Incidental Mutation 'R5567:Ttc41'
| ID |
436940 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Ttc41
|
| Ensembl Gene |
ENSMUSG00000044937 |
| Gene Name |
tetratricopeptide repeat domain 41 |
| Synonyms |
BC030307, Gnn |
| MMRRC Submission |
043124-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.115)
|
| Stock # |
R5567 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
10 |
| Chromosomal Location |
86541675-86612708 bp(+) (GRCm39) |
| Type of Mutation |
critical splice donor site (2 bp from exon) |
| DNA Base Change (assembly) |
T to C
at 86596784 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| 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
|
| SMART Domains |
Protein: ENSMUSP00000075059
Gene: ENSMUSG00000044937
| 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
|
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.7%
- 10x: 98.6%
- 20x: 96.0%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 84 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Aak1 |
C |
T |
6: 86,932,150 (GRCm39) |
Q374* |
probably null |
Het |
| Adam19 |
A |
G |
11: 46,027,077 (GRCm39) |
D570G |
probably damaging |
Het |
| Aqr |
G |
A |
2: 113,979,451 (GRCm39) |
T328M |
probably damaging |
Het |
| Bltp3b |
T |
A |
10: 89,644,383 (GRCm39) |
M29K |
probably benign |
Het |
| Boc |
G |
A |
16: 44,313,187 (GRCm39) |
T559I |
probably damaging |
Het |
| Cadps |
A |
T |
14: 12,473,497 (GRCm38) |
I876N |
possibly damaging |
Het |
| Cdh9 |
A |
G |
15: 16,855,930 (GRCm39) |
T657A |
probably damaging |
Het |
| Cep104 |
T |
C |
4: 154,086,734 (GRCm39) |
S794P |
possibly damaging |
Het |
| Cep72 |
T |
C |
13: 74,188,260 (GRCm39) |
Q211R |
probably benign |
Het |
| Coq6 |
T |
A |
12: 84,415,413 (GRCm39) |
D145E |
probably benign |
Het |
| Crym |
T |
C |
7: 119,801,116 (GRCm39) |
E11G |
probably benign |
Het |
| Csmd3 |
A |
T |
15: 47,508,864 (GRCm39) |
M2907K |
possibly damaging |
Het |
| Cspg4 |
A |
C |
9: 56,793,932 (GRCm39) |
I556L |
probably benign |
Het |
| Cwf19l2 |
T |
A |
9: 3,456,831 (GRCm39) |
D721E |
probably damaging |
Het |
| Defb36 |
T |
A |
2: 152,454,503 (GRCm39) |
V54E |
probably damaging |
Het |
| Dlg5 |
C |
A |
14: 24,242,981 (GRCm39) |
E55* |
probably null |
Het |
| Dna2 |
G |
T |
10: 62,802,452 (GRCm39) |
A857S |
possibly damaging |
Het |
| E330034G19Rik |
A |
G |
14: 24,346,892 (GRCm39) |
K60E |
possibly damaging |
Het |
| Eps8l2 |
G |
A |
7: 140,934,920 (GRCm39) |
R76Q |
possibly damaging |
Het |
| Fbxl18 |
A |
G |
5: 142,881,022 (GRCm39) |
|
probably benign |
Het |
| Flnc |
T |
A |
6: 29,444,044 (GRCm39) |
C619* |
probably null |
Het |
| Ftcd |
A |
G |
10: 76,423,967 (GRCm39) |
K503E |
probably benign |
Het |
| Gbp2b |
C |
T |
3: 142,317,126 (GRCm39) |
A494V |
possibly damaging |
Het |
| Gfral |
C |
T |
9: 76,115,900 (GRCm39) |
A25T |
probably benign |
Het |
| Gins2 |
T |
A |
8: 121,315,684 (GRCm39) |
D24V |
possibly damaging |
Het |
| Gm10985 |
T |
C |
3: 53,752,683 (GRCm39) |
I22T |
probably damaging |
Het |
| Golga4 |
T |
A |
9: 118,387,251 (GRCm39) |
S1458T |
probably damaging |
Het |
| Gpatch1 |
T |
C |
7: 35,006,640 (GRCm39) |
K176R |
probably damaging |
Het |
| Gsto1 |
T |
C |
19: 47,846,338 (GRCm39) |
W62R |
probably damaging |
Het |
| Gtf2h3 |
C |
T |
5: 124,722,360 (GRCm39) |
T121I |
probably benign |
Het |
| Gxylt1 |
A |
G |
15: 93,152,180 (GRCm39) |
|
probably null |
Het |
| Hs6st1 |
C |
T |
1: 36,142,719 (GRCm39) |
P218L |
probably benign |
Het |
| Itpr3 |
C |
T |
17: 27,322,880 (GRCm39) |
T1119M |
possibly damaging |
Het |
| Kif5c |
A |
G |
2: 49,620,211 (GRCm39) |
D226G |
possibly damaging |
Het |
| Klk1b1 |
T |
A |
7: 43,620,593 (GRCm39) |
S228T |
probably damaging |
Het |
| Krt1 |
A |
G |
15: 101,755,340 (GRCm39) |
F473S |
probably benign |
Het |
| Large1 |
A |
G |
8: 73,564,081 (GRCm39) |
S562P |
possibly damaging |
Het |
| Lpxn |
T |
A |
19: 12,810,023 (GRCm39) |
