Incidental Mutation 'R3938:Ttc21a'
ID |
307284 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Ttc21a
|
Ensembl Gene |
ENSMUSG00000032514 |
Gene Name |
tetratricopeptide repeat domain 21A |
Synonyms |
Thm2, 4921538N17Rik |
MMRRC Submission |
040825-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.187)
|
Stock # |
R3938 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
9 |
Chromosomal Location |
119766672-119796859 bp(+) (GRCm39) |
Type of Mutation |
intron |
DNA Base Change (assembly) |
A to G
at 119779882 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 |
noncoding transcript
Transcript: ENSMUST00000159128
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000160790
|
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: 99.3%
- 3x: 98.7%
- 10x: 97.3%
- 20x: 95.1%
|
Validation Efficiency |
98% (57/58) |
Allele List at MGI |
|
Other mutations in this stock |
Total: 57 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Adamts1 |
C |
T |
16: 85,592,507 (GRCm39) |
V634M |
possibly damaging |
Het |
Arid4b |
A |
T |
13: 14,361,513 (GRCm39) |
N659I |
probably benign |
Het |
BC049715 |
T |
C |
6: 136,817,453 (GRCm39) |
I231T |
possibly damaging |
Het |
Bmp4 |
T |
C |
14: 46,621,536 (GRCm39) |
Y336C |
probably damaging |
Het |
Ccdc30 |
G |
A |
4: 119,209,870 (GRCm39) |
T293I |
probably benign |
Het |
Chd5 |
A |
T |
4: 152,461,512 (GRCm39) |
T1275S |
probably benign |
Het |
Chtf8 |
A |
T |
8: 107,612,537 (GRCm39) |
M134K |
probably benign |
Het |
Col11a2 |
A |
T |
17: 34,258,599 (GRCm39) |
|
probably benign |
Het |
Cyp8b1 |
A |
G |
9: 121,744,684 (GRCm39) |
V216A |
probably benign |
Het |
Dnah8 |
C |
T |
17: 31,073,911 (GRCm39) |
T4527M |
probably damaging |
Het |
Elavl3 |
A |
G |
9: 21,930,040 (GRCm39) |
V288A |
probably damaging |
Het |
Erap1 |
T |
A |
13: 74,816,147 (GRCm39) |
L92Q |
probably damaging |
Het |
Exoc3l |
G |
T |
8: 106,020,037 (GRCm39) |
P296H |
probably damaging |
Het |
Fcgbpl1 |
C |
T |
7: 27,853,719 (GRCm39) |
P1561L |
probably damaging |
Het |
Foxl3 |
A |
T |
5: 138,806,723 (GRCm39) |
N78Y |
probably damaging |
Het |
Hacl1 |
T |
C |
14: 31,356,148 (GRCm39) |
|
probably benign |
Het |
Hrnr |
T |
A |
3: 93,230,162 (GRCm39) |
N133K |
probably benign |
Het |
Itgax |
G |
T |
7: 127,735,445 (GRCm39) |
R504S |
possibly damaging |
Het |
Itgb4 |
A |
G |
11: 115,896,752 (GRCm39) |
S1461G |
possibly damaging |
Het |
Klkb1 |
G |
T |
8: 45,735,838 (GRCm39) |
T175K |
probably damaging |
Het |
Lrrk2 |
A |
T |
15: 91,596,983 (GRCm39) |
D525V |
possibly damaging |
Het |
Lrrk2 |
C |
A |
15: 91,662,707 (GRCm39) |
T1912K |
probably damaging |
Het |
Mdga1 |
G |
T |
17: 30,076,596 (GRCm39) |
Q59K |
probably damaging |
Het |
Mpp4 |
A |
G |
1: 59,163,842 (GRCm39) |
