Incidental Mutation 'R7267:Skic3'
| ID |
565021 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Skic3
|
| Ensembl Gene |
ENSMUSG00000033991 |
| Gene Name |
SKI3 subunit of superkiller complex |
| Synonyms |
Ttc37 |
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.406)
|
| Stock # |
R7267 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
13 |
| Chromosomal Location |
76246853-76338435 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 76328196 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Methionine to Valine
at position 1415
(M1415V)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000089045
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000091466]
[ENSMUST00000224386]
|
| AlphaFold |
F8VPK0 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000091466
AA Change: M1415V
PolyPhen 2
Score 0.148 (Sensitivity: 0.92; Specificity: 0.87)
|
| SMART Domains |
Protein: ENSMUSP00000089045
Gene: ENSMUSG00000033991
AA Change: M1415V
| Domain | Start | End | E-Value | Type |
|---|
|
TPR
|
6 |
39 |
2.92e1 |
SMART |
|
TPR
|
40 |
73 |
1.1e-1 |
SMART |
|
TPR
|
272 |
305 |
9.45e0 |
SMART |
|
TPR
|
306 |
339 |
8.9e-2 |
SMART |
|
SEL1
|
420 |
451 |
1.45e2 |
SMART |
|
TPR
|
420 |
453 |
2.55e-2 |
SMART |
|
SEL1
|
454 |
490 |
1.15e1 |
SMART |
|
TPR
|
454 |
492 |
2.84e1 |
SMART |
|
TPR
|
493 |
527 |
1.92e1 |
SMART |
|
TPR
|
564 |
597 |
7.34e-3 |
SMART |
|
TPR
|
598 |
631 |
1.81e-2 |
SMART |
|
TPR
|
632 |
665 |
2.43e1 |
SMART |
|
low complexity region
|
728 |
739 |
N/A |
INTRINSIC |
|
SEL1
|
861 |
892 |
3.58e1 |
SMART |
|
TPR
|
861 |
894 |
2.14e-4 |
SMART |
|
TPR
|
980 |
1013 |
1.56e1 |
SMART |
|
Blast:TPR
|
1051 |
1084 |
7e-11 |
BLAST |
|
Blast:TPR
|
1088 |
1121 |
7e-10 |
BLAST |
|
TPR
|
1399 |
1432 |
4.31e0 |
SMART |
|
low complexity region
|
1438 |
1450 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000224386
AA Change: M1415V
PolyPhen 2
Score 0.148 (Sensitivity: 0.92; Specificity: 0.87)
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.6%
- 20x: 98.5%
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a protein with twenty tetratricopeptide (TPR) repeats. Tetratricopeptide repeat containing motifs are found in a variety of proteins and may mediate protein-protein interactions and chaperone activity. Mutations in this gene are associated with trichohepatoenteric syndrome. [provided by RefSeq, Jul 2010]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 73 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abcb5 |
A |
G |
12: 118,916,205 (GRCm39) |
I37T |
probably damaging |
Het |
| Ackr2 |
A |
G |
9: 121,737,874 (GRCm39) |
Y83C |
probably damaging |
Het |
| Adam19 |
C |
T |
11: 46,012,403 (GRCm39) |
Q300* |
probably null |
Het |
| Anxa7 |
C |
T |
14: 20,519,474 (GRCm39) |
A115T |
probably benign |
Het |
| Aoc1l3 |
AGGCCCAGCCTGATCCTAAATTTCCTATCCCCATCAGCAAAGGTGGCCCTCAAGTGGCCCAGCC |
AGGCCCAGCC |
6: 48,964,952 (GRCm39) |
|
probably benign |
