Incidental Mutation 'R9500:Ttc41'
| ID |
717507 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Ttc41
|
| Ensembl Gene |
ENSMUSG00000044937 |
| Gene Name |
tetratricopeptide repeat domain 41 |
| Synonyms |
BC030307, Gnn |
| MMRRC Submission |
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.115)
|
| Stock # |
R9500 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
10 |
| Chromosomal Location |
86541675-86612708 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to T
at 86565726 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Alanine to Serine
at position 427
(A427S)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000075059
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000075632]
[ENSMUST00000219108]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000075632
AA Change: A427S
PolyPhen 2
Score 0.026 (Sensitivity: 0.95; Specificity: 0.81)
|
| SMART Domains |
Protein: ENSMUSP00000075059
Gene: ENSMUSG00000044937
AA Change: A427S
| 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: ENSMUST00000219108
AA Change: A427S
PolyPhen 2
Score 0.008 (Sensitivity: 0.96; Specificity: 0.76)
|
| 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: 75 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 2310022A10Rik |
C |
T |
7: 27,265,091 (GRCm39) |
T107I |
possibly damaging |
Het |
| Acyp1 |
T |
A |
12: 85,325,786 (GRCm39) |
Y71F |
unknown |
Het |
| Akap11 |
A |
T |
14: 78,748,543 (GRCm39) |
H1281Q |
|
Het |
| Amz1 |
T |
C |
5: 140,737,975 (GRCm39) |
Y412H |
probably benign |
Het |
| Anxa10 |
C |
T |
8: 62,545,545 (GRCm39) |
M62I |
probably benign |
Het |
| Arhgap25 |
T |
C |
6: 87,469,184 (GRCm39) |
K109E |
probably damaging |
Het |
| Arhgap31 |
T |
A |
16: 38,460,683 (GRCm39) |
E43D |
probably damaging |
Het |
| Atf6 |
T |
C |
1: 170,574,708 (GRCm39) |
M577V |
probably damaging |
Het |
| Auts2 |
C |
A |
5: 131,505,620 (GRCm39) |
A82S |
unknown |
Het |
| Bcl3 |
T |
C |
7: 19,556,602 (GRCm39) |
M1V |
probably null |
Het |
| Cblb |
T |
C |
16: 51,959,993 (GRCm39) |
|
probably null |
Het |
| Cc2d2b |
T |
C |
19: 40,797,840 (GRCm39) |
V820A |
unknown |
Het |
| Clint1 |
T |
G |
11: 45,797,194 (GRCm39) |
M425R |
possibly damaging |
Het |
| Clvs1 |
A |
G |
4: 9,429,834 (GRCm39) |
D279G |
probably damaging |
Het |
| Colec11 |
A |
C |
12: 28,645,302 (GRCm39) |
I123S |
probably damaging |
Het |
| Crebbp |
C |
T |
16: 3,911,355 (GRCm39) |
E1460K |
probably damaging |
Het |
| Cyp2t4 |
G |
A |
7: 26,854,717 (GRCm39) |
V66M |
possibly damaging |
Het |
| Dcaf8 |
C |
G |
1: 171,999,909 (GRCm39) |
S22R |
possibly damaging |
Het |
| Dmxl1 |
T |
C |
18: 50,011,271 (GRCm39) |
S1143P |
probably damaging |
Het |
| Dnhd1 |
T |
C |
7: 105,353,709 (GRCm39) |
I2954T |
probably benign |
Het |
| Dop1b |
C |
T |
16: 93,607,171 (GRCm39) |
P2275L |
probably benign |
Het |
| Drc3 |
A |
G |
11: 60,261,334 (GRCm39) |
S162G |
probably benign |
Het |
| Ehd2 |
T |
C |
7: 15,686,077 (GRCm39) |
I332V |
possibly damaging |
Het |
| Eml1 |
T |
A |
12: 108,493,958 (GRCm39) |
D584E |
probably damaging |
Het |
| Eogt |
T |
C |
6: 97,096,992 (GRCm39) |
T339A |
probably benign |
Het |
| Gbf1 |
A |
G |
19: 46,258,389 (GRCm39) |
T949A |
probably benign |
Het |
| Gm11568 |
GCTGCTGCCAGCCCTGCTGCCAGCCC |
GCTGCTGCCAGCCCTGCTGCCAGCCCTGCTGCCAGCCC |
11: 99,749,044 (GRCm39) |
|
probably benign |
Het |
| Gm11568 |
AGCCC |
AGCCCTGCTGCCTGCCC |
11: 99,749,065 (GRCm39) |
|
probably benign |
Het |
| Gtpbp10 |
A |
T |
5: 5,606,120 (GRCm39) |
C88* |
probably null |
Het |
| Ifit1bl2 |
A |
T |
19: 34,596,508 (GRCm39) |
Y369* |
probably null |
Het |
| Igsf6 |
A |
G |
7: 120,673,697 (GRCm39) |
L11P |
probably benign |
Het |
| Lars1 |
A |
T |
18: 42,361,726 (GRCm39) |
I627N |
probably damaging |
