Incidental Mutation 'R6276:Ttc41'
| ID |
507656 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Ttc41
|
| Ensembl Gene |
ENSMUSG00000044937 |
| Gene Name |
tetratricopeptide repeat domain 41 |
| Synonyms |
BC030307, Gnn |
| MMRRC Submission |
044446-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.115)
|
| Stock # |
R6276 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
10 |
| Chromosomal Location |
86541675-86612708 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 86580313 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Threonine
at position 753
(I753T)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000075059
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000075632]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000075632
AA Change: I753T
PolyPhen 2
Score 0.006 (Sensitivity: 0.97; Specificity: 0.75)
|
| SMART Domains |
Protein: ENSMUSP00000075059
Gene: ENSMUSG00000044937
AA Change: I753T
| 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 |
0.0898 |
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.7%
- 10x: 98.3%
- 20x: 95.5%
|
| Validation Efficiency |
100% (71/71) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 72 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Actr3 |
A |
T |
1: 125,322,874 (GRCm39) |
D364E |
probably benign |
Het |
| Adra2c |
C |
T |
5: 35,437,423 (GRCm39) |
T65I |
probably damaging |
Het |
| Agap2 |
T |
A |
10: 126,925,229 (GRCm39) |
|
probably null |
Het |
| Ager |
T |
C |
17: 34,817,728 (GRCm39) |
V126A |
possibly damaging |
Het |
| Arhgap39 |
T |
C |
15: 76,621,736 (GRCm39) |
I288M |
probably benign |
Het |
| Arhgap45 |
A |
T |
10: 79,862,068 (GRCm39) |
S541C |
probably benign |
Het |
| Asb4 |
A |
G |
6: 5,431,043 (GRCm39) |
Y426C |
probably damaging |
Het |
| Azi2 |
C |
T |
9: 117,878,406 (GRCm39) |
T82I |
probably damaging |
Het |
| Baz2b |
T |
A |
2: 59,778,567 (GRCm39) |
R764S |
probably damaging |
Het |
| Ccdc146 |
A |
C |
5: 21,506,338 (GRCm39) |
I701S |
probably damaging |
Het |
| Ccnq |
T |
C |
11: 78,642,056 (GRCm39) |
K145E |
probably damaging |
Het |
| Cd55b |
T |
A |
1: 130,345,903 (GRCm39) |
I172F |
probably damaging |
Het |
| Cdk11b |
A |
G |
4: 155,718,647 (GRCm39) |
E199G |
probably benign |
Het |
| Cntnap4 |
A |
T |
8: 113,478,921 (GRCm39) |
T216S |
possibly damaging |
Het |
| D5Ertd579e |
A |
T |
5: 36,761,858 (GRCm39) |
N1336K |
possibly damaging |
Het |
| Dlg5 |
T |
C |
14: 24,214,636 (GRCm39) |
N649S |
probably damaging |
Het |
| Dmxl1 |
A |
G |
18: 49,979,653 (GRCm39) |
E96G |
probably benign |
Het |
| Dscaml1 |
C |
T |
9: 45,579,458 (GRCm39) |
T335I |
possibly damaging |
Het |
| Epb41l2 |
G |
T |
10: 25,378,022 (GRCm39) |
G695C |
probably damaging |
Het |
| Erbb4 |
C |
T |
1: 68,599,735 (GRCm39) |
R114H |
probably damaging |
Het |
| F2rl1 |
G |
T |
13: 95,650,446 (GRCm39) |
Y145* |
probably null |
Het |
| Fsip2 |
A |
T |
2: 82,810,785 (GRCm39) |
Y2368F |
possibly damaging |
Het |
| Galnt7 |
C |
T |
8: 57,989,612 (GRCm39) |
|
probably null |
Het |
| Garre1 |
A |
T |
7: 33,941,802 (GRCm39) |
Y627* |
probably null |
Het |
| Gm6811 |
T |
A |
17: 21,314,245 (GRCm39) |
|
noncoding transcript |
Het |
| Gm6811 |
T |
G |
17: 21,314,952 (GRCm39) |
|
noncoding transcript |
Het |
| H2-M1 |
G |
A |
17: 36,982,602 (GRCm39) |
T86M |
possibly damaging |
Het |
| Hk2 |
T |
C |
6: 82,720,347 (GRCm39) |
D170G |
probably benign |
Het |
| Hmcn1 |
C |
T |
1: 150,614,432 (GRCm39) |
A1325T |
possibly damaging |
Het |
| Insrr |
T |
A |
3: 87,707,826 (GRCm39) |
Y89* |
probably null |
Het |
| Itga1 |
