Incidental Mutation 'R0605:Ttc21a'
| ID |
55660 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Ttc21a
|
| Ensembl Gene |
ENSMUSG00000032514 |
| Gene Name |
tetratricopeptide repeat domain 21A |
| Synonyms |
Thm2, 4921538N17Rik |
| MMRRC Submission |
038794-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.187)
|
| Stock # |
R0605 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
9 |
| Chromosomal Location |
119766672-119796859 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 119790908 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Valine
at position 885
(I885V)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000035100
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000035100]
[ENSMUST00000177637]
|
| AlphaFold |
Q8C0S4 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000035100
AA Change: I885V
PolyPhen 2
Score 0.929 (Sensitivity: 0.81; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000035100
Gene: ENSMUSG00000032514
AA Change: I885V
| 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 |
noncoding transcript
Transcript: ENSMUST00000159128
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000160790
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000161967
|
| 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 |
0.1195 |
| Coding Region Coverage |
- 1x: 99.4%
- 3x: 98.9%
- 10x: 97.6%
- 20x: 95.4%
|
| Validation Efficiency |
100% (85/85) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 84 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4933406P04Rik |
G |
A |
10: 20,186,973 (GRCm39) |
|
probably benign |
Het |
| Adam28 |
A |
T |
14: 68,844,049 (GRCm39) |
|
probably benign |
Het |
| Adamts3 |
A |
G |
5: 90,009,334 (GRCm39) |
W110R |
possibly damaging |
Het |
| Add1 |
T |
C |
5: 34,771,568 (GRCm39) |
V342A |
possibly damaging |
Het |
| Aff3 |
A |
G |
1: 38,249,068 (GRCm39) |
S680P |
probably damaging |
Het |
| Ak9 |
T |
C |
10: 41,221,135 (GRCm39) |
Y322H |
probably damaging |
Het |
| Als2 |
A |
G |
1: 59,207,573 (GRCm39) |
L1528S |
probably benign |
Het |
| Ass1 |
A |
T |
2: 31,404,831 (GRCm39) |
N371Y |
probably damaging |
Het |
| Atp6v1a |
A |
C |
16: 43,931,859 (GRCm39) |
|
probably null |
Het |
| Bpi |
T |
C |
2: 158,103,314 (GRCm39) |
L103P |
probably damaging |
Het |
| Cd80 |
G |
A |
16: 38,303,056 (GRCm39) |
V168I |
probably benign |
Het |
| Cfh |
T |
C |
1: 140,030,096 (GRCm39) |
S926G |
probably damaging |
Het |
| Chrd |
A |
T |
16: 20,554,189 (GRCm39) |
T304S |
probably damaging |
Het |
| Chsy3 |
A |
G |
18: 59,542,125 (GRCm39) |
Y421C |
probably damaging |
Het |
| Cmbl |
T |
G |
15: 31,585,455 (GRCm39) |
V101G |
probably damaging |
Het |
| Colgalt2 |
T |
A |
1: 152,371,543 (GRCm39) |
|
probably benign |
Het |
| Coq4 |
C |
T |
2: 29,680,010 (GRCm39) |
Q101* |
probably null |
Het |
| Cr2 |
T |
C |
1: 194,845,904 (GRCm39) |
|
probably benign |
Het |
| Cry1 |
T |
C |
10: 85,020,223 (GRCm39) |
D38G |
probably damaging |
Het |
| Dmxl2 |
T |
C |
9: 54,327,229 (GRCm39) |
D758G |
probably benign |
Het |
| Epsti1 |
C |
T |
14: 78,164,677 (GRCm39) |
|
probably benign |
Het |
| Fam24b |
T |
C |
7: 130,928,915 (GRCm39) |
|
probably benign |
Het |
| Fem1c |
G |
A |
18: 46,638,227 (GRCm39) |
R592C |
probably benign |
Het |
| Foxred1 |
T |
C |
9: 35,116,178 (GRCm39) |
Y490C |
possibly damaging |
Het |
| Gm9875 |
A |
G |
2: 13,562,699 (GRCm39) |
K9R |
unknown |
Het |
| Grid2ip |
T |
C |
5: 143,365,117 (GRCm39) |
S322P |
probably damaging |
Het |
| Gucy1b2 |
A |
G |
14: 62,640,608 (GRCm39) |
|
probably benign |
Het |
| Hmcn1 |
A |
T |
1: 150,533,127 (GRCm39) |
|
probably null |
Het |
| Hpdl |
C |
T |
4: 116,677,984 (GRCm39) |
S159N |
possibly damaging |
Het |
| Hsd17b12 |
A |
T |
2: 93,863,987 (GRCm39) |
M285K |
probably benign |
Het |
| Icam5 |
T |
C |
9: 20,943,493 (GRCm39) |
I23T |
probably benign |
Het |
| Kat5 |
A |
G |
19: 5,658,364 (GRCm39) |
|
probably benign |
Het |
| Lama3 |
A |
G |
18: 12,640,006 (GRCm39) |
N67S |
probably benign |
Het |
| Lamb2 |
T |
C |
9: 108,363,304 (GRCm39) |
|
probably benign |
Het |
| Lgals3bp |
A |
G |
11: 118,284,220 (GRCm39) |
F453S |
probably damaging |
Het |
| Lypd4 |
