Incidental Mutation 'R8768:Ttc21a'
| ID |
664240 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Ttc21a
|
| Ensembl Gene |
ENSMUSG00000032514 |
| Gene Name |
tetratricopeptide repeat domain 21A |
| Synonyms |
Thm2, 4921538N17Rik |
| MMRRC Submission |
068623-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.168)
|
| Stock # |
R8768 (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 119770286 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Phenylalanine to Serine
at position 119
(F119S)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000035100
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000035099]
[ENSMUST00000035100]
[ENSMUST00000177637]
|
| AlphaFold |
Q8C0S4 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000035099
|
| SMART Domains |
Protein: ENSMUSP00000035099
Gene: ENSMUSG00000032513
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:GRASP55_65
|
2 |
99 |
2.6e-22 |
PFAM |
|
Pfam:GRASP55_65
|
68 |
204 |
4e-60 |
PFAM |
|
low complexity region
|
212 |
224 |
N/A |
INTRINSIC |
|
low complexity region
|
329 |
361 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000035100
AA Change: F119S
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000035100
Gene: ENSMUSG00000032514
AA Change: F119S
| 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 |
|
| Meta Mutation Damage Score |
0.3520 |
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.6%
- 20x: 98.8%
|
| Validation Efficiency |
99% (76/77) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 76 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Actr1b |
A |
T |
1: 36,740,588 (GRCm39) |
C222S |
probably benign |
Het |
| Actrt3 |
T |
G |
3: 30,651,992 (GRCm39) |
R367S |
probably damaging |
Het |
| Alg1 |
T |
C |
16: 5,060,416 (GRCm39) |
V379A |
probably damaging |
Het |
| Ankrd36 |
A |
G |
11: 5,593,763 (GRCm39) |
E456G |
probably benign |
Het |
| Arhgef33 |
G |
T |
17: 80,681,148 (GRCm39) |
A763S |
possibly damaging |
Het |
| Armc5 |
T |
G |
7: 127,841,783 (GRCm39) |
V597G |
probably benign |
Het |
| Asb10 |
G |
T |
5: 24,738,690 (GRCm39) |
R456S |
probably damaging |
Het |
| Asph |
A |
G |
4: 9,453,417 (GRCm39) |
F702L |
probably damaging |
Het |
| Atf7 |
T |
A |
15: 102,449,324 (GRCm39) |
T326S |
probably benign |
Het |
| Atxn7l2 |
T |
C |
3: 108,114,250 (GRCm39) |
N171D |
probably benign |
Het |
| BC049715 |
T |
A |
6: 136,816,979 (GRCm39) |
M73K |
possibly damaging |
Het |
| C2cd6 |
A |
G |
1: 59,105,312 (GRCm39) |
V322A |
probably benign |
Het |
| Cadps2 |
A |
C |
6: 23,382,938 (GRCm39) |
C807W |
probably damaging |
Het |
| Ccdc57 |
C |
T |
11: 120,788,788 (GRCm39) |
R353H |
probably benign |
Het |
| Ccdc89 |
T |
C |
7: 90,075,793 (GRCm39) |
M1T |
probably null |
Het |
| Cntn1 |
G |
A |
15: 92,132,347 (GRCm39) |
V148M |
probably damaging |
Het |
| Csmd3 |
T |
A |
15: 47,561,572 (GRCm39) |
I1335F |
|
Het |
| Dap3 |
A |
G |
3: 88,834,334 (GRCm39) |
M294T |
probably damaging |
Het |
| Dbh |
A |
G |
2: 27,060,328 (GRCm39) |
D168G |
probably benign |
Het |
| Dchs2 |
C |
A |
3: 83,253,592 (GRCm39) |
A2334E |
probably benign |
Het |
| Dcun1d4 |
T |
A |
5: 73,678,310 (GRCm39) |
Y102N |
probably benign |
Het |
| Dhtkd1 |
T |
C |
2: 5,903,533 (GRCm39) |
T918A |
probably benign |
Het |
| Dmgdh |
C |
T |
13: 93,825,118 (GRCm39) |
T147I |
possibly damaging |
Het |
| Dmxl2 |
T |
G |
9: 54,301,105 (GRCm39) |
K2335N |
possibly damaging |
Het |
| Efna5 |
T |
C |
17: 63,188,125 (GRCm39) |
M1V |
probably null |
Het |
| Fpr-rs3 |
T |
C |
17: 20,844,944 (GRCm39) |
N66D |
probably damaging |
Het |
| Gas2l2 |
C |
A |
11: 83,313,999 (GRCm39) |
A438S |
probably benign |
Het |
| Hivep3 |
T |
C |
4: 119,989,521 (GRCm39) |
S1991P |
probably damaging |
Het |
| Hsp90b1 |
A |
T |
10: 86,541,169 (GRCm39) |
|
probably null |
Het |
| Iars1 |
T |
A |
13: 49,878,102 (GRCm39) |
N875K |
