Incidental Mutation 'R8021:Ttc41'
| ID |
617378 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Ttc41
|
| Ensembl Gene |
ENSMUSG00000044937 |
| Gene Name |
tetratricopeptide repeat domain 41 |
| Synonyms |
BC030307, Gnn |
| MMRRC Submission |
067460-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.126)
|
| Stock # |
R8021 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
10 |
| Chromosomal Location |
86541675-86612708 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to A
at 86569578 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Asparagine
at position 652
(T652N)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000075059
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000075632]
[ENSMUST00000219108]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000075632
AA Change: T652N
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000075059
Gene: ENSMUSG00000044937
AA Change: T652N
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
216 |
229 |
N/A |
INTRINSIC |
|
low complexity region
|
307 |
315 |
N/A |
INTRINSIC |
|
Pfam:NACHT
|
337 |
515 |
5.4e-10 |
PFAM |
|
SCOP:d1qqea_
|
805 |
1028 |
2e-5 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000219108
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000219476
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.8%
- 20x: 99.3%
|
| Validation Efficiency |
97% (74/76) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 77 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1810010H24Rik |
A |
G |
11: 106,916,753 (GRCm39) |
I12V |
unknown |
Het |
| A630010A05Rik |
C |
T |
16: 14,407,110 (GRCm39) |
T13I |
|
Het |
| Acsm5 |
A |
G |
7: 119,141,616 (GRCm39) |
E537G |
possibly damaging |
Het |
| Adam25 |
C |
A |
8: 41,207,796 (GRCm39) |
A354E |
probably damaging |
Het |
| Adamts3 |
T |
C |
5: 89,831,043 (GRCm39) |
K1004E |
possibly damaging |
Het |
| Ap3d1 |
C |
A |
10: 80,550,135 (GRCm39) |
V699L |
probably benign |
Het |
| Arel1 |
T |
G |
12: 84,981,732 (GRCm39) |
H216P |
possibly damaging |
Het |
| Armc12 |
T |
A |
17: 28,749,879 (GRCm39) |
F8I |
probably benign |
Het |
| Armh3 |
C |
T |
19: 45,945,180 (GRCm39) |
|
probably null |
Het |
| Ascc3 |
T |
A |
10: 50,607,744 (GRCm39) |
M1416K |
probably benign |
Het |
| Catsperb |
A |
C |
12: 101,554,322 (GRCm39) |
N672T |
probably benign |
Het |
| Ccdc30 |
T |
C |
4: 119,209,876 (GRCm39) |
H291R |
probably benign |
Het |
| Cd33 |
A |
G |
7: 43,178,262 (GRCm39) |
V371A |
unknown |
Het |
| Cpt1b |
A |
T |
15: 89,305,629 (GRCm39) |
M362K |
probably benign |
Het |
| Dusp5 |
T |
A |
19: 53,517,929 (GRCm39) |
S61T |
probably benign |
Het |
| Eogt |
T |
G |
6: 97,111,291 (GRCm39) |
D190A |
probably damaging |
Het |
| Fat3 |
T |
A |
9: 15,910,405 (GRCm39) |
I1866F |
probably damaging |
Het |
| Fer1l4 |
T |
A |
2: 155,864,511 (GRCm39) |
I1668F |
probably damaging |
Het |
| Foxn3 |
A |
T |
12: 99,355,161 (GRCm39) |
M1K |
probably null |
Het |
| Frs3 |
T |
A |
17: 48,014,039 (GRCm39) |
V244E |
probably damaging |
Het |
| Grik1 |
C |
