Mutagenetix > Incidental Mutation

Incidental Mutation 'R4376:Ttc23l'

325113

Institutional Source

Beutler Lab

Gene Symbol

Ttc23l

Ensembl Gene

ENSMUSG00000022249

Gene Name

tetratricopeptide repeat domain 23-like

Synonyms

4930401A09Rik

MMRRC Submission

041120-MU

Accession Numbers

Essential gene?

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

Stock #

R4376 (G1)

Quality Score

217

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

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 29 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adgrg6	A	G	10: 14,314,238 (GRCm39)	S683P	probably benign	Het
Adgrg6	G	A	10: 14,344,794 (GRCm39)	T53M	probably damaging	Het
Atp10d	T	C	5: 72,454,318 (GRCm39)	L189P	probably damaging	Het
Csf1	T	A	3: 107,664,055 (GRCm39)	T38S	probably damaging	Het
Eaf2	A	G	16: 36,620,998 (GRCm39)	L184P	unknown	Het
Espl1	A	G	15: 102,221,424 (GRCm39)	I944V	probably damaging	Het
Fam83e	A	T	7: 45,373,317 (GRCm39)	S228C	probably damaging	Het
Gon4l	C	A	3: 88,814,694 (GRCm39)	P1888T	probably benign	Het
Kit	T	C	5: 75,801,159 (GRCm39)	I515T	probably benign	Het
Kmt2c	C	T	5: 25,520,324 (GRCm39)	V1929I	probably benign	Het
Marchf11	A	G	15: 26,309,532 (GRCm39)	E62G	probably damaging	Het
Mlh3	C	A	12: 85,305,972 (GRCm39)	R1175L	probably benign	Het
Mrps2	T	C	2: 28,358,871 (GRCm39)	S67P	probably benign	Het
Nlrp12	A	G	7: 3,289,576 (GRCm39)	L312P	possibly damaging	Het
Or13f5	A	T	4: 52,826,195 (GRCm39)	N266I	possibly damaging	Het
Or4c122	T	C	2: 89,079,589 (GRCm39)	R150G	possibly damaging	Het
Osbpl8	T	A	10: 111,105,280 (GRCm39)	I245N	possibly damaging	Het
Pank1	C	T	19: 34,855,104 (GRCm39)	V4I	probably benign	Het
Pdia4	G	A	6: 47,775,326 (GRCm39)	R495W	probably damaging	Het
Pfn4	T	A	12: 4,820,182 (GRCm39)	D10E	probably damaging	Het
Plce1	T	C	19: 38,693,891 (GRCm39)		probably null	Het
Pole	T	A	5: 110,485,071 (GRCm39)	I395K	possibly damaging	Het
Polq	G	T	16: 36,833,543 (GRCm39)	V79F	probably damaging	Het
Prcc	A	G	3: 87,774,714 (GRCm39)	Y363H	probably damaging	Het
Rictor	T	C	15: 6,816,448 (GRCm39)	V1240A	probably benign	Het
Slc14a2	G	A	18: 78,250,283 (GRCm39)	R62C	probably damaging	Het
Steep1	C	A	X: 36,087,812 (GRCm39)	C206F	probably benign	Het
Top2b	T	G	14: 16,409,189 (GRCm38)	I777M	probably damaging	Het
Tsnaxip1	C	A	8: 106,568,433 (GRCm39)	C372*	probably null	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
R2981:Ttc23l	UTSW	15	10,537,648 (GRCm39)	small insertion	probably benign
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	10,537,648 (GRCm39)	small insertion	probably benign
R2983:Ttc23l	UTSW	15	10,537,652 (GRCm39)	missense	probably benign	0.06
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
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'- GGATTAAACGTGGCAGCGTATATAG -3'
(R):5'- CTTGTTTTCCCAAGGGTCGC -3'

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

Posted On

2015-07-06