Incidental Mutation 'R8985:Ttc41'
| ID |
683978 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Ttc41
|
| Ensembl Gene |
ENSMUSG00000044937 |
| Gene Name |
tetratricopeptide repeat domain 41 |
| Synonyms |
BC030307, Gnn |
| MMRRC Submission |
068818-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.126)
|
| Stock # |
R8985 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
10 |
| Chromosomal Location |
86541675-86612708 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 86566956 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Phenylalanine
at position 541
(I541F)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000075059
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000075632]
[ENSMUST00000219108]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000075632
AA Change: I541F
PolyPhen 2
Score 0.800 (Sensitivity: 0.84; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000075059
Gene: ENSMUSG00000044937
AA Change: I541F
| 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 |
possibly damaging
Transcript: ENSMUST00000219108
AA Change: I541F
PolyPhen 2
Score 0.655 (Sensitivity: 0.87; Specificity: 0.91)
|
| Meta Mutation Damage Score |
0.1712 |
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.5%
- 20x: 98.4%
|
| Validation Efficiency |
100% (74/74) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 72 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acad9 |
T |
A |
3: 36,141,860 (GRCm39) |
|
probably benign |
Het |
| Agbl1 |
C |
A |
7: 75,969,904 (GRCm39) |
S53R |
|
Het |
| Ahr |
T |
C |
12: 35,576,736 (GRCm39) |
K65R |
possibly damaging |
Het |
| AI429214 |
A |
T |
8: 37,460,820 (GRCm39) |
|
probably benign |
Het |
| Ankrd52 |
T |
C |
10: 128,222,978 (GRCm39) |
S643P |
probably damaging |
Het |
| Asz1 |
T |
C |
6: 18,051,336 (GRCm39) |
T448A |
probably benign |
Het |
| Atp10a |
A |
G |
7: 58,438,092 (GRCm39) |
I425V |
probably benign |
Het |
| Casd1 |
T |
A |
6: 4,624,399 (GRCm39) |
Y397* |
probably null |
Het |
| Ccdc162 |
A |
G |
10: 41,432,102 (GRCm39) |
I1797T |
probably damaging |
Het |
| Cdc20b |
A |
T |
13: 113,196,330 (GRCm39) |
R152* |
probably null |
Het |
| Cdc25b |
T |
C |
2: 131,035,180 (GRCm39) |
C313R |
probably damaging |
Het |
| Cfap73 |
T |
A |
5: 120,768,123 (GRCm39) |
T212S |
probably benign |
Het |
| Chd9 |
G |
T |
8: 91,721,101 (GRCm39) |
R963L |
unknown |
Het |
| Clip4 |
G |
T |
17: 72,113,527 (GRCm39) |
V226F |
probably damaging |
Het |
| Cmya5 |
A |
G |
13: 93,233,664 (GRCm39) |
S475P |
possibly damaging |
Het |
| Cntn5 |
A |
G |
9: 10,171,960 (GRCm39) |
Y75H |
possibly damaging |
Het |
| Crtc1 |
T |
G |
8: 70,855,092 (GRCm39) |
H176P |
probably damaging |
Het |
| Cspg5 |
T |
C |
9: 110,085,502 (GRCm39) |
W558R |
unknown |
Het |
| Cyp2c39 |
A |
G |
19: 39,552,419 (GRCm39) |
T371A |
probably benign |
Het |
| Dcaf8 |
G |
A |
1: 172,000,199 (GRCm39) |
R119H |
probably benign |
Het |
| Drosha |
G |
T |
15: 12,924,187 (GRCm39) |
A1190S |
possibly damaging |
Het |
| Dst |
T |
C |
1: 34,288,886 (GRCm39) |
V5655A |
probably benign |
Het |
| Etnk1 |
C |
G |
6: 143,140,953 (GRCm39) |
|
probably benign |
Het |
| Flnc |
T |
A |
6: 29,440,499 (GRCm39) |
V269D |
probably benign |
Het |
| Foxs1 |
T |
A |
2: 152,775,058 (GRCm39) |
|
probably benign |
Het |
| Ftsj3 |
T |
C |
11: 106,141,595 (GRCm39) |
Y551C |
possibly damaging |
Het |
| Fzd6 |
A |
T |
15: 38,895,019 (GRCm39) |
H395L |
probably damaging |
Het |
| Grm6 |
C |
T |
11: 50,746,537 (GRCm39) |
A289V |
possibly damaging |
Het |
| Hook1 |
A |
G |
4: 95,910,468 (GRCm39) |
D694G |
probably benign |
Het |
| Idh2 |
