Incidental Mutation 'R8912:Ttc21a'
ID |
678696 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Ttc21a
|
Ensembl Gene |
ENSMUSG00000032514 |
Gene Name |
tetratricopeptide repeat domain 21A |
Synonyms |
Thm2, 4921538N17Rik |
MMRRC Submission |
068765-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.187)
|
Stock # |
R8912 (G1)
|
Quality Score |
225.009 |
Status
|
Validated
|
Chromosome |
9 |
Chromosomal Location |
119766672-119796859 bp(+) (GRCm39) |
Type of Mutation |
critical splice donor site (2 bp from exon) |
DNA Base Change (assembly) |
T to C
at 119770367 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
|
Ref Sequence |
ENSEMBL: ENSMUSP00000035100
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000035099]
[ENSMUST00000035100]
[ENSMUST00000035100]
[ENSMUST00000177637]
|
AlphaFold |
Q8C0S4 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000035099
|
SMART Domains |
Protein: ENSMUSP00000035099 Gene: ENSMUSG00000032513
Domain | Start | End | E-Value | Type |
Pfam:GRASP55_65
|
2 |
99 |
2.6e-22 |
PFAM |
Pfam:GRASP55_65
|
68 |
204 |
4e-60 |
PFAM |
low complexity region
|
212 |
224 |
N/A |
INTRINSIC |
low complexity region
|
329 |
361 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably null
Transcript: ENSMUST00000035100
|
SMART Domains |
Protein: ENSMUSP00000035100 Gene: ENSMUSG00000032514
Domain | Start | End | E-Value | Type |
low complexity region
|
107 |
118 |
N/A |
INTRINSIC |
Blast:TPR
|
214 |
247 |
6e-11 |
BLAST |
TPR
|
326 |
359 |
4.55e1 |
SMART |
TPR
|
494 |
527 |
1.97e1 |
SMART |
Blast:TPR
|
528 |
561 |
1e-14 |
BLAST |
TPR
|
565 |
598 |
2.63e1 |
SMART |
Blast:TPR
|
617 |
649 |
6e-11 |
BLAST |
TPR
|
721 |
754 |
1.33e0 |
SMART |
TPR
|
755 |
788 |
4.84e-3 |
SMART |
TPR
|
790 |
821 |
1.14e1 |
SMART |
TPR
|
883 |
916 |
9.03e-3 |
SMART |
low complexity region
|
921 |
935 |
N/A |
INTRINSIC |
TPR
|
951 |
984 |
1.08e1 |
SMART |
Blast:TPR
|
1022 |
1054 |
3e-12 |
BLAST |
low complexity region
|
1117 |
1129 |
N/A |
INTRINSIC |
TPR
|
1195 |
1228 |
2.22e-2 |
SMART |
TPR
|
1264 |
1297 |
9.73e1 |
SMART |
|
Predicted Effect |
probably null
Transcript: ENSMUST00000035100
|
SMART Domains |
Protein: ENSMUSP00000035100 Gene: ENSMUSG00000032514
Domain | Start | End | E-Value | Type |
low complexity region
|
107 |
118 |
N/A |
INTRINSIC |
Blast:TPR
|
214 |
247 |
6e-11 |
BLAST |
TPR
|
326 |
359 |
4.55e1 |
SMART |
TPR
|
494 |
527 |
1.97e1 |
SMART |
Blast:TPR
|
528 |
561 |
1e-14 |
BLAST |
TPR
|
565 |
598 |
2.63e1 |
SMART |
Blast:TPR
|
617 |
649 |
6e-11 |