probably damaging |
Het |
| Jag1 |
A |
C |
2: 136,943,521 (GRCm39) |
M225R |
possibly damaging |
Het |
| Jag1 |
T |
C |
2: 136,932,708 (GRCm39) |
|
probably benign |
Het |
| Kcnn2 |
C |
T |
18: 45,692,502 (GRCm39) |
S26L |
possibly damaging |
Het |
| Kctd2 |
T |
C |
11: 115,311,279 (GRCm39) |
S96P |
probably damaging |
Het |
| Klhl25 |
A |
G |
7: 75,516,359 (GRCm39) |
N422D |
probably damaging |
Het |
| Lhx8 |
A |
T |
3: 154,027,886 (GRCm39) |
V222E |
possibly damaging |
Het |
| Lrig1 |
A |
T |
6: 94,631,840 (GRCm39) |
V120D |
possibly damaging |
Het |
| Manba |
T |
A |
3: 135,256,995 (GRCm39) |
S553T |
probably damaging |
Het |
| Mllt10 |
T |
A |
2: 18,167,583 (GRCm39) |
S503T |
probably damaging |
Het |
| Nxpe4 |
A |
G |
9: 48,304,050 (GRCm39) |
N46D |
probably benign |
Het |
| Or1l4b |
C |
T |
2: 37,037,016 (GRCm39) |
S264L |
probably benign |
Het |
| Or8b50 |
A |
C |
9: 38,518,441 (GRCm39) |
K227Q |
probably benign |
Het |
| Pdzd2 |
C |
T |
15: 12,437,252 (GRCm39) |
E450K |
probably damaging |
Het |
| Phrf1 |
T |
A |
7: 140,838,651 (GRCm39) |
F615L |
unknown |
Het |
| Plch2 |
C |
A |
4: 155,083,324 (GRCm39) |
G538V |
probably damaging |
Het |
| Ppp2r2d |
T |
A |
7: 138,475,897 (GRCm39) |
I235N |
probably damaging |
Het |
| Prdm15 |
A |
T |
16: 97,638,888 (GRCm39) |
D57E |
probably benign |
Het |
| Psd3 |
T |
C |
8: 68,417,003 (GRCm39) |
D45G |
probably damaging |
Het |
| Ptger4 |
T |
A |
15: 5,272,138 (GRCm39) |
R185S |
probably benign |
Het |
| Ptp4a2 |
T |
A |
4: 129,740,299 (GRCm39) |
M121K |
probably damaging |
Het |
| Ptpre |
T |
G |
7: 135,283,306 (GRCm39) |
F659V |
possibly damaging |
Het |
| Rad54l2 |
T |
G |
9: 106,596,809 (GRCm39) |
D199A |
probably benign |
Het |
| Rap1gds1 |
T |
C |
3: 138,647,521 (GRCm39) |
M556V |
probably benign |
Het |
| Scaf8 |
T |
C |
17: 3,243,349 (GRCm39) |
V711A |
probably benign |
Het |
| Sesn3 |
G |
A |
9: 14,225,964 (GRCm39) |
C233Y |
probably damaging |
Het |
| Slc45a1 |
T |
A |
4: 150,714,206 (GRCm39) |
I680F |
probably damaging |
Het |
| Slco1a6 |
C |
T |
6: 142,078,897 (GRCm39) |
V133M |
probably benign |
Het |
| Syt6 |
T |
C |
3: 103,492,850 (GRCm39) |
L119P |
probably benign |
Het |
| Szt2 |
A |
C |
4: 118,226,613 (GRCm39) |
S2974R |
unknown |
Het |
| Taok1 |
A |
T |
11: 77,444,712 (GRCm39) |
H454Q |
probably damaging |
Het |
| Tbx10 |
G |
A |
19: 4,047,303 (GRCm39) |
V136M |
probably damaging |
Het |
| Tespa1 |
A |
G |
10: 130,198,027 (GRCm39) |
T350A |
probably benign |
Het |
| Tnks1bp1 |
T |
A |
2: 84,900,980 (GRCm39) |
Y1562* |
probably null |
Het |
| Trank1 |
T |
A |
9: 111,218,344 (GRCm39) |
F1908Y |
probably benign |
Het |
| Trav6d-4 |
A |
T |
14: 52,991,243 (GRCm39) |
H96L |
possibly damaging |
Het |
| Tspoap1 |
T |
C |
11: 87,669,197 (GRCm39) |
I1490T |
probably benign |
Het |
| Ttll3 |
T |
G |
6: 113,385,949 (GRCm39) |
M594R |
probably damaging |
Het |
| Ttn |
T |
A |
2: 76,798,790 (GRCm39) |
R495* |
probably null |
Het |
| Twf1 |
A |
C |
15: 94,479,110 (GRCm39) |
L250V |
probably damaging |
Het |
| Ubr4 |
A |
T |
4: 139,149,076 (GRCm39) |
E458D |
|
Het |
| Unc50 |
T |
C |
1: 37,476,244 (GRCm39) |
F135L |
probably benign |
Het |
| Vwa3a |
T |
A |
7: 120,375,299 (GRCm39) |
I371N |
probably damaging |
Het |
| Zfp180 |
T |
C |
7: 23,805,161 (GRCm39) |
S527P |
probably damaging |
Het |
| Zfp512 |
T |
A |
5: 31,630,882 (GRCm39) |
I408N |
probably damaging |
Het |
| Zfp57 |
A |
G |
17: 37,317,077 (GRCm39) |
T52A |
probably benign |
Het |
| Zranb2 |
A |
G |
3: 157,247,327 (GRCm39) |
|
probably benign |
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 |
|
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'- TGCAGAGAGGGTACAATGCATC -3'
(R):5'- TCATTTAGACCTGCCTGTGC -3'
Sequencing Primer
(F):5'- TGCATCAGAAGAGGACATCCGC -3'
(R):5'- GAGACAGCATTTTTCTGTGTAGCCC -3'
|
| Posted On |
2021-03-08 |
Incidental Mutation