,636 (GRCm39)	missense	possibly damaging	0.95
R5109:Ttc23l	UTSW	15	10,551,636 (GRCm39)	missense	possibly damaging	0.95
R5156:Ttc23l	UTSW	15	10,551,636 (GRCm39)	missense	possibly damaging	0.95
R5157:Ttc23l	UTSW	15	10,551,636 (GRCm39)	missense	possibly damaging	0.95
R5160:Ttc23l	UTSW	15	10,551,636 (GRCm39)	missense	possibly damaging	0.95
R5161:Ttc23l	UTSW	15	10,551,636 (GRCm39)	missense	possibly damaging	0.95
R5259:Ttc23l	UTSW	15	10,515,236 (GRCm39)	missense	probably damaging	0.99
R5307:Ttc23l	UTSW	15	10,533,745 (GRCm39)	missense	probably damaging	1.00
R5728:Ttc23l	UTSW	15	10,551,636 (GRCm39)	missense	possibly damaging	0.95
R5756:Ttc23l	UTSW	15	10,551,636 (GRCm39)	missense	possibly damaging	0.95
R5772:Ttc23l	UTSW	15	10,551,555 (GRCm39)	missense	probably benign	0.01
R5793:Ttc23l	UTSW	15	10,551,636 (GRCm39)	missense	possibly damaging	0.95
R5794:Ttc23l	UTSW	15	10,551,636 (GRCm39)	missense	possibly damaging	0.95
R5847:Ttc23l	UTSW	15	10,537,682 (GRCm39)	missense	probably benign	0.07
R6976:Ttc23l	UTSW	15	10,537,666 (GRCm39)	nonsense	probably null
R7010:Ttc23l	UTSW	15	10,515,224 (GRCm39)	missense	probably damaging	1.00
R7342:Ttc23l	UTSW	15	10,551,583 (GRCm39)	missense	probably benign	0.01
R7404:Ttc23l	UTSW	15	10,551,663 (GRCm39)	missense	probably damaging	0.98
R7453:Ttc23l	UTSW	15	10,533,853 (GRCm39)	missense	probably damaging	1.00
R7584:Ttc23l	UTSW	15	10,533,794 (GRCm39)	missense	probably damaging	1.00
R7599:Ttc23l	UTSW	15	10,533,766 (GRCm39)	missense	possibly damaging	0.89
R8710:Ttc23l	UTSW	15	10,540,021 (GRCm39)	missense	probably damaging	1.00
R8927:Ttc23l	UTSW	15	10,530,720 (GRCm39)	missense	probably damaging	1.00
R8928:Ttc23l	UTSW	15	10,530,720 (GRCm39)	missense	probably damaging	1.00
R9101:Ttc23l	UTSW	15	10,537,661 (GRCm39)	missense	probably benign	0.16
R9746:Ttc23l	UTSW	15	10,523,729 (GRCm39)	missense	probably benign	0.01
R9782:Ttc23l	UTSW	15	10,530,767 (GRCm39)	missense	probably damaging	1.00
R9792:Ttc23l	UTSW	15	10,537,731 (GRCm39)	missense	probably benign
R9793:Ttc23l	UTSW	15	10,537,731 (GRCm39)	missense	probably benign
R9795:Ttc23l	UTSW	15	10,537,731 (GRCm39)	missense	probably benign
Z1088:Ttc23l	UTSW	15	10,533,753 (GRCm39)	missense	probably damaging	1.00
Z1177:Ttc23l	UTSW	15	10,533,719 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- ACGTGGCAGCGTATATAGTAAGC -3'
(R):5'- CGTTTGCAAACACCACCTTG -3'

Sequencing Primer
(F):5'- CAGCGTATATAGTAAGCTTGCAG -3'
(R):5'- CCCAAGGGTCGCTTTTGTTAGC -3'

Posted On

2015-01-11