Incidental Mutation 'R8710:Ttc23l'
ID |
669526 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Ttc23l
|
Ensembl Gene |
ENSMUSG00000022249 |
Gene Name |
tetratricopeptide repeat domain 23-like |
Synonyms |
4930401A09Rik |
MMRRC Submission |
068564-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.079)
|
Stock # |
R8710 (G1)
|
Quality Score |
225.009 |
Status
|
Validated
|
Chromosome |
15 |
Chromosomal Location |
10500188-10558754 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 10540021 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Isoleucine to Threonine
at position 154
(I154T)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000022857
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000022857]
[ENSMUST00000167842]
[ENSMUST00000167842]
|
AlphaFold |
A6H6E9 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000022857
AA Change: I154T
PolyPhen 2
Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
|
SMART Domains |
Protein: ENSMUSP00000022857 Gene: ENSMUSG00000022249 AA Change: I154T
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 damaging
Transcript: ENSMUST00000167842
AA Change: I154T
PolyPhen 2
Score 0.988 (Sensitivity: 0.73; Specificity: 0.96)
|
SMART Domains |
Protein: ENSMUSP00000127781 Gene: ENSMUSG00000022249 AA Change: I154T
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 damaging
Transcript: ENSMUST00000167842
AA Change: I154T
PolyPhen 2
Score 0.988 (Sensitivity: 0.73; Specificity: 0.96)
|
Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.8%
- 20x: 99.4%
|
Validation Efficiency |
99% (68/69) |
Allele List at MGI |
|
Other mutations in this stock |
Total: 70 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abcb4 |
A |
G |
5: 9,005,495 (GRCm39) |
N1126S |
probably damaging |
Het |
Ablim2 |
C |
T |
5: 36,030,518 (GRCm39) |
A581V |
possibly damaging |
Het |
Agpat5 |
T |
A |
8: 18,928,105 (GRCm39) |
D223E |
possibly damaging |
Het |
Anks3 |
A |
C |
16: 4,775,976 (GRCm39) |
Y75* |
probably null |
Het |
Ano5 |
T |
G |
7: 51,243,419 (GRCm39) |
D847E |
probably damaging |
Het |
Asb6 |
G |
T |
2: 30,717,072 (GRCm39) |
T51K |
probably benign |
Het |
Bahcc1 |
A |
G |
11: 120,174,953 (GRCm39) |
E1702G |
probably damaging |
Het |
Bend7 |
A |
G |
2: 4,767,925 (GRCm39) |
M294V |
probably benign |
Het |
Cadm1 |
T |
A |
9: 47,759,466 (GRCm39) |
D392E |
probably damaging |
Het |
Camkmt |
T |
C |
17: 85,421,277 (GRCm39) |
|
probably benign |
Het |
Cd300a |
A |
G |
11: 114,785,501 (GRCm39) |
T149A |
probably benign |
Het |
Cd69 |
A |
T |
6: 129,246,573 (GRCm39) |
W153R |
possibly damaging |
Het |
Cdc25c |
T |
A |
18: 34,882,666 (GRCm39) |
|
probably benign |
Het |
Clnk |
A |
C |
5: 38,931,940 (GRCm39) |
C40W |
possibly damaging |
Het |
Cthrc1 |
T |
A |
15: 38,947,821 (GRCm39) |
L180Q |
probably damaging |
Het |
Cyld |
A |
G |
8: 89,436,523 (GRCm39) |
N271S |
probably damaging |
Het |
Dnah14 |
T |
C |
1: 181,517,876 (GRCm39) |
I2070T |
probably benign |
Het |
Dnah17 |
A |
C |
11: 117,932,973 (GRCm39) |
L3595R |
probably damaging |
Het |
Edrf1 |
A |
G |
7: 133,245,495 (GRCm39) |
Y211C |
probably damaging |
Het |
Efcab6 |
A |
G |
15: 83,902,849 (GRCm39) |
I167T |
probably benign |
Het |
Elavl3 |
A |
T |
9: 21,937,849 (GRCm39) |
Y148N |
probably damaging |
Het |
Ermardl2 |
A |
T |
17: 15,209,194 (GRCm39) |
N342I |
probably damaging |
Het |
Fam83c |
A |
G |
2: 155,671,642 (GRCm39) |
S598P |
probably benign |
Het |
Gm38119 |
ACTGCCACCACTGCTGCCACAGCAGCCACTGCTGCCACCACTGCTGCCACAGCAGCCACTGCTGCCACCACTACTGCCACAGCAGCCACTGCTGCCACCACTGCTGCCACA |
ACTGCCACCACTGCTGCCACAGCAGCCACTGCTGCCACCACTACTGCCACAGCAGCCACTGCTGCCACCACTGCTGCCACA |
3: 92,645,197 (GRCm39) |
|
probably benign |
Het |
Helb |
A |
G |
10: 119,941,872 (GRCm39) |