BLAST |
TPR
|
721 |
754 |
1.33e0 |
SMART |
TPR
|
755 |
788 |
4.84e-3 |
SMART |
TPR
|
790 |
821 |
1.14e1 |
SMART |
TPR
|
883 |
916 |
9.03e-3 |
SMART |
low complexity region
|
921 |
935 |
N/A |
INTRINSIC |
TPR
|
951 |
984 |
1.08e1 |
SMART |
Blast:TPR
|
1022 |
1054 |
3e-12 |
BLAST |
low complexity region
|
1117 |
1129 |
N/A |
INTRINSIC |
TPR
|
1195 |
1228 |
2.22e-2 |
SMART |
TPR
|
1264 |
1297 |
9.73e1 |
SMART |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000177637
|
SMART Domains |
Protein: ENSMUSP00000136413 Gene: ENSMUSG00000052336
Domain | Start | End | E-Value | Type |
Pfam:7tm_1
|
49 |
294 |
3.5e-50 |
PFAM |
|
Meta Mutation Damage Score |
0.9491 |
Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.8%
- 20x: 99.2%
|
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 |
1700069L16Rik |
C |
T |
5: 113,861,767 (GRCm39) |
W34* |
probably null |
Het |
Adck5 |
T |
C |
15: 76,477,435 (GRCm39) |
S90P |
probably damaging |
Het |
Adgra3 |
C |
A |
5: 50,118,273 (GRCm39) |
A1092S |
possibly damaging |
Het |
Arhgap33 |
A |
T |
7: 30,232,467 (GRCm39) |
|
probably benign |
Het |
Arih2 |
C |
G |
9: 108,488,938 (GRCm39) |
R260P |
probably damaging |
Het |
Atp6ap1l |
T |
A |
13: 91,046,979 (GRCm39) |
|
probably null |
Het |
Brd2 |
A |
T |
17: 34,332,458 (GRCm39) |
|
probably benign |
Het |
Cfap46 |
A |
T |
7: 139,260,097 (GRCm39) |
|
probably benign |
Het |
Ciao1 |
A |
G |
2: 127,088,599 (GRCm39) |
V108A |
possibly damaging |
Het |
Clba1 |
T |
C |
12: 112,779,323 (GRCm39) |
V320A |
possibly damaging |
Het |
Dnah3 |
T |
A |
7: 119,689,869 (GRCm39) |
H22L |
probably benign |
Het |
Dnajc6 |
A |
G |
4: 101,468,513 (GRCm39) |
Y251C |
probably damaging |
Het |
Dsg2 |
T |
A |
18: 20,715,878 (GRCm39) |
N273K |
probably damaging |
Het |
Egf |
A |
G |
3: 129,531,164 (GRCm39) |
V137A |
possibly damaging |
Het |
Ercc6 |
C |
T |
14: 32,248,211 (GRCm39) |
P254L |
probably benign |
Het |
Erh |
G |
T |
12: 80,684,282 (GRCm39) |
A65E |
probably benign |
Het |
Fbln2 |
A |
G |
6: 91,240,420 (GRCm39) |
E789G |
possibly damaging |
Het |
Fbxl13 |
T |
G |
5: 21,727,184 (GRCm39) |
D571A |
probably damaging |
Het |
Fbxw26 |
T |
A |
9: 109,561,717 (GRCm39) |
E159V |
probably damaging |
Het |
Fndc1 |
T |
C |
17: 8,019,778 (GRCm39) |
I134V |
probably null |
Het |
Fsip2 |
A |
G |
2: 82,810,938 (GRCm39) |
D2419G |
probably benign |
Het |
Gm3371 |
T |
C |
14: 44,641,238 (GRCm39) |
K109E |
|
Het |
Gm5414 |
A |
G |
15: 101,536,620 (GRCm39) |
S2P |
possibly damaging |
Het |
Igkv1-110 |
G |
T |