M265K |
possibly damaging |
Het |
| Lrriq1 |
G |
A |
10: 103,006,457 (GRCm39) |
P1223S |
possibly damaging |
Het |
| Map3k9 |
A |
G |
12: 81,778,798 (GRCm39) |
L505P |
possibly damaging |
Het |
| Morn2 |
A |
G |
17: 80,604,709 (GRCm39) |
D128G |
probably damaging |
Het |
| Msl2 |
A |
G |
9: 100,978,936 (GRCm39) |
K437E |
possibly damaging |
Het |
| Msr1 |
T |
C |
8: 40,064,760 (GRCm39) |
I305V |
probably benign |
Het |
| Muc4 |
A |
G |
16: 32,598,066 (GRCm39) |
E3237G |
possibly damaging |
Het |
| Mxra8 |
T |
C |
4: 155,925,465 (GRCm39) |
M58T |
probably damaging |
Het |
| Myo16 |
A |
G |
8: 10,372,676 (GRCm39) |
D125G |
probably damaging |
Het |
| Myom2 |
A |
G |
8: 15,152,546 (GRCm39) |
Q631R |
probably benign |
Het |
| Nlrp1b |
T |
A |
11: 71,072,229 (GRCm39) |
H538L |
probably benign |
Het |
| Nme3 |
T |
A |
17: 25,115,823 (GRCm39) |
|
probably null |
Het |
| Nop2 |
T |
C |
6: 125,110,726 (GRCm39) |
S68P |
probably benign |
Het |
| Nploc4 |
C |
T |
11: 120,275,440 (GRCm39) |
V499M |
probably benign |
Het |
| Nub1 |
A |
G |
5: 24,913,814 (GRCm39) |
E565G |
possibly damaging |
Het |
| Or1e19 |
C |
T |
11: 73,316,272 (GRCm39) |
C179Y |
probably damaging |
Het |
| Or6e1 |
A |
G |
14: 54,519,825 (GRCm39) |
F176L |
probably damaging |
Het |
| Or7e168 |
A |
G |
9: 19,719,674 (GRCm39) |
D20G |
probably damaging |
Het |
| Or9g3 |
G |
A |
2: 85,589,994 (GRCm39) |
S242F |
probably damaging |
Het |
| Parl |
A |
G |
16: 20,101,762 (GRCm39) |
M90T |
probably damaging |
Het |
| Pelo |
T |
C |
13: 115,226,152 (GRCm39) |
I102V |
probably benign |
Het |
| Pigt |
T |
A |
2: 164,343,482 (GRCm39) |
Y319* |
probably null |
Het |
| Plb1 |
A |
G |
5: 32,521,543 (GRCm39) |
T1465A |
unknown |
Het |
| Plxna4 |
T |
C |
6: 32,134,915 (GRCm39) |
N1763D |
possibly damaging |
Het |
| Pmpca |
A |
G |
2: 26,280,553 (GRCm39) |
E133G |
probably damaging |
Het |
| Pus7l |
G |
A |
15: 94,425,746 (GRCm39) |
P552S |
probably benign |
Het |
| Qsox2 |
A |
G |
2: 26,115,230 (GRCm39) |
M1T |
probably null |
Het |
| Ralb |
C |
T |
1: 119,411,265 (GRCm39) |
V25I |
probably damaging |
Het |
| Rbbp6 |
A |
G |
7: 122,601,057 (GRCm39) |
|
probably benign |
Het |
| Rnf43 |
A |
G |
11: 87,618,271 (GRCm39) |
E187G |
probably damaging |
Het |
| Rpl31 |
C |
T |
1: 39,409,108 (GRCm39) |
R41C |
probably benign |
Het |
| Scap |
A |
G |
9: 110,206,712 (GRCm39) |
S386G |
probably damaging |
Het |
| Skint10 |
T |
C |
4: 112,573,067 (GRCm39) |
Y243C |
probably damaging |
Het |
| Stpg2 |
A |
G |
3: 139,125,547 (GRCm39) |
T447A |
probably benign |
Het |
| Tas1r1 |
G |
A |
4: 152,122,782 (GRCm39) |
A21V |
probably damaging |
Het |
| Tas2r122 |
C |
T |
6: 132,688,335 (GRCm39) |
G186E |
probably benign |
Het |
| Tenm4 |
C |
A |
7: 96,545,416 (GRCm39) |
Y2477* |
probably null |
Het |
| Them7 |
A |
G |
2: 105,209,153 (GRCm39) |
T158A |
probably benign |
Het |
| Tmcc2 |
A |
C |
1: 132,285,543 (GRCm39) |
S608A |
probably benign |
Het |
| Ttk |
T |
A |
9: 83,744,588 (GRCm39) |
N593K |
possibly damaging |
Het |
| Tulp1 |
A |
G |
17: 28,578,172 (GRCm39) |
V289A |
possibly damaging |
Het |
| Unc93a2 |
T |
C |
17: 7,631,202 (GRCm39) |
T456A |
probably benign |
Het |
| Usp34 |
A |
C |
11: 23,438,336 (GRCm39) |
Q278P |
probably damaging |
Het |
| Vmn2r78 |
T |
A |
7: 86,570,737 (GRCm39) |
D418E |
probably benign |
Het |
| Vmn2r90 |
C |
T |
17: 17,932,336 (GRCm39) |
A81V |
probably damaging |
Het |
| Xpc |
T |
A |
6: 91,475,117 (GRCm39) |
N636I |
probably damaging |
Het |
| Zfp563 |
A |
T |
17: 33,308,431 (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 |
|
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 |
|
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'- TCCATGCCTGGTAAACCACAG -3'
(R):5'- TGGGTCCAGAGTTTTCAGAAGG -3'
Sequencing Primer
(F):5'- CTGGTAAACCACAGGCCTG -3'
(R):5'- GCTTTGTAGTAGATGCCCTGACAAAC -3'
|
| Posted On |
2016-10-24 |
Incidental Mutation