Incidental Mutation 'R7170:Ttc21a'
| ID |
558200 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Ttc21a
|
| Ensembl Gene |
ENSMUSG00000032514 |
| Gene Name |
tetratricopeptide repeat domain 21A |
| Synonyms |
Thm2, 4921538N17Rik |
| MMRRC Submission |
045332-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.187)
|
| Stock # |
R7170 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
9 |
| Chromosomal Location |
119766672-119796859 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to T
at 119774607 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Proline to Leucine
at position 287
(P287L)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000035100
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000035100]
[ENSMUST00000177637]
|
| AlphaFold |
Q8C0S4 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000035100
AA Change: P287L
PolyPhen 2
Score 0.988 (Sensitivity: 0.73; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000035100
Gene: ENSMUSG00000032514
AA Change: P287L
| 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: 99.9%
- 10x: 99.7%
- 20x: 99.0%
|
| Validation Efficiency |
100% (81/81) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 79 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca8b |
T |
C |
11: 109,836,654 (GRCm39) |
T1214A |
probably benign |
Het |
| Acte1 |
T |
C |
7: 143,450,102 (GRCm39) |
S285P |
probably damaging |
Het |
| Adgrf5 |
G |
A |
17: 43,757,029 (GRCm39) |
V708M |
possibly damaging |
Het |
| Akap9 |
C |
G |
5: 4,018,745 (GRCm39) |
H1109D |
probably benign |
Het |
| Ankrd7 |
T |
A |
6: 18,868,389 (GRCm39) |
Y170* |
probably null |
Het |
| Aplp2 |
T |
C |
9: 31,081,739 (GRCm39) |
D236G |
probably benign |
Het |
| Apoa5 |
T |
C |
9: 46,181,437 (GRCm39) |
M171T |
probably benign |
Het |
| Bcas3 |
T |
C |
11: 85,386,744 (GRCm39) |
V393A |
probably damaging |
Het |
| Ccdc47 |
T |
C |
11: 106,093,304 (GRCm39) |
N370S |
probably benign |
Het |
| Cfap77 |
A |
T |
2: 28,875,854 (GRCm39) |
Y85* |
probably null |
Het |
| Col4a3 |
G |
A |
1: 82,693,630 (GRCm39) |
|
probably null |
Het |
| Crnn |
T |
A |
3: 93,056,020 (GRCm39) |
S269T |
possibly damaging |
Het |
| Crocc2 |
G |
A |
1: 93,121,704 (GRCm39) |
A618T |
possibly damaging |
Het |
| D030056L22Rik |
A |
G |
19: 18,690,737 (GRCm39) |
K17R |
possibly damaging |
Het |
| Emx1 |
G |
A |
6: 85,164,983 (GRCm39) |
G20D |
probably benign |
Het |
| Fabp3 |
A |
G |
4: 130,207,763 (GRCm39) |
D88G |
probably benign |
Het |
| Fam124a |
A |
C |
14: 62,824,629 (GRCm39) |
D41A |
probably damaging |
Het |
| Fanca |
T |
C |
8: 123,997,945 (GRCm39) |
E1247G |
probably damaging |
Het |
| Fat3 |
T |
C |
9: 15,917,870 (GRCm39) |
R1518G |
probably damaging |
Het |
| Fgf12 |
T |
C |
16: 28,263,931 (GRCm39) |
I5V |
probably benign |
Het |
| Fscn2 |
C |
A |
11: 120,253,335 (GRCm39) |
N267K |
probably damaging |
Het |
| Ftdc1 |
G |
T |
16: 58,436,091 (GRCm39) |
C77* |
probably null |
Het |
| Fubp3 |
A |
G |
2: 31,488,632 (GRCm39) |
T163A |
probably benign |
Het |
| Gask1a |
G |
T |
9: 121,807,301 (GRCm39) |
A482S |
probably damaging |
Het |
| Gne |
A |
G |
4: 44,040,361 (GRCm39) |
L601P |
possibly damaging |
Het |
| Gphn |
T |
C |
12: 78,730,663 (GRCm39) |
V766A |
possibly damaging |
Het |
| Hsf1 |
G |
T |
15: 76,384,221 (GRCm39) |
G402C |
probably damaging |
Het |
| Ift81 |
A |
T |
5: 122,693,596 (GRCm39) |
Y604* |
probably null |
Het |
| Iqgap3 |
T |
A |
3: 88,009,370 (GRCm39) |
I768N |
probably damaging |
Het |
| Kazald1 |
A |
T |
19: 45,066,855 (GRCm39) |
D218V |
probably benign |
Het |
| Kmt2a |
T |
C |
9: 44,722,018 (GRCm39) |
N3776D |
unknown |
Het |
| Ktn1 |
T |
C |
14: 47,943,867 (GRCm39) |
L872S |
probably damaging |
Het |
| Lama3 |
T |
G |
18: 12,537,133 (GRCm39) |
F259L |
probably benign |
Het |
| Mfsd6 |
A |
G |
