Incidental Mutation 'R5109:Ttc23l'
ID |
393767 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Ttc23l
|
Ensembl Gene |
ENSMUSG00000022249 |
Gene Name |
tetratricopeptide repeat domain 23-like |
Synonyms |
4930401A09Rik |
MMRRC Submission |
042697-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.079)
|
Stock # |
R5109 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
15 |
Chromosomal Location |
10500188-10558754 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
G to T
at 10551636 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Threonine to Lysine
at position 30
(T30K)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000022857
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000022857]
[ENSMUST00000166039]
[ENSMUST00000167842]
[ENSMUST00000167842]
|
AlphaFold |
A6H6E9 |
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000022857
AA Change: T30K
PolyPhen 2
Score 0.955 (Sensitivity: 0.79; Specificity: 0.95)
|
SMART Domains |
Protein: ENSMUSP00000022857 Gene: ENSMUSG00000022249 AA Change: T30K
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 |
possibly damaging
Transcript: ENSMUST00000167842
AA Change: T30K
PolyPhen 2
Score 0.856 (Sensitivity: 0.83; Specificity: 0.93)
|
SMART Domains |
Protein: ENSMUSP00000127781 Gene: ENSMUSG00000022249 AA Change: T30K
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 |
possibly damaging
Transcript: ENSMUST00000167842
AA Change: T30K
PolyPhen 2
Score 0.856 (Sensitivity: 0.83; Specificity: 0.93)
|
Meta Mutation Damage Score |
0.1531 |
Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.2%
- 10x: 95.9%
- 20x: 91.2%
|
Validation Efficiency |
95% (78/82) |
Allele List at MGI |
|
Other mutations in this stock |
Total: 72 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Ankrd17 |
T |
C |
5: 90,391,395 (GRCm39) |
S1841G |
possibly damaging |
Het |
Anxa10 |
T |
C |
8: 62,516,093 (GRCm39) |
E193G |
possibly damaging |
Het |
Ap3d1 |
T |
C |
10: 80,545,284 (GRCm39) |
S1056G |
probably benign |
Het |
Apbb1 |
T |
C |
7: 105,214,242 (GRCm39) |
N62D |
probably damaging |
Het |
Apobec2 |
A |
T |
17: 48,730,022 (GRCm39) |
Y215N |
probably damaging |
Het |
Apobec2 |
T |
A |
17: 48,730,024 (GRCm39) |
Y214F |
probably damaging |
Het |
Appl2 |
A |
T |
10: 83,436,871 (GRCm39) |
V630E |
probably benign |
Het |
Bud23 |
T |
C |
5: 135,089,877 (GRCm39) |
|
probably benign |
Het |
Cacna1b |
A |
T |
2: 24,580,797 (GRCm39) |
M683K |
possibly damaging |
Het |
Cbfa2t2 |
T |
A |
2: 154,373,293 (GRCm39) |
D187E |
probably damaging |
Het |
Cfap54 |
G |
T |
10: 92,773,753 (GRCm39) |
F96L |
probably benign |
Het |
Cimap1a |
A |
T |
7: 140,429,461 (GRCm39) |
S197C |
probably benign |
Het |
Crebbp |
A |
G |
16: 3,906,295 (GRCm39) |
|
probably benign |
Het |
Crocc |
C |
T |
4: 140,755,722 (GRCm39) |
R1102Q |
probably damaging |
Het |
Dcaf12 |
T |
C |
4: 41,298,329 (GRCm39) |
D273G |
possibly damaging |
Het |
Dchs1 |
T |
C |
7: 105,414,221 (GRCm39) |
T865A |
probably benign |
Het |
Dhfr |
A |
T |
13: 92,491,788 (GRCm39) |
I8F |
probably damaging |
Het |
Dnaja2 |
A |
T |
8: 86,279,887 (GRCm39) |
F97L |
possibly damaging |
Het |
Dnase1l1 |
C |
T |
X: 73,320,644 (GRCm39) |
|
probably null |
Het |
Doc2b |
T |
C |
11: 75,667,967 (GRCm39) |
D261G |
probably benign |
Het |
Ear1 |
A |
G |
14: 44,056,485 (GRCm39) |
Y128H |
probably benign |
Het |
Elac2 |
T |
A |
11: 64,883,142 (GRCm39) |
I171N |
probably damaging |
Het |
Entpd3 |
C |
A |
9: 120,395,380 (GRCm39) |
N454K |
possibly damaging |
Het |
Flrt3 |
A |
G |
2: 140,502,663 (GRCm39) |
S322P |
possibly damaging |
Het |
Fn1 |
C |
T |
1: 71,688,394 (GRCm39) |
C170Y |
probably damaging |
Het |
Gabbr1 |
T |
A |
17: 37,382,920 (GRCm39) |
|
probably benign |
Het |
Gm7247 |
T |
G |
