Incidental Mutation 'R9643:Ttc21a'
| ID |
726669 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Ttc21a
|
| Ensembl Gene |
ENSMUSG00000032514 |
| Gene Name |
tetratricopeptide repeat domain 21A |
| Synonyms |
Thm2, 4921538N17Rik |
| MMRRC Submission |
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.168)
|
| Stock # |
R9643 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
9 |
| Chromosomal Location |
119766672-119796859 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to A
at 119771686 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Isoleucine
at position 162
(V162I)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000035100
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000035100]
[ENSMUST00000177637]
|
| AlphaFold |
Q8C0S4 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000035100
AA Change: V162I
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000035100
Gene: ENSMUSG00000032514
AA Change: V162I
| 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: 99.1%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 71 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 2700049A03Rik |
A |
G |
12: 71,211,189 (GRCm39) |
D641G |
possibly damaging |
Het |
| 4921539E11Rik |
T |
C |
4: 103,092,666 (GRCm39) |
E272G |
unknown |
Het |
| Abca16 |
C |
T |
7: 120,065,023 (GRCm39) |
T560I |
possibly damaging |
Het |
| Adcy3 |
A |
G |
12: 4,259,455 (GRCm39) |
R911G |
probably damaging |
Het |
| Adgra2 |
A |
G |
8: 27,612,031 (GRCm39) |
T1327A |
possibly damaging |
Het |
| Aldh9a1 |
T |
C |
1: 167,184,904 (GRCm39) |
V272A |
possibly damaging |
Het |
| Ankfn1 |
T |
A |
11: 89,396,167 (GRCm39) |
H193L |
probably benign |
Het |
| Asb1 |
A |
G |
1: 91,480,116 (GRCm39) |
R280G |
probably benign |
Het |
| Atg14 |
G |
T |
14: 47,788,780 (GRCm39) |
A191E |
probably damaging |
Het |
| Bcl9 |
G |
T |
3: 97,112,960 (GRCm39) |
P1165Q |
possibly damaging |
Het |
| Cdk8 |
G |
A |
5: 146,235,664 (GRCm39) |
A264T |
probably damaging |
Het |
| Cep152 |
G |
A |
2: 125,406,150 (GRCm39) |
Q1461* |
probably null |
Het |
| Cep170b |
G |
T |
12: 112,704,045 (GRCm39) |
W659L |
probably damaging |
Het |
| Cep57l1 |
T |
C |
10: 41,597,626 (GRCm39) |
E335G |
probably damaging |
Het |
| Cpt1b |
T |
A |
15: 89,303,229 (GRCm39) |
T609S |
possibly damaging |
Het |
| Cyp2c50 |
A |
T |
19: 40,086,512 (GRCm39) |
I359F |
probably damaging |
Het |
| Dpf1 |
T |
A |
7: 29,013,742 (GRCm39) |
N272K |
probably damaging |
Het |
| Fsip2 |
A |
G |
2: 82,821,984 (GRCm39) |
T5906A |
possibly damaging |
Het |
| Gin1 |
A |
T |
1: 97,712,498 (GRCm39) |
R220S |
probably benign |
Het |
| Gm30083 |
T |
C |
14: 33,736,861 (GRCm39) |
Y32C |
probably benign |
Het |
| Gm45861 |
A |
G |
8: 27,994,083 (GRCm39) |
E445G |
unknown |
Het |
| Golga2 |
T |
C |
2: 32,193,874 (GRCm39) |
S567P |
probably damaging |
Het |
| Gpr89 |
A |
G |
3: 96,780,813 (GRCm39) |
V353A |
probably damaging |
Het |
| Grin2d |
T |
C |
7: 45,506,948 (GRCm39) |
K509R |
possibly damaging |
Het |
| Hip1r |
T |
C |
5: 124,139,319 (GRCm39) |
I904T |
probably damaging |
Het |
| Ikbke |
T |
A |
1: 131,187,022 (GRCm39) |
|
probably null |
Het |
| Il1r1 |
T |
A |
1: 40,341,532 (GRCm39) |
C315S |
probably damaging |
Het |
| Ireb2 |
T |
A |
9: 54,789,730 (GRCm39) |
F135I |
possibly damaging |
Het |
| Jakmip3 |
C |
T |
7: 138,621,915 (GRCm39) |
L272F |
probably damaging |
Het |
| Kntc1 |
T |
A |
5: 123,949,440 (GRCm39) |
F1937Y |
probably damaging |