1: 52,701,547 (GRCm39) |
|
probably null |
Het |
| Mical3 |
A |
T |
6: 120,950,694 (GRCm39) |
|
probably null |
Het |
| Mob3b |
A |
G |
4: 35,083,839 (GRCm39) |
Y117H |
probably damaging |
Het |
| Mrpl2 |
G |
A |
17: 46,959,181 (GRCm39) |
G95D |
probably damaging |
Het |
| Mstn |
A |
T |
1: 53,105,554 (GRCm39) |
I299F |
probably damaging |
Het |
| Mta3 |
C |
T |
17: 84,022,091 (GRCm39) |
R49W |
probably damaging |
Het |
| Mylk3 |
A |
G |
8: 86,077,114 (GRCm39) |
F574L |
probably damaging |
Het |
| Naca |
T |
A |
10: 127,875,990 (GRCm39) |
S341T |
unknown |
Het |
| Ncoa1 |
T |
C |
12: 4,299,722 (GRCm39) |
D1401G |
probably benign |
Het |
| Nedd4 |
T |
A |
9: 72,577,381 (GRCm39) |
Y69N |
probably benign |
Het |
| Nin |
T |
C |
12: 70,091,013 (GRCm39) |
T801A |
|
Het |
| Nsd1 |
T |
A |
13: 55,409,439 (GRCm39) |
L1336* |
probably null |
Het |
| Nudt16l2 |
C |
A |
9: 105,020,600 (GRCm39) |
|
probably null |
Het |
| Oprk1 |
G |
A |
1: 5,672,619 (GRCm39) |
R252H |
probably damaging |
Het |
| Or4c10b |
A |
T |
2: 89,711,397 (GRCm39) |
T76S |
possibly damaging |
Het |
| Or4c10b |
A |
G |
2: 89,711,185 (GRCm39) |
N5S |
probably benign |
Het |
| Or5w15 |
C |
T |
2: 87,568,056 (GRCm39) |
G204D |
probably damaging |
Het |
| Pcdhga11 |
T |
C |
18: 37,889,717 (GRCm39) |
F242L |
probably damaging |
Het |
| Pof1b |
A |
G |
X: 111,554,042 (GRCm39) |
I544T |
probably benign |
Het |
| Pold1 |
T |
C |
7: 44,191,572 (GRCm39) |
H138R |
possibly damaging |
Het |
| Ptprd |
A |
T |
4: 75,990,199 (GRCm39) |
D504E |
probably benign |
Het |
| Rabgap1l |
A |
G |
1: 160,472,935 (GRCm39) |
V501A |
probably damaging |
Het |
| Rimklb |
T |
C |
6: 122,429,697 (GRCm39) |
N233S |
probably benign |
Het |
| Rnf213 |
A |
G |
11: 119,343,401 (GRCm39) |
I3589V |
|
Het |
| Rora |
T |
A |
9: 69,280,472 (GRCm39) |
C348* |
probably null |
Het |
| Sdhaf3 |
T |
C |
6: 6,956,043 (GRCm39) |
V6A |
probably benign |
Het |
| Serpina3m |
T |
A |
12: 104,355,777 (GRCm39) |
L148Q |
probably damaging |
Het |
| Sik1 |
T |
C |
17: 32,067,746 (GRCm39) |
D443G |
possibly damaging |
Het |
| Sim2 |
A |
G |
16: 93,923,559 (GRCm39) |
T366A |
probably benign |
Het |
| Slc32a1 |
T |
C |
2: 158,453,243 (GRCm39) |
F28L |
probably damaging |
Het |
| Sorbs1 |
A |
T |
19: 40,314,573 (GRCm39) |
Y746* |
probably null |
Het |
| Speer4b |
T |
A |
5: 27,703,821 (GRCm39) |
N106I |
possibly damaging |
Het |
| Sphkap |
A |
G |
1: 83,243,706 (GRCm39) |
S1269P |
probably damaging |
Het |
| Tcf4 |
T |
C |
18: 69,766,649 (GRCm39) |
V205A |
probably damaging |
Het |
| Thsd7a |
C |
T |
6: 12,352,090 (GRCm39) |
R1035H |
|
Het |
| Tmprss11c |
A |
T |
5: 86,385,478 (GRCm39) |
|
probably null |
Het |
| Trim50 |
A |
G |
5: 135,396,365 (GRCm39) |
T438A |
probably benign |
Het |
| Ttc41 |
C |
T |
10: 86,549,367 (GRCm39) |
S187L |
probably benign |
Het |
| Ttll3 |
C |
T |
6: 113,390,839 (GRCm39) |
P807L |
probably benign |
Het |
| Ttn |
A |
C |
2: 76,597,696 (GRCm39) |
V19739G |
probably benign |
Het |
| Usp15 |
C |
A |
10: 123,007,100 (GRCm39) |
C127F |
probably damaging |
Het |
| Vmn2r100 |
G |
T |
17: 19,752,233 (GRCm39) |
A822S |
probably benign |
Het |
| Zan |
A |
T |
5: 137,461,756 (GRCm39) |
V1141D |
unknown |
Het |
| Zfp457 |
A |
T |
13: 67,442,241 (GRCm39) |
C111* |
probably null |
Het |
| Zfp758 |
C |
T |
17: 22,594,116 (GRCm39) |
Q201* |
probably null |
Het |
| Zkscan2 |
T |
C |
7: 123,099,030 (GRCm39) |
E54G |
possibly damaging |
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 |
|
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 |
|
|
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'- CATCTGTAGAGCTCTGAGATGTGTC -3'
(R):5'- AACTTCCTGGTCACTGTGGC -3'
Sequencing Primer
(F):5'- AGCTCTGAGATGTGTCCCAGG -3'
(R):5'- TCACTGTGGCGCCTCCTAG -3'
|
| Posted On |
2019-06-26 |
Incidental Mutation