Incidental Mutation 'R0379:Ttc41'
| ID |
30879 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Ttc41
|
| Ensembl Gene |
ENSMUSG00000044937 |
| Gene Name |
tetratricopeptide repeat domain 41 |
| Synonyms |
BC030307, Gnn |
| MMRRC Submission |
038585-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.126)
|
| Stock # |
R0379 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
10 |
| Chromosomal Location |
86541675-86612708 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 86548841 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Tyrosine to Asparagine
at position 12
(Y12N)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000151920
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000061458]
[ENSMUST00000075632]
[ENSMUST00000217747]
[ENSMUST00000219108]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000061458
AA Change: Y12N
PolyPhen 2
Score 0.655 (Sensitivity: 0.87; Specificity: 0.91)
|
| SMART Domains |
Protein: ENSMUSP00000062844
Gene: ENSMUSG00000044937
AA Change: Y12N
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
216 |
229 |
N/A |
INTRINSIC |
|
low complexity region
|
307 |
315 |
N/A |
INTRINSIC |
|
Blast:AAA
|
336 |
401 |
9e-8 |
BLAST |
|
SCOP:d1jpna2
|
338 |
370 |
1e-3 |
SMART |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000075632
AA Change: Y12N
PolyPhen 2
Score 0.524 (Sensitivity: 0.88; Specificity: 0.90)
|
| SMART Domains |
Protein: ENSMUSP00000075059
Gene: ENSMUSG00000044937
AA Change: Y12N
| 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 |
possibly damaging
Transcript: ENSMUST00000217747
AA Change: Y12N
PolyPhen 2
Score 0.655 (Sensitivity: 0.87; Specificity: 0.91)
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000219108
AA Change: Y12N
PolyPhen 2
Score 0.655 (Sensitivity: 0.87; Specificity: 0.91)
|
| Meta Mutation Damage Score |
0.1795 |
| Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.1%
- 10x: 95.7%
- 20x: 90.9%
|
| Validation Efficiency |
98% (79/81) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 78 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4930512M02Rik |
A |
G |
11: 11,539,365 (GRCm39) |
|
probably benign |
Het |
| Apba1 |
A |
C |
19: 23,912,194 (GRCm39) |
N558T |
probably damaging |
Het |
| Arfgef2 |
T |
A |
2: 166,702,320 (GRCm39) |
|
probably null |
Het |
| Arsb |
T |
C |
13: 94,077,135 (GRCm39) |
S501P |
probably benign |
Het |
| Atp10b |
A |
G |
11: 43,145,141 (GRCm39) |
T1295A |
probably benign |
Het |
| Atp8b5 |
G |
T |
4: 43,361,898 (GRCm39) |
R648L |
probably damaging |
Het |
| Bcl2a1b |
T |
C |
9: 89,081,789 (GRCm39) |
I126T |
possibly damaging |
Het |
| Brd9 |
T |
C |
13: 74,090,802 (GRCm39) |
|
probably benign |
Het |
| Cd93 |
T |
C |
2: 148,283,430 (GRCm39) |
|
probably benign |
Het |
| Chd5 |
A |
G |
4: 152,467,778 (GRCm39) |
K1692R |
probably benign |