T |
16: 87,711,110 (GRCm39) |
V832I |
|
Het |
| Gtf2ird2 |
T |
A |
5: 134,232,175 (GRCm39) |
V242E |
probably benign |
Het |
| Gtpbp2 |
C |
T |
17: 46,475,195 (GRCm39) |
R97C |
possibly damaging |
Het |
| Habp2 |
T |
A |
19: 56,302,485 (GRCm39) |
V263E |
probably benign |
Het |
| Iars2 |
T |
A |
1: 185,054,654 (GRCm39) |
I337L |
probably benign |
Het |
| Ifi204 |
T |
C |
1: 173,586,919 (GRCm39) |
|
probably benign |
Het |
| Itih2 |
T |
C |
2: 10,110,463 (GRCm39) |
T543A |
probably benign |
Het |
| Kdm2b |
A |
G |
5: 123,070,982 (GRCm39) |
S372P |
probably damaging |
Het |
| Kit |
T |
A |
5: 75,776,151 (GRCm39) |
V311E |
possibly damaging |
Het |
| Kmt2c |
C |
G |
5: 25,492,117 (GRCm39) |
V4230L |
possibly damaging |
Het |
| Lao1 |
T |
C |
4: 118,825,674 (GRCm39) |
I498T |
probably damaging |
Het |
| Lrp1 |
G |
T |
10: 127,384,215 (GRCm39) |
D3641E |
possibly damaging |
Het |
| Mapk8ip1 |
A |
T |
2: 92,216,760 (GRCm39) |
S477T |
possibly damaging |
Het |
| Mast3 |
C |
T |
8: 71,240,896 (GRCm39) |
G218S |
probably benign |
Het |
| Mical1 |
T |
C |
10: 41,358,720 (GRCm39) |
V546A |
probably damaging |
Het |
| Nck2 |
T |
C |
1: 43,593,420 (GRCm39) |
V209A |
probably benign |
Het |
| Ndufs4 |
A |
G |
13: 114,444,351 (GRCm39) |
|
probably null |
Het |
| Nek3 |
C |
T |
8: 22,647,206 (GRCm39) |
V139M |
probably damaging |
Het |
| Or10v5 |
T |
C |
19: 11,806,256 (GRCm39) |
I45V |
probably benign |
Het |
| Or5ak24 |
A |
T |
2: 85,260,996 (GRCm39) |
M59K |
probably damaging |
Het |
| Or7e171-ps1 |
A |
C |
9: 19,853,375 (GRCm39) |
Y120* |
probably null |
Het |
| Or8b9 |
T |
A |
9: 37,766,592 (GRCm39) |
H159Q |
probably damaging |
Het |
| Otog |
A |
T |
7: 45,916,766 (GRCm39) |
N901I |
probably damaging |
Het |
| Pclo |
A |
C |
5: 14,589,798 (GRCm39) |
Q699H |
unknown |
Het |
| Pcnx1 |
C |
T |
12: 81,965,593 (GRCm39) |
R59* |
probably null |
Het |
| Pde12 |
A |
T |
14: 26,386,854 (GRCm39) |
Y551* |
probably null |
Het |
| Pigg |
A |
G |
5: 108,467,805 (GRCm39) |
D268G |
probably damaging |
Het |
| Ppp1r21 |
A |
G |
17: 88,856,935 (GRCm39) |
D130G |
probably benign |
Het |
| Psip1 |
T |
C |
4: 83,378,192 (GRCm39) |
T435A |
possibly damaging |
Het |
| Rad54l2 |
T |
C |
9: 106,596,840 (GRCm39) |
S189G |
probably benign |
Het |
| Rgs14 |
T |
C |
13: 55,531,569 (GRCm39) |
C498R |
probably damaging |
Het |
| Ripply3 |
C |
A |
16: 94,129,369 (GRCm39) |
A5E |
probably benign |
Het |
| Rps6ka4 |
T |
C |
19: 6,807,777 (GRCm39) |
D676G |
probably benign |
Het |
| Rsbn1 |
T |
C |
3: 103,835,898 (GRCm39) |
L312S |
possibly damaging |
Het |
| Secisbp2 |
T |
A |
13: 51,819,664 (GRCm39) |
*415R |
probably null |
Het |
| Sephs1 |
T |
A |
2: 4,911,434 (GRCm39) |
F336Y |
probably benign |
Het |
| Setdb2 |
A |
T |
14: 59,660,833 (GRCm39) |
Y103* |
probably null |
Het |
| Slit2 |
T |
A |
5: 48,459,834 (GRCm39) |
C1371* |
probably null |
Het |
| Spata31e4 |
A |
G |
13: 50,855,130 (GRCm39) |
N256S |
possibly damaging |
Het |
| Stab2 |
C |
T |
10: 86,741,403 (GRCm39) |
A1239T |
possibly damaging |
