Incidental Mutation 'R9792:Ttc23l'
ID |
734709 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Ttc23l
|
Ensembl Gene |
ENSMUSG00000022249 |
Gene Name |
tetratricopeptide repeat domain 23-like |
Synonyms |
4930401A09Rik |
MMRRC Submission |
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.079)
|
Stock # |
R9792 (G1)
|
Quality Score |
225.009 |
Status
|
Not validated
|
Chromosome |
15 |
Chromosomal Location |
10500188-10558754 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to A
at 10537731 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Isoleucine to Phenylalanine
at position 180
(I180F)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000022857
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000022857]
[ENSMUST00000167842]
[ENSMUST00000167842]
|
AlphaFold |
A6H6E9 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000022857
AA Change: I180F
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
SMART Domains |
Protein: ENSMUSP00000022857 Gene: ENSMUSG00000022249 AA Change: I180F
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 |
probably benign
Transcript: ENSMUST00000167842
AA Change: I180F
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
SMART Domains |
Protein: ENSMUSP00000127781 Gene: ENSMUSG00000022249 AA Change: I180F
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
AA Change: I180F
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.8%
- 10x: 99.3%
- 20x: 98.0%
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 73 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
1700029F12Rik |
T |
C |
13: 97,166,719 (GRCm39) |
D99G |
unknown |
Het |
Add2 |
A |
T |
6: 86,078,135 (GRCm39) |
|
probably null |
Het |
Afap1l1 |
T |
C |
18: 61,874,822 (GRCm39) |
D453G |
possibly damaging |
Het |
Agrn |
A |
G |
4: 156,261,129 (GRCm39) |
V656A |
probably benign |
Het |
Alpk3 |
T |
C |
7: 80,750,881 (GRCm39) |
|
probably null |
Het |
Ano1 |
A |
T |
7: 144,175,434 (GRCm39) |
W495R |
probably damaging |
Het |
Apc |
T |
A |
18: 34,447,628 (GRCm39) |
L1508Q |
probably damaging |
Het |
Bbs12 |
C |
T |
3: 37,374,224 (GRCm39) |
T224I |
possibly damaging |
Het |
Cald1 |
A |
T |
6: 34,723,071 (GRCm39) |
M52L |
|
Het |
Calhm6 |
T |
C |
10: 34,002,544 (GRCm39) |
I180V |
probably damaging |
Het |
Ccdc9b |
T |
C |
2: 118,587,784 (GRCm39) |
S517G |
unknown |
Het |
Cdk11b |
T |
A |
4: 155,732,378 (GRCm39) |
H510Q |
unknown |
Het |
Cdk12 |
T |
A |
11: 98,102,051 (GRCm39) |
D636E |
unknown |
Het |
Cfap53 |
A |
G |
18: 74,438,741 (GRCm39) |
D306G |
probably benign |
Het |
Cnnm1 |
T |
C |
19: 43,482,252 (GRCm39) |
|
probably null |
Het |
Cnrip1 |
G |
A |
11: 17,004,812 (GRCm39) |
A121T |
probably benign |
Het |
Cntnap5c |
A |
T |
17: 58,409,192 (GRCm39) |
T477S |
probably benign |
Het |
Cyp2c54 |
G |
C |
19: 40,034,525 (GRCm39) |
P382A |
probably damaging |
Het |
Cyp4a30b |
A |
G |
4: 115,316,167 (GRCm39) |
T298A |
probably benign |
Het |
Dmkn |
A |
T |
7: 30,464,845 (GRCm39) |
N273Y |
unknown |
Het |
Dsp |
A |
G |
13: 38,379,494 (GRCm39) |
T2080A |
possibly damaging |
Het |
Ermard |
T |
C |
17: 15,281,441 (GRCm39) |
L617P |
probably damaging |
Het |
Grik3 |
A |
G |
4: 125,526,315 (GRCm39) |
T183A |
probably damaging |
Het |
Gstt1 |
T |
C |
10: 75,634,391 (GRCm39) |
|
probably benign |
Het |
Hao1 |
T |
A |
2: 134,372,552 (GRCm39) |
Y152F |
possibly damaging |
Het |
Hdac7 |
T |
C |
15: 97,698,671 (GRCm39) |
T629A |
possibly damaging |
Het |
Hmcn1 |
G |
A |
1: 150,608,689 (GRCm39) |
P1498S |
possibly damaging |
Het |
Iqcf3 |
T |
A |
9: 106,434,714 (GRCm39) |
K41N |
probably benign |
Het |
Lrriq3 |
T |
C |
3: 154,893,313 (GRCm39) |
M338T |
probably benign |
Het |
Ltbp2 |
