Incidental Mutation 'R4885:Ttc41'
ID |
375646 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Ttc41
|
Ensembl Gene |
ENSMUSG00000044937 |
Gene Name |
tetratricopeptide repeat domain 41 |
Synonyms |
BC030307, Gnn |
MMRRC Submission |
042851-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.126)
|
Stock # |
R4885 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
10 |
Chromosomal Location |
86541675-86612708 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to G
at 86594966 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Asparagine to Lysine
at position 913
(N913K)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000075059
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000075632]
|
AlphaFold |
no structure available at present |
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000075632
AA Change: N913K
PolyPhen 2
Score 0.759 (Sensitivity: 0.85; Specificity: 0.92)
|
SMART Domains |
Protein: ENSMUSP00000075059 Gene: ENSMUSG00000044937 AA Change: N913K
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: ENSMUST00000218802
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000219070
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000219476
|
Meta Mutation Damage Score |
0.1795 |
Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.5%
- 10x: 96.7%
- 20x: 93.6%
|
Validation Efficiency |
99% (77/78) |
Allele List at MGI |
|
Other mutations in this stock |
Total: 72 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abcf3 |
A |
G |
16: 20,370,425 (GRCm39) |
T317A |
probably benign |
Het |
Adck1 |
G |
A |
12: 88,407,865 (GRCm39) |
A199T |
probably benign |
Het |
Adgrb1 |
A |
T |
15: 74,444,011 (GRCm39) |
M1038L |
probably benign |
Het |
Anapc10 |
C |
T |
8: 80,455,779 (GRCm39) |
T76I |
probably benign |
Het |
Atosa |
T |
C |
9: 74,913,649 (GRCm39) |
L94P |
probably damaging |
Het |
Bptf |
C |
T |
11: 106,965,474 (GRCm39) |
S1177N |
probably benign |
Het |
Bsn |
A |
T |
9: 107,984,726 (GRCm39) |
Y337* |
probably null |
Het |
Ccl20 |
T |
A |
1: 83,095,580 (GRCm39) |
V48E |
possibly damaging |
Het |
Ccnl1 |
C |
T |
3: 65,864,320 (GRCm39) |
D122N |
probably damaging |
Het |
Chat |
C |
G |
14: 32,176,567 (GRCm39) |
G69A |
probably damaging |
Het |
Cr2 |
T |
A |
1: 194,841,039 (GRCm39) |
I418F |
possibly damaging |
Het |
Dmxl1 |
G |
C |
18: 50,011,862 (GRCm39) |
A1340P |
probably damaging |
Het |
Eef2k |
G |
A |
7: 120,491,155 (GRCm39) |
R547Q |
probably benign |
Het |
Eml2 |
G |
A |
7: 18,937,935 (GRCm39) |
S793N |
probably benign |
Het |
Enox1 |
T |
A |
14: 77,958,290 (GRCm39) |
L632Q |
probably damaging |
Het |
Fabp9 |
T |
C |
3: 10,259,738 (GRCm39) |
K92E |
probably damaging |
Het |
Fam234a |
T |
C |
17: 26,432,559 (GRCm39) |
H530R |
probably benign |
Het |
Fancm |
C |
T |
12: 65,149,417 (GRCm39) |
Q728* |
probably null |
Het |
Fgd3 |
G |
A |
13: 49,417,465 (GRCm39) |
T666M |
possibly damaging |
Het |
Foxs1 |
T |
C |
2: 152,774,301 (GRCm39) |
M251V |
probably benign |
Het |
Fsip2 |
A |
T |
2: 82,818,438 (GRCm39) |
M4724L |
probably benign |
Het |
Gemin6 |
G |
A |
17: 80,535,327 (GRCm39) |
E96K |
probably damaging |
Het |
Gfi1 |
C |
A |
5: 107,871,152 (GRCm39) |
V80F |
probably damaging |
Het |
H3c13 |
G |
T |
3: 96,176,277 (GRCm39) |
V90F |
possibly damaging |
Het |
Hectd1 |
A |
G |
12: 51,847,505 (GRCm39) |
V442A |
probably damaging |
Het |
Ift80 |
A |
G |
3: 68,857,829 (GRCm39) |
I272T |
probably damaging |
Het |
Impact |
C |
G |
18: 13,119,430 (GRCm39) |
A214G |
probably damaging |
Het |
Insl6 |
C |
T |
19: 29,302,556 (GRCm39) |
E54K |
probably benign |
Het |
