Incidental Mutation 'R5635:Ttc41'
| ID |
448667 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Ttc41
|
| Ensembl Gene |
ENSMUSG00000044937 |
| Gene Name |
tetratricopeptide repeat domain 41 |
| Synonyms |
BC030307, Gnn |
| MMRRC Submission |
043286-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.115)
|
| Stock # |
R5635 (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 86572841 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Cysteine to Serine
at position 738
(C738S)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000075059
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000075632]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000070435
|
| SMART Domains |
Protein: ENSMUSP00000136633
Gene: ENSMUSG00000056366
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Lipocalin_7
|
3 |
133 |
6.5e-13 |
PFAM |
|
Pfam:Lipocalin
|
6 |
132 |
2.9e-31 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000075632
AA Change: C738S
PolyPhen 2
Score 0.087 (Sensitivity: 0.93; Specificity: 0.85)
|
| SMART Domains |
Protein: ENSMUSP00000075059
Gene: ENSMUSG00000044937
AA Change: C738S
| 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 |
unknown
Transcript: ENSMUST00000219476
AA Change: C31S
|
| Meta Mutation Damage Score |
0.0898 |
| Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.8%
- 10x: 97.6%
- 20x: 96.0%
|
| Validation Efficiency |
99% (90/91) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 85 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 9330159F19Rik |
T |
A |
10: 29,094,273 (GRCm39) |
M53K |
possibly damaging |
Het |
| Aldh3b3 |
C |
T |
19: 4,018,512 (GRCm39) |
T409I |
probably benign |
Het |
| Ankrd13a |
C |
A |
5: 114,939,778 (GRCm39) |
H468Q |
possibly damaging |
Het |
| Ap2a1 |
A |
C |
7: 44,573,325 (GRCm39) |
|
probably benign |
Het |
| Arfgef1 |
A |
T |
1: 10,259,085 (GRCm39) |
S671T |
possibly damaging |
Het |
| C1ra |
G |
A |
6: 124,493,683 (GRCm39) |
C145Y |
probably damaging |
Het |
| Catsperd |
G |
A |
17: 56,939,335 (GRCm39) |
V55M |
possibly damaging |
Het |
| Ccdc30 |
T |
C |
4: 119,216,871 (GRCm39) |
N123D |
possibly damaging |
Het |
| Cdc20 |
A |
T |
4: 118,293,224 (GRCm39) |
V232E |
possibly damaging |
Het |
| Cfap251 |
A |
T |
5: 123,460,635 (GRCm39) |
Q225L |
probably benign |
Het |
| Cfap58 |
T |
A |
19: 47,971,981 (GRCm39) |
V637E |
possibly damaging |
Het |
| Coq4 |
T |
A |
2: 29,678,367 (GRCm39) |
V24E |
possibly damaging |
Het |
| Crim1 |
T |
A |
17: 78,623,070 (GRCm39) |
F423I |
probably damaging |
Het |
| Crls1 |
T |
C |
2: 132,706,062 (GRCm39) |
V262A |
possibly damaging |
Het |
| Crybb1 |
T |
C |
5: 112,405,425 (GRCm39) |
|
probably null |
Het |
| Cutc |
T |
A |
19: 43,744,069 (GRCm39) |
N23K |
probably benign |
Het |
| Cxcl10 |
T |
A |
