Incidental Mutation 'R9006:Ttc21a'
| ID |
723599 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Ttc21a
|
| Ensembl Gene |
ENSMUSG00000032514 |
| Gene Name |
tetratricopeptide repeat domain 21A |
| Synonyms |
Thm2, 4921538N17Rik |
| MMRRC Submission |
068836-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.187)
|
| Stock # |
R9006 (G1)
|
| Quality Score |
94.0077 |
|
Status
|
Validated
|
| Chromosome |
9 |
| Chromosomal Location |
119766672-119796859 bp(+) (GRCm39) |
| Type of Mutation |
intron |
| DNA Base Change (assembly) |
T to A
at 119792130 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000136413
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000035100]
[ENSMUST00000177637]
|
| AlphaFold |
Q8C0S4 |
| Predicted Effect |
probably benign
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 |
0.0846 |
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.6%
- 20x: 98.7%
|
| Validation Efficiency |
97% (72/74) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 74 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abcc6 |
T |
C |
7: 45,665,820 (GRCm39) |
N267D |
probably benign |
Het |
| Akap1 |
A |
T |
11: 88,723,996 (GRCm39) |
M803K |
possibly damaging |
Het |
| Amer2 |
G |
C |
14: 60,617,376 (GRCm39) |
D524H |
probably damaging |
Het |
| Ankrd31 |
T |
C |
13: 96,967,104 (GRCm39) |
F528L |
probably benign |
Het |
| Arhgef10l |
A |
G |
4: 140,271,659 (GRCm39) |
Y624H |
probably benign |
Het |
| Bltp2 |
T |
C |
11: 78,164,345 (GRCm39) |
F1182L |
possibly damaging |
Het |
| Cfap73 |
G |
A |
5: 120,767,760 (GRCm39) |
Q264* |
probably null |
Het |
| Clca3a2 |
C |
A |
3: 144,783,789 (GRCm39) |
A609S |
probably damaging |
Het |
| Cntfr |
A |
T |
4: 41,661,971 (GRCm39) |
|
probably null |
Het |
| Cyp2c65 |
C |
T |
19: 39,070,714 (GRCm39) |
T299I |
probably damaging |
Het |
| Cyp2j5 |
G |
T |
4: 96,552,149 (GRCm39) |
N33K |
probably benign |
Het |
| Dhcr7 |
T |
A |
7: 143,394,978 (GRCm39) |
S165T |
probably benign |
Het |
| Dnah10 |
A |
T |
5: 124,820,783 (GRCm39) |
D539V |
probably benign |
Het |
| Ebag9 |
A |
T |
15: 44,503,703 (GRCm39) |
Q176L |
probably benign |
Het |
| Fbxw20 |
T |
A |
9: 109,062,530 (GRCm39) |
|
probably benign |
Het |
| Ftmt |
A |
G |
18: 52,465,112 (GRCm39) |
K143E |
possibly damaging |
Het |
| Gcc2 |
C |
T |
10: 58,103,801 (GRCm39) |
R76C |
probably damaging |
Het |
| Gcn1 |
A |
G |
5: 115,719,566 (GRCm39) |
T354A |
probably benign |
Het |
| Gtf2h1 |
A |
G |
7: 46,458,262 (GRCm39) |
M271V |
probably benign |
Het |
| Iah1 |
G |
A |
12: 21,367,402 (GRCm39) |
G36D |
probably damaging |
Het |
| Ism2 |
G |
T |
12: 87,326,969 (GRCm39) |
D323E |
probably damaging |
Het |
| Itih4 |
A |
G |
14: 30,612,086 (GRCm39) |
I184V |
probably damaging |
Het |
| Kdm4d |
C |
A |
9: 14,374,833 (GRCm39) |
V342L |
probably benign |
Het |
| Lmbr1 |
A |
G |
5: 29,551,900 (GRCm39) |
F62L |
probably benign |
Het |
| Lmo7 |
TCGGATTCTGTGGC |
TC |
14: 102,155,072 (GRCm39) |
|
probably benign |
Het |
| Lypd8 |
T |
A |
11: 58,277,586 (GRCm39) |
S123T |
possibly damaging |
Het |
| Mical2 |
T |
A |
7: 111,981,323 (GRCm39) |
N432K |
probably benign |
Het |
| Mrgprb4 |
A |
G |
7: 47,848,343 (GRCm39) |
V195A |
probably benign |
Het |
| Ms4a4c |
A |
T |
19: 11,396,360 (GRCm39) |
I106F |
probably benign |
Het |
| Myo6 |
A |
G |
9: 80,136,140 (GRCm39) |
T88A |
unknown |
Het |
| Naa35 |
A |
G |
13: 59,748,842 (GRCm39) |
D158G |
possibly damaging |
Het |
| Nol12 |
A |
G |
15: 78,824,291 (GRCm39) |
E137G |
possibly damaging |
Het |
| Nsun4 |
A |
G |
