Incidental Mutation 'R7348:Ttc41'
| ID |
570370 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Ttc41
|
| Ensembl Gene |
ENSMUSG00000044937 |
| Gene Name |
tetratricopeptide repeat domain 41 |
| Synonyms |
BC030307, Gnn |
| MMRRC Submission |
045380-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.126)
|
| Stock # |
R7348 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
10 |
| Chromosomal Location |
86541675-86612708 bp(+) (GRCm39) |
| Type of Mutation |
nonsense |
| DNA Base Change (assembly) |
G to T
at 86586212 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamic Acid to Stop codon
at position 839
(E839*)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000075059
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000075632]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
probably null
Transcript: ENSMUST00000075632
AA Change: E839*
|
| SMART Domains |
Protein: ENSMUSP00000075059
Gene: ENSMUSG00000044937
AA Change: E839*
| 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: ENSMUST00000219476
|
| Meta Mutation Damage Score |
0.9755 |
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.7%
- 20x: 98.8%
|
| Validation Efficiency |
99% (80/81) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 79 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abra |
G |
A |
15: 41,729,555 (GRCm39) |
R282C |
probably damaging |
Het |
| Adcy2 |
T |
A |
13: 68,882,794 (GRCm39) |
E314D |
possibly damaging |
Het |
| Adgrl2 |
A |
T |
3: 148,523,402 (GRCm39) |
I274N |
|
Het |
| Adpgk |
A |
G |
9: 59,221,069 (GRCm39) |
I292V |
probably benign |
Het |
| Agtrap |
G |
T |
4: 148,165,054 (GRCm39) |
F124L |
probably benign |
Het |
| Ankrd26 |
A |
G |
6: 118,485,525 (GRCm39) |
Y1450H |
probably damaging |
Het |
| Ap4e1 |
A |
T |
2: 126,903,896 (GRCm39) |
S933C |
probably damaging |
Het |
| Ap4e1 |
G |
T |
2: 126,903,897 (GRCm39) |
S933I |
possibly damaging |
Het |
| Ap5s1 |
A |
T |
2: 131,054,572 (GRCm39) |
T128S |
possibly damaging |
Het |
| Arih1 |
T |
C |
9: 59,393,341 (GRCm39) |
Y97C |
probably damaging |
Het |
| Atp1a3 |
A |
G |
7: 24,678,251 (GRCm39) |
F1034S |
unknown |
Het |
| Bmp6 |
T |
C |
13: 38,669,879 (GRCm39) |
S388P |
probably benign |
Het |
| Ccdc39 |
A |
G |
3: 33,886,825 (GRCm39) |
V261A |
possibly damaging |
Het |
| Ccdc66 |
C |
T |
14: 27,222,293 (GRCm39) |
C150Y |
probably damaging |
Het |
| Cep89 |
G |
A |
7: 35,129,353 (GRCm39) |
R630H |
probably damaging |
Het |
| Cln6 |
A |
G |
9: 62,756,458 (GRCm39) |
S201G |
probably benign |
Het |
| Cntnap4 |
T |
C |
8: 113,391,909 (GRCm39) |
Y125H |
probably damaging |
Het |
| Copa |
A |
G |
1: 171,929,790 (GRCm39) |
T286A |
possibly damaging |
Het |
| Cul9 |
A |
T |