Het |
| Taf4b |
T |
A |
18: 14,937,581 (GRCm39) |
V218E |
probably damaging |
Het |
| Tars2 |
T |
C |
3: 95,654,826 (GRCm39) |
N393S |
probably benign |
Het |
| Tbc1d30 |
A |
G |
10: 121,103,448 (GRCm39) |
M528T |
probably benign |
Het |
| Tchp |
A |
G |
5: 114,856,478 (GRCm39) |
E363G |
probably damaging |
Het |
| Tec |
T |
A |
5: 72,914,812 (GRCm39) |
N568I |
probably benign |
Het |
| Ticam1 |
A |
G |
17: 56,577,089 (GRCm39) |
S669P |
unknown |
Het |
| Tnk1 |
A |
G |
11: 69,745,810 (GRCm39) |
S372P |
probably benign |
Het |
| Tnpo2 |
G |
A |
8: 85,781,835 (GRCm39) |
A847T |
probably damaging |
Het |
| Tsc1 |
A |
T |
2: 28,576,901 (GRCm39) |
I1068F |
possibly damaging |
Het |
| Ttc14 |
T |
A |
3: 33,863,270 (GRCm39) |
Y559* |
probably null |
Het |
| Tut1 |
T |
A |
19: 8,932,873 (GRCm39) |
S69T |
probably benign |
Het |
| Uck1 |
T |
C |
2: 32,149,929 (GRCm39) |
S40G |
probably benign |
Het |
| Vmn2r76 |
G |
A |
7: 85,874,958 (GRCm39) |
T673I |
probably damaging |
Het |
| Vps13d |
G |
T |
4: 144,875,245 (GRCm39) |
P1760H |
|
Het |
| Zbp1 |
T |
C |
2: 173,051,003 (GRCm39) |
N289S |
possibly damaging |
Het |
| Zc3hav1l |
C |
A |
6: 38,274,882 (GRCm39) |
|
probably benign |
Het |
| Zzef1 |
A |
T |
11: 72,714,242 (GRCm39) |
D244V |
probably damaging |
Het |
|
| Other mutations in Ttc41 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00846:Ttc41
|
APN |
10 |
86,572,797 (GRCm39) |
missense |
possibly damaging |
0.71 |
|
IGL01373:Ttc41
|
APN |
10 |
86,611,821 (GRCm39) |
missense |
possibly damaging |
0.61 |
|
IGL01636:Ttc41
|
APN |
10 |
86,612,542 (GRCm39) |
missense |
probably benign |
|
|
IGL01707:Ttc41
|
APN |
10 |
86,612,631 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01814:Ttc41
|
APN |
10 |
86,566,890 (GRCm39) |
missense |
probably damaging |
0.98 |
|
IGL01845:Ttc41
|
APN |
10 |
86,612,488 (GRCm39) |
missense |
probably benign |
0.03 |
|
IGL01918:Ttc41
|
APN |
10 |
86,549,054 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02374:Ttc41
|
APN |
10 |
86,611,815 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02489:Ttc41
|
APN |
10 |
86,596,778 (GRCm39) |
nonsense |
probably null |
|
|
IGL02887:Ttc41
|
APN |
10 |
86,569,518 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL03061:Ttc41
|
APN |
10 |
86,572,721 (GRCm39) |
missense |
possibly damaging |
0.65 |
|
IGL03077:Ttc41
|
APN |
10 |
86,594,212 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL03210:Ttc41
|
APN |
10 |
86,560,278 (GRCm39) |
critical splice donor site |
probably null |
|
|
IGL03242:Ttc41
|
APN |
10 |
86,612,683 (GRCm39) |
makesense |
probably null |
|
|
IGL03307:Ttc41
|
APN |
10 |
86,580,304 (GRCm39) |
missense |
possibly damaging |
0.76 |
|
BB003:Ttc41
|
UTSW |
10 |
86,611,911 (GRCm39) |
missense |
probably benign |
0.10 |
|
BB013:Ttc41
|
UTSW |
10 |
86,611,911 (GRCm39) |
missense |
probably benign |
0.10 |
|
R0071:Ttc41
|
UTSW |
10 |
86,572,710 (GRCm39) |
missense |
probably benign |
0.01 |
|
R0071:Ttc41
|
UTSW |
10 |
86,572,710 (GRCm39) |
missense |
probably benign |