Het |
| Clcn4 |
T |
C |
7: 7,299,791 (GRCm39) |
T13A |
probably damaging |
Het |
| Clec14a |
A |
G |
12: 58,315,580 (GRCm39) |
F14S |
possibly damaging |
Het |
| Clec4g |
A |
G |
8: 3,768,440 (GRCm39) |
V97A |
probably benign |
Het |
| Col24a1 |
G |
A |
3: 145,229,897 (GRCm39) |
R1483K |
possibly damaging |
Het |
| Crem |
A |
T |
18: 3,299,226 (GRCm39) |
V82D |
probably damaging |
Het |
| Ctnna2 |
T |
A |
6: 77,618,423 (GRCm39) |
T180S |
probably benign |
Het |
| Cybrd1 |
T |
C |
2: 70,960,099 (GRCm39) |
I99T |
probably benign |
Het |
| Cyp4a32 |
G |
A |
4: 115,478,671 (GRCm39) |
V468M |
probably damaging |
Het |
| Dlk1 |
A |
G |
12: 109,420,985 (GRCm39) |
|
probably benign |
Het |
| Dnaaf9 |
C |
T |
2: 130,627,466 (GRCm39) |
|
probably benign |
Het |
| Dnah7b |
A |
T |
1: 46,179,336 (GRCm39) |
Y1003F |
probably benign |
Het |
| Egfem1 |
A |
C |
3: 29,722,399 (GRCm39) |
E376A |
possibly damaging |
Het |
| Etl4 |
T |
A |
2: 20,812,165 (GRCm39) |
I1416K |
probably damaging |
Het |
| Fbxl4 |
A |
G |
4: 22,386,106 (GRCm39) |
T238A |
probably benign |
Het |
| Fer1l6 |
A |
G |
15: 58,420,187 (GRCm39) |
I33M |
probably benign |
Het |
| Fndc3a |
A |
G |
14: 72,794,049 (GRCm39) |
S830P |
probably damaging |
Het |
| Fras1 |
C |
T |
5: 96,903,368 (GRCm39) |
R3082* |
probably null |
Het |
| Galnt13 |
T |
C |
2: 54,950,504 (GRCm39) |
V395A |
possibly damaging |
Het |
| Gpd2 |
C |
T |
2: 57,235,275 (GRCm39) |
T335I |
probably damaging |
Het |
| Gucy2d |
C |
A |
7: 98,108,209 (GRCm39) |
|
probably null |
Het |
| Hydin |
A |
G |
8: 111,235,759 (GRCm39) |
|
probably benign |
Het |
| Ints5 |
G |
T |
19: 8,874,497 (GRCm39) |
V819L |
possibly damaging |
Het |
| Klhdc10 |
C |
G |
6: 30,450,669 (GRCm39) |
Q292E |
possibly damaging |
Het |
| Lmbrd2 |
G |
A |
15: 9,149,566 (GRCm39) |
A67T |
probably benign |
Het |
| Lrp1 |
T |
G |
10: 127,430,838 (GRCm39) |
T404P |
probably damaging |
Het |
| Marchf7 |
T |
C |
2: 60,064,470 (GRCm39) |
S249P |
probably benign |
Het |
| Mcm10 |
T |
A |
2: 5,013,434 (GRCm39) |
K66M |
probably benign |
Het |
| Mtmr7 |
C |
A |
8: 41,004,642 (GRCm39) |
D645Y |
probably damaging |
Het |
| Muc6 |
T |
A |
7: 141,216,868 (GRCm39) |
I2602F |
possibly damaging |
Het |
| Myh13 |
G |
A |
11: 67,260,121 (GRCm39) |
|
probably benign |
Het |
| Myo18a |
G |
A |
11: 77,741,632 (GRCm39) |
V1776I |
possibly damaging |
Het |
| Ncapg2 |
T |
C |
12: 116,406,695 (GRCm39) |
L957S |
probably damaging |
Het |
| Ncoa3 |
T |
C |
2: 165,896,422 (GRCm39) |
S442P |
probably damaging |
Het |
| Or5t5 |
G |
A |
2: 86,616,079 (GRCm39) |
E2K |
probably benign |
Het |
| Or6x1 |
G |
A |
9: 40,098,729 (GRCm39) |
G106D |
probably damaging |
Het |
| Or7g32 |
T |
A |
9: 19,388,776 (GRCm39) |
T257S |
possibly damaging |
Het |
| Pdcd6 |
G |
T |
13: 74,457,831 (GRCm39) |
N113K |
possibly damaging |
