Incidental Mutation 'R1670:Ttc41'
| ID |
187562 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Ttc41
|
| Ensembl Gene |
ENSMUSG00000044937 |
| Gene Name |
tetratricopeptide repeat domain 41 |
| Synonyms |
BC030307, Gnn |
| MMRRC Submission |
039706-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.115)
|
| Stock # |
R1670 (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 86612116 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Tryptophan to Arginine
at position 1130
(W1130R)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000075059
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000075632]
[ENSMUST00000099396]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000075632
AA Change: W1130R
PolyPhen 2
Score 0.925 (Sensitivity: 0.81; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000075059
Gene: ENSMUSG00000044937
AA Change: W1130R
| 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: ENSMUST00000099396
|
| SMART Domains |
Protein: ENSMUSP00000096994
Gene: ENSMUSG00000054027
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
5 |
25 |
N/A |
INTRINSIC |
|
Pfam:5_nucleotid
|
83 |
526 |
1.8e-159 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000218802
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000219476
|
| Meta Mutation Damage Score |
0.1795 |
| Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.3%
- 10x: 96.3%
- 20x: 92.3%
|
| Validation Efficiency |
97% (74/76) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 74 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abcc9 |
A |
G |
6: 142,540,448 (GRCm39) |
V1497A |
possibly damaging |
Het |
| Adam15 |
T |
C |
3: 89,255,817 (GRCm39) |
|
probably benign |
Het |
| Angel2 |
T |
A |
1: 190,674,360 (GRCm39) |
S371T |
probably benign |
Het |
| Atr |
T |
A |
9: 95,743,509 (GRCm39) |
N49K |
probably benign |
Het |
| Bace2 |
G |
A |
16: 97,213,335 (GRCm39) |
M228I |
probably damaging |
Het |
| Bdp1 |
A |
C |
13: 100,163,941 (GRCm39) |
|
probably null |
Het |
| Calr |
A |
T |
8: 85,570,748 (GRCm39) |
D302E |
probably benign |
Het |
| Camta1 |
T |
C |
4: 151,164,228 (GRCm39) |
D340G |
probably benign |
Het |
| Car11 |
C |
T |
7: 45,352,949 (GRCm39) |
T236I |
possibly damaging |
Het |
| Cfap69 |
A |
T |
5: 5,636,409 (GRCm39) |
S275T |
probably benign |
Het |
| Cib2 |
G |
A |
9: 54,455,653 (GRCm39) |
R104W |
probably damaging |
Het |
| CN725425 |
T |
C |
15: 91,130,018 (GRCm39) |
S294P |
possibly damaging |
Het |
| Coro7 |
G |
A |
16: 4,446,097 (GRCm39) |
S876F |
possibly damaging |
Het |
| Cspg4 |
G |
A |
9: 56,804,687 (GRCm39) |
V1833M |
probably damaging |
Het |
| Dennd6b |
C |
A |
15: 89,069,540 (GRCm39) |
|
probably benign |
Het |
| Dhx30 |
A |
T |
9: 109,914,341 (GRCm39) |
Y979N |
possibly damaging |
Het |
| Dnaaf9 |
G |
A |
2: 130,554,299 (GRCm39) |
P187S |
probably damaging |
Het |
| Dnah8 |
A |
T |
17: 30,944,098 (GRCm39) |
I1772F |
probably damaging |
Het |
| Dync2h1 |
A |
T |
9: 6,993,942 (GRCm39) |
I3976N |
possibly damaging |
Het |
| Ebi3 |
T |
C |
17: 56,261,479 (GRCm39) |
I125T |
probably damaging |
Het |
| Elfn2 |
C |
T |
15: 78,556,568 (GRCm39) |
A660T |
probably benign |
Het |
| F12 |
C |
T |
13: 55,569,346 (GRCm39) |
C209Y |
probably damaging |
Het |
| Fabp3 |
C |
T |
4: 130,206,180 (GRCm39) |
T57I |
probably benign |
Het |
| Fgfr2 |
T |
A |
7: 129,782,187 (GRCm39) |
D413V |
probably damaging |
Het |
| Gdf10 |
T |
A |
14: 33,654,000 (GRCm39) |
I169N |
possibly damaging |
Het |
| Gdnf |
T |
C |
15: 7,845,130 (GRCm39) |
V41A |
probably benign |
Het |
| Gm9857 |
A |
T |
3: 108,847,478 (GRCm39) |
|
probably benign |
Het |
| Gpatch11 |
A |
G |
17: 79,146,529 (GRCm39) |
E58G |
possibly damaging |
Het |
| Gpr55 |
A |
G |
1: 85,869,137 (GRCm39) |
V148A |
possibly damaging |