L272P |
probably damaging |
Het |
Iars2 |
A |
C |
1: 185,027,783 (GRCm39) |
V715G |
probably benign |
Het |
Iqgap2 |
T |
G |
13: 95,796,756 (GRCm39) |
N1133H |
probably benign |
Het |
Kifc5b |
T |
A |
17: 27,139,880 (GRCm39) |
M43K |
probably damaging |
Het |
Krtap7-1 |
T |
A |
16: 89,305,008 (GRCm39) |
Y48F |
possibly damaging |
Het |
Lag3 |
G |
A |
6: 124,885,408 (GRCm39) |
T324I |
probably damaging |
Het |
Mapkapk2 |
C |
A |
1: 130,986,448 (GRCm39) |
A97S |
possibly damaging |
Het |
Mettl4 |
A |
G |
17: 95,041,072 (GRCm39) |
S361P |
probably damaging |
Het |
Myh4 |
A |
G |
11: 67,143,158 (GRCm39) |
T1029A |
probably benign |
Het |
Nsl1 |
C |
A |
1: 190,795,420 (GRCm39) |
A62D |
probably benign |
Het |
Oas1e |
T |
A |
5: 120,930,027 (GRCm39) |
K164* |
probably null |
Het |
Obsl1 |
A |
G |
1: 75,469,326 (GRCm39) |
F1205S |
probably benign |
Het |
Or14j2 |
G |
T |
17: 37,885,540 (GRCm39) |
A258E |
probably benign |
Het |
Or1e1b-ps1 |
G |
A |
11: 73,845,694 (GRCm39) |
M59I |
possibly damaging |
Het |
Or8c15 |
C |
T |
9: 38,121,066 (GRCm39) |
A237V |
possibly damaging |
Het |
Or8g18 |
T |
A |
9: 39,149,306 (GRCm39) |
Y138F |
probably benign |
Het |
Pald1 |
A |
G |
10: 61,183,232 (GRCm39) |
F334S |
probably benign |
Het |
Pikfyve |
A |
G |
1: 65,255,155 (GRCm39) |
E325G |
possibly damaging |
Het |
Plekha8 |
A |
G |
6: 54,599,245 (GRCm39) |
T215A |
probably benign |
Het |
Ptprq |
T |
C |
10: 107,411,919 (GRCm39) |
R1816G |
possibly damaging |
Het |
Ralgps1 |
G |
A |
2: 33,035,433 (GRCm39) |
L472F |
probably damaging |
Het |
Rasal1 |
A |
T |
5: 120,801,002 (GRCm39) |
T221S |
probably benign |
Het |
Rfx6 |
A |
G |
10: 51,601,501 (GRCm39) |
T607A |
probably damaging |
Het |
Rnf214 |
T |
A |
9: 45,778,748 (GRCm39) |
|
probably benign |
Het |
Rtca |
A |
T |
3: 116,291,303 (GRCm39) |
Y226N |
probably benign |
Het |
Sash1 |
T |
A |
10: 8,656,285 (GRCm39) |
N236Y |
possibly damaging |
Het |
Skint11 |
A |
G |
4: 114,051,951 (GRCm39) |
I100V |
probably benign |
Het |
Skint5 |
A |
T |
4: 113,483,787 (GRCm39) |
S948R |
unknown |
Het |
Slc25a13 |
A |
T |
6: 6,114,238 (GRCm39) |
Y279N |
probably benign |
Het |
Slc5a2 |
T |
C |
7: 127,864,966 (GRCm39) |
L33P |
probably damaging |
Het |
Slco1a5 |
A |
T |
6: 142,198,828 (GRCm39) |
V279E |
probably benign |
Het |
Ssh3 |
G |
T |
19: 4,313,833 (GRCm39) |
H475Q |
probably benign |
Het |
Tapt1 |
A |
G |
5: 44,351,743 (GRCm39) |
S107P |
probably benign |
Het |
Tjp2 |
T |
C |
19: 24,072,796 (GRCm39) |
E1166G |
probably damaging |
Het |
Tll1 |
A |
G |
8: 64,577,940 (GRCm39) |
L89P |
possibly damaging |
Het |
Tmc4 |
G |
T |
7: 3,678,463 (GRCm39) |
T123N |
probably benign |
Het |
Tmem139 |
A |
G |
6: 42,241,021 (GRCm39) |
D202G |
probably damaging |
Het |
Trim35 |
T |
C |
14: 66,545,367 (GRCm39) |
S313P |
probably damaging |
Het |
Ttc9c |
T |
C |
19: 8,795,860 (GRCm39) |
T60A |
probably benign |
Het |
Wdfy3 |
G |
T |
5: 102,030,349 (GRCm39) |
N2386K |
probably damaging |
Het |
Wdpcp |
C |
A |
11: 21,610,924 (GRCm39) |
Q49K |
probably benign |
Het |
Xrn1 |
A |
T |
9: 95,884,285 (GRCm39) |
Y867F |
|
Het |
Zfp423 |
C |
T |
8: 88,507,549 (GRCm39) |
E932K |
possibly damaging |
Het |
Zfp592 |
T |
C |
7: 80,673,321 (GRCm39) |
F95S |
probably damaging |
Het |
Zfp644 |
T |
G |
5: 106,782,997 (GRCm39) |
N1095H |
probably damaging |
Het |
Zfp983 |
A |
T |
17: 21,880,234 (GRCm39) |
N54I |
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 |
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 |
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'- GGAGGGCCTAGATACTTGGAAC -3'
(R):5'- TGTGGCTCACAATAGGAACAG -3'
Sequencing Primer
(F):5'- GGCCTAGATACTTGGAACACAGC -3'
(R):5'- GCTCACAATAGGAACAGGACCTG -3'
|
Posted On |
2021-04-30 |