Incidental Mutation 'R2422:Ttc23l'
ID |
249398 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Ttc23l
|
Ensembl Gene |
ENSMUSG00000022249 |
Gene Name |
tetratricopeptide repeat domain 23-like |
Synonyms |
4930401A09Rik |
MMRRC Submission |
040384-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.079)
|
Stock # |
R2422 (G1)
|
Quality Score |
107 |
Status
|
Validated
|
Chromosome |
15 |
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: 97.1%
- 20x: 94.5%
|
Validation Efficiency |
99% (77/78) |
Allele List at MGI |
|
Other mutations in this stock |
Total: 76 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
4933409G03Rik |
A |
T |
2: 68,421,864 (GRCm39) |
N47I |
probably benign |
Het |
Actr5 |
T |
C |
2: 158,478,001 (GRCm39) |
F457S |
probably damaging |
Het |
Adamts3 |
A |
G |
5: 89,831,034 (GRCm39) |
S1007P |
probably damaging |
Het |
Adck2 |
C |
T |
6: 39,560,932 (GRCm39) |
A440V |
possibly damaging |
Het |
Birc6 |
T |
A |
17: 74,967,609 (GRCm39) |
L301Q |
probably damaging |
Het |
Ccdc121rt3 |
A |
T |
5: 112,502,984 (GRCm39) |
V240D |
probably damaging |
Het |
Ccdc18 |
A |
C |
5: 108,376,454 (GRCm39) |
E1298D |
probably damaging |
Het |
Ccdc77 |
A |
G |
6: 120,316,120 (GRCm39) |
C186R |
probably benign |
Het |
Cdk12 |
T |
G |
11: 98,109,900 (GRCm39) |
S640R |
probably benign |
Het |
Cdv3 |
T |
C |
9: 103,242,317 (GRCm39) |
|
probably benign |
Het |
Celf2 |
G |
A |
2: 6,558,700 (GRCm39) |
T364I |
probably damaging |
Het |
Cmtr2 |
C |
A |
8: 110,949,413 (GRCm39) |
S574R |
probably benign |
Het |
Col14a1 |
T |
C |
15: 55,313,318 (GRCm39) |
L56P |
unknown |
Het |
Cracdl |
C |
A |
1: 37,652,556 (GRCm39) |
V1084L |
probably benign |
Het |
Dctn1 |
C |
T |
6: 83,176,782 (GRCm39) |
L1241F |
possibly damaging |
Het |
Depdc5 |
T |
C |
5: 33,148,379 (GRCm39) |
F1505S |
probably damaging |
Het |
Dhcr24 |
G |
T |
4: 106,418,291 (GRCm39) |
|
probably benign |
Het |
Dnajc21 |
A |
G |
15: 10,462,021 (GRCm39) |
S127P |
probably benign |
Het |
Entpd7 |
A |
T |
19: 43,716,527 (GRCm39) |
Y507F |
possibly damaging |
Het |
Fbp1 |
T |
C |
13: 63,019,120 (GRCm39) |
K24E |
probably benign |
Het |
Galr1 |
A |
T |
18: 82,424,048 (GRCm39) |
N76K |
probably damaging |
Het |
Glrb |
A |
G |
3: 80,767,542 (GRCm39) |
I226T |
probably damaging |
Het |
Gm17421 |
T |
A |
12: 113,333,107 (GRCm39) |
|
noncoding transcript |
Het |
Gm4950 |
T |
A |
18: 51,998,856 (GRCm39) |
Q33L |
probably benign |
Het |
Gnat2 |
A |
T |
3: 108,002,855 (GRCm39) |
M88L |
probably damaging |
Het |
Gpr183 |
A |
G |
14: 122,191,589 (GRCm39) |
Y311H |
probably damaging |
Het |
H2-M10.5 |
A |
G |
17: 37,085,891 (GRCm39) |
I308V |
probably benign |
Het |
Hipk3 |
C |
T |
2: 104,301,830 (GRCm39) |
G121R |
probably benign |
Het |
Hjurp |
A |
G |
1: 88,194,283 (GRCm39) |
|
probably benign |
Het |
Homez |
C |
A |
14: 55,095,031 (GRCm39) |
V226F |
probably benign |
Het |
Inf2 |
C |
A |
12: 112,577,258 (GRCm39) |
A1034D |
unknown |
Het |
Kcnc4 |
G |
T |
3: 107,352,863 (GRCm39) |
P572T |
probably benign |
Het |
Kmt2d |
T |
C |
15: 98,760,147 (GRCm39) |
E1037G |
unknown |
Het |
Krt78 |
T |
C |
15: 101,855,699 (GRCm39) |
E704G |
probably damaging |
Het |
Lama1 |
A |
T |
17: 68,057,548 (GRCm39) |
M541L |
probably benign |
Het |
Lmbrd2 |
C |
T |
15: 9,194,852 (GRCm39) |
T618M |
possibly damaging |
Het |
Ly6g6e |