Het |
| Gucy1b1 |
A |
G |
3: 81,952,767 (GRCm39) |
I222T |
probably benign |
Het |
| Hnf4a |
T |
C |
2: 163,404,496 (GRCm39) |
S227P |
probably damaging |
Het |
| Hsfy2 |
A |
G |
1: 56,675,548 (GRCm39) |
S330P |
possibly damaging |
Het |
| Hycc1 |
T |
A |
5: 24,204,989 (GRCm39) |
M1L |
possibly damaging |
Het |
| Ift122 |
T |
C |
6: 115,900,844 (GRCm39) |
V1054A |
probably benign |
Het |
| Il27 |
T |
A |
7: 126,188,647 (GRCm39) |
E175D |
probably benign |
Het |
| Lactb2 |
A |
T |
1: 13,730,641 (GRCm39) |
S12T |
probably damaging |
Het |
| Lrfn2 |
T |
C |
17: 49,403,605 (GRCm39) |
V576A |
probably benign |
Het |
| Mansc4 |
C |
G |
6: 146,976,689 (GRCm39) |
R309T |
possibly damaging |
Het |
| Med12l |
AACAGCA |
AACAGCAACAGCA |
3: 59,183,379 (GRCm39) |
|
probably benign |
Het |
| Mrpl16 |
C |
T |
19: 11,751,959 (GRCm39) |
R240* |
probably null |
Het |
| Muc17 |
A |
G |
5: 137,172,843 (GRCm39) |
V70A |
probably benign |
Het |
| Ndnf |
A |
G |
6: 65,680,054 (GRCm39) |
D111G |
probably benign |
Het |
| Nek4 |
T |
C |
14: 30,704,384 (GRCm39) |
F688S |
probably damaging |
Het |
| Nkx2-6 |
T |
A |
14: 69,412,126 (GRCm39) |
M98K |
probably benign |
Het |
| Nup188 |
T |
C |
2: 30,230,667 (GRCm39) |
S1402P |
probably benign |
Het |
| Or10j2 |
T |
A |
1: 173,098,467 (GRCm39) |
S242T |
probably damaging |
Het |
| Or2t48 |
A |
T |
11: 58,420,237 (GRCm39) |
S192T |
probably damaging |
Het |
| Or4f14b |
C |
T |
2: 111,775,264 (GRCm39) |
C179Y |
probably damaging |
Het |
| Or52i2 |
A |
G |
7: 102,319,609 (GRCm39) |
T161A |
possibly damaging |
Het |
| Or5ac23 |
A |
T |
16: 59,149,607 (GRCm39) |
N88K |
probably benign |
Het |
| Or5ac24 |
T |
C |
16: 59,165,790 (GRCm39) |
I91M |
possibly damaging |
Het |
| Or5m9b |
T |
A |
2: 85,905,594 (GRCm39) |
V170D |
probably benign |
Het |
| Parp10 |
A |
T |
15: 76,126,270 (GRCm39) |
V306E |
probably benign |
Het |
| Pcnx3 |
A |
G |
19: 5,723,343 (GRCm39) |
L1284P |
probably damaging |
Het |
| Pld1 |
A |
T |
3: 28,103,389 (GRCm39) |
I365F |
probably benign |
Het |
| Pnisr |
A |
G |
4: 21,865,893 (GRCm39) |
D294G |
probably damaging |
Het |
| Pogz |
C |
T |
3: 94,786,160 (GRCm39) |
T863I |
probably benign |
Het |
| Ptprn2 |
A |
C |
12: 116,685,792 (GRCm39) |
T84P |
possibly damaging |
Het |
| Rln1 |
C |
T |
19: 29,309,468 (GRCm39) |
E104K |
possibly damaging |
Het |
| Rnf38 |
A |
G |
4: 44,138,681 (GRCm39) |
S271P |
probably damaging |
Het |
| Rngtt |
A |
G |
4: 33,368,660 (GRCm39) |
T398A |
probably benign |
Het |
| Rprd2 |
G |
T |
3: 95,672,115 (GRCm39) |
T1096K |
probably damaging |
Het |
| Sema3e |
C |
T |
5: 14,212,199 (GRCm39) |
|
probably benign |
Het |
| Sema5a |
T |
A |
15: 32,548,945 (GRCm39) |
C140S |
probably damaging |
Het |
| Shpk |
A |
C |
11: 73,113,757 (GRCm39) |
D390A |
probably benign |
Het |
| Slc22a20 |
C |
T |
19: 6,022,876 (GRCm39) |
|
probably benign |
Het |
| Steap2 |
A |
G |
5: 5,727,393 (GRCm39) |
V314A |
possibly damaging |
Het |
| Stxbp5l |
A |
G |
16: 37,111,289 (GRCm39) |
|
probably null |
Het |
| Tgm3 |
G |
T |
2: 129,883,688 (GRCm39) |
E449* |
probably null |
Het |
| Tmem68 |
A |
C |
4: 3,560,627 (GRCm39) |
L186V |
probably damaging |
Het |
| Ttpal |
T |
C |
2: 163,457,286 (GRCm39) |
F253L |
possibly damaging |
Het |
| Vmn2r99 |
G |
T |
17: 19,582,514 (GRCm39) |
V40F |
probably benign |
Het |
| Xkr9 |
G |
A |
1: 13,771,167 (GRCm39) |
V228M |
probably damaging |
Het |
| Zc3h7b |
C |
T |
15: 81,661,268 (GRCm39) |
A369V |
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 |
|
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'- CCCACGCTTCCATTGAGGGAATAC -3'
(R):5'- GCAGACTTGCACAGAATTGGAGCC -3'
Sequencing Primer
(F):5'- GCTTCCATTGAGGGAATACTACAG -3'
(R):5'- CACAGAATTGGAGCCAAGGTC -3'
|
| Posted On |
2014-05-09 |
Incidental Mutation