Incidental Mutation 'IGL02887:Ttc41'
ID |
363797 |
Institutional Source |
Australian Phenomics Network
(link to record)
|
Gene Symbol |
Ttc41
|
Ensembl Gene |
ENSMUSG00000044937 |
Gene Name |
tetratricopeptide repeat domain 41 |
Synonyms |
BC030307, Gnn |
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.115)
|
Stock # |
IGL02887
|
Quality Score |
|
Status
|
|
Chromosome |
10 |
Chromosomal Location |
86541675-86612708 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to T
at 86569518 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Tyrosine to Phenylalanine
at position 632
(Y632F)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000075059
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000075632]
[ENSMUST00000219108]
|
AlphaFold |
no structure available at present |
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000070435
|
SMART Domains |
Protein: ENSMUSP00000136633 Gene: ENSMUSG00000056366
Domain | Start | End | E-Value | Type |
Pfam:Lipocalin_7
|
3 |
133 |
6.5e-13 |
PFAM |
Pfam:Lipocalin
|
6 |
132 |
2.9e-31 |
PFAM |
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000075632
AA Change: Y632F
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000075059 Gene: ENSMUSG00000044937 AA Change: Y632F
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
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000219476
|
Coding Region Coverage |
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 86 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
1700017B05Rik |
A |
G |
9: 57,166,168 (GRCm39) |
Y69H |
probably damaging |
Het |
Afap1l2 |
A |
T |
19: 56,908,995 (GRCm39) |
S310R |
probably damaging |
Het |
Aldh7a1 |
A |
G |
18: 56,675,288 (GRCm39) |
|
probably benign |
Het |
Anxa8 |
T |
A |
14: 33,818,481 (GRCm39) |
|
probably null |
Het |
Ap1ar |
T |
C |
3: 127,602,192 (GRCm39) |
E282G |
probably damaging |
Het |
Arl6ip6 |
T |
G |
2: 53,092,939 (GRCm39) |
S155A |
probably benign |
Het |
Armc9 |
T |
C |
1: 86,092,557 (GRCm39) |
F107S |
probably damaging |
Het |
Ash1l |
C |
A |
3: 88,891,488 (GRCm39) |
D1122E |
probably benign |
Het |
Atp2b4 |
T |
A |
1: 133,656,512 (GRCm39) |
I713F |
probably damaging |
Het |
BC005624 |
A |
C |
2: 30,863,317 (GRCm39) |
|
probably benign |
Het |
Calcrl |
T |
C |
2: 84,169,586 (GRCm39) |
D365G |
probably benign |
Het |
Ccdc110 |
A |
G |
8: 46,396,221 (GRCm39) |
N704S |
probably benign |
Het |
Ccr10 |
G |
T |
11: 101,065,492 (GRCm39) |
L13I |
probably benign |
Het |
Cfap52 |
A |
G |
11: 67,844,341 (GRCm39) |
Y125H |
probably damaging |
Het |
Cnr2 |
C |
A |
4: 135,644,936 (GRCm39) |
T338K |
possibly damaging |
Het |
Cntn2 |
T |
A |
1: 132,444,308 (GRCm39) |
D935V |
probably damaging |
Het |
Cog7 |
T |
C |
7: 121,543,067 (GRCm39) |
K448R |
possibly damaging |
Het |
Csnk1g2 |
G |
A |
10: 80,474,369 (GRCm39) |
D197N |
probably damaging |
Het |
Cyp2e1 |
T |
A |
7: 140,343,824 (GRCm39) |
S21T |
probably damaging |
Het |
Dcaf11 |
T |
C |
14: 55,801,592 (GRCm39) |
F187L |
probably damaging |
Het |
Dmd |
T |
A |
X: 82,922,110 (GRCm39) |
F1460Y |
probably benign |
Het |
Dnah11 |
G |
A |
12: 117,874,775 (GRCm39) |
A4030V |
probably damaging |
Het |
Dnah7a |
A |
G |
1: 53,561,519 (GRCm39) |
V2046A |
possibly damaging |
Het |
Dnajc6 |
T |
C |
4: 101,496,497 (GRCm39) |
I820T |
probably damaging |
Het |
Dsel |
T |
C |
1: 111,788,462 (GRCm39) |
D691G |
possibly damaging |
Het |
Fbp1 |
T |
A |
13: 63,016,894 (GRCm39) |
M203L |
probably benign |
Het |
Fndc1 |
T |
C |
17: 7,992,470 (GRCm39) |
T409A |
unknown |
Het |
Golgb1 |
T |
G |
16: 36,746,211 (GRCm39) |
L2930R |
probably damaging |
Het |
Htr2a |
A |
G |
14: 74,882,583 (GRCm39) |
T190A |
probably benign |
Het |
Klra4 |
C |
T |
6: 130,021,033 (GRCm39) |
C254Y |
probably damaging |
Het |
Large1 |
A |
T |
8: 73,858,667 (GRCm39) |
V67E |
probably benign |
Het |
Lins1 |
T |
C |
7: 66,363,931 (GRCm39) |
S609P |
probably damaging |
Het |
Magi3 |
T |
C |
3: 104,002,473 (GRCm39) |
E156G |
probably damaging |
Het |
Mdh1b |
A |
G |
1: 63,754,523 (GRCm39) |
|