6: 68,247,950 (GRCm39) |
D20Y |
probably damaging |
Het |
Il18rap |
C |
T |
1: 40,582,177 (GRCm39) |
T366M |
probably benign |
Het |
Ippk |
A |
G |
13: 49,603,513 (GRCm39) |
D422G |
probably damaging |
Het |
Irs2 |
A |
T |
8: 11,056,655 (GRCm39) |
D592E |
probably damaging |
Het |
Klra9 |
A |
G |
6: 130,159,368 (GRCm39) |
I215T |
probably damaging |
Het |
Lrrc8b |
T |
A |
5: 105,629,424 (GRCm39) |
L590Q |
probably damaging |
Het |
Myh10 |
A |
G |
11: 68,680,929 (GRCm39) |
|
probably null |
Het |
Neto1 |
A |
G |
18: 86,479,173 (GRCm39) |
D159G |
probably damaging |
Het |
Nr1d2 |
T |
C |
14: 18,220,030 (GRCm38) |
K104E |
probably damaging |
Het |
Nrcam |
T |
C |
12: 44,645,366 (GRCm39) |
V1256A |
probably damaging |
Het |
Nufip2 |
T |
C |
11: 77,632,554 (GRCm39) |
V690A |
unknown |
Het |
Or13e8 |
T |
A |
4: 43,697,017 (GRCm39) |
D52V |
probably benign |
Het |
Or2n1d |
A |
T |
17: 38,646,320 (GRCm39) |
T91S |
possibly damaging |
Het |
Or5h19 |
A |
G |
16: 58,856,263 (GRCm39) |
V279A |
probably benign |
Het |
Or9m1b |
C |
T |
2: 87,836,661 (GRCm39) |
A145T |
possibly damaging |
Het |
Patj |
A |
G |
4: 98,385,565 (GRCm39) |
H444R |
|
Het |
Pclo |
T |
C |
5: 14,825,335 (GRCm39) |
L1356P |
|
Het |
Pde4dip |
A |
G |
3: 97,617,633 (GRCm39) |
S1732P |
probably damaging |
Het |
Pi4ka |
A |
T |
16: 17,207,230 (GRCm39) |
I25N |
|
Het |
Pira13 |
A |
T |
7: 3,825,818 (GRCm39) |
D350E |
unknown |
Het |
Pou2f3 |
C |
A |
9: 43,110,336 (GRCm39) |
V30L |
probably benign |
Het |
Qrich2 |
GCTGCACCTGGTTGCAACACACCAGGCTGAACTGCACCTGGTTGCAACACACCAGGCTGAACTGCACCTGGTTGCAACACACCAGGCTGAACTGCACCTGGTTG |
GCTGCACCTGGTTGCAACACACCAGGCTGAACTGCACCTGGTTGCAACACACCAGGCTGAACTGCACCTGGTTG |
11: 116,348,367 (GRCm39) |
|
probably benign |
Het |
Reck |
T |
A |
4: 43,938,802 (GRCm39) |
|
probably benign |
Het |
Sdha |
A |
T |
13: 74,475,323 (GRCm39) |
|
probably benign |
Het |
Serinc1 |
A |
C |
10: 57,400,075 (GRCm39) |
S191A |
probably benign |
Het |
Sgo2a |
T |
C |
1: 58,056,560 (GRCm39) |
S915P |
probably damaging |
Het |
Sgsh |
T |
C |
11: 119,243,486 (GRCm39) |
T79A |
probably damaging |
Het |
Sik1 |
A |
G |
17: 32,069,919 (GRCm39) |
V207A |
possibly damaging |
Het |
Skap1 |
A |
T |
11: 96,644,902 (GRCm39) |
I338F |
probably damaging |
Het |
Skic3 |
T |
A |
13: 76,305,361 (GRCm39) |
|
probably benign |
Het |
Sowahc |
G |
T |
10: 59,057,813 (GRCm39) |
|
probably benign |
Het |
Spata31d1d |
T |
C |
13: 59,875,136 (GRCm39) |
K800E |
possibly damaging |
Het |
Spin1 |
T |
A |
13: 51,298,433 (GRCm39) |
W151R |