5: 92,495,698 (GRCm39) |
I82F |
probably damaging |
Het |
| Cyp3a44 |
A |
T |
5: 145,738,124 (GRCm39) |
F60L |
possibly damaging |
Het |
| Dhx9 |
A |
G |
1: 153,359,493 (GRCm39) |
M35T |
probably benign |
Het |
| Dnah8 |
A |
G |
17: 30,925,360 (GRCm39) |
E1265G |
probably benign |
Het |
| Dzank1 |
C |
G |
2: 144,325,327 (GRCm39) |
D548H |
probably damaging |
Het |
| Eef2kmt |
A |
G |
16: 5,066,893 (GRCm39) |
V120A |
probably damaging |
Het |
| Elp4 |
A |
G |
2: 105,644,609 (GRCm39) |
|
probably null |
Het |
| Etl4 |
A |
T |
2: 20,811,846 (GRCm39) |
I1310F |
probably damaging |
Het |
| Exoc6b |
A |
T |
6: 84,828,909 (GRCm39) |
F492I |
probably damaging |
Het |
| F2rl2 |
A |
T |
13: 95,837,290 (GRCm39) |
I112F |
possibly damaging |
Het |
| Farp1 |
T |
A |
14: 121,513,716 (GRCm39) |
I837N |
possibly damaging |
Het |
| Fars2 |
A |
G |
13: 36,594,129 (GRCm39) |
E378G |
probably damaging |
Het |
| Fgg |
A |
G |
3: 82,918,730 (GRCm39) |
T248A |
probably benign |
Het |
| Flrt3 |
T |
A |
2: 140,502,420 (GRCm39) |
T403S |
probably damaging |
Het |
| Fndc3b |
C |
T |
3: 27,596,080 (GRCm39) |
E170K |
probably damaging |
Het |
| Gm17728 |
A |
G |
17: 9,641,202 (GRCm39) |
H104R |
probably benign |
Het |
| H2ac21 |
C |
A |
3: 96,127,593 (GRCm39) |
T121K |
possibly damaging |
Het |
| Hivep1 |
A |
G |
13: 42,313,603 (GRCm39) |
T1948A |
probably benign |
Het |
| Hspa4l |
T |
A |
3: 40,700,177 (GRCm39) |
I23N |
probably damaging |
Het |
| Ighv1-75 |
A |
G |
12: 115,797,829 (GRCm39) |
V31A |
probably benign |
Het |
| Kalrn |
T |
A |
16: 33,834,454 (GRCm39) |
N627I |
probably damaging |
Het |
| Lrp1b |
T |
G |
2: 42,542,834 (GRCm39) |
|
probably benign |
Het |
| Lrrc36 |
G |
A |
8: 106,184,205 (GRCm39) |
V480M |
probably damaging |
Het |
| Map4k3 |
A |
T |
17: 80,920,924 (GRCm39) |
N534K |
possibly damaging |
Het |
| Mybpc3 |
C |
T |
2: 90,965,174 (GRCm39) |
T1081I |
probably benign |
Het |
| Nfrkb |
T |
C |
9: 31,310,594 (GRCm39) |
S351P |
probably damaging |
Het |
| Nme4 |
A |
T |
17: 26,313,205 (GRCm39) |
V43E |
probably damaging |
Het |
| Notch1 |
C |
T |
2: 26,366,173 (GRCm39) |
E794K |
probably damaging |
Het |
| Nufip1 |
A |
T |
14: 76,363,586 (GRCm39) |
K270M |
probably damaging |
Het |
| Or10ak16 |
G |
T |
4: 118,750,832 (GRCm39) |
G184V |
probably benign |
Het |
| Or1e30 |
G |
T |
11: 73,678,460 (GRCm39) |
R232L |
probably benign |
Het |
| Or51b6 |
G |
A |
7: 103,555,845 (GRCm39) |
M66I |
probably benign |
Het |
| Or5t5 |
A |
G |
2: 86,616,070 (GRCm39) |
|
probably null |
Het |
| Or8g51 |
A |
G |
9: 38,609,455 (GRCm39) |
I73T |
possibly damaging |
Het |
| Pcdhb15 |
T |
A |
18: 37,606,823 (GRCm39) |
Y18* |
probably null |
Het |
| Pcdhb21 |
A |
T |
18: 37,646,970 (GRCm39) |
Y33F |
probably benign |
Het |
| Pds5b |
T |
A |
5: 150,701,686 (GRCm39) |