V466A |
possibly damaging |
Het |
Myh6 |
T |
C |
14: 55,200,512 (GRCm39) |
D203G |
probably benign |
Het |
Myo5b |
T |
C |
18: 74,849,108 (GRCm39) |
S1116P |
probably damaging |
Het |
Nemp1 |
T |
C |
10: 127,531,342 (GRCm39) |
L311P |
probably damaging |
Het |
Nup205 |
A |
G |
6: 35,196,677 (GRCm39) |
R1138G |
probably damaging |
Het |
Nup54 |
A |
G |
5: 92,565,388 (GRCm39) |
M443T |
probably damaging |
Het |
Peak1 |
T |
C |
9: 56,167,649 (GRCm39) |
E93G |
probably benign |
Het |
Pirb |
A |
T |
7: 3,720,637 (GRCm39) |
L287Q |
probably benign |
Het |
Plekhj1 |
A |
G |
10: 80,633,609 (GRCm39) |
I76T |
probably damaging |
Het |
Poll |
A |
G |
19: 45,546,857 (GRCm39) |
|
probably benign |
Het |
Ppp1r3a |
A |
T |
6: 14,719,073 (GRCm39) |
S614T |
probably damaging |
Het |
Pygm |
A |
T |
19: 6,442,980 (GRCm39) |
I556F |
probably benign |
Het |
Ranbp2 |
T |
C |
10: 58,312,294 (GRCm39) |
F1005L |
probably benign |
Het |
Rcor3 |
G |
T |
1: 191,785,385 (GRCm39) |
T361K |
possibly damaging |
Het |
Robo4 |
A |
G |
9: 37,313,313 (GRCm39) |
|
probably benign |
Het |
Rps15 |
T |
C |
10: 80,129,673 (GRCm39) |
V96A |
probably benign |
Het |
Rrm2 |
T |
A |
12: 24,759,431 (GRCm39) |
N55K |
probably damaging |
Het |
Shank2 |
T |
C |
7: 143,682,112 (GRCm39) |
Y382H |
probably benign |
Het |
Slc25a10 |
G |
T |
11: 120,382,819 (GRCm39) |
E3* |
probably null |
Het |
Slc7a8 |
T |
A |
14: 54,973,298 (GRCm39) |
E223V |
probably benign |
Het |
Snx13 |
A |
G |
12: 35,194,096 (GRCm39) |
K880E |
probably benign |
Het |
Spinkl |
T |
G |
18: 44,301,216 (GRCm39) |
M41L |
probably benign |
Het |
Srp54a |
A |
C |
12: 55,136,042 (GRCm39) |
N19T |
probably benign |
Het |
Sun2 |
T |
C |
15: 79,618,356 (GRCm39) |
K268E |
probably benign |
Het |
Sytl1 |
G |
A |
4: 132,982,935 (GRCm39) |
Q359* |
probably null |
Het |
Tlr6 |
A |
T |
5: 65,110,938 (GRCm39) |
F656L |
probably damaging |
Het |
Tmem185a |
C |
T |
X: 69,505,792 (GRCm39) |
|
probably null |
Het |
Tmem45a2 |
C |
T |
16: 56,859,398 (GRCm39) |
D278N |
probably benign |
Het |
Trav7-1 |
T |
C |
14: 52,892,791 (GRCm39) |
|
probably benign |
Het |
Trpc2 |
T |
A |
7: 101,742,781 (GRCm39) |
M597K |
probably damaging |
Het |
Usp9y |
C |
T |
Y: 1,313,741 (GRCm39) |
M2188I |
probably damaging |
Het |
Utrn |
C |
A |
10: 12,625,774 (GRCm39) |
|
probably null |
Het |
Vmn1r35 |
T |
A |
6: 66,656,057 (GRCm39) |
R204S |
probably damaging |
Het |
Zfp955b |
T |
A |
17: 33,524,390 (GRCm39) |
Y59F |
probably 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 |
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'- CATCTATAGGGAGCATCTGGTG -3'
(R):5'- ATACTCCTTGGCGATGCAGAC -3'
Sequencing Primer
(F):5'- TCTGGTGCCAGATCCTACAG -3'
(R):5'- CTTGGCGATGCAGACCAGAAAG -3'
|
Posted On |
2015-04-17 |