probably damaging |
Het |
Srfbp1 |
A |
G |
18: 52,623,686 (GRCm39) |
T438A |
possibly damaging |
Het |
Srrm2 |
A |
G |
17: 24,038,575 (GRCm39) |
T1740A |
probably benign |
Het |
Tacr1 |
A |
T |
6: 82,534,014 (GRCm39) |
S347C |
probably damaging |
Het |
Taf1b |
T |
C |
12: 24,566,860 (GRCm39) |
S185P |
possibly damaging |
Het |
Tanc2 |
C |
T |
11: 105,758,153 (GRCm39) |
T638I |
probably benign |
Het |
Tdrkh |
T |
C |
3: 94,336,478 (GRCm39) |
Y472H |
probably damaging |
Het |
Trav4-2 |
C |
G |
14: 53,656,266 (GRCm39) |
Y89* |
probably null |
Het |
Trpm1 |
G |
T |
7: 63,918,628 (GRCm39) |
R1540L |
probably benign |
Het |
Tti1 |
A |
G |
2: 157,851,188 (GRCm39) |
V17A |
probably benign |
Het |
Vamp8 |
A |
G |
6: 72,365,276 (GRCm39) |
L44P |
probably benign |
Het |
Vmn1r63 |
G |
T |
7: 5,806,131 (GRCm39) |
S167Y |
probably damaging |
Het |
Xrn2 |
T |
C |
2: 146,891,913 (GRCm39) |
V710A |
probably benign |
Het |
Zfp518a |
A |
C |
19: 40,901,870 (GRCm39) |
K600Q |
possibly damaging |
Het |
Zfyve28 |
T |
C |
5: 34,374,655 (GRCm39) |
D453G |
probably benign |
Het |
|
Other mutations in Ttc21a |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL00576:Ttc21a
|
APN |
9 |
119,794,885 (GRCm39) |
missense |
probably damaging |
0.96 |
IGL01996:Ttc21a
|
APN |
9 |
119,787,182 (GRCm39) |
missense |
probably damaging |
0.99 |
IGL02160:Ttc21a
|
APN |
9 |
119,785,989 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02163:Ttc21a
|
APN |
9 |
119,779,901 (GRCm39) |
nonsense |
probably null |
|
IGL02252:Ttc21a
|
APN |
9 |
119,785,994 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02901:Ttc21a
|
APN |
9 |
119,787,347 (GRCm39) |
missense |
probably damaging |
0.98 |
IGL03105:Ttc21a
|
APN |
9 |
119,771,642 (GRCm39) |
missense |
probably benign |
0.01 |
IGL03155:Ttc21a
|
APN |
9 |
119,773,042 (GRCm39) |
critical splice donor site |
probably null |
|
IGL03323:Ttc21a
|
APN |
9 |
119,769,602 (GRCm39) |
intron |
probably benign |
|
R0054:Ttc21a
|
UTSW |
9 |
119,773,006 (GRCm39) |
missense |
probably damaging |
1.00 |
R0398:Ttc21a
|
UTSW |
9 |
119,783,628 (GRCm39) |
missense |
probably damaging |
1.00 |
R0452:Ttc21a
|
UTSW |
9 |
119,768,220 (GRCm39) |
intron |
probably benign |
|
R0541:Ttc21a
|
UTSW |
9 |
119,785,892 (GRCm39) |
intron |
probably benign |
|
R0545:Ttc21a
|
UTSW |
9 |
119,787,865 (GRCm39) |
missense |
probably damaging |
0.99 |
R0605:Ttc21a
|
UTSW |
9 |
119,790,908 (GRCm39) |
missense |
possibly damaging |
0.93 |
R1352:Ttc21a
|
UTSW |
9 |
119,783,718 (GRCm39) |
missense |