4: 115,897,316 (GRCm39) |
S232P |
probably damaging |
Het |
| Odad2 |
A |
T |
18: 7,294,516 (GRCm39) |
N32K |
probably benign |
Het |
| Odam |
A |
T |
5: 88,040,298 (GRCm39) |
I255L |
probably benign |
Het |
| Or14j8 |
A |
T |
17: 38,263,545 (GRCm39) |
Y123* |
probably null |
Het |
| Or1ad8 |
A |
T |
11: 50,897,975 (GRCm39) |
M59L |
probably damaging |
Het |
| Or1e26 |
T |
A |
11: 73,480,036 (GRCm39) |
H176L |
probably benign |
Het |
| Or2n1d |
T |
C |
17: 38,646,723 (GRCm39) |
V225A |
possibly damaging |
Het |
| Or2w3b |
G |
A |
11: 58,623,188 (GRCm39) |
Q268* |
probably null |
Het |
| Or4b1 |
T |
G |
2: 89,980,327 (GRCm39) |
T8P |
probably damaging |
Het |
| Pcnx2 |
T |
C |
8: 126,613,996 (GRCm39) |
D485G |
probably benign |
Het |
| Polr3b |
T |
A |
10: 84,467,697 (GRCm39) |
N92K |
probably benign |
Het |
| Rpgrip1l |
T |
A |
8: 92,007,436 (GRCm39) |
M385L |
probably benign |
Het |
| Sdk1 |
A |
T |
5: 141,923,321 (GRCm39) |
N314I |
probably damaging |
Het |
| Shc4 |
T |
C |
2: 125,514,394 (GRCm39) |
|
probably benign |
Het |
| Slc45a1 |
A |
C |
4: 150,722,731 (GRCm39) |
C384W |
probably damaging |
Het |
| Slc4a11 |
C |
T |
2: 130,532,773 (GRCm39) |
V227M |
probably damaging |
Het |
| Sorbs2 |
A |
C |
8: 46,258,858 (GRCm39) |
S1132R |
possibly damaging |
Het |
| Spata31e3 |
G |
A |
13: 50,401,589 (GRCm39) |
H246Y |
possibly damaging |
Het |
| Spata31f1e |
C |
T |
4: 42,792,546 (GRCm39) |
G529S |
probably benign |
Het |
| Spta1 |
T |
A |
1: 174,047,537 (GRCm39) |
I1727K |
probably damaging |
Het |
| Srgap2 |
T |
C |
1: 131,283,307 (GRCm39) |
E258G |
probably damaging |
Het |
| Taco1 |
A |
T |
11: 105,956,931 (GRCm39) |
|
probably benign |
Het |
| Taf2 |
A |
T |
15: 54,909,301 (GRCm39) |
M648K |
possibly damaging |
Het |
| Taf7 |
A |
G |
18: 37,775,757 (GRCm39) |
V270A |
probably benign |
Het |
| Tbkbp1 |
G |
A |
11: 97,029,707 (GRCm39) |
T483I |
unknown |
Het |
| Tesc |
A |
G |
5: 118,184,378 (GRCm39) |
|
probably null |
Het |
| Tgs1 |
A |
G |
4: 3,595,427 (GRCm39) |
N532S |
probably benign |
Het |
| Tmco1 |
C |
T |
1: 167,136,132 (GRCm39) |
|
probably benign |
Het |
| Tmem196 |
T |
A |
12: 119,978,510 (GRCm39) |
C84S |
probably damaging |
Het |
| Topbp1 |
C |
T |
9: 103,182,499 (GRCm39) |
|
probably benign |
Het |
| Ttc16 |
A |
G |
2: 32,652,985 (GRCm39) |
S615P |
probably benign |
Het |
| Tuba3b |
T |
C |
6: 145,565,564 (GRCm39) |
V344A |
possibly damaging |
Het |
| Tubgcp4 |
T |
C |
2: 121,015,251 (GRCm39) |
F320L |
probably benign |
Het |
| Tusc3 |
T |
A |
8: 39,538,627 (GRCm39) |
L222* |
probably null |
Het |
| Ubr4 |
G |
A |
4: 139,172,003 (GRCm39) |
|
probably null |
Het |
| Uncx |
G |
T |
5: 139,532,936 (GRCm39) |
V334L |
possibly damaging |
Het |
| Vezf1 |
C |
A |
11: 87,965,542 (GRCm39) |
F261L |
probably damaging |
Het |
| Vezt |
T |
A |
10: 93,809,874 (GRCm39) |
I556L |
probably benign |
Het |
| Vmn1r172 |
C |
T |
7: 23,359,402 (GRCm39) |
R96C |
probably benign |
Het |
| Zfp383 |
A |
G |
7: 29,608,070 (GRCm39) |
M1V |
probably null |
Het |
| Zfp558 |
A |
T |
9: 18,367,776 (GRCm39) |
S337R |
possibly damaging |
Het |
| Zranb1 |
T |
A |
7: 132,572,909 (GRCm39) |
|
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 |
|
R8912:Ttc21a
|
UTSW |
9 |
119,770,367 (GRCm39) |
critical splice donor site |
probably null |
|
|
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'- AAGCCTGCCATCTATCCTGG -3'
(R):5'- GGTCTGCTCCATCTCTAAGAGG -3'
Sequencing Primer
(F):5'- GCCATCTATCCTGGTGTCCGG -3'
(R):5'- GCACAGCGCTGTTCACAC -3'
|
| Posted On |
2022-09-08 |
Incidental Mutation