Het |
| Atad2b |
A |
T |
12: 5,077,105 (GRCm39) |
R1109* |
probably null |
Het |
| Batf2 |
A |
G |
19: 6,221,396 (GRCm39) |
T69A |
probably benign |
Het |
| Best1 |
A |
G |
19: 9,964,177 (GRCm39) |
C428R |
probably benign |
Het |
| Birc6 |
A |
G |
17: 74,892,980 (GRCm39) |
T973A |
probably benign |
Het |
| Bmp2k |
C |
T |
5: 97,216,293 (GRCm39) |
T597I |
unknown |
Het |
| Bmpr1a |
G |
A |
14: 34,165,836 (GRCm39) |
P57L |
possibly damaging |
Het |
| Camk2d |
A |
T |
3: 126,591,379 (GRCm39) |
H283L |
possibly damaging |
Het |
| Cd86 |
CA |
CAA |
16: 36,426,917 (GRCm39) |
|
probably null |
Het |
| Ces1b |
C |
A |
8: 93,806,132 (GRCm39) |
K36N |
possibly damaging |
Het |
| Ces2a |
T |
A |
8: 105,465,672 (GRCm39) |
M308K |
probably benign |
Het |
| Ctnnd2 |
C |
A |
15: 30,683,501 (GRCm39) |
Q501K |
probably benign |
Het |
| Cyb561d1 |
T |
C |
3: 108,106,629 (GRCm39) |
T197A |
probably benign |
Het |
| Dedd2 |
C |
A |
7: 24,918,391 (GRCm39) |
A55S |
probably damaging |
Het |
| Dnah2 |
C |
T |
11: 69,391,643 (GRCm39) |
R684Q |
probably damaging |
Het |
| Elovl3 |
A |
G |
19: 46,122,979 (GRCm39) |
Y185C |
probably damaging |
Het |
| Fgf3 |
C |
T |
7: 144,392,569 (GRCm39) |
A42V |
probably damaging |
Het |
| Gabra5 |
A |
G |
7: 57,140,529 (GRCm39) |
L56P |
probably damaging |
Het |
| Gm19410 |
T |
G |
8: 36,281,997 (GRCm39) |
V1860G |
possibly damaging |
Het |
| Gm21663 |
G |
T |
5: 26,143,751 (GRCm39) |
N190K |
probably damaging |
Het |
| Grm3 |
T |
A |
5: 9,639,581 (GRCm39) |
I155L |
probably benign |
Het |
| Hadha |
A |
G |
5: 30,327,755 (GRCm39) |
I495T |
probably damaging |
Het |
| Herc4 |
C |
T |
10: 63,109,365 (GRCm39) |
A200V |
possibly damaging |
Het |
| Itga3 |
C |
A |
11: 94,967,188 (GRCm39) |
|
probably benign |
Het |
| Krt6a |
C |
T |
15: 101,602,289 (GRCm39) |
S132N |
probably benign |
Het |
| Lpar1 |
T |
C |
4: 58,486,857 (GRCm39) |
N138S |
possibly damaging |
Het |
| Lrrc42 |
T |
A |
4: 107,096,983 (GRCm39) |
T247S |
probably damaging |
Het |
| Man2b1 |
T |
A |
8: 85,813,804 (GRCm39) |
V256E |
probably damaging |
Het |
| Map3k4 |
G |
T |
17: 12,490,536 (GRCm39) |
Y298* |
probably null |
Het |
| Mars1 |
A |
G |
10: 127,144,455 (GRCm39) |
V195A |
probably benign |
Het |
| Mdm4 |
A |
T |
1: 132,922,311 (GRCm39) |
V278E |
probably benign |
Het |
| Mdp1 |
A |
G |
14: 55,897,544 (GRCm39) |
V37A |
probably damaging |
Het |
| Med13 |
A |
G |
11: 86,199,652 (GRCm39) |
I685T |
probably benign |
Het |
| Mobp |
A |
G |
9: 119,996,914 (GRCm39) |
N15S |
probably damaging |
Het |
| Nbn |
T |
A |
4: 15,979,320 (GRCm39) |
M435K |
probably benign |
Het |
| Nfs1 |
A |
G |
2: 155,965,703 (GRCm39) |
V126A |
probably benign |
Het |
| Npepl1 |
T |
A |
2: 173,963,909 (GRCm39) |
V480E |
probably damaging |
Het |
| Nr2e3 |
G |
A |
9: 59,855,972 (GRCm39) |
S155F |
possibly damaging |
Het |
| Oplah |
T |
C |
15: 76,189,209 (GRCm39) |
D278G |
probably benign |
Het |
| Or4c124 |
A |
T |