14: 51,602,774 (GRCm39) |
S37A |
probably damaging |
Het |
Gm8775 |
T |
A |
3: 4,277,008 (GRCm39) |
|
noncoding transcript |
Het |
Gprc5c |
G |
T |
11: 114,755,093 (GRCm39) |
V257L |
possibly damaging |
Het |
Gria4 |
A |
C |
9: 4,472,168 (GRCm39) |
N440K |
probably damaging |
Het |
H2-T22 |
T |
A |
17: 36,350,113 (GRCm39) |
R334* |
probably null |
Het |
Ift172 |
T |
C |
5: 31,423,330 (GRCm39) |
D817G |
probably benign |
Het |
Igkv9-124 |
T |
A |
6: 67,919,348 (GRCm39) |
R21S |
possibly damaging |
Het |
Itgam |
G |
A |
7: 127,712,390 (GRCm39) |
V846I |
probably benign |
Het |
Kif11 |
T |
A |
19: 37,373,063 (GRCm39) |
M94K |
possibly damaging |
Het |
Krtcap2 |
T |
C |
3: 89,154,085 (GRCm39) |
V2A |
probably benign |
Het |
Lrrc47 |
A |
G |
4: 154,101,933 (GRCm39) |
D400G |
probably damaging |
Het |
Man2a1 |
T |
A |
17: 65,059,443 (GRCm39) |
V1110E |
probably benign |
Het |
Mfsd9 |
T |
A |
1: 40,813,365 (GRCm39) |
I317F |
probably damaging |
Het |
Mindy4 |
A |
T |
6: 55,193,730 (GRCm39) |
|
probably null |
Het |
Mrpl53 |
A |
G |
6: 83,086,541 (GRCm39) |
T82A |
probably damaging |
Het |
Myo3b |
A |
G |
2: 69,925,637 (GRCm39) |
K35E |
possibly damaging |
Het |
Nalcn |
A |
G |
14: 123,515,650 (GRCm39) |
V1717A |
possibly damaging |
Het |
Ncoa2 |
A |
G |
1: 13,257,070 (GRCm39) |
V143A |
probably damaging |
Het |
Ndufa9 |
A |
C |
6: 126,809,520 (GRCm39) |
|
probably null |
Het |
Or10ag60 |
G |
A |
2: 87,438,319 (GRCm39) |
G196R |
possibly damaging |
Het |
Or10ag60 |
G |
A |
2: 87,437,755 (GRCm39) |
A8T |
possibly damaging |
Het |
Or12e9 |
A |
G |
2: 87,201,878 (GRCm39) |
M1V |
probably null |
Het |
Or5k17 |
A |
G |
16: 58,746,422 (GRCm39) |
S171P |
probably benign |
Het |
Or5p55 |
T |
C |
7: 107,567,104 (GRCm39) |
S167P |
probably benign |
Het |
Or6c202 |
T |
C |
10: 128,996,106 (GRCm39) |
Y249C |
probably damaging |
Het |
Or7g28 |
A |
T |
9: 19,272,438 (GRCm39) |
I71N |
probably damaging |
Het |
Or9g8 |
G |
A |
2: 85,607,668 (GRCm39) |
V247M |
probably damaging |
Het |
Pde4b |
G |
T |
4: 102,458,741 (GRCm39) |
A466S |
probably damaging |
Het |
Pfkfb3 |
A |
T |
2: 11,491,162 (GRCm39) |
|
probably benign |
Het |
Ppp1r21 |
A |
G |
17: 88,866,268 (GRCm39) |
K355E |
probably damaging |
Het |
Psme4 |
T |
A |
11: 30,741,095 (GRCm39) |
Y90* |
probably null |
Het |
Rbms1 |
G |
A |
2: 60,612,284 (GRCm39) |
L161F |
probably damaging |
Het |
Rdh16f2 |
A |
G |
10: 127,702,672 (GRCm39) |
D83G |
probably damaging |
Het |
Sec16b |
C |
T |
1: 157,392,361 (GRCm39) |
R910* |
probably null |
Het |
Sema4c |
CTGGGCTT |
C |
1: 36,591,381 (GRCm39) |
|
probably null |
Het |
Spata31e5 |
T |
C |
1: 28,816,636 (GRCm39) |
I465M |
possibly damaging |
Het |
Stambp |
A |
G |
6: 83,540,803 (GRCm39) |
|
probably null |
Het |
Tcf21 |
T |
C |
10: 22,695,558 (GRCm39) |
N82S |
probably damaging |
Het |
Tlr2 |
A |
T |
3: 83,745,030 (GRCm39) |
V351D |
probably damaging |
Het |
Tmem39a |
G |
A |
16: 38,411,326 (GRCm39) |
G359D |
probably damaging |
Het |
Vmn2r17 |
C |
A |
5: 109,577,342 (GRCm39) |
F464L |
probably benign |
Het |
Vmn2r49 |
T |
A |
7: 9,710,204 (GRCm39) |
T843S |
probably benign |
Het |
Vmn2r7 |
T |
C |
3: 64,598,088 (GRCm39) |
D823G |
probably null |
Het |
Wrnip1 |
T |
A |
13: 33,000,319 (GRCm39) |
L442Q |
probably damaging |
Het |
Zbtb38 |
G |
T |
9: 96,569,062 (GRCm39) |
S674Y |
probably damaging |
Het |
Zfp639 |
T |
G |
3: 32,574,585 (GRCm39) |
|
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 |
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 |
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'- TGCATGCTTTCAAATGACAACC -3'
(R):5'- CCACACTGCTGGCTTAGAAG -3'
Sequencing Primer
(F):5'- TGCTTTCAAATGACAACCTGAAC -3'
(R):5'- CTTAGAAGCTAGGTCTTGAGAGTAG -3'
|
Posted On |
2016-06-15 |