Irak3 |
T |
A |
10: 120,018,586 (GRCm39) |
D54V |
probably damaging |
Het |
Itk |
C |
T |
11: 46,227,171 (GRCm39) |
|
probably null |
Het |
Ivl |
A |
T |
3: 92,479,718 (GRCm39) |
C116S |
probably benign |
Het |
Kcnq4 |
G |
A |
4: 120,570,260 (GRCm39) |
A361V |
probably benign |
Het |
L1td1 |
C |
T |
4: 98,625,548 (GRCm39) |
P581L |
probably benign |
Het |
Lrp1b |
T |
C |
2: 41,358,905 (GRCm39) |
E656G |
probably benign |
Het |
Macrod2 |
A |
G |
2: 140,261,985 (GRCm39) |
T89A |
possibly damaging |
Het |
Mettl13 |
T |
C |
1: 162,364,837 (GRCm39) |
D514G |
probably damaging |
Het |
Mfsd13b |
A |
T |
7: 120,590,711 (GRCm39) |
I151F |
possibly damaging |
Het |
Mical3 |
G |
A |
6: 120,912,214 (GRCm39) |
P1882S |
probably damaging |
Het |
Mycbp2 |
T |
C |
14: 103,383,382 (GRCm39) |
E394G |
possibly damaging |
Het |
Myo16 |
T |
A |
8: 10,488,892 (GRCm39) |
S688T |
probably damaging |
Het |
Neb |
T |
C |
2: 52,176,058 (GRCm39) |
Y1467C |
probably damaging |
Het |
Nhsl3 |
C |
T |
4: 129,118,238 (GRCm39) |
R214Q |
probably damaging |
Het |
Nkx6-3 |
C |
A |
8: 23,643,914 (GRCm39) |
P105Q |
possibly damaging |
Het |
Nlrp1b |
T |
C |
11: 71,108,710 (GRCm39) |
T264A |
possibly damaging |
Het |
Nnat |
G |
A |
2: 157,403,678 (GRCm39) |
C122Y |
probably damaging |
Het |
Notch3 |
G |
A |
17: 32,360,351 (GRCm39) |
R1527C |
probably damaging |
Het |
Or2y16 |
C |
T |
11: 49,335,449 (GRCm39) |
T257I |
probably damaging |
Het |
Or5an1c |
T |
G |
19: 12,218,082 (GRCm39) |
|
probably null |
Het |
Or5h18 |
A |
G |
16: 58,847,518 (GRCm39) |
Y251H |
probably damaging |
Het |
Pds5b |
C |
T |
5: 150,639,927 (GRCm39) |
T14I |
probably benign |
Het |
Phf19 |
A |
T |
2: 34,789,718 (GRCm39) |
I334N |
probably damaging |
Het |
Pik3ap1 |
T |
C |
19: 41,364,365 (GRCm39) |
D118G |
probably benign |
Het |
Pkhd1 |
T |
A |
1: 20,140,712 (GRCm39) |
E3886V |
possibly damaging |
Het |
Pkp1 |
A |
G |
1: 135,846,690 (GRCm39) |
S21P |
possibly damaging |
Het |
Pramel32 |
T |
A |
4: 88,546,219 (GRCm39) |
L374F |
possibly damaging |
Het |
Rack1 |
C |
A |
11: 48,696,463 (GRCm39) |
A290E |
probably damaging |
Het |
Rbm15 |
A |
G |
3: 107,239,570 (GRCm39) |
V276A |
probably benign |
Het |
Rnf216 |
A |
T |
5: 143,076,335 (GRCm39) |
L183* |
probably null |
Het |
Sc5d |
T |
C |
9: 42,166,922 (GRCm39) |
I206V |
probably benign |
Het |
Scpep1 |
A |
G |
11: 88,826,737 (GRCm39) |
I233T |
probably benign |
Het |
Sh3pxd2a |
A |
G |
19: 47,257,132 (GRCm39) |
Y529H |
probably damaging |
Het |
Slc1a4 |
A |
C |
11: 20,254,384 (GRCm39) |
V494G |
probably damaging |
Het |
Slc38a7 |
T |
C |
8: 96,575,230 (GRCm39) |
T17A |
probably benign |
Het |
Smg6 |
T |
C |
11: 74,932,744 (GRCm39) |
S73P |
probably damaging |
Het |
Stk32b |
T |
C |
5: 37,624,141 (GRCm39) |
Y202C |
probably damaging |
Het |
Tas2r140 |
A |
G |
6: 40,468,334 (GRCm39) |
S55G |
probably damaging |
Het |
Tcf12 |
C |
T |
9: 71,766,122 (GRCm39) |
G504S |
probably null |
Het |
Ttc3 |
G |
C |
16: 94,227,690 (GRCm39) |
|
probably null |
Het |
Ttc3 |
T |
C |
16: 94,220,324 (GRCm39) |
I568T |
probably damaging |
Het |
Vrk1 |
G |
A |
12: 106,024,231 (GRCm39) |
V236M |
probably damaging |
Het |
Wscd1 |
C |
T |
11: 71,650,972 (GRCm39) |
R100C |
probably damaging |
Het |
Zc3h18 |
C |
T |
8: 123,128,445 (GRCm39) |
|
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 |
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'- AGATGCTTTGTATGCAAACAAACC -3'
(R):5'- AGTTATGTGGGAGATGTGGTAAC -3'
Sequencing Primer
(F):5'- ACCCTATTCAGTGTAGATCAGGG -3'
(R):5'- TGTGGGAATTGAACCTAGGACTTCAC -3'
|
Posted On |
2016-03-17 |