Het |
| Lmo3 |
G |
T |
6: 138,393,621 (GRCm39) |
Q11K |
|
Het |
| Mical2 |
A |
T |
7: 111,936,054 (GRCm39) |
|
probably null |
Het |
| Mmp23 |
A |
G |
4: 155,736,567 (GRCm39) |
V158A |
probably benign |
Het |
| Mmp24 |
T |
C |
2: 155,654,195 (GRCm39) |
I391T |
probably damaging |
Het |
| Mrgpra3 |
A |
T |
7: 47,239,400 (GRCm39) |
Y175* |
probably null |
Het |
| Mrpl23 |
G |
A |
7: 142,089,859 (GRCm39) |
V65M |
probably damaging |
Het |
| Mup1 |
A |
G |
4: 60,456,488 (GRCm39) |
L85S |
possibly damaging |
Het |
| Myo15b |
T |
C |
11: 115,777,466 (GRCm39) |
L747S |
probably damaging |
Het |
| Nanog |
G |
T |
6: 122,690,219 (GRCm39) |
W208L |
probably damaging |
Het |
| Nkg7 |
A |
G |
7: 43,087,229 (GRCm39) |
Y112C |
probably damaging |
Het |
| Nup155 |
A |
G |
15: 8,141,800 (GRCm39) |
D64G |
probably damaging |
Het |
| Or13p4 |
A |
G |
4: 118,546,930 (GRCm39) |
S240P |
possibly damaging |
Het |
| Palm3 |
T |
C |
8: 84,753,636 (GRCm39) |
S108P |
probably damaging |
Het |
| Pam |
T |
C |
1: 97,772,325 (GRCm39) |
N579D |
probably benign |
Het |
| Pclo |
A |
G |
5: 14,725,648 (GRCm39) |
E1502G |
unknown |
Het |
| Pde4dip |
A |
G |
3: 97,795,896 (GRCm39) |
S31P |
unknown |
Het |
| Peg10 |
A |
T |
6: 4,756,871 (GRCm39) |
K482N |
unknown |
Het |
| Phf19 |
A |
T |
2: 34,801,708 (GRCm39) |
L34* |
probably null |
Het |
| Pla2g2c |
A |
T |
4: 138,461,689 (GRCm39) |
K53* |
probably null |
Het |
| Pla2g4f |
T |
A |
2: 120,142,713 (GRCm39) |
|
probably null |
Het |
| Polk |
G |
T |
13: 96,630,349 (GRCm39) |
T404K |
probably damaging |
Het |
| Prkdc |
T |
A |
16: 15,657,079 (GRCm39) |
V4058D |
possibly damaging |
Het |
| Prox2 |
T |
A |
12: 85,134,851 (GRCm39) |
I477F |
probably damaging |
Het |
| Ptk6 |
A |
G |
2: 180,837,566 (GRCm39) |
V451A |
probably benign |
Het |
| Ptpn3 |
C |
T |
4: 57,205,914 (GRCm39) |
E693K |
possibly damaging |
Het |
| Rag2 |
G |
A |
2: 101,461,217 (GRCm39) |
G509D |
probably damaging |
Het |
| Rapgef2 |
A |
G |
3: 78,974,093 (GRCm39) |
C1418R |
probably benign |
Het |
| Rev1 |
A |
T |
1: 38,102,214 (GRCm39) |
Y716* |
probably null |
Het |
| Rsl1d1 |
T |
A |
16: 11,011,385 (GRCm39) |
T440S |
possibly damaging |
Het |
| Samd14 |
T |
A |
11: 94,914,372 (GRCm39) |
Y343* |
probably null |
Het |
| Sema3a |
A |
T |
5: 13,615,854 (GRCm39) |
D426V |
possibly damaging |
Het |
| Slc7a11 |
G |
A |
3: 50,382,201 (GRCm39) |
T182M |
probably benign |
Het |
| Slitrk5 |
A |
G |
14: 111,916,726 (GRCm39) |
I117V |
possibly damaging |
Het |
| Son |
AGAACCCCCAGCCGCAGGAGCCGAACCCCCAGCCGCAGGAGCCGAACCCCCAGCCGCAGGAGCCGAACCCCCAGCCG |
AGAACCCCCAGCCGCAGGAGCCGAACCCCCAGCCGCAGGAGCCGAACCCCCAGCCG |
16: 91,457,222 (GRCm39) |
|
probably benign |
Het |
| Stil |
A |
T |
4: 114,878,716 (GRCm39) |
H384L |
possibly damaging |
Het |
| Suclg2 |
C |
A |
6: 95,546,666 (GRCm39) |
R270L |
probably damaging |
Het |
| Taf5 |
A |
G |
19: 47,065,771 (GRCm39) |
D492G |
probably damaging |
Het |
| Tes3-ps |
T |
A |
13: 49,647,815 (GRCm39) |
Y230* |
probably null |
Het |
| Ttn |
T |
C |
2: 76,553,994 (GRCm39) |
D30903G |
probably damaging |
Het |
| Txndc16 |
A |
T |
14: 45,406,798 (GRCm39) |
L219Q |
probably null |
Het |
| Usp34 |
T |
A |
11: 23,331,337 (GRCm39) |
H1098Q |
probably damaging |
Het |
| Vmn2r52 |
T |
A |
7: 9,905,281 (GRCm39) |
Y186F |
probably damaging |
Het |
| Zbtb41 |
T |
C |
1: 139,359,806 (GRCm39) |
F512S |
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 |
|
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 |
|
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'- GCGGGCACTCGTTTTCTAAC -3'
(R):5'- TGTACACGCTAGACCTTTGG -3'
Sequencing Primer
(F):5'- GGGCACTCGTTTTCTAACCTCTC -3'
(R):5'- CTTTGGTCCTGAGCCAAAAAG -3'
|
| Posted On |
2022-07-18 |
Incidental Mutation