T |
C |
13: 115,117,388 (GRCm39) |
E871G |
probably benign |
Het |
| Kat6a |
T |
C |
8: 23,429,421 (GRCm39) |
L1592P |
possibly damaging |
Het |
| Kndc1 |
C |
A |
7: 139,500,979 (GRCm39) |
A756E |
probably benign |
Het |
| Krt12 |
A |
T |
11: 99,312,728 (GRCm39) |
C105* |
probably null |
Het |
| Lama1 |
G |
A |
17: 68,091,083 (GRCm39) |
|
probably null |
Het |
| Lama3 |
A |
G |
18: 12,640,006 (GRCm39) |
N67S |
probably benign |
Het |
| Lrrk1 |
A |
G |
7: 65,956,587 (GRCm39) |
|
probably null |
Het |
| Lypd9 |
T |
A |
11: 58,337,192 (GRCm39) |
I94L |
possibly damaging |
Het |
| Map2 |
T |
C |
1: 66,438,578 (GRCm39) |
V34A |
probably damaging |
Het |
| Mroh6 |
A |
G |
15: 75,757,549 (GRCm39) |
L487P |
probably damaging |
Het |
| Myo18b |
A |
T |
5: 112,959,508 (GRCm39) |
S1430T |
probably benign |
Het |
| Notch3 |
G |
A |
17: 32,373,723 (GRCm39) |
T495I |
probably benign |
Het |
| Or1e31 |
A |
T |
11: 73,690,229 (GRCm39) |
M118K |
probably damaging |
Het |
| Palld |
C |
T |
8: 61,966,457 (GRCm39) |
A980T |
probably damaging |
Het |
| Paxip1 |
A |
T |
5: 27,966,666 (GRCm39) |
I620N |
probably damaging |
Het |
| Pcdha6 |
A |
G |
18: 37,102,820 (GRCm39) |
|
probably null |
Het |
| Pcdhb11 |
G |
A |
18: 37,554,813 (GRCm39) |
V48M |
probably benign |
Het |
| Pcdhga6 |
A |
G |
18: 37,840,697 (GRCm39) |
E139G |
probably benign |
Het |
| Pck1 |
T |
C |
2: 172,999,112 (GRCm39) |
V426A |
probably damaging |
Het |
| Pck2 |
T |
A |
14: 55,780,081 (GRCm39) |
I110N |
probably damaging |
Het |
| Peg10 |
GAT |
GATCAT |
6: 4,756,449 (GRCm39) |
|
probably benign |
Het |
| Phactr3 |
G |
A |
2: 177,920,812 (GRCm39) |
E222K |
probably damaging |
Het |
| Ppip5k1 |
A |
T |
2: 121,153,684 (GRCm39) |
|
probably benign |
Het |
| Prodh2 |
A |
G |
7: 30,206,076 (GRCm39) |
H278R |
probably benign |
Het |
| Rspry1 |
T |
A |
8: 95,349,886 (GRCm39) |
H91Q |
probably damaging |
Het |
| Slc13a2 |
CGTTATCTGT |
CGT |
11: 78,294,306 (GRCm39) |
|
probably benign |
Het |
| Smn1 |
A |
G |
13: 100,264,503 (GRCm39) |
N78S |
possibly damaging |
Het |
| Spta1 |
T |
A |
1: 174,046,078 (GRCm39) |
I1614N |
probably damaging |
Het |
| Syt17 |
T |
C |
7: 118,033,513 (GRCm39) |
D165G |
probably damaging |
Het |
| Tbck |
A |
G |
3: 132,448,766 (GRCm39) |
Y593C |
probably damaging |
Het |
| Tcaf2 |
G |
C |
6: 42,606,687 (GRCm39) |
F422L |
probably benign |
Het |
| Tex15 |
T |
A |
8: 34,067,217 (GRCm39) |
F2216I |
possibly damaging |
Het |
| Trpc4 |
A |
G |
3: 54,225,441 (GRCm39) |
E846G |
probably benign |
Het |
| Vdac1 |
C |
T |
11: 52,267,309 (GRCm39) |
T70M |
possibly damaging |
Het |
| Vmn1r124 |
A |
C |
7: 20,994,104 (GRCm39) |
F147V |
probably benign |
Het |
| Vmn1r220 |
T |
C |
13: 23,368,465 (GRCm39) |
D77G |
probably damaging |
Het |
| Vmn2r28 |
T |
C |
7: 5,493,730 (GRCm39) |
H72R |
probably benign |
Het |
| Vmn2r78 |
A |
T |
7: 86,570,318 (GRCm39) |
I279L |
probably benign |
Het |
| Vmn2r95 |
G |
T |
17: 18,671,732 (GRCm39) |
A490S |
possibly damaging |
Het |
| Wdfy4 |
C |
T |
14: 32,831,482 (GRCm39) |
A915T |
possibly damaging |
Het |
| Zmiz2 |
G |
T |
11: 6,345,604 (GRCm39) |
|
probably null |
Het |
| Zscan2 |
A |
G |
7: 80,525,557 (GRCm39) |
N426S |
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 |
|
|
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 |
|
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'- GGATCCCTTAGGTCATGCTC -3'
(R):5'- TGCTGTCCTACCTGAGAGTG -3'
Sequencing Primer
(F):5'- ATGTAACCTCAGCCTTTGGGAGAC -3'
(R):5'- CCTACCTGAGAGTGTGGTTCGC -3'
|
| Posted On |
2018-03-15 |
Incidental Mutation