Het |
| Krtap4-16 |
G |
A |
11: 99,742,271 (GRCm39) |
T43I |
unknown |
Het |
| Lats2 |
A |
G |
14: 57,936,875 (GRCm39) |
V538A |
possibly damaging |
Het |
| Megf8 |
T |
A |
7: 25,046,907 (GRCm39) |
W1597R |
probably damaging |
Het |
| Mideas |
A |
T |
12: 84,219,885 (GRCm39) |
D356E |
probably benign |
Het |
| Mtus2 |
A |
T |
5: 148,014,025 (GRCm39) |
T273S |
probably benign |
Het |
| Nsun6 |
T |
A |
2: 15,047,106 (GRCm39) |
E81D |
probably benign |
Het |
| Or13c7 |
G |
A |
4: 43,855,183 (GRCm39) |
M291I |
probably benign |
Het |
| Or4c125 |
A |
T |
2: 89,170,517 (GRCm39) |
I43K |
probably damaging |
Het |
| Or56a41 |
A |
G |
7: 104,740,445 (GRCm39) |
F134L |
probably benign |
Het |
| Or8c10 |
A |
G |
9: 38,278,912 (GRCm39) |
I13M |
probably damaging |
Het |
| Or8k23 |
A |
G |
2: 86,186,408 (GRCm39) |
F106S |
probably benign |
Het |
| Oxsm |
T |
C |
14: 16,241,000 (GRCm38) |
T350A |
probably damaging |
Het |
| Pard3 |
G |
A |
8: 128,115,900 (GRCm39) |
R663Q |
possibly damaging |
Het |
| Pcdh15 |
T |
A |
10: 74,479,335 (GRCm39) |
I482N |
probably benign |
Het |
| Pcsk2 |
G |
A |
2: 143,655,501 (GRCm39) |
D562N |
probably damaging |
Het |
| Pdzk1ip1 |
T |
C |
4: 114,950,177 (GRCm39) |
M146T |
probably benign |
Het |
| Plch1 |
T |
A |
3: 63,660,747 (GRCm39) |
T279S |
|
Het |
| Plec |
C |
T |
15: 76,058,177 (GRCm39) |
R3920Q |
probably damaging |
Het |
| Polr2g |
A |
T |
19: 8,774,631 (GRCm39) |
V84E |
probably damaging |
Het |
| Ppm1m |
C |
T |
9: 106,075,104 (GRCm39) |
R147H |
probably damaging |
Het |
| Ppp2r2c |
G |
T |
5: 37,080,383 (GRCm39) |
V48L |
probably damaging |
Het |
| Pramel25 |
T |
A |
4: 143,521,855 (GRCm39) |
C490* |
probably null |
Het |
| Prcp |
A |
T |
7: 92,524,598 (GRCm39) |
T18S |
probably benign |
Het |
| Rapsn |
A |
G |
2: 90,872,268 (GRCm39) |
S201G |
probably damaging |
Het |
| Rragd |
A |
G |
4: 33,012,998 (GRCm39) |
T332A |
probably benign |
Het |
| Scrn2 |
A |
G |
11: 96,921,342 (GRCm39) |
D34G |
probably damaging |
Het |
| Serpinb6c |
T |
C |
13: 34,079,303 (GRCm39) |
T130A |
probably benign |
Het |
| Setd1b |
G |
A |
5: 123,298,401 (GRCm39) |
G1479D |
probably damaging |
Het |
| Shd |
T |
A |
17: 56,283,268 (GRCm39) |
L299Q |
probably damaging |
Het |
| Slc5a4b |
C |
T |
10: 75,945,896 (GRCm39) |
V55I |
probably benign |
Het |
| Smg1 |
C |
A |
7: 117,755,933 (GRCm39) |
R2405L |
unknown |
Het |
| Stxbp2 |
A |
T |
8: 3,686,392 (GRCm39) |
M332L |
|
Het |
| Tedc2 |
A |
G |
17: 24,435,328 (GRCm39) |
C354R |
probably benign |
Het |
| Tek |
A |
T |
4: 94,692,523 (GRCm39) |
R210S |
possibly damaging |
Het |
| Tnk2 |
T |
A |
16: 32,489,018 (GRCm39) |
M286K |
probably damaging |
Het |
| Usf3 |
T |
A |
16: 44,042,170 (GRCm39) |
C2217S |
possibly damaging |
Het |
| Wdr72 |
C |
T |
9: 74,118,041 (GRCm39) |
P930S |
probably damaging |
Het |
| Zan |
A |
G |
5: 137,456,812 (GRCm39) |
V1308A |
unknown |
Het |
| Zfp521 |
C |
T |
18: 13,978,922 (GRCm39) |
R497Q |
probably damaging |
Het |
| Zfp799 |
T |
A |
17: 33,039,435 (GRCm39) |
K277M |
probably damaging |
Het |
| Zfp949 |
C |
T |
9: 88,436,500 (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 |
|
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 |
|
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'- GTATGAGGCCCGATCTGGAAAG -3'
(R):5'- ACACCCAGAAGGATGGTCAC -3'
Sequencing Primer
(F):5'- CCCGATCTGGAAAGTAAGAGGTGTC -3'
(R):5'- CTGGATCTCAGATCTGGCCTG -3'
|
| Posted On |
2022-10-06 |
Incidental Mutation