probably benign |
Het |
Mfsd6 |
T |
C |
1: 52,748,037 (GRCm39) |
D276G |
probably benign |
Het |
Myh9 |
T |
A |
15: 77,680,220 (GRCm39) |
K185* |
probably null |
Het |
Myof |
T |
C |
19: 37,909,227 (GRCm39) |
|
probably null |
Het |
Naip2 |
T |
G |
13: 100,298,020 (GRCm39) |
Y672S |
possibly damaging |
Het |
Nbeal1 |
A |
G |
1: 60,326,603 (GRCm39) |
|
probably benign |
Het |
Nbeal2 |
T |
A |
9: 110,457,344 (GRCm39) |
H2273L |
probably damaging |
Het |
Neb |
T |
C |
2: 52,090,733 (GRCm39) |
K1346E |
possibly damaging |
Het |
Nfatc2 |
T |
C |
2: 168,346,370 (GRCm39) |
D908G |
probably damaging |
Het |
Nlgn2 |
T |
C |
11: 69,718,080 (GRCm39) |
N375S |
probably benign |
Het |
Nova1 |
G |
T |
12: 46,767,505 (GRCm39) |
Q139K |
unknown |
Het |
Opa3 |
A |
T |
7: 18,962,507 (GRCm39) |
Q47L |
probably damaging |
Het |
Or10g7 |
T |
A |
9: 39,905,109 (GRCm39) |
M1K |
probably null |
Het |
Or2t47 |
A |
G |
11: 58,442,987 (GRCm39) |
L26P |
probably damaging |
Het |
Or6c205 |
T |
A |
10: 129,086,794 (GRCm39) |
Y130* |
probably null |
Het |
Pacs1 |
A |
T |
19: 5,185,138 (GRCm39) |
|
probably benign |
Het |
Pappa2 |
T |
A |
1: 158,609,829 (GRCm39) |
H1544L |
probably damaging |
Het |
Pax8 |
A |
G |
2: 24,334,627 (GRCm39) |
S48P |
probably damaging |
Het |
Pdilt |
T |
C |
7: 119,097,272 (GRCm39) |
N70S |
possibly damaging |
Het |
Poldip3 |
T |
C |
15: 83,013,469 (GRCm39) |
|
probably benign |
Het |
Ppp6r1 |
T |
A |
7: 4,645,211 (GRCm39) |
I80F |
probably damaging |
Het |
Pycr2 |
T |
A |
1: 180,732,304 (GRCm39) |
|
probably null |
Het |
Rapgef2 |
C |
T |
3: 78,976,187 (GRCm39) |
|
probably benign |
Het |
Rbm44 |
T |
A |
1: 91,080,902 (GRCm39) |
D363E |
probably damaging |
Het |
Rnf213 |
A |
T |
11: 119,318,336 (GRCm39) |
I1046F |
probably damaging |
Het |
Ryr2 |
A |
G |
13: 11,606,155 (GRCm39) |
S4476P |
probably damaging |
Het |
Scara5 |
G |
A |
14: 66,000,278 (GRCm39) |
D483N |
unknown |
Het |
Scmh1 |
T |
A |
4: 120,325,586 (GRCm39) |
F101Y |
probably damaging |
Het |
Sgo2a |
T |
A |
1: 58,055,511 (GRCm39) |
V565E |
probably damaging |
Het |
Simc1 |
T |
C |
13: 54,673,071 (GRCm39) |
M473T |
probably benign |
Het |
Skint6 |
T |
A |
4: 113,095,381 (GRCm39) |
R93* |
probably null |
Het |
Skint7 |
T |
C |
4: 111,839,375 (GRCm39) |
V223A |
possibly damaging |
Het |
Slc25a2 |
T |
C |
18: 37,770,939 (GRCm39) |
I197V |
probably benign |
Het |
Slit2 |
A |
G |
5: 48,374,816 (GRCm39) |
T361A |
probably benign |
Het |
Sugp1 |
G |
A |
8: 70,522,776 (GRCm39) |
G492D |
probably damaging |
Het |
Svep1 |
C |
T |
4: 58,145,301 (GRCm39) |
G388D |
probably damaging |
Het |
Tbpl2 |
G |
T |
2: 23,983,888 (GRCm39) |
A183E |
probably damaging |
Het |
Tcerg1l |
G |
T |
7: 137,831,619 (GRCm39) |
P453T |
probably damaging |
Het |
Tdpoz2 |
T |
C |
3: 93,559,046 (GRCm39) |
T309A |
probably benign |
Het |
Thbs4 |
T |
A |
13: 92,927,306 (GRCm39) |
Y61F |
probably benign |
Het |
Tmem117 |
C |
A |
15: 94,992,656 (GRCm39) |
P439T |
probably damaging |
Het |
Tmem151a |
A |
G |
19: 5,132,993 (GRCm39) |
V71A |
probably benign |
Het |
Tmem268 |
G |
T |
4: 63,486,691 (GRCm39) |
|
probably benign |
Het |
Tmem43 |
T |
A |
6: 91,454,356 (GRCm39) |
Y48N |
possibly damaging |
Het |
Tmigd1 |
T |
C |
11: 76,804,812 (GRCm39) |
V217A |
probably benign |
Het |
Tmprss11g |
A |
T |
5: 86,645,188 (GRCm39) |
|
probably benign |
Het |
Tsn |
T |
C |
1: 118,237,551 (GRCm39) |
I38V |
probably benign |
Het |
Vmn2r117 |
C |
T |
17: 23,694,552 (GRCm39) |
|
probably benign |
Het |
Vmn2r12 |
A |
T |
5: 109,238,351 (GRCm39) |
I463N |
probably benign |
Het |
Wdsub1 |
T |
A |
2: 59,683,176 (GRCm39) |
N466I |
probably damaging |
Het |
Zdhhc21 |
A |
T |
4: 82,762,427 (GRCm39) |
I56N |
probably benign |
Het |
Zfand4 |
A |
G |
6: 116,250,617 (GRCm39) |
T16A |
possibly damaging |
Het |
Zmym4 |
T |
C |
4: 126,842,268 (GRCm39) |
E15G |
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 |
|
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 |
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 |
|
Posted On |
2015-12-18 |