possibly damaging |
0.49 |
R1417:Ttc21a
|
UTSW |
9 |
119,783,327 (GRCm39) |
missense |
probably damaging |
0.99 |
R1471:Ttc21a
|
UTSW |
9 |
119,771,707 (GRCm39) |
missense |
probably damaging |
1.00 |
R1479:Ttc21a
|
UTSW |
9 |
119,786,013 (GRCm39) |
missense |
probably benign |
0.00 |
R1631:Ttc21a
|
UTSW |
9 |
119,783,228 (GRCm39) |
splice site |
probably null |
|
R1905:Ttc21a
|
UTSW |
9 |
119,795,823 (GRCm39) |
missense |
possibly damaging |
0.82 |
R2141:Ttc21a
|
UTSW |
9 |
119,793,361 (GRCm39) |
missense |
probably damaging |
0.98 |
R2213:Ttc21a
|
UTSW |
9 |
119,769,527 (GRCm39) |
missense |
probably benign |
0.01 |
R2265:Ttc21a
|
UTSW |
9 |
119,788,074 (GRCm39) |
missense |
possibly damaging |
0.62 |
R2327:Ttc21a
|
UTSW |
9 |
119,795,189 (GRCm39) |
missense |
probably damaging |
1.00 |
R2656:Ttc21a
|
UTSW |
9 |
119,770,331 (GRCm39) |
missense |
probably damaging |
0.98 |
R3000:Ttc21a
|
UTSW |
9 |
119,781,320 (GRCm39) |
missense |
probably benign |
0.02 |
R3792:Ttc21a
|
UTSW |
9 |
119,783,231 (GRCm39) |
missense |
probably damaging |
1.00 |
R3938:Ttc21a
|
UTSW |
9 |
119,779,882 (GRCm39) |
intron |
probably benign |
|
R4232:Ttc21a
|
UTSW |
9 |
119,771,684 (GRCm39) |
missense |
probably benign |
0.00 |
R4492:Ttc21a
|
UTSW |
9 |
119,770,346 (GRCm39) |
missense |
probably benign |
0.00 |
R4498:Ttc21a
|
UTSW |
9 |
119,787,885 (GRCm39) |
missense |
possibly damaging |
0.82 |
R4655:Ttc21a
|
UTSW |
9 |
119,790,828 (GRCm39) |
missense |
possibly damaging |
0.80 |
R4890:Ttc21a
|
UTSW |
9 |
119,788,103 (GRCm39) |
missense |
probably benign |
|
R4960:Ttc21a
|
UTSW |
9 |
119,774,067 (GRCm39) |
missense |
possibly damaging |
0.51 |
R4972:Ttc21a
|
UTSW |
9 |
119,774,027 (GRCm39) |
missense |
probably benign |
0.00 |
R5015:Ttc21a
|
UTSW |
9 |
119,795,195 (GRCm39) |
missense |
probably damaging |
0.98 |
R5092:Ttc21a
|
UTSW |
9 |
119,771,731 (GRCm39) |
missense |
probably benign |
0.01 |
R5117:Ttc21a
|
UTSW |
9 |
119,795,631 (GRCm39) |
missense |
possibly damaging |
0.64 |
R5123:Ttc21a
|
UTSW |
9 |
119,781,278 (GRCm39) |
missense |
probably benign |
0.04 |
R5452:Ttc21a
|
UTSW |
9 |
119,780,037 (GRCm39) |
missense |
probably benign |
0.00 |
R5733:Ttc21a
|
UTSW |
9 |
119,770,327 (GRCm39) |
missense |
probably benign |
|
R5734:Ttc21a
|
UTSW |
9 |
119,795,732 (GRCm39) |
missense |
probably benign |
|
R5869:Ttc21a
|
UTSW |
9 |
119,787,858 (GRCm39) |
missense |
probably benign |
0.03 |
R6214:Ttc21a
|
UTSW |
9 |
119,795,838 (GRCm39) |
missense |
probably damaging |
1.00 |
R6215:Ttc21a
