Incidental Mutation 'IGL02252:Ttc21a'
| ID |
286450 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Ttc21a
|
| Ensembl Gene |
ENSMUSG00000032514 |
| Gene Name |
tetratricopeptide repeat domain 21A |
| Synonyms |
Thm2, 4921538N17Rik |
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.187)
|
| Stock # |
IGL02252
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
9 |
| Chromosomal Location |
119766672-119796859 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 119785994 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Leucine to Proline
at position 664
(L664P)
|
| 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: L664P
PolyPhen 2
Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
|
| SMART Domains |
Protein: ENSMUSP00000035100
Gene: ENSMUSG00000032514
AA Change: L664P
| 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 |
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 65 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4933409G03Rik |
A |
G |
2: 68,444,678 (GRCm39) |
|
probably benign |
Het |
| Actl7b |
A |
T |
4: 56,741,205 (GRCm39) |
I51N |
probably damaging |
Het |
| Adamts12 |
A |
G |
15: 11,311,101 (GRCm39) |
I1119M |
probably benign |
Het |
| Apol10a |
T |
A |
15: 77,372,670 (GRCm39) |
V102D |
probably benign |
Het |
| Atrx |
T |
C |
X: 104,889,429 (GRCm39) |
E1628G |
possibly damaging |
Het |
| Btnl2 |
C |
T |
17: 34,584,364 (GRCm39) |
S429F |
possibly damaging |
Het |
| C4bp |
C |
A |
1: 130,564,524 (GRCm39) |
D387Y |
probably damaging |
Het |
| Ceacam23 |
G |
T |
7: 17,644,457 (GRCm39) |
V525F |
possibly damaging |
Het |
| Crybg3 |
G |
T |
16: 59,372,887 (GRCm39) |
|
probably benign |
Het |
| Dcaf12 |
G |
T |
4: 41,294,085 (GRCm39) |
H351N |
probably benign |
Het |
| Efcab3 |
C |
A |
11: 104,644,753 (GRCm39) |
R1114S |
possibly damaging |
Het |
| Elp1 |
G |
T |
4: 56,759,813 (GRCm39) |
Q1151K |
probably benign |
Het |
| Fign |
A |
G |
2: 63,810,983 (GRCm39) |
S96P |
probably benign |
Het |
| Ggt5 |
A |
G |
10: 75,438,566 (GRCm39) |
I96V |
possibly damaging |
Het |
| Gm3238 |
A |
G |
10: 77,606,691 (GRCm39) |
|
probably benign |
Het |
| Gm4792 |
G |
T |
10: 94,131,102 (GRCm39) |
P69Q |
unknown |
Het |
| Ighv1-58 |
A |
T |
12: 115,275,897 (GRCm39) |
N80K |
possibly damaging |
Het |
| Irgm1 |
C |
T |
11: 48,756,981 (GRCm39) |
G277S |
possibly damaging |
Het |
| Jsrp1 |
A |
G |
10: 80,644,707 (GRCm39) |
V233A |
probably benign |
Het |
| Kcp |
T |
A |
6: 29,504,548 (GRCm39) |
R85W |
probably damaging |
Het |
| Kif14 |
T |
C |
1: 136,406,130 (GRCm39) |
Y565H |
probably damaging |
Het |
| Klk1b4 |
G |
A |
7: 43,860,094 (GRCm39) |
W69* |
probably null |
Het |
| Knl1 |
A |
T |
2: 118,903,021 (GRCm39) |
Q1574L |
probably damaging |
Het |
| Lao1 |
A |
G |
4: 118,824,613 (GRCm39) |
N232D |
probably benign |
Het |
| Lipn |
A |
G |
19: 34,049,157 (GRCm39) |
I108V |
probably benign |
Het |
| Lrrc49 |
T |
A |
9: 60,595,142 (GRCm39) |
M1L |
probably benign |
Het |
| Matn2 |
G |
T |
15: 34,316,736 (GRCm39) |
R26L |
probably damaging |
Het |
| Mmp16 |
G |
A |
4: 18,110,523 (GRCm39) |