0.01 |
|
R0379:Ttc41
|
UTSW |
10 |
86,548,841 (GRCm39) |
missense |
possibly damaging |
0.65 |
|
R0384:Ttc41
|
UTSW |
10 |
86,599,811 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0545:Ttc41
|
UTSW |
10 |
86,594,961 (GRCm39) |
missense |
probably benign |
0.00 |
|
R1589:Ttc41
|
UTSW |
10 |
86,612,254 (GRCm39) |
missense |
probably benign |
0.01 |
|
R1599:Ttc41
|
UTSW |
10 |
86,612,437 (GRCm39) |
missense |
probably benign |
0.04 |
|
R1608:Ttc41
|
UTSW |
10 |
86,611,857 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1670:Ttc41
|
UTSW |
10 |
86,612,116 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
R1938:Ttc41
|
UTSW |
10 |
86,612,078 (GRCm39) |
missense |
probably benign |
|
|
R2398:Ttc41
|
UTSW |
10 |
86,549,250 (GRCm39) |
missense |
possibly damaging |
0.91 |
|
R2401:Ttc41
|
UTSW |
10 |
86,560,238 (GRCm39) |
missense |
probably benign |
0.42 |
|
R3117:Ttc41
|
UTSW |
10 |
86,560,184 (GRCm39) |
missense |
possibly damaging |
0.62 |
|
R3119:Ttc41
|
UTSW |
10 |
86,560,184 (GRCm39) |
missense |
possibly damaging |
0.62 |
|
R4805:Ttc41
|
UTSW |
10 |
86,565,662 (GRCm39) |
missense |
possibly damaging |
0.62 |
|
R4840:Ttc41
|
UTSW |
10 |
86,566,989 (GRCm39) |
missense |
probably benign |
0.10 |
|
R4841:Ttc41
|
UTSW |
10 |
86,566,989 (GRCm39) |
missense |
probably benign |
0.10 |
|
R4842:Ttc41
|
UTSW |
10 |
86,566,989 (GRCm39) |
missense |
probably benign |
0.10 |
|
R4884:Ttc41
|
UTSW |
10 |
86,566,882 (GRCm39) |
missense |
probably benign |
0.00 |
|
R4885:Ttc41
|
UTSW |
10 |
86,594,966 (GRCm39) |
missense |
possibly damaging |
0.76 |
|
R4898:Ttc41
|
UTSW |
10 |
86,612,056 (GRCm39) |
missense |
possibly damaging |
0.80 |
|
R5067:Ttc41
|
UTSW |
10 |
86,580,408 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R5253:Ttc41
|
UTSW |
10 |
86,566,806 (GRCm39) |
missense |
probably benign |
0.13 |
|
R5268:Ttc41
|
UTSW |
10 |
86,580,342 (GRCm39) |
missense |
possibly damaging |
0.76 |
|
R5297:Ttc41
|
UTSW |
10 |
86,612,443 (GRCm39) |
missense |
probably benign |
0.04 |
|
R5301:Ttc41
|
UTSW |
10 |
86,555,384 (GRCm39) |
missense |
probably benign |
0.00 |
|
R5425:Ttc41
|
UTSW |
10 |
86,612,494 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R5567:Ttc41
|
UTSW |
10 |
86,596,784 (GRCm39) |
critical splice donor site |
probably null |
|
|
R5635:Ttc41
|
UTSW |
10 |
86,572,841 (GRCm39) |
missense |
probably benign |
0.09 |
|
R5752:Ttc41
|
UTSW |
10 |
86,594,210 (GRCm39) |
missense |
probably benign |
0.33 |
|
R5868:Ttc41
|
UTSW |
10 |
86,586,128 (GRCm39) |
missense |
possibly damaging |
0.70 |
|
R5948:Ttc41
|
UTSW |
10 |
86,549,088 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6116:Ttc41
|
UTSW |
10 |
86,594,952 (GRCm39) |
critical splice acceptor site |
probably null |
|
|
R6247:Ttc41
|
UTSW |
10 |
86,612,527 (GRCm39) |
missense |
probably benign |
0.00 |
|
R6260:Ttc41
|
UTSW |
10 |
86,569,571 (GRCm39) |
missense |
probably benign |
0.32 |
|
R6260:Ttc41
|
UTSW |
10 |
86,567,023 (GRCm39) |
missense |
probably benign |
0.20 |
|
R6276:Ttc41