|
UTSW |
9 |
119,795,838 (GRCm39) |
missense |
probably damaging |
1.00 |
R6279:Ttc21a
|
UTSW |
9 |
119,790,905 (GRCm39) |
missense |
possibly damaging |
0.78 |
R6284:Ttc21a
|
UTSW |
9 |
119,773,028 (GRCm39) |
missense |
probably damaging |
1.00 |
R6300:Ttc21a
|
UTSW |
9 |
119,790,905 (GRCm39) |
missense |
possibly damaging |
0.78 |
R6800:Ttc21a
|
UTSW |
9 |
119,770,268 (GRCm39) |
missense |
possibly damaging |
0.61 |
R6833:Ttc21a
|
UTSW |
9 |
119,771,701 (GRCm39) |
missense |
probably benign |
0.24 |
R7009:Ttc21a
|
UTSW |
9 |
119,787,139 (GRCm39) |
nonsense |
probably null |
|
R7060:Ttc21a
|
UTSW |
9 |
119,795,742 (GRCm39) |
missense |
probably damaging |
0.98 |
R7170:Ttc21a
|
UTSW |
9 |
119,774,607 (GRCm39) |
missense |
probably damaging |
0.99 |
R7418:Ttc21a
|
UTSW |
9 |
119,788,117 (GRCm39) |
missense |
probably benign |
0.01 |
R7438:Ttc21a
|
UTSW |
9 |
119,774,605 (GRCm39) |
missense |
probably damaging |
1.00 |
R7595:Ttc21a
|
UTSW |
9 |
119,787,135 (GRCm39) |
missense |
probably benign |
0.12 |
R7703:Ttc21a
|
UTSW |
9 |
119,788,095 (GRCm39) |
missense |
probably benign |
0.14 |
R8076:Ttc21a
|
UTSW |
9 |
119,795,392 (GRCm39) |
missense |
probably benign |
0.01 |
R8217:Ttc21a
|
UTSW |
9 |
119,783,694 (GRCm39) |
missense |
probably benign |
0.00 |
R8471:Ttc21a
|
UTSW |
9 |
119,792,242 (GRCm39) |
splice site |
probably null |
|
R8558:Ttc21a
|
UTSW |
9 |
119,787,835 (GRCm39) |
missense |
probably damaging |
0.97 |
R8696:Ttc21a
|
UTSW |
9 |
119,772,977 (GRCm39) |
missense |
possibly damaging |
0.80 |
R8739:Ttc21a
|
UTSW |
9 |
119,796,371 (GRCm39) |
missense |
probably benign |
0.00 |
R8768:Ttc21a
|
UTSW |
9 |
119,770,286 (GRCm39) |
missense |
probably damaging |
1.00 |
R9006:Ttc21a
|
UTSW |
9 |
119,792,130 (GRCm39) |
intron |
probably benign |
|
R9214:Ttc21a
|
UTSW |
9 |
119,772,941 (GRCm39) |
missense |
probably benign |
0.17 |
R9235:Ttc21a
|
UTSW |
9 |
119,774,559 (GRCm39) |
missense |
probably benign |
0.03 |
R9521:Ttc21a
|
UTSW |
9 |
119,787,181 (GRCm39) |
missense |
probably damaging |
0.98 |
R9643:Ttc21a
|
UTSW |
9 |
119,771,686 (GRCm39) |
missense |
probably benign |
|
RF004:Ttc21a
|
UTSW |
9 |
119,795,838 (GRCm39) |
missense |
probably damaging |
1.00 |
Z1177:Ttc21a
|
UTSW |
9 |
119,771,746 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Predicted Primers |
PCR Primer
(F):5'- ATGCATCAGAAGAGGACATCCG -3'
(R):5'- CATTTAGACCTGCCTGTGCC -3'
Sequencing Primer
(F):5'- TCCTCCTCGATGTAGACATAGAAG -3'
(R):5'- CTCACTGCCAGGCGTATG -3'
|
Posted On |
2021-08-02 |