Incidental Mutation 'R8902:Ttc41'
| ID |
678253 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Ttc41
|
| Ensembl Gene |
ENSMUSG00000044937 |
| Gene Name |
tetratricopeptide repeat domain 41 |
| Synonyms |
BC030307, Gnn |
| MMRRC Submission |
068759-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.126)
|
| Stock # |
R8902 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
10 |
| Chromosomal Location |
86541675-86612708 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to A
at 86548865 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Arginine to Serine
at position 20
(R20S)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000075059
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000061458]
[ENSMUST00000075632]
[ENSMUST00000217747]
[ENSMUST00000219108]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000061458
AA Change: R20S
PolyPhen 2
Score 0.107 (Sensitivity: 0.93; Specificity: 0.86)
|
| SMART Domains |
Protein: ENSMUSP00000062844
Gene: ENSMUSG00000044937
AA Change: R20S
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
216 |
229 |
N/A |
INTRINSIC |
|
low complexity region
|
307 |
315 |
N/A |
INTRINSIC |
|
Blast:AAA
|
336 |
401 |
9e-8 |
BLAST |
|
SCOP:d1jpna2
|
338 |
370 |
1e-3 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000075632
AA Change: R20S
PolyPhen 2
Score 0.065 (Sensitivity: 0.94; Specificity: 0.84)
|
| SMART Domains |
Protein: ENSMUSP00000075059
Gene: ENSMUSG00000044937
AA Change: R20S
| 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: ENSMUST00000217747
AA Change: R20S
PolyPhen 2
Score 0.107 (Sensitivity: 0.93; Specificity: 0.86)
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000219108
AA Change: R20S
PolyPhen 2
Score 0.167 (Sensitivity: 0.92; Specificity: 0.87)
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.6%
- 20x: 98.8%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 64 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acap3 |
G |
T |
4: 155,990,371 (GRCm39) |
R819L |
possibly damaging |
Het |
| App |
A |
G |
16: 84,876,767 (GRCm39) |
V208A |
unknown |
Het |
| C1qtnf7 |
G |
A |
5: 43,773,204 (GRCm39) |
E168K |
probably damaging |
Het |
| Cacna1e |
C |
T |
1: 154,349,632 (GRCm39) |
M757I |
probably benign |
Het |
| Casp1 |
A |
G |
9: 5,299,333 (GRCm39) |
T21A |
probably benign |
Het |
| Ccdc92 |
C |
T |
5: 124,912,705 (GRCm39) |
A275T |
possibly damaging |
Het |
| Ccr4 |
T |
A |
9: 114,325,620 (GRCm39) |
|
probably benign |
Het |
| Cct8l1 |
C |
T |
5: 25,722,908 (GRCm39) |
T541I |
probably benign |
Het |
| Chrng |
G |
T |
1: 87,138,397 (GRCm39) |
R396L |
possibly damaging |
Het |
| Cmip |
A |
G |
8: 118,103,925 (GRCm39) |
T50A |
probably damaging |
Het |
| Ddx21 |
C |
A |
10: 62,434,486 (GRCm39) |
S91I |
probably benign |
Het |
| Dnmbp |
A |
G |
19: 43,890,225 (GRCm39) |
L514P |
probably benign |
Het |
| Echs1 |
A |
T |
7: 139,690,499 (GRCm39) |
M191K |
probably damaging |
Het |
| Eps8 |
A |
G |
6: 137,489,175 (GRCm39) |
S408P |
probably damaging |
Het |
| Fat2 |
T |
C |
11: 55,200,896 (GRCm39) |
E726G |
probably damaging |
Het |
| Fpr2 |
T |
C |
17: 18,113,190 (GRCm39) |
I62T |
probably benign |
Het |
| Gemin4 |
G |
A |
11: 76,102,848 (GRCm39) |
Q638* |
probably null |
Het |
| Glrb |
A |
T |
3: 80,769,285 (GRCm39) |
N147K |
probably damaging |
Het |
| Gm10800 |
CAAGAAAACTGAAAATCAAAGAAAACTGAAAATCA |
CAAGAAAACTGAAAATCA |
2: 98,497,361 (GRCm39) |
|
probably null |
Het |
| Gtf2i |
T |
C |
5: 134,278,720 (GRCm39) |
N637S |
probably benign |
Het |
| Hivep3 |
A |
G |
4: 119,953,937 (GRCm39) |
E751G |
possibly damaging |
Het |
| Ifnb1 |
G |