A |
G |
7: 24,564,800 (GRCm39) |
Y113H |
probably damaging |
Het |
| Mdm1 |
C |
T |
10: 117,982,506 (GRCm39) |
T47M |
probably damaging |
Het |
| Mei1 |
C |
A |
15: 81,954,351 (GRCm39) |
T52K |
probably benign |
Het |
| Meiob |
G |
A |
17: 25,037,236 (GRCm39) |
|
probably benign |
Het |
| Ndufaf6 |
A |
G |
4: 11,051,224 (GRCm39) |
V292A |
probably damaging |
Het |
| Neb |
T |
A |
2: 52,154,038 (GRCm39) |
M2358L |
possibly damaging |
Het |
| Nlrp1b |
A |
G |
11: 71,047,005 (GRCm39) |
S1119P |
possibly damaging |
Het |
| Nsmaf |
A |
G |
4: 6,418,470 (GRCm39) |
|
probably null |
Het |
| Ogfod1 |
T |
C |
8: 94,773,895 (GRCm39) |
|
probably benign |
Het |
| Or5ae2 |
T |
C |
7: 84,506,345 (GRCm39) |
I256T |
probably damaging |
Het |
| Or8h7 |
T |
C |
2: 86,720,763 (GRCm39) |
Y252C |
possibly damaging |
Het |
| Or9s14 |
G |
T |
1: 92,535,618 (GRCm39) |
V20L |
probably benign |
Het |
| Osbpl1a |
T |
A |
18: 13,015,336 (GRCm39) |
|
probably null |
Het |
| Otud7b |
T |
A |
3: 96,052,270 (GRCm39) |
|
probably benign |
Het |
| P3h3 |
T |
A |
6: 124,832,998 (GRCm39) |
H185L |
probably damaging |
Het |
| P4htm |
G |
A |
9: 108,460,923 (GRCm39) |
A183V |
probably null |
Het |
| Peak1 |
C |
T |
9: 56,134,382 (GRCm39) |
|
probably benign |
Het |
| Phf20l1 |
A |
G |
15: 66,466,971 (GRCm39) |
K88R |
probably damaging |
Het |
| Phlpp2 |
A |
G |
8: 110,659,843 (GRCm39) |
N721S |
probably benign |
Het |
| Plagl2 |
T |
C |
2: 153,077,864 (GRCm39) |
K39R |
probably benign |
Het |
| Plppr1 |
A |
T |
4: 49,323,466 (GRCm39) |
N252I |
probably damaging |
Het |
| Pom121l2 |
C |
T |
13: 22,166,206 (GRCm39) |
A159V |
probably damaging |
Het |
| Prom2 |
C |
A |
2: 127,381,915 (GRCm39) |
|
probably null |
Het |
| Prrc2c |
T |
C |
1: 162,509,995 (GRCm39) |
T1017A |
probably damaging |
Het |
| Rimbp3 |
G |
T |
16: 17,029,563 (GRCm39) |
A996S |
probably damaging |
Het |
| Rnf213 |
A |
G |
11: 119,322,543 (GRCm39) |
T1387A |
probably benign |
Het |
| Scaper |
A |
T |
9: 55,722,802 (GRCm39) |
|
probably benign |
Het |
| Scara5 |
A |
G |
14: 65,997,097 (GRCm39) |
E403G |
possibly damaging |
Het |
| Scrib |
T |
C |
15: 75,939,402 (GRCm39) |
I94V |
possibly damaging |
Het |
| Shank3 |
T |
C |
15: 89,408,350 (GRCm39) |
F67L |
possibly damaging |
Het |
| Shprh |
T |
C |
10: 11,082,856 (GRCm39) |
F1562L |
probably damaging |
Het |
| Src |
C |
T |
2: 157,311,841 (GRCm39) |
T529M |
probably damaging |
Het |
| Sycp2l |
T |
A |
13: 41,296,942 (GRCm39) |
M341K |
probably benign |
Het |
| Syde1 |
T |
C |
10: 78,424,929 (GRCm39) |
|
probably benign |
Het |
| Tars3 |
A |
T |
7: 65,327,819 (GRCm39) |
R509S |
probably damaging |
Het |
| Tle6 |
T |
A |
10: 81,430,180 (GRCm39) |
H324L |
probably damaging |
Het |
| Tnfaip8 |
ACTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTC |
ACTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTC |
18: 50,179,912 (GRCm39) |
|
probably benign |
Het |
| Tnfrsf14 |
T |
A |
4: 155,009,837 (GRCm39) |
K115* |
probably null |
Het |
| Trappc10 |
T |
C |
10: 78,037,331 (GRCm39) |
N824S |
possibly damaging |
Het |
| Tsc1 |
C |
T |
2: 28,561,790 (GRCm39) |
S309F |
probably damaging |
Het |
| Ttn |
C |
T |
2: 76,570,797 (GRCm39) |
A26699T |
probably damaging |
Het |
| Ttn |
T |
C |
2: 76,778,715 (GRCm39) |
Y1262C |
unknown |
Het |
| Usp49 |
T |
C |
17: 47,985,851 (GRCm39) |
|
probably null |
Het |
| Vmn1r226 |
A |
T |
17: 20,908,133 (GRCm39) |
T122S |
probably benign |
Het |
| Vps8 |
A |
T |
16: 21,378,087 (GRCm39) |
T1033S |
probably benign |
Het |
| Vwf |
C |
A |
6: 125,662,800 (GRCm39) |
T2728K |
probably benign |
Het |
| Wdr5b |
T |
C |
16: 35,862,366 (GRCm39) |
S162P |
probably benign |
Het |
| Xrn1 |
C |
T |
9: 95,908,930 (GRCm39) |
Q1235* |
probably null |
Het |
| Zfp1005 |
A |
G |
2: 150,110,523 (GRCm39) |
I404M |
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 |
|
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 |
|
|
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'- AGCCCTGGAACACTGGAAATGC -3'
(R):5'- AAGAACTGTGGTAGCTGAGGACCC -3'
Sequencing Primer
(F):5'- ACTGGAAATGCCTGTGCTC -3'
(R):5'- cacccccaaactcctgac -3'
|
| Posted On |
2013-07-11 |
Incidental Mutation