Incidental Mutation 'R7689:Ttc41'
| ID |
593280 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Ttc41
|
| Ensembl Gene |
ENSMUSG00000044937 |
| Gene Name |
tetratricopeptide repeat domain 41 |
| Synonyms |
BC030307, Gnn |
| MMRRC Submission |
045753-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.126)
|
| Stock # |
R7689 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
10 |
| Chromosomal Location |
86541675-86612708 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 86595088 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamic Acid to Glycine
at position 954
(E954G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000075059
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000075632]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000075632
AA Change: E954G
PolyPhen 2
Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
|
| SMART Domains |
Protein: ENSMUSP00000075059
Gene: ENSMUSG00000044937
AA Change: E954G
| 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 |
probably benign
Transcript: ENSMUST00000219476
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.7%
- 20x: 99.2%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 77 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 2510039O18Rik |
T |
A |
4: 148,029,440 (GRCm39) |
F470Y |
probably damaging |
Het |
| Adra1a |
T |
C |
14: 66,875,250 (GRCm39) |
L75P |
probably damaging |
Het |
| Agap1 |
T |
C |
1: 89,762,188 (GRCm39) |
S560P |
probably damaging |
Het |
| Ahcyl |
T |
C |
16: 45,974,970 (GRCm39) |
T136A |
probably benign |
Het |
| Arrdc4 |
T |
A |
7: 68,391,623 (GRCm39) |
I215L |
probably damaging |
Het |
| Atad3a |
C |
T |
4: 155,840,610 (GRCm39) |
A97T |
probably damaging |
Het |
| Bcas3 |
A |
T |
11: 85,386,713 (GRCm39) |
T383S |
probably benign |
Het |
| C2cd5 |
G |
A |
6: 142,995,951 (GRCm39) |
R379* |
probably null |
Het |
| Cacna1e |
G |
T |
1: 154,274,549 (GRCm39) |
H2138N |
probably benign |
Het |
| Card14 |
A |
T |
11: 119,216,328 (GRCm39) |
D303V |
possibly damaging |
Het |
| Ccdc202 |
T |
C |
14: 96,119,252 (GRCm39) |
V3A |
probably benign |
Het |
| Cfhr1 |
T |
C |
1: 139,475,478 (GRCm39) |
Y331C |
unknown |
Het |
| Chp1 |
G |
A |
2: 119,415,146 (GRCm39) |
D183N |
probably benign |
Het |
| Cntn2 |
T |
C |
1: 132,443,882 (GRCm39) |
T966A |
probably benign |
Het |
| Cpne9 |
T |
G |
6: 113,266,965 (GRCm39) |
C133G |
probably damaging |
Het |
| Cspg4b |
A |
G |
13: 113,515,948 (GRCm39) |
T121A |
|
Het |
| Cul7 |
C |
T |
17: 46,963,747 (GRCm39) |
Q275* |
probably null |
Het |
| Cyp11b1 |
T |
C |
15: 74,710,897 (GRCm39) |
D221G |
probably benign |
Het |
| Dmxl1 |
T |
A |
18: 49,979,685 (GRCm39) |
F107I |
probably benign |
Het |
| Dnhd1 |
A |
G |
7: 105,363,170 (GRCm39) |
I3911V |
probably benign |
Het |
| Eif1ad16 |
A |
G |
12: 87,985,259 (GRCm39) |
Y95H |
probably damaging |
Het |
| Eloa |
T |
C |
4: 135,736,595 (GRCm39) |
H551R |
probably benign |
Het |
| Fam171b |
T |
A |
2: 83,709,732 (GRCm39) |
V468D |
probably benign |
Het |
| Fat2 |
A |
G |
11: 55,200,666 (GRCm39) |
W803R |
probably damaging |
Het |
| Fbxo43 |
T |
C |
15: 36,163,201 (GRCm39) |
D2G |
probably benign |
Het |
| Fbxo8 |
A |
G |
8: 57,041,120 (GRCm39) |
T179A |
probably benign |
Het |
| Gdap1 |
A |
G |
1: 17,231,623 (GRCm39) |
T323A |
probably damaging |
Het |
| Gm136 |
T |
C |
4: 34,743,875 (GRCm39) |
N323S |
probably null |
Het |
| Gm6899 |
A |
T |
11: 26,543,819 (GRCm39) |
T129S |
unknown |
Het |
| Gnb3 |
A |
T |
6: 124,814,183 (GRCm39) |
C166S |
possibly damaging |
Het |
| Gpr61 |
A |
G |
3: 108,057,966 (GRCm39) |
F232L |
probably damaging |
Het |
| Gpx8 |
T |
C |
13: 113,179,711 (GRCm39) |
M197V |
probably benign |
Het |
| Gse1 |
G |
T |
8: 121,295,217 (GRCm39) |
R446L |