T |
4: 88,440,547 (GRCm39) |
N155K |
probably damaging |
Het |
| Igf2bp3 |
G |
T |
6: 49,065,365 (GRCm39) |
T509K |
probably damaging |
Het |
| Igsf10 |
T |
C |
3: 59,243,633 (GRCm39) |
M234V |
probably benign |
Het |
| Iqgap2 |
C |
T |
13: 95,818,711 (GRCm39) |
A682T |
probably benign |
Het |
| Ireb2 |
T |
G |
9: 54,799,786 (GRCm39) |
M409R |
probably benign |
Het |
| Kat6b |
C |
T |
14: 21,719,629 (GRCm39) |
T1327I |
probably benign |
Het |
| Krtap5-5 |
A |
G |
7: 141,783,630 (GRCm39) |
S7P |
unknown |
Het |
| Lelp1 |
A |
T |
3: 92,042,978 (GRCm39) |
C24S |
unknown |
Het |
| Malrd1 |
A |
T |
2: 16,260,145 (GRCm39) |
K2122* |
probably null |
Het |
| Mei1 |
C |
A |
15: 81,954,212 (GRCm39) |
R6S |
unknown |
Het |
| Meis3 |
T |
A |
7: 15,911,887 (GRCm39) |
I119N |
probably benign |
Het |
| Mmp20 |
T |
C |
9: 7,639,288 (GRCm39) |
V152A |
probably benign |
Het |
| Muc6 |
T |
A |
7: 141,233,791 (GRCm39) |
I797F |
possibly damaging |
Het |
| Myo7a |
C |
T |
7: 97,741,820 (GRCm39) |
E439K |
probably damaging |
Het |
| Neb |
C |
A |
2: 52,133,222 (GRCm39) |
A3439S |
probably damaging |
Het |
| Nfe2l1 |
T |
A |
11: 96,708,620 (GRCm39) |
D715V |
unknown |
Het |
| Obscn |
C |
A |
11: 59,026,762 (GRCm39) |
R147L |
probably benign |
Het |
| Or14j5 |
T |
A |
17: 38,162,101 (GRCm39) |
M206K |
probably benign |
Het |
| Or2m12 |
T |
A |
16: 19,105,383 (GRCm39) |
I37F |
probably damaging |
Het |
| Or2y1b |
A |
T |
11: 49,209,206 (GRCm39) |
T278S |
probably benign |
Het |
| Or4e5 |
G |
A |
14: 52,728,010 (GRCm39) |
T137I |
probably benign |
Het |
| Or5d38 |
A |
G |
2: 87,954,778 (GRCm39) |
S184P |
probably damaging |
Het |
| Plg |
T |
A |
17: 12,629,790 (GRCm39) |
F608Y |
probably benign |
Het |
| Plppr1 |
C |
A |
4: 49,319,836 (GRCm39) |
P154Q |
probably damaging |
Het |
| Ppp2r5e |
T |
C |
12: 75,500,570 (GRCm39) |
K441R |
probably benign |
Het |
| Prkaca |
T |
C |
8: 84,703,714 (GRCm39) |
S5P |
probably benign |
Het |
| Rbl1 |
T |
C |
2: 157,041,420 (GRCm39) |
K69R |
probably benign |
Het |
| Rbpms2 |
T |
C |
9: 65,558,351 (GRCm39) |
I129T |
probably benign |
Het |
| Serpina1c |
A |
T |
12: 103,865,117 (GRCm39) |
N176K |
probably damaging |
Het |
| Sgsm3 |
C |
T |
15: 80,890,796 (GRCm39) |
H117Y |
probably damaging |
Het |
| Sphkap |
A |
T |
1: 83,256,685 (GRCm39) |
C355S |
probably benign |
Het |
| Stpg2 |
T |
A |
3: 139,004,170 (GRCm39) |
V249E |
probably damaging |
Het |
| Syt2 |
T |
C |
1: 134,675,391 (GRCm39) |
V414A |
possibly damaging |
Het |
| Tiam2 |
T |
C |
17: 3,527,471 (GRCm39) |
I1050T |
probably benign |
Het |
| Tmem131 |
A |
T |
1: 36,848,046 (GRCm39) |
I1134N |
probably damaging |
Het |
| Ttc23 |
A |
G |
7: 67,342,761 (GRCm39) |
E293G |
|
Het |
| Ttn |
C |
T |
2: 76,571,133 (GRCm39) |
V26587M |
probably damaging |
Het |
| Ugt2a2 |
T |
C |
5: 87,608,270 (GRCm39) |
K523R |
possibly damaging |
Het |
| Unc13c |
A |
G |
9: 73,656,830 (GRCm39) |
C1124R |
probably damaging |
Het |
| Ush2a |
T |
A |
1: 188,175,281 (GRCm39) |
N1126K |
probably damaging |
Het |
| Usp36 |
A |
T |
11: 118,165,840 (GRCm39) |
L326Q |
probably damaging |
Het |
| Zfp568 |
T |
C |
7: 29,713,307 (GRCm39) |
M120T |
probably benign |
Het |
| Zfp944 |
T |
C |
17: 22,558,761 (GRCm39) |
D162G |
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 |
|
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 |
|
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'- CATTGCATCCCTTCCACAAG -3'
(R):5'- TGGTGAAGGACTTATGGGCC -3'
Sequencing Primer
(F):5'- TGAAACTGACCAATTGCTTATAGC -3'
(R):5'- GACTTATGGGCCTTCACAGCTG -3'
|
| Posted On |
2021-08-02 |
Incidental Mutation