17: 46,821,919 (GRCm39) |
I1852K |
possibly damaging |
Het |
| Cyp2j8 |
C |
A |
4: 96,332,877 (GRCm39) |
A490S |
probably benign |
Het |
| Cyp2t4 |
A |
G |
7: 26,856,676 (GRCm39) |
I239V |
probably benign |
Het |
| Dpcd |
A |
G |
19: 45,560,905 (GRCm39) |
Y111C |
probably damaging |
Het |
| E2f7 |
C |
T |
10: 110,616,836 (GRCm39) |
T692I |
probably damaging |
Het |
| Fastkd5 |
A |
G |
2: 130,457,055 (GRCm39) |
Y512H |
probably damaging |
Het |
| Fastkd5 |
A |
C |
2: 130,458,359 (GRCm39) |
M77R |
probably benign |
Het |
| Fhod3 |
A |
G |
18: 25,223,524 (GRCm39) |
R957G |
possibly damaging |
Het |
| H6pd |
C |
A |
4: 150,068,359 (GRCm39) |
|
probably null |
Het |
| Haus5 |
G |
T |
7: 30,356,391 (GRCm39) |
P544Q |
possibly damaging |
Het |
| Ifi207 |
CTGTTGATGAAGTTGCATGTGGAGCCAGGAGGTTGCTAGATGTTGTTGATAGAGTTGCATGTGGAGCCAGGAGGTTGCTAGATGTTGTTGATAGAGTTGCATGTGGAGCCAGGAGGTTGCTAGATGCTGTTGATACAGTTGCTTGTGGAGCCAGGAGGTTGCTAGATGCTGTTGATAGAGTTGCATATGGAGCCAGGAGGATGCTATATGTTGTTGATGAAGTTGCATGTGGAGCCAGGAG |
CTGTTGATAGAGTTGCATGTGGAGCCAGGAGGTTGCTAGATGTTGTTGATAGAGTTGCATGTGGAGCCAGGAGGTTGCTAGATGCTGTTGATACAGTTGCTTGTGGAGCCAGGAGGTTGCTAGATGCTGTTGATAGAGTTGCATATGGAGCCAGGAGGATGCTATATGTTGTTGATGAAGTTGCATGTGGAGCCAGGAG |
1: 173,556,762 (GRCm39) |
|
probably benign |
Het |
| Igf2r |
A |
G |
17: 12,922,371 (GRCm39) |
Y1248H |
probably damaging |
Het |
| Izumo3 |
T |
C |
4: 92,035,455 (GRCm39) |
N6S |
possibly damaging |
Het |
| Lrp6 |
G |
T |
6: 134,427,781 (GRCm39) |
P1604T |
probably damaging |
Het |
| Map3k8 |
T |
A |
18: 4,340,561 (GRCm39) |
H251L |
probably damaging |
Het |
| Mapre3 |
T |
C |
5: 31,019,173 (GRCm39) |
Y6H |
probably benign |
Het |
| Mlh3 |
G |
T |
12: 85,314,215 (GRCm39) |
P657Q |
probably damaging |
Het |
| Mrgpra1 |
T |
C |
7: 46,985,157 (GRCm39) |
Y174C |
probably benign |
Het |
| Ms4a6d |
G |
A |
19: 11,567,437 (GRCm39) |
Q155* |
probably null |
Het |
| Myh1 |
C |
A |
11: 67,093,365 (GRCm39) |
P152Q |
probably damaging |
Het |
| Myh6 |
A |
T |
14: 55,189,716 (GRCm39) |
L1110Q |
probably damaging |
Het |
| Nf1 |
T |
A |
11: 79,427,676 (GRCm39) |
S1778T |
probably benign |
Het |
| Nkpd1 |
G |
A |
7: 19,258,341 (GRCm39) |
E707K |
probably damaging |
Het |
| Nlrp4a |
A |
G |
7: 26,143,698 (GRCm39) |
E21G |
probably damaging |
Het |
| Nr4a3 |
T |
G |
4: 48,051,290 (GRCm39) |
S15A |
possibly damaging |
Het |
| Or2f1 |
T |
C |
6: 42,721,790 (GRCm39) |
L273S |
possibly damaging |
Het |
| Or5p1 |
T |
C |
7: 107,916,920 (GRCm39) |
V273A |
possibly damaging |
Het |
| Or5p64 |
T |
C |
7: 107,855,330 (GRCm39) |
D5G |
probably benign |
Het |
| Or7a38 |
A |
G |
10: 78,753,396 (GRCm39) |
T241A |
probably damaging |
Het |
| Parg |
G |
A |
14: 31,972,036 (GRCm39) |
R677Q |