D440N |
probably damaging |
Het |
| Mn1 |
G |
A |
5: 111,569,107 (GRCm39) |
A1026T |
probably damaging |
Het |
| Mrgpra1 |
A |
T |
7: 46,984,912 (GRCm39) |
F256I |
probably benign |
Het |
| Msantd3 |
A |
C |
4: 48,560,869 (GRCm39) |
E148D |
probably benign |
Het |
| Mylk3 |
G |
T |
8: 86,082,105 (GRCm39) |
L361I |
probably benign |
Het |
| Nlrp12 |
A |
G |
7: 3,293,980 (GRCm39) |
S117P |
probably benign |
Het |
| Nsmaf |
T |
C |
4: 6,398,378 (GRCm39) |
E870G |
probably benign |
Het |
| Oplah |
T |
C |
15: 76,188,964 (GRCm39) |
T320A |
probably damaging |
Het |
| Or5p50 |
C |
A |
7: 107,422,353 (GRCm39) |
A108S |
probably benign |
Het |
| Or7g34 |
T |
A |
9: 19,478,267 (GRCm39) |
I138F |
probably damaging |
Het |
| Pard3 |
T |
G |
8: 128,125,237 (GRCm39) |
S729A |
probably benign |
Het |
| Pdzd9 |
T |
C |
7: 120,262,238 (GRCm39) |
I75V |
probably benign |
Het |
| Pgf |
A |
G |
12: 85,216,199 (GRCm39) |
|
probably benign |
Het |
| Phf1 |
T |
A |
17: 27,154,109 (GRCm39) |
V140D |
possibly damaging |
Het |
| Pkd1l3 |
T |
C |
8: 110,357,708 (GRCm39) |
S775P |
possibly damaging |
Het |
| Rhobtb1 |
A |
T |
10: 69,085,515 (GRCm39) |
T85S |
probably damaging |
Het |
| Sez6 |
T |
A |
11: 77,865,339 (GRCm39) |
Y659N |
probably damaging |
Het |
| Sfmbt1 |
T |
C |
14: 30,539,690 (GRCm39) |
L826P |
probably damaging |
Het |
| Sftpd |
T |
A |
14: 40,894,471 (GRCm39) |
D316V |
probably damaging |
Het |
| Shc2 |
T |
C |
10: 79,462,204 (GRCm39) |
D313G |
probably benign |
Het |
| Snrk |
T |
C |
9: 121,986,326 (GRCm39) |
Y232H |
probably damaging |
Het |
| Sntg1 |
G |
T |
1: 8,484,452 (GRCm39) |
P456Q |
probably benign |
Het |
| Sorbs1 |
A |
T |
19: 40,302,841 (GRCm39) |
N783K |
probably damaging |
Het |
| Stag3 |
A |
T |
5: 138,300,810 (GRCm39) |
I923F |
probably damaging |
Het |
| Tep1 |
T |
A |
14: 51,067,712 (GRCm39) |
H2168L |
possibly damaging |
Het |
| Tmem132c |
A |
T |
5: 127,539,991 (GRCm39) |
N339I |
possibly damaging |
Het |
| Trim34b |
A |
G |
7: 103,979,139 (GRCm39) |
T129A |
probably damaging |
Het |
| Ubl5 |
C |
T |
9: 20,556,923 (GRCm39) |
R56* |
probably null |
Het |
| Ubox5 |
G |
A |
2: 130,441,707 (GRCm39) |
R327W |
probably damaging |
Het |
| Ubr5 |
G |
T |
15: 38,025,138 (GRCm39) |
A546E |
probably damaging |
Het |
| Umodl1 |
T |
C |
17: 31,213,789 (GRCm39) |
|
probably null |
Het |
| Unc45a |
T |
C |
7: 79,982,717 (GRCm39) |
|
probably benign |
Het |
| Vmn1r236 |
C |
T |
17: 21,507,101 (GRCm39) |
T73I |
probably benign |
Het |
| Vmn2r67 |
T |
G |
7: 84,805,008 (GRCm39) |
N35H |
probably benign |
Het |
| Vmn2r74 |
A |
G |
7: 85,606,531 (GRCm39) |
Y272H |
probably benign |
Het |
| Wdr43 |
T |
A |
17: 71,933,845 (GRCm39) |
D147E |
probably damaging |
Het |
| Zfp352 |
A |
T |
4: 90,112,367 (GRCm39) |
D169V |
probably benign |
Het |
| Zim1 |
A |
T |
7: 6,691,627 (GRCm39) |
N15K |
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 |
|
|
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 |
|
|
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 |
|
| Posted On |
2015-04-16 |
Incidental Mutation