unknown |
Het |
| Itch |
A |
T |
2: 155,054,987 (GRCm39) |
T764S |
probably benign |
Het |
| Itch |
A |
G |
2: 155,051,922 (GRCm39) |
K614E |
probably damaging |
Het |
| Itpkb |
T |
G |
1: 180,241,544 (GRCm39) |
M738R |
probably damaging |
Het |
| Jph1 |
T |
A |
1: 17,074,192 (GRCm39) |
K609* |
probably null |
Het |
| Kcns1 |
G |
A |
2: 164,010,241 (GRCm39) |
R173C |
probably damaging |
Het |
| Larp4b |
C |
T |
13: 9,186,834 (GRCm39) |
S54L |
probably damaging |
Het |
| Lonrf1 |
G |
T |
8: 36,715,918 (GRCm39) |
S239* |
probably null |
Het |
| Lyst |
T |
G |
13: 13,857,808 (GRCm39) |
|
probably null |
Het |
| Mccc1 |
T |
A |
3: 36,015,132 (GRCm39) |
R663* |
probably null |
Het |
| Mcm3 |
A |
G |
1: 20,876,997 (GRCm39) |
V646A |
probably benign |
Het |
| Mdn1 |
T |
C |
4: 32,739,912 (GRCm39) |
L3722P |
probably damaging |
Het |
| Mmp27 |
T |
G |
9: 7,579,002 (GRCm39) |
D392E |
probably damaging |
Het |
| Ms4a14 |
A |
G |
19: 11,279,906 (GRCm39) |
I884T |
probably benign |
Het |
| Muc4 |
C |
T |
16: 32,574,439 (GRCm39) |
T963I |
probably benign |
Het |
| Muc6 |
G |
C |
7: 141,217,659 (GRCm39) |
P2338R |
probably damaging |
Het |
| Mucl3 |
C |
A |
17: 35,948,969 (GRCm39) |
S210I |
possibly damaging |
Het |
| Nbeal1 |
G |
C |
1: 60,276,310 (GRCm39) |
V684L |
probably benign |
Het |
| Ndrg2 |
C |
T |
14: 52,147,812 (GRCm39) |
A102T |
possibly damaging |
Het |
| Nhsl3 |
T |
C |
4: 129,117,566 (GRCm39) |
N411S |
probably benign |
Het |
| Nos1 |
A |
G |
5: 118,035,792 (GRCm39) |
D431G |
probably damaging |
Het |
| Oog4 |
CAA |
CA |
4: 143,164,022 (GRCm39) |
|
probably null |
Het |
| Otog |
T |
C |
7: 45,901,480 (GRCm39) |
L393P |
probably damaging |
Het |
| Plcl1 |
A |
G |
1: 55,736,627 (GRCm39) |
N656S |
probably damaging |
Het |
| Pole3 |
C |
A |
4: 62,443,060 (GRCm39) |
V27F |
probably damaging |
Het |
| Prrt4 |
T |
A |
6: 29,177,140 (GRCm39) |
I210F |
probably damaging |
Het |
| Ptpn18 |
G |
A |
1: 34,512,445 (GRCm39) |
D417N |
possibly damaging |
Het |
| Rbpms |
A |
T |
8: 34,354,387 (GRCm39) |
S53T |
possibly damaging |
Het |
| Rgs7 |
C |
A |
1: 174,949,296 (GRCm39) |
V203L |
probably benign |
Het |
| Riok1 |
A |
T |
13: 38,229,263 (GRCm39) |
D150V |
probably damaging |
Het |
| Rrp1b |
T |
C |
17: 32,274,900 (GRCm39) |
L335P |
probably benign |
Het |
| Rsph6a |
T |
G |
7: 18,801,962 (GRCm39) |
I592S |
possibly damaging |
Het |
| Skor1 |
C |
T |
9: 63,052,661 (GRCm39) |
G436D |
probably damaging |
Het |
| Slc17a8 |
T |
C |
10: 89,433,319 (GRCm39) |
T51A |
possibly damaging |
Het |
| Slc22a8 |
T |
C |
19: 8,585,248 (GRCm39) |
S266P |
probably damaging |
Het |
| Socs2 |
A |
G |
10: 95,250,845 (GRCm39) |
|
probably benign |
Het |
| Tas2r106 |
A |
G |
6: 131,655,668 (GRCm39) |
I61T |
possibly damaging |
Het |
| Tfap2a |
T |
C |
13: 40,882,051 (GRCm39) |
N77D |
probably damaging |
Het |
| Tmem236 |
T |
A |
2: 14,197,076 (GRCm39) |
L88Q |
probably damaging |
Het |
| Vmn1r34 |
G |
T |
6: 66,613,994 (GRCm39) |
S248* |
probably null |
Het |
| Wipf1 |
T |
C |
2: 73,262,789 (GRCm39) |
R483G |
probably damaging |
Het |
| Zfhx4 |
A |
G |
3: 5,476,946 (GRCm39) |
N3187S |
probably benign |
Het |
| Zfp202 |
C |
A |
9: 40,121,829 (GRCm39) |
P309T |
probably benign |
Het |
| Zfp39 |
T |
C |
11: 58,781,469 (GRCm39) |
H431R |
probably damaging |
Het |
| Zfp658 |
T |
A |
7: 43,224,102 (GRCm39) |
H792Q |
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 |
|
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 |
|
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'- TTCAGGGGATAAACAAAGCCTTAAGTG -3'
(R):5'- ACCAATGAGTTATGTGGGAGATGTG -3'
Sequencing Primer
(F):5'- CAAAGCCTTAAGTGTTATGTTCTTTG -3'
(R):5'- TCTACCTTCCAAGTGCAGGGATG -3'
|
| Posted On |
2019-11-12 |
Incidental Mutation