Incidental Mutation 'R9214:Ttc21a'
ID |
699076 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Ttc21a
|
Ensembl Gene |
ENSMUSG00000032514 |
Gene Name |
tetratricopeptide repeat domain 21A |
Synonyms |
Thm2, 4921538N17Rik |
MMRRC Submission |
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.187)
|
Stock # |
R9214 (G1)
|
Quality Score |
225.009 |
Status
|
Validated
|
Chromosome |
9 |
Chromosomal Location |
119766672-119796859 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 119772941 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Valine to Alanine
at position 206
(V206A)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000035100
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000035100]
[ENSMUST00000177637]
|
AlphaFold |
Q8C0S4 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000035100
AA Change: V206A
PolyPhen 2
Score 0.173 (Sensitivity: 0.92; Specificity: 0.87)
|
SMART Domains |
Protein: ENSMUSP00000035100 Gene: ENSMUSG00000032514 AA Change: V206A
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 |
|
Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.8%
- 20x: 99.2%
|
Validation Efficiency |
100% (64/64) |
Allele List at MGI |
|
Other mutations in this stock |
Total: 66 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
4930563M21Rik |
T |
C |
9: 55,890,653 (GRCm39) |
D352G |
probably benign |
Het |
Abi1 |
A |
T |
2: 22,831,989 (GRCm39) |
Y447* |
probably null |
Het |
Acot1 |
A |
G |
12: 84,064,189 (GRCm39) |
Y124C |
|
Het |
Adgrf4 |
T |
C |
17: 42,978,704 (GRCm39) |
N213S |
possibly damaging |
Het |
Alg9 |
T |
A |
9: 50,717,545 (GRCm39) |
Y443N |
probably damaging |
Het |
Bhlhe22 |
A |
G |
3: 18,109,024 (GRCm39) |
T25A |
probably benign |
Het |
Bpifa1 |
C |
A |
2: 153,985,789 (GRCm39) |
P35T |
unknown |
Het |
Btbd16 |
T |
C |
7: 130,381,437 (GRCm39) |
|
probably null |
Het |
Ccdc187 |
G |
T |
2: 26,183,409 (GRCm39) |
T197K |
probably benign |
Het |
Cd209b |
A |
G |
8: 3,968,771 (GRCm39) |
V295A |
probably benign |
Het |
Cdcp3 |
C |
T |
7: 130,824,481 (GRCm39) |
S192L |
possibly damaging |
Het |
Clrn2 |
G |
T |
5: 45,617,518 (GRCm39) |
A130S |
probably benign |
Het |
Cnrip1 |
A |
G |
11: 17,004,740 (GRCm39) |
T97A |
probably damaging |
Het |
Col15a1 |
G |
C |
4: 47,288,200 (GRCm39) |
|
probably benign |
Het |
Col6a5 |
T |
C |
9: 105,758,940 (GRCm39) |
T2089A |
possibly damaging |
Het |
Cyfip1 |
T |
A |
7: 55,523,273 (GRCm39) |
|
probably null |
Het |
Ddx1 |
A |
G |
12: 13,286,119 (GRCm39) |
S278P |
probably benign |
Het |
Dnah12 |
A |
C |
14: 26,445,060 (GRCm39) |
E654D |
probably benign |
Het |
Efcab7 |
T |
C |
4: 99,735,437 (GRCm39) |
S154P |
probably damaging |
Het |
Emcn |
T |
C |
3: 137,047,029 (GRCm39) |
F10S |
probably damaging |
Het |
Fhip2a |
A |
G |
19: 57,373,756 (GRCm39) |
H672R |
probably damaging |
Het |
Flg2 |
G |
T |
3: 93,110,884 (GRCm39) |
A971S |
unknown |
Het |
Gli2 |
A |
T |
1: 118,795,791 (GRCm39) |
H121Q |
probably damaging |
Het |
Gm3633 |
A |
G |
14: 42,460,359 (GRCm39) |
|
probably benign |
Het |
Golga2 |
T |
C |
2: 32,195,822 (GRCm39) |
L846P |
probably damaging |
Het |
Golga7b |
A |
T |
19: 42,255,440 (GRCm39) |
I106F |
probably damaging |
Het |
Hltf |
T |
C |
3: 20,140,280 (GRCm39) |
S460P |
probably benign |
Het |
Hyal5 |
A |
G |
6: 24,876,403 (GRCm39) |