A |
T |
12: 84,876,128 (GRCm39) |
I493N |
probably damaging |
Het |
Map1a |
T |
C |
2: 121,121,304 (GRCm39) |
|
probably null |
Het |
Mzf1 |
T |
C |
7: 12,786,131 (GRCm39) |
T267A |
probably benign |
Het |
N4bp2l2 |
A |
G |
5: 150,584,897 (GRCm39) |
I19T |
probably benign |
Het |
Ncoa2 |
G |
T |
1: 13,260,355 (GRCm39) |
Q107K |
possibly damaging |
Het |
Nin |
A |
T |
12: 70,094,009 (GRCm39) |
I605N |
|
Het |
Nr1h4 |
T |
G |
10: 89,314,651 (GRCm39) |
T286P |
probably benign |
Het |
Nsd2 |
A |
G |
5: 34,003,489 (GRCm39) |
D213G |
possibly damaging |
Het |
Nuggc |
T |
C |
14: 65,847,345 (GRCm39) |
S131P |
probably damaging |
Het |
Or4a78 |
T |
C |
2: 89,497,811 (GRCm39) |
I140V |
probably benign |
Het |
Or4f14c |
T |
C |
2: 111,941,330 (GRCm39) |
H89R |
probably benign |
Het |
Or52m1 |
G |
A |
7: 102,289,788 (GRCm39) |
V112I |
probably benign |
Het |
Or5b113 |
A |
T |
19: 13,342,514 (GRCm39) |
H174L |
probably damaging |
Het |
Or8h9 |
T |
A |
2: 86,789,119 (GRCm39) |
I228F |
probably damaging |
Het |
Otud7a |
C |
T |
7: 63,378,845 (GRCm39) |
R232W |
probably damaging |
Het |
Pacsin3 |
C |
A |
2: 91,094,160 (GRCm39) |
A363D |
probably benign |
Het |
Pcdh17 |
C |
T |
14: 84,770,350 (GRCm39) |
R943* |
probably null |
Het |
Pcnx2 |
A |
G |
8: 126,534,820 (GRCm39) |
F1270L |
probably damaging |
Het |
Pds5a |
T |
C |
5: 65,795,989 (GRCm39) |
M634V |
probably benign |
Het |
Pkd1 |
A |
G |
17: 24,800,172 (GRCm39) |
T2978A |
probably benign |
Het |
Pkhd1l1 |
T |
C |
15: 44,406,983 (GRCm39) |
S2407P |
probably benign |
Het |
Polr2i |
T |
C |
7: 29,932,190 (GRCm39) |
Y44H |
probably damaging |
Het |
Ppip5k2 |
A |
T |
1: 97,671,822 (GRCm39) |
Y489* |
probably null |
Het |
Ppp3r1 |
C |
A |
11: 17,132,117 (GRCm39) |
A5E |
probably benign |
Het |
Pramel60 |
C |
A |
5: 95,339,810 (GRCm39) |
H110N |
probably damaging |
Het |
Rasgrp1 |
T |
C |
2: 117,118,429 (GRCm39) |
D520G |
probably benign |
Het |
Rex2 |
A |
C |
4: 147,142,039 (GRCm39) |
N176H |
probably damaging |
Het |
Rsl1d1 |
T |
C |
16: 11,017,300 (GRCm39) |
N194S |
possibly damaging |
Het |
Sidt2 |
A |
G |
9: 45,850,563 (GRCm39) |
Y851H |
probably damaging |
Het |
Slc5a8 |
T |
C |
10: 88,757,591 (GRCm39) |
I527T |
possibly damaging |
Het |
Slc6a7 |
C |
A |
18: 61,138,866 (GRCm39) |
R214L |
probably benign |
Het |
Stx7 |
T |
C |
10: 24,057,475 (GRCm39) |
L167P |
probably damaging |
Het |
Tas2r120 |
A |
T |
6: 132,634,528 (GRCm39) |
K203N |
possibly damaging |
Het |
Tbc1d22a |
T |
C |
15: 86,119,839 (GRCm39) |
L81P |
probably damaging |
Het |
Tert |
A |
G |
13: 73,792,442 (GRCm39) |
E903G |
probably benign |
Het |
Tpm4 |
A |
G |
8: 72,905,663 (GRCm39) |
I248V |
probably benign |
Het |
Trim42 |
A |
G |
9: 97,245,429 (GRCm39) |
I457T |
probably damaging |
Het |
Usp9y |
T |
C |
Y: 1,364,679 (GRCm39) |
M1045V |
probably benign |
Het |
Vim |
A |
G |
2: 13,579,598 (GRCm39) |
D119G |
probably benign |
Het |
Vmn1r82 |
A |
T |
7: 12,039,083 (GRCm39) |
M119L |
probably benign |
Het |
Vmn2r118 |
T |
C |
17: 55,899,496 (GRCm39) |
T803A |
probably damaging |
Het |
Vwa3a |
C |
A |
7: 120,383,307 (GRCm39) |
A636D |
probably damaging |
Het |
Zbtb7a |
G |
A |
10: 80,980,378 (GRCm39) |
A191T |
probably benign |
Het |
Zfp819 |
A |
G |
7: 43,261,519 (GRCm39) |
H62R |
possibly 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 |
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 |
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 |
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'- CCCCTTTTATCAGGCCACAA -3'
(R):5'- GGAACCCAAGGCCTTGTTCTT -3'
Sequencing Primer
(F):5'- CTTTTATCAGGCCACAAACCAG -3'
(R):5'- AAGGCCTTGTTCTTTTCCAGG -3'
|
Posted On |
2022-11-14 |