TCCCAGG |
T |
7: 79,748,079 (GRCm39) |
|
probably benign |
Het |
| Igha |
T |
C |
12: 113,222,611 (GRCm39) |
E270G |
|
Het |
| Itga2b |
C |
A |
11: 102,356,288 (GRCm39) |
|
probably benign |
Het |
| Jade1 |
A |
C |
3: 41,568,148 (GRCm39) |
S739R |
probably benign |
Het |
| Lpin3 |
T |
C |
2: 160,738,674 (GRCm39) |
S209P |
probably benign |
Het |
| Ly6i |
A |
C |
15: 74,851,806 (GRCm39) |
L121R |
probably damaging |
Het |
| Ms4a1 |
C |
T |
19: 11,232,055 (GRCm39) |
V107I |
probably benign |
Het |
| Mycbpap |
T |
A |
11: 94,404,722 (GRCm39) |
T74S |
probably benign |
Het |
| Nlrp14 |
A |
G |
7: 106,796,436 (GRCm39) |
N921D |
probably benign |
Het |
| Nmur1 |
C |
T |
1: 86,314,103 (GRCm39) |
E388K |
probably benign |
Het |
| Nol4 |
T |
C |
18: 23,085,294 (GRCm39) |
Y40C |
probably damaging |
Het |
| Or1e1c |
T |
C |
11: 73,266,252 (GRCm39) |
S229P |
possibly damaging |
Het |
| Or51k1 |
A |
T |
7: 103,661,367 (GRCm39) |
C181S |
probably damaging |
Het |
| Or8b51 |
A |
T |
9: 38,569,621 (GRCm39) |
Y22* |
probably null |
Het |
| Pawr |
G |
A |
10: 108,247,861 (GRCm39) |
V283M |
possibly damaging |
Het |
| Pde6b |
T |
C |
5: 108,578,503 (GRCm39) |
Y814H |
probably benign |
Het |
| Pds5b |
T |
A |
5: 150,724,239 (GRCm39) |
L1272H |
probably benign |
Het |
| Pkd1l2 |
T |
C |
8: 117,764,849 (GRCm39) |
T1350A |
probably benign |
Het |
| Plcz1 |
T |
A |
6: 139,961,903 (GRCm39) |
Q216L |
possibly damaging |
Het |
| Prodh |
A |
T |
16: 17,890,362 (GRCm39) |
C522S |
probably null |
Het |
| Rasef |
G |
T |
4: 73,708,960 (GRCm39) |
P91Q |
possibly damaging |
Het |
| Rgs14 |
G |
A |
13: 55,531,234 (GRCm39) |
|
probably benign |
Het |
| Rnase6 |
A |
T |
14: 51,367,632 (GRCm39) |
Y8F |
unknown |
Het |
| Rnf216 |
T |
A |
5: 143,076,180 (GRCm39) |
T235S |
probably benign |
Het |
| Slco2a1 |
G |
A |
9: 102,949,834 (GRCm39) |
|
probably null |
Het |
| Smoc1 |
A |
G |
12: 81,226,261 (GRCm39) |
E362G |
probably damaging |
Het |
| Sncaip |
T |
C |
18: 53,002,169 (GRCm39) |
L230P |
probably benign |
Het |
| Tdrd3 |
A |
G |
14: 87,743,597 (GRCm39) |
E515G |
possibly damaging |
Het |
| Tipin |
T |
A |
9: 64,195,385 (GRCm39) |
|
probably null |
Het |
| Tmem9 |
T |
A |
1: 135,955,145 (GRCm39) |
V93D |
possibly damaging |
Het |
| Tpm3-rs7 |
A |
C |
14: 113,552,756 (GRCm39) |
I217L |
probably benign |
Het |
| Uck2 |
T |
C |
1: 167,070,681 (GRCm39) |
D16G |
probably benign |
Het |
| Vmn1r50 |
A |
G |
6: 90,085,017 (GRCm39) |
D254G |
probably benign |
Het |
| Vmn2r50 |
A |
C |
7: 9,779,974 (GRCm39) |
F469C |
probably damaging |
Het |
| Vmn2r57 |
A |
G |
7: 41,049,259 (GRCm39) |
V830A |
probably benign |
Het |
| Wwc2 |
T |
A |
8: 48,331,919 (GRCm39) |
R299S |
probably benign |
Het |
| Xdh |
C |
T |
17: 74,228,346 (GRCm39) |
G352R |
probably damaging |
Het |
| Xkr9 |
A |
T |
1: 13,770,990 (GRCm39) |
M169L |
probably benign |
Het |
| Zbtb10 |
A |
G |
3: 9,345,807 (GRCm39) |
D767G |
probably damaging |
Het |
| Zfp106 |
T |
C |
2: 120,366,077 (GRCm39) |
Y65C |
|
Het |
| Zfp536 |
A |
G |
7: 37,268,228 (GRCm39) |
L396P |
probably damaging |
Het |
| Znhit1 |
C |
A |
5: 137,011,408 (GRCm39) |
C135F |
probably damaging |
Het |
| Zscan5b |
A |
G |
7: 6,241,834 (GRCm39) |
E351G |
probably damaging |
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 |
|
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 |
|
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'- GTAAATTCATTCTGAGCAGCGTCTC -3'
(R):5'- TCACACACCTGGAATCACGG -3'
Sequencing Primer
(F):5'- AGTCTGTCCTGCAAGTCGCTG -3'
(R):5'- ACACCTGGAATCACGGTGTCTAG -3'
|
| Posted On |
2021-10-11 |
Incidental Mutation