Het |
| Pfkfb4 |
C |
T |
9: 108,856,810 (GRCm39) |
|
probably benign |
Het |
| Pfkm |
A |
G |
15: 98,024,195 (GRCm39) |
H401R |
probably benign |
Het |
| Phldb2 |
C |
A |
16: 45,601,814 (GRCm39) |
D754Y |
probably damaging |
Het |
| Plekhb2 |
T |
A |
1: 34,902,195 (GRCm39) |
M49K |
probably damaging |
Het |
| Polrmt |
A |
G |
10: 79,573,445 (GRCm39) |
S1057P |
possibly damaging |
Het |
| Prps1l1 |
A |
G |
12: 35,035,077 (GRCm39) |
N64S |
probably benign |
Het |
| Prss3l |
T |
G |
6: 41,422,190 (GRCm39) |
|
probably benign |
Het |
| Psg16 |
T |
C |
7: 16,864,583 (GRCm39) |
S393P |
probably benign |
Het |
| Rundc1 |
C |
T |
11: 101,315,973 (GRCm39) |
T15I |
probably benign |
Het |
| Scaf11 |
A |
G |
15: 96,329,697 (GRCm39) |
L143S |
probably damaging |
Het |
| Sephs1 |
A |
G |
2: 4,904,371 (GRCm39) |
T250A |
probably benign |
Het |
| Serpinf1 |
T |
G |
11: 75,304,771 (GRCm39) |
I197L |
probably benign |
Het |
| Siglec1 |
C |
T |
2: 130,916,445 (GRCm39) |
|
probably benign |
Het |
| Slc28a1 |
G |
A |
7: 80,787,925 (GRCm39) |
V271I |
probably benign |
Het |
| Sntg1 |
T |
C |
1: 8,853,048 (GRCm39) |
D34G |
probably damaging |
Het |
| Sptbn4 |
A |
T |
7: 27,059,161 (GRCm39) |
|
probably benign |
Het |
| Suclg1 |
T |
C |
6: 73,233,211 (GRCm39) |
I51T |
possibly damaging |
Het |
| Syne1 |
C |
T |
10: 5,491,989 (GRCm39) |
R9Q |
probably damaging |
Het |
| Trim47 |
T |
A |
11: 115,997,344 (GRCm39) |
H470L |
probably damaging |
Het |
| Tubgcp2 |
T |
C |
7: 139,612,105 (GRCm39) |
E69G |
probably damaging |
Het |
| Tubgcp3 |
G |
A |
8: 12,691,116 (GRCm39) |
T474M |
probably damaging |
Het |
| Ubr5 |
A |
T |
15: 38,019,201 (GRCm39) |
N777K |
probably benign |
Het |
| Ush2a |
T |
C |
1: 188,184,016 (GRCm39) |
L1440P |
probably damaging |
Het |
| Usp28 |
A |
C |
9: 48,935,367 (GRCm39) |
D458A |
possibly damaging |
Het |
| Vcan |
A |
T |
13: 89,851,665 (GRCm39) |
D1098E |
probably damaging |
Het |
| Vmn1r73 |
C |
T |
7: 11,490,773 (GRCm39) |
T197I |
probably benign |
Het |
| Vmn2r15 |
T |
C |
5: 109,434,344 (GRCm39) |
S787G |
probably damaging |
Het |
| Vmn2r90 |
T |
A |
17: 17,948,401 (GRCm39) |
I549N |
probably damaging |
Het |
| Vps33b |
T |
A |
7: 79,933,162 (GRCm39) |
|
probably null |
Het |
| Zfp516 |
A |
T |
18: 83,005,795 (GRCm39) |
K900* |
probably null |
Het |
| Zfp974 |
T |
A |
7: 27,610,357 (GRCm39) |
N456I |
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 |
|
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 |
|
R8021:Ttc41
|
UTSW |
10 |
86,569,578 (GRCm39) |
missense |
probably benign |
|
|
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'- GGGGAGACACAAACTGCCTGTAATC -3'
(R):5'- TCACGTAGTCCAGGGAGAGTTTCAG -3'
Sequencing Primer
(F):5'- AGATTGCTTAACCATTGCATCC -3'
(R):5'- AAGGACTTATGGGCCTTCAC -3'
|
| Posted On |
2013-04-24 |
Incidental Mutation