Y92C |
probably damaging |
Het |
Kif19b |
G |
A |
5: 140,468,257 (GRCm39) |
R649Q |
probably benign |
Het |
Mapk1 |
T |
A |
16: 16,853,549 (GRCm39) |
C84S |
probably benign |
Het |
Marchf10 |
A |
G |
11: 105,281,100 (GRCm39) |
V395A |
probably benign |
Het |
Meltf |
A |
G |
16: 31,697,763 (GRCm39) |
T7A |
probably benign |
Het |
Mfhas1 |
T |
A |
8: 36,057,730 (GRCm39) |
V735D |
probably damaging |
Het |
Mia2 |
G |
T |
12: 59,223,150 (GRCm39) |
R486L |
possibly damaging |
Het |
Mmp20 |
T |
C |
9: 7,628,327 (GRCm39) |
L25P |
probably benign |
Het |
Mprip |
C |
T |
11: 59,650,901 (GRCm39) |
T1535I |
possibly damaging |
Het |
Mrpl9 |
T |
A |
3: 94,355,126 (GRCm39) |
S233T |
possibly damaging |
Het |
Muc21 |
T |
A |
17: 35,931,838 (GRCm39) |
S783C |
unknown |
Het |
Nckap5 |
A |
C |
1: 125,942,376 (GRCm39) |
V1576G |
probably benign |
Het |
Ntng1 |
T |
C |
3: 109,841,921 (GRCm39) |
Y284C |
probably damaging |
Het |
Numa1 |
T |
A |
7: 101,650,139 (GRCm39) |
V1290D |
probably damaging |
Het |
Or52l1 |
T |
G |
7: 104,829,587 (GRCm39) |
Y326S |
probably benign |
Het |
Pcdhgc4 |
A |
T |
18: 37,950,264 (GRCm39) |
D560V |
probably damaging |
Het |
Pla2g1b |
A |
G |
5: 115,610,107 (GRCm39) |
K84E |
possibly damaging |
Het |
Pramel16 |
T |
C |
4: 143,675,750 (GRCm39) |
I359V |
probably benign |
Het |
Prrt4 |
C |
T |
6: 29,170,767 (GRCm39) |
A562T |
possibly damaging |
Het |
Rab6a |
T |
C |
7: 100,275,786 (GRCm39) |
F33S |
probably damaging |
Het |
Rgs11 |
A |
G |
17: 26,427,260 (GRCm39) |
Y397C |
probably damaging |
Het |
Rnf43 |
A |
T |
11: 87,622,111 (GRCm39) |
H277L |
probably benign |
Het |
Ryr1 |
A |
G |
7: 28,785,187 (GRCm39) |
S1842P |
possibly damaging |
Het |
Slc25a34 |
C |
T |
4: 141,350,641 (GRCm39) |
A123T |
probably damaging |
Het |
Smoc2 |
A |
G |
17: 14,556,839 (GRCm39) |
Y96C |
probably damaging |
Het |
Sqle |
A |
G |
15: 59,194,765 (GRCm39) |
E267G |
probably benign |
Het |
Sspo |
G |
A |
6: 48,440,869 (GRCm39) |
R1777H |
possibly damaging |
Het |
Stx6 |
T |
A |
1: 155,067,210 (GRCm39) |
N133K |
probably benign |
Het |
Taf7l2 |
T |
C |
10: 115,948,903 (GRCm39) |
T208A |
probably benign |
Het |
Thoc5 |
A |
T |
11: 4,864,303 (GRCm39) |
Q320L |
probably benign |
Het |
Tmc4 |
G |
C |
7: 3,670,497 (GRCm39) |
C531W |
probably damaging |
Het |
Tmigd1 |
A |
G |
11: 76,801,031 (GRCm39) |
T173A |
probably damaging |
Het |
Tpp2 |
A |
C |
1: 44,031,514 (GRCm39) |
M1111L |
probably benign |
Het |
Ulk1 |
A |
T |
5: 110,936,663 (GRCm39) |
V758E |
possibly damaging |
Het |
Vdr |
T |
A |
15: 97,767,600 (GRCm39) |
H130L |
probably benign |
Het |
Vps13b |
A |
G |
15: 35,623,892 (GRCm39) |
T1270A |
probably damaging |
Het |
Zc3h13 |
A |
G |
14: 75,560,991 (GRCm39) |
D527G |
unknown |
Het |
Zfp512 |
C |
T |
5: 31,637,434 (GRCm39) |
R508W |
probably damaging |
Het |
Zfp606 |
A |
G |
7: 12,215,026 (GRCm39) |
T85A |
unknown |
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 |
|
R9006:Ttc21a
|
UTSW |
9 |
119,792,130 (GRCm39) |
intron |
probably benign |
|
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'- AGTTAAACTCTGGGCCTTTGG -3'
(R):5'- ATCTTAAAGGGCTGAGGCTATAGC -3'
Sequencing Primer
(F):5'- CCCTAACAAGTGAACAGG -3'
(R):5'- TCCCTGGCAGAGCGTATACAC -3'
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Posted On |
2022-02-07 |