Incidental Mutation 'R7170:Ttc41'
ID |
558202 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Ttc41
|
Ensembl Gene |
ENSMUSG00000044937 |
Gene Name |
tetratricopeptide repeat domain 41 |
Synonyms |
BC030307, Gnn |
MMRRC Submission |
045332-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.115)
|
Stock # |
R7170 (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 T
at 86549367 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Serine to Leucine
at position 187
(S187L)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000075059
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000061458]
[ENSMUST00000075632]
[ENSMUST00000217747]
[ENSMUST00000219108]
|
AlphaFold |
no structure available at present |
Predicted Effect |
probably benign
Transcript: ENSMUST00000061458
AA Change: S187L
PolyPhen 2
Score 0.113 (Sensitivity: 0.93; Specificity: 0.86)
|
SMART Domains |
Protein: ENSMUSP00000062844 Gene: ENSMUSG00000044937 AA Change: S187L
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 |
probably benign
Transcript: ENSMUST00000075632
AA Change: S187L
PolyPhen 2
Score 0.175 (Sensitivity: 0.92; Specificity: 0.87)
|
SMART Domains |
Protein: ENSMUSP00000075059 Gene: ENSMUSG00000044937 AA Change: S187L
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: ENSMUST00000217747
AA Change: S187L
PolyPhen 2
Score 0.113 (Sensitivity: 0.93; Specificity: 0.86)
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000219108
AA Change: S187L
PolyPhen 2
Score 0.015 (Sensitivity: 0.96; Specificity: 0.79)
|
Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.7%
- 20x: 99.0%
|
Validation Efficiency |
100% (81/81) |
Allele List at MGI |
|
Other mutations in this stock |
Total: 79 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abca8b |
T |
C |
11: 109,836,654 (GRCm39) |
T1214A |
probably benign |
Het |
Acte1 |
T |
C |
7: 143,450,102 (GRCm39) |
S285P |
probably damaging |
Het |
Adgrf5 |
G |
A |
17: 43,757,029 (GRCm39) |
V708M |
possibly damaging |
Het |
Akap9 |
C |
G |
5: 4,018,745 (GRCm39) |
H1109D |
probably benign |
Het |
Ankrd7 |
T |
A |
6: 18,868,389 (GRCm39) |
Y170* |
probably null |
Het |
Aplp2 |
T |
C |
9: 31,081,739 (GRCm39) |
D236G |
probably benign |
Het |
Apoa5 |
T |
C |
9: 46,181,437 (GRCm39) |
M171T |
probably benign |
Het |
Bcas3 |
T |
C |
11: 85,386,744 (GRCm39) |
V393A |
probably damaging |
Het |
Ccdc47 |
T |
C |
11: 106,093,304 (GRCm39) |
N370S |
probably benign |
Het |
Cfap77 |
A |
T |
2: 28,875,854 (GRCm39) |
Y85* |
probably null |
Het |
Col4a3 |
G |
A |
1: 82,693,630 (GRCm39) |
|
probably null |
Het |
Crnn |
T |
A |
3: 93,056,020 (GRCm39) |
S269T |
possibly damaging |
Het |
Crocc2 |
G |
A |
1: 93,121,704 (GRCm39) |
A618T |
possibly damaging |
Het |
D030056L22Rik |
A |
G |
19: 18,690,737 (GRCm39) |
K17R |
possibly damaging |
Het |
Emx1 |
G |
A |
6: 85,164,983 (GRCm39) |
G20D |
probably benign |
Het |
Fabp3 |
A |
G |
4: 130,207,763 (GRCm39) |
D88G |
probably benign |
Het |
Fam124a |
A |
C |
14: 62,824,629 (GRCm39) |
D41A |
probably damaging |
Het |
Fanca |
T |
C |
8: 123,997,945 (GRCm39) |
E1247G |
probably damaging |
Het |
Fat3 |
T |
C |
9: 15,917,870 (GRCm39) |
R1518G |
probably damaging |
Het |
Fgf12 |
T |
C |
16: 28,263,931 (GRCm39) |
I5V |
probably benign |
Het |
Fscn2 |
C |
A |
11: 120,253,335 (GRCm39) |
N267K |
probably damaging |
Het |
Ftdc1 |
G |
T |
16: 58,436,091 (GRCm39) |
C77* |
probably null |
Het |
Fubp3 |
A |
G |
2: 31,488,632 (GRCm39) |
T163A |
probably benign |
Het |
Gask1a |
G |
T |
9: 121,807,301 (GRCm39) |
A482S |
probably damaging |
Het |
Gne |
A |
G |
4: 44,040,361 (GRCm39) |
L601P |
possibly damaging |
Het |
Gphn |
T |
C |
12: 78,730,663 (GRCm39) |
V766A |
possibly damaging |
Het |
Hsf1 |
G |
T |
15: 76,384,221 (GRCm39) |
G402C |
probably damaging |
Het |
Ift81 |
A |
T |
5: 122,693,596 (GRCm39) |
Y604* |
probably null |
Het |
Iqgap3 |
T |
A |
3: 88,009,370 (GRCm39) |
I768N |
probably damaging |