possibly damaging |
Het |
| Pcsk5 |
A |
T |
19: 17,434,182 (GRCm39) |
C1395* |
probably null |
Het |
| Psd2 |
G |
A |
18: 36,113,389 (GRCm39) |
S287N |
possibly damaging |
Het |
| Psd3 |
T |
C |
8: 68,243,583 (GRCm39) |
N685S |
possibly damaging |
Het |
| Pygb |
C |
T |
2: 150,628,903 (GRCm39) |
T39M |
probably benign |
Het |
| Rbfox1 |
C |
A |
16: 7,225,888 (GRCm39) |
Y351* |
probably null |
Het |
| Rftn1 |
A |
G |
17: 50,311,351 (GRCm39) |
L396P |
probably damaging |
Het |
| S1pr1 |
A |
G |
3: 115,505,710 (GRCm39) |
Y295H |
probably damaging |
Het |
| Scn5a |
T |
C |
9: 119,364,899 (GRCm39) |
M440V |
probably benign |
Het |
| Sel1l2 |
T |
C |
2: 140,107,644 (GRCm39) |
N240S |
probably benign |
Het |
| Skic3 |
T |
C |
13: 76,331,003 (GRCm39) |
F1478L |
possibly damaging |
Het |
| Skint1 |
T |
C |
4: 111,878,770 (GRCm39) |
L234P |
probably damaging |
Het |
| Skint11 |
T |
A |
4: 114,101,919 (GRCm39) |
Y311N |
probably benign |
Het |
| Slc6a5 |
A |
T |
7: 49,559,915 (GRCm39) |
|
probably benign |
Het |
| Tas2r134 |
T |
C |
2: 51,518,414 (GRCm39) |
S298P |
possibly damaging |
Het |
| Tbcd |
C |
A |
11: 121,485,137 (GRCm39) |
A773D |
probably benign |
Het |
| Tgoln1 |
G |
C |
6: 72,593,261 (GRCm39) |
T73R |
probably benign |
Het |
| Tmem184a |
T |
C |
5: 139,799,809 (GRCm39) |
E24G |
probably null |
Het |
| Tmem207 |
C |
A |
16: 26,335,577 (GRCm39) |
W53C |
possibly damaging |
Het |
| Tns1 |
T |
A |
1: 73,956,076 (GRCm39) |
H549L |
possibly damaging |
Het |
| Ufd1 |
T |
G |
16: 18,634,635 (GRCm39) |
|
probably benign |
Het |
| Usp28 |
A |
G |
9: 48,942,177 (GRCm39) |
E713G |
probably benign |
Het |
| Utrn |
A |
G |
10: 12,623,762 (GRCm39) |
W159R |
probably damaging |
Het |
| Vcl |
C |
T |
14: 21,053,218 (GRCm39) |
A411V |
probably benign |
Het |
| Vcl |
T |
A |
14: 21,059,020 (GRCm39) |
C545* |
probably null |
Het |
| Vmn1r120 |
A |
T |
7: 20,787,377 (GRCm39) |
S111R |
probably damaging |
Het |
| Wwox |
T |
A |
8: 115,199,392 (GRCm39) |
C146S |
probably benign |
Het |
| Zbtb2 |
T |
C |
10: 4,324,574 (GRCm39) |
T57A |
possibly damaging |
Het |
| Zfp362 |
T |
C |
4: 128,671,010 (GRCm39) |
D336G |
possibly damaging |
Het |
| Zfp628 |
G |
A |
7: 4,924,817 (GRCm39) |
G1013E |
probably damaging |
Het |
| Zfp704 |
A |
G |
3: 9,539,658 (GRCm39) |
S231P |
probably damaging |
Het |
| Zhx3 |
G |
T |
2: 160,624,038 (GRCm39) |
S43* |
probably null |
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 |
|
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'- TCGGGCACACTGAGAAACCTAG -3'
(R):5'- AACACTGTAGCTTCCTCTCTGG -3'
Sequencing Primer
(F):5'- CCTAGAGTCCTAGAGTGGGATTAAGC -3'
(R):5'- TCTCTGGTGAGCAAATGCAC -3'
|
| Posted On |
2019-09-13 |
Incidental Mutation