G |
A |
17: 35,297,122 (GRCm39) |
R121Q |
probably benign |
Het |
Mettl22 |
T |
C |
16: 8,305,225 (GRCm39) |
F293L |
probably damaging |
Het |
Mib1 |
T |
C |
18: 10,751,906 (GRCm39) |
S263P |
probably damaging |
Het |
Ndufaf1 |
T |
C |
2: 119,486,218 (GRCm39) |
E298G |
probably damaging |
Het |
Nek1 |
T |
C |
8: 61,472,935 (GRCm39) |
V152A |
probably damaging |
Het |
Nlrp4d |
T |
A |
7: 10,096,872 (GRCm39) |
D876V |
probably benign |
Het |
Or10d5 |
A |
G |
9: 39,861,824 (GRCm39) |
L81P |
possibly damaging |
Het |
Or11g7 |
T |
C |
14: 50,690,893 (GRCm39) |
L128P |
probably damaging |
Het |
Or5an11 |
A |
T |
19: 12,246,283 (GRCm39) |
T230S |
probably damaging |
Het |
Or5k15 |
T |
C |
16: 58,710,328 (GRCm39) |
E85G |
probably benign |
Het |
Pcdha11 |
G |
T |
18: 37,140,325 (GRCm39) |
L651F |
probably damaging |
Het |
Plekhg1 |
G |
A |
10: 3,908,048 (GRCm39) |
M988I |
probably benign |
Het |
Plxnb1 |
G |
A |
9: 108,937,506 (GRCm39) |
R1169H |
probably benign |
Het |
Ppp4r3a |
A |
G |
12: 101,008,912 (GRCm39) |
|
probably benign |
Het |
Pum2 |
A |
T |
12: 8,798,931 (GRCm39) |
Q930L |
possibly damaging |
Het |
Rbp4 |
T |
C |
19: 38,112,792 (GRCm39) |
E67G |
probably damaging |
Het |
Rgs9 |
C |
A |
11: 109,116,603 (GRCm39) |
|
probably null |
Het |
Semp2l1 |
C |
T |
1: 32,584,942 (GRCm39) |
A323T |
possibly damaging |
Het |
Sipa1 |
A |
T |
19: 5,702,140 (GRCm39) |
D923E |
possibly damaging |
Het |
Smc1a |
A |
G |
X: 150,830,971 (GRCm39) |
|
probably benign |
Het |
Snx33 |
C |
A |
9: 56,825,822 (GRCm39) |
M546I |
probably benign |
Het |
Spag17 |
T |
A |
3: 99,934,935 (GRCm39) |
W714R |
probably benign |
Het |
Spata2 |
C |
T |
2: 167,326,126 (GRCm39) |
R231Q |
probably damaging |
Het |
Stard9 |
C |
T |
2: 120,530,765 (GRCm39) |
R2341C |
probably benign |
Het |
Tas2r116 |
A |
T |
6: 132,832,557 (GRCm39) |
I53F |
possibly damaging |
Het |
Tlk1 |
T |
C |
2: 70,600,349 (GRCm39) |
E110G |
probably damaging |
Het |
Tmem102 |
T |
A |
11: 69,695,363 (GRCm39) |
E203V |
probably benign |
Het |
Top2b |
T |
G |
14: 16,409,189 (GRCm38) |
I777M |
probably damaging |
Het |
Tyw5 |
A |
G |
1: 57,435,907 (GRCm39) |
I82T |
possibly damaging |
Het |
Uba6 |
A |
G |
5: 86,280,475 (GRCm39) |
|
probably null |
Het |
Ugcg |
C |
T |
4: 59,207,798 (GRCm39) |
P46S |
probably benign |
Het |
Unc13c |
T |
C |
9: 73,838,829 (GRCm39) |
Y674C |
probably damaging |
Het |
Vmn2r105 |
T |
A |
17: 20,448,097 (GRCm39) |
R242S |
probably benign |
Het |
Vmn2r12 |
A |
G |
5: 109,234,398 (GRCm39) |
Y605H |
probably benign |
Het |
Wdr77 |
A |
T |
3: 105,867,337 (GRCm39) |
K62* |
probably null |
Het |
Zfhx4 |
C |
A |
3: 5,455,465 (GRCm39) |
A1153E |
probably benign |
Het |
Zfp266 |
C |
A |
9: 20,410,558 (GRCm39) |
V540L |
possibly damaging |
Het |
Zfp638 |
C |
A |
6: 83,943,421 (GRCm39) |
|
probably benign |
Het |
Zfp644 |
A |
G |
5: 106,785,110 (GRCm39) |
M479T |
possibly damaging |
Het |
Zfp951 |
G |
A |
5: 104,963,143 (GRCm39) |
T141I |
probably benign |
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 |
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 |
10,537,652 (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'- GGATTAAACGTGGCAGCGTATATAG -3'
(R):5'- TTTCCCAAGGGTCGCTTTTG -3'
Sequencing Primer
(F):5'- GCAGCGTATATAGTAAGCTTGC -3'
(R):5'- CCCAAGGGTCGCTTTTGTTAGC -3'
|
Posted On |
2014-11-12 |