H772Q |
possibly damaging |
Het |
| Pik3r4 |
C |
A |
9: 105,545,024 (GRCm39) |
H168N |
probably benign |
Het |
| Pitpnm3 |
A |
G |
11: 71,957,986 (GRCm39) |
S386P |
possibly damaging |
Het |
| Plg |
A |
G |
17: 12,614,641 (GRCm39) |
H307R |
probably damaging |
Het |
| Prdm9 |
A |
C |
17: 15,782,702 (GRCm39) |
D96E |
probably damaging |
Het |
| Prmt8 |
A |
G |
6: 127,745,692 (GRCm39) |
S7P |
probably damaging |
Het |
| Prune2 |
T |
C |
19: 17,095,573 (GRCm39) |
V359A |
probably benign |
Het |
| Pxn |
A |
T |
5: 115,689,551 (GRCm39) |
Q279L |
probably benign |
Het |
| Rarb |
A |
T |
14: 16,443,788 (GRCm38) |
C167S |
probably damaging |
Het |
| Rps6kb2 |
T |
A |
19: 4,211,133 (GRCm39) |
I131F |
probably damaging |
Het |
| Sec14l3 |
T |
A |
11: 4,021,484 (GRCm39) |
V219E |
probably damaging |
Het |
| Simc1 |
A |
G |
13: 54,673,217 (GRCm39) |
T522A |
probably benign |
Het |
| Slc1a6 |
T |
C |
10: 78,624,925 (GRCm39) |
V110A |
possibly damaging |
Het |
| Slc38a11 |
T |
G |
2: 65,191,747 (GRCm39) |
|
probably null |
Het |
| Snx13 |
T |
A |
12: 35,190,170 (GRCm39) |
D840E |
probably benign |
Het |
| Sp100 |
C |
A |
1: 85,609,985 (GRCm39) |
|
probably benign |
Het |
| Spc24 |
G |
T |
9: 21,668,686 (GRCm39) |
L104I |
probably damaging |
Het |
| Surf4 |
T |
C |
2: 26,823,325 (GRCm39) |
N4D |
probably benign |
Het |
| Tas2r131 |
A |
T |
6: 132,934,571 (GRCm39) |
D79E |
probably benign |
Het |
| Tbc1d20 |
T |
C |
2: 152,153,381 (GRCm39) |
S304P |
probably benign |
Het |
| Tbrg1 |
T |
C |
9: 37,566,287 (GRCm39) |
|
probably benign |
Het |
| Tmem214 |
A |
G |
5: 31,028,861 (GRCm39) |
N150S |
probably damaging |
Het |
| Trappc13 |
A |
T |
13: 104,286,606 (GRCm39) |
I217K |
probably benign |
Het |
| Ttn |
T |
C |
2: 76,540,068 (GRCm39) |
Q25979R |
probably benign |
Het |
| Tubb2b |
A |
T |
13: 34,312,180 (GRCm39) |
N204K |
probably damaging |
Het |
| Ube3a |
T |
A |
7: 58,938,236 (GRCm39) |
M713K |
probably damaging |
Het |
| Usp37 |
T |
C |
1: 74,534,970 (GRCm39) |
|
probably benign |
Het |
| Vegfb |
T |
A |
19: 6,960,214 (GRCm39) |
*189C |
probably null |
Het |
| Vmn2r82 |
A |
G |
10: 79,214,652 (GRCm39) |
N212D |
probably benign |
Het |
| Vta1 |
A |
T |
10: 14,543,866 (GRCm39) |
|
probably null |
Het |
| Xdh |
T |
G |
17: 74,220,870 (GRCm39) |
I620L |
possibly damaging |
Het |
| Xpnpep3 |
A |
G |
15: 81,320,970 (GRCm39) |
Y283C |
probably benign |
Het |
| Zscan18 |
A |
G |
7: 12,504,791 (GRCm39) |
S609P |
probably benign |
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 |
|
|
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'- TAAGCACTCCGGTGAGAGAG -3'
(R):5'- GATAGATGCCTCAGTGTAGGG -3'
Sequencing Primer
(F):5'- GAGAGCAATCCCAATGTGGCC -3'
(R):5'- ACCCTCCTAGAAGCAGGG -3'
|
| Posted On |
2016-12-15 |
Incidental Mutation