|
UTSW |
10 |
86,580,313 (GRCm39) |
missense |
probably benign |
0.01 |
|
R6458:Ttc41
|
UTSW |
10 |
86,594,134 (GRCm39) |
missense |
possibly damaging |
0.45 |
|
R7170:Ttc41
|
UTSW |
10 |
86,549,367 (GRCm39) |
missense |
probably benign |
0.17 |
|
R7348:Ttc41
|
UTSW |
10 |
86,586,212 (GRCm39) |
nonsense |
probably null |
|
|
R7382:Ttc41
|
UTSW |
10 |
86,612,374 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R7509:Ttc41
|
UTSW |
10 |
86,549,296 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7689:Ttc41
|
UTSW |
10 |
86,595,088 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7807:Ttc41
|
UTSW |
10 |
86,612,495 (GRCm39) |
missense |
probably benign |
0.02 |
|
R7926:Ttc41
|
UTSW |
10 |
86,611,911 (GRCm39) |
missense |
probably benign |
0.10 |
|
R7998:Ttc41
|
UTSW |
10 |
86,572,711 (GRCm39) |
missense |
probably benign |
0.01 |
|
R8059:Ttc41
|
UTSW |
10 |
86,548,842 (GRCm39) |
missense |
probably benign |
0.01 |
|
R8170:Ttc41
|
UTSW |
10 |
86,612,030 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8303:Ttc41
|
UTSW |
10 |
86,555,494 (GRCm39) |
missense |
probably benign |
0.06 |
|
R8375:Ttc41
|
UTSW |
10 |
86,599,844 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R8383:Ttc41
|
UTSW |
10 |
86,555,390 (GRCm39) |
missense |
probably benign |
0.00 |
|
R8698:Ttc41
|
UTSW |
10 |
86,548,841 (GRCm39) |
missense |
probably benign |
0.00 |
|
R8773:Ttc41
|
UTSW |
10 |
86,565,679 (GRCm39) |
missense |
probably benign |
0.35 |
|
R8902:Ttc41
|
UTSW |
10 |
86,548,865 (GRCm39) |
missense |
probably benign |
0.06 |
|
R8985:Ttc41
|
UTSW |
10 |
86,566,956 (GRCm39) |
missense |
possibly damaging |
0.80 |
|
R8988:Ttc41
|
UTSW |
10 |
86,549,599 (GRCm39) |
missense |
possibly damaging |
0.88 |
|
R9007:Ttc41
|
UTSW |
10 |
86,569,625 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9137:Ttc41
|
UTSW |
10 |
86,612,486 (GRCm39) |
missense |
probably benign |
0.22 |
|
R9236:Ttc41
|
UTSW |
10 |
86,612,594 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9248:Ttc41
|
UTSW |
10 |
86,567,113 (GRCm39) |
missense |
probably benign |
0.00 |
|
R9287:Ttc41
|
UTSW |
10 |
86,599,830 (GRCm39) |
missense |
probably benign |
0.43 |
|
R9345:Ttc41
|
UTSW |
10 |
86,595,089 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R9386:Ttc41
|
UTSW |
10 |
86,548,890 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R9500:Ttc41
|
UTSW |
10 |
86,565,726 (GRCm39) |
missense |
probably benign |
0.03 |
|
R9570:Ttc41
|
UTSW |
10 |
86,549,598 (GRCm39) |
missense |
possibly damaging |
0.88 |
|
R9593:Ttc41
|
UTSW |
10 |
86,549,049 (GRCm39) |
missense |
probably benign |
0.24 |
|
X0024:Ttc41
|
UTSW |
10 |
86,560,114 (GRCm39) |
missense |
probably damaging |
1.00 |
|
X0064:Ttc41
|
UTSW |
10 |
86,565,661 (GRCm39) |
missense |
probably benign |
0.01 |
|
| Predicted Primers |
PCR Primer
(F):5'- TTTCCTGGTGTAGTGGACCC -3'
(R):5'- CAGCTGTCCTGCATGTTTG -3'
Sequencing Primer
(F):5'- GGTGTAGTGGACCCCCTACTTC -3'
(R):5'- GCATGTTTGCTCATCTCTGCTAGAG -3'
|
| Posted On |
2020-01-23 |
Incidental Mutation