Het |
Kazald1 |
A |
T |
19: 45,066,855 (GRCm39) |
D218V |
probably benign |
Het |
Kmt2a |
T |
C |
9: 44,722,018 (GRCm39) |
N3776D |
unknown |
Het |
Ktn1 |
T |
C |
14: 47,943,867 (GRCm39) |
L872S |
probably damaging |
Het |
Lama3 |
T |
G |
18: 12,537,133 (GRCm39) |
F259L |
probably benign |
Het |
Mfsd6 |
A |
G |
1: 52,701,547 (GRCm39) |
|
probably null |
Het |
Mical3 |
A |
T |
6: 120,950,694 (GRCm39) |
|
probably null |
Het |
Mob3b |
A |
G |
4: 35,083,839 (GRCm39) |
Y117H |
probably damaging |
Het |
Mrpl2 |
G |
A |
17: 46,959,181 (GRCm39) |
G95D |
probably damaging |
Het |
Mstn |
A |
T |
1: 53,105,554 (GRCm39) |
I299F |
probably damaging |
Het |
Mta3 |
C |
T |
17: 84,022,091 (GRCm39) |
R49W |
probably damaging |
Het |
Mylk3 |
A |
G |
8: 86,077,114 (GRCm39) |
F574L |
probably damaging |
Het |
Naca |
T |
A |
10: 127,875,990 (GRCm39) |
S341T |
unknown |
Het |
Ncoa1 |
T |
C |
12: 4,299,722 (GRCm39) |
D1401G |
probably benign |
Het |
Nedd4 |
T |
A |
9: 72,577,381 (GRCm39) |
Y69N |
probably benign |
Het |
Nin |
T |
C |
12: 70,091,013 (GRCm39) |
T801A |
|
Het |
Nsd1 |
T |
A |
13: 55,409,439 (GRCm39) |
L1336* |
probably null |
Het |
Nudt16l2 |
C |
A |
9: 105,020,600 (GRCm39) |
|
probably null |
Het |
Oprk1 |
G |
A |
1: 5,672,619 (GRCm39) |
R252H |
probably damaging |
Het |
Or4c10b |
A |
T |
2: 89,711,397 (GRCm39) |
T76S |
possibly damaging |
Het |
Or4c10b |
A |
G |
2: 89,711,185 (GRCm39) |
N5S |
probably benign |
Het |
Or5w15 |
C |
T |
2: 87,568,056 (GRCm39) |
G204D |
probably damaging |
Het |
Pcdhga11 |
T |
C |
18: 37,889,717 (GRCm39) |
F242L |
probably damaging |
Het |
Pof1b |
A |
G |
X: 111,554,042 (GRCm39) |
I544T |
probably benign |
Het |
Pold1 |
T |
C |
7: 44,191,572 (GRCm39) |
H138R |
possibly damaging |
Het |
Ptprd |
A |
T |
4: 75,990,199 (GRCm39) |
D504E |
probably benign |
Het |
Rabgap1l |
A |
G |
1: 160,472,935 (GRCm39) |
V501A |
probably damaging |
Het |
Rimklb |
T |
C |
6: 122,429,697 (GRCm39) |
N233S |
probably benign |
Het |
Rnf213 |
A |
G |
11: 119,343,401 (GRCm39) |
I3589V |
|
Het |
Rora |
T |
A |
9: 69,280,472 (GRCm39) |
C348* |
probably null |
Het |
Sdhaf3 |
T |
C |
6: 6,956,043 (GRCm39) |
V6A |
probably benign |
Het |
Serpina3m |
T |
A |
12: 104,355,777 (GRCm39) |
L148Q |
probably damaging |
Het |
Sik1 |
T |
C |
17: 32,067,746 (GRCm39) |
D443G |
possibly damaging |
Het |
Sim2 |
A |
G |
16: 93,923,559 (GRCm39) |
T366A |
probably benign |
Het |
Slc32a1 |
T |
C |
2: 158,453,243 (GRCm39) |
F28L |
probably damaging |
Het |
Sorbs1 |
A |
T |
19: 40,314,573 (GRCm39) |
Y746* |
probably null |
Het |
Speer4b |
T |
A |
5: 27,703,821 (GRCm39) |
N106I |
possibly damaging |
Het |
Sphkap |
A |
G |
1: 83,243,706 (GRCm39) |
S1269P |
probably damaging |
Het |
Tcf4 |
T |
C |
18: 69,766,649 (GRCm39) |
V205A |
probably damaging |
Het |
Thsd7a |
C |
T |
6: 12,352,090 (GRCm39) |
R1035H |
|
Het |
Tmprss11c |
A |
T |
5: 86,385,478 (GRCm39) |
|
probably null |
Het |
Trim50 |
A |
G |
5: 135,396,365 (GRCm39) |
T438A |
probably benign |
Het |
Ttc21a |
C |
T |
9: 119,774,607 (GRCm39) |
P287L |
probably damaging |
Het |
Ttll3 |
C |
T |
6: 113,390,839 (GRCm39) |
P807L |
probably benign |
Het |
Ttn |
A |
C |
2: 76,597,696 (GRCm39) |
V19739G |
probably benign |
Het |
Usp15 |
C |
A |
10: 123,007,100 (GRCm39) |
C127F |
probably damaging |
Het |
Vmn2r100 |
G |
T |
17: 19,752,233 (GRCm39) |
A822S |
probably benign |
Het |
Zan |
A |
T |
5: 137,461,756 (GRCm39) |
V1141D |
unknown |
Het |
Zfp457 |
A |
T |
13: 67,442,241 (GRCm39) |
C111* |
probably null |
Het |
Zfp758 |
C |
T |
17: 22,594,116 (GRCm39) |
Q201* |
probably null |
Het |
Zkscan2 |
T |
C |
7: 123,099,030 (GRCm39) |
E54G |
possibly 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 |
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'- GAGATTTCCTCCCCGACTACAC -3'
(R):5'- GAGCTTTTCCACAACAGCCG -3'
Sequencing Primer
(F):5'- CTGTTATCCCAAGTGAAGGACTTCG -3'
(R):5'- AGCCGACCAGTCCTTCC -3'
|
Posted On |
2019-06-26 |