2: 89,156,157 (GRCm39) |
Y122* |
probably null |
Het |
| Or51q1c |
A |
G |
7: 103,653,046 (GRCm39) |
H188R |
probably benign |
Het |
| Pard3 |
T |
C |
8: 128,098,056 (GRCm39) |
Y366H |
probably damaging |
Het |
| Pcdhb11 |
A |
G |
18: 37,555,006 (GRCm39) |
N112S |
possibly damaging |
Het |
| Pde11a |
A |
G |
2: 76,168,189 (GRCm39) |
S255P |
probably damaging |
Het |
| Piezo1 |
T |
C |
8: 123,224,268 (GRCm39) |
H745R |
|
Het |
| Pkn2 |
A |
T |
3: 142,517,776 (GRCm39) |
S441T |
possibly damaging |
Het |
| Pld1 |
A |
C |
3: 28,130,550 (GRCm39) |
H450P |
probably damaging |
Het |
| Plekhs1 |
T |
A |
19: 56,459,209 (GRCm39) |
H22Q |
probably damaging |
Het |
| Prss44 |
A |
C |
9: 110,645,611 (GRCm39) |
Y285S |
probably damaging |
Het |
| Qpctl |
T |
C |
7: 18,878,852 (GRCm39) |
E249G |
probably benign |
Het |
| Rcsd1 |
A |
T |
1: 165,491,185 (GRCm39) |
S50T |
probably damaging |
Het |
| Runx2 |
G |
A |
17: 45,125,079 (GRCm39) |
P80L |
probably damaging |
Het |
| Scube1 |
T |
A |
15: 83,505,266 (GRCm39) |
N496Y |
probably damaging |
Het |
| Slc16a8 |
AGGCC |
A |
15: 79,136,125 (GRCm39) |
|
probably null |
Het |
| Slc38a4 |
T |
A |
15: 96,903,781 (GRCm39) |
T407S |
probably benign |
Het |
| Slc51a |
T |
G |
16: 32,298,590 (GRCm39) |
I56L |
probably benign |
Het |
| Slc6a18 |
T |
G |
13: 73,819,755 (GRCm39) |
I272L |
probably damaging |
Het |
| Sorl1 |
A |
G |
9: 42,035,375 (GRCm39) |
L12P |
possibly damaging |
Het |
| Sycp2l |
A |
T |
13: 41,300,070 (GRCm39) |
D428V |
possibly damaging |
Het |
| Syne1 |
C |
T |
10: 5,178,218 (GRCm39) |
R4752Q |
probably damaging |
Het |
| Tbc1d9 |
C |
A |
8: 83,997,957 (GRCm39) |
H1171Q |
probably damaging |
Het |
| Thsd1 |
G |
A |
8: 22,733,597 (GRCm39) |
V215I |
probably benign |
Het |
| Tmem143 |
T |
A |
7: 45,557,598 (GRCm39) |
M208K |
probably benign |
Het |
| Tmem63b |
C |
T |
17: 45,977,048 (GRCm39) |
V440I |
probably benign |
Het |
| Tnik |
A |
T |
3: 28,700,776 (GRCm39) |
S918C |
probably damaging |
Het |
| Ttn |
A |
G |
2: 76,733,751 (GRCm39) |
I4508T |
unknown |
Het |
| Vav2 |
A |
G |
2: 27,173,334 (GRCm39) |
F497L |
probably damaging |
Het |
| Zc3h14 |
G |
A |
12: 98,751,988 (GRCm39) |
R730Q |
probably damaging |
Het |
| Zfp560 |
G |
A |
9: 20,259,384 (GRCm39) |
H493Y |
probably damaging |
Het |
|
| Other mutations in Skic3 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00159:Skic3
|
APN |
13 |
76,291,397 (GRCm39) |
critical splice donor site |
probably null |
|
|
IGL00650:Skic3
|
APN |
13 |
76,275,626 (GRCm39) |
missense |
possibly damaging |
0.89 |
|
IGL00838:Skic3
|
APN |
13 |
76,282,910 (GRCm39) |
missense |
probably damaging |
0.99 |
|
IGL00958:Skic3
|
APN |
13 |
76,270,864 (GRCm39) |
missense |
probably damaging |
0.98 |
|
IGL01011:Skic3
|
APN |
13 |
76,270,784 (GRCm39) |
missense |
probably damaging |
0.97 |
|
IGL01062:Skic3
|
APN |
13 |
76,303,581 (GRCm39) |
nonsense |
probably null |
|
|
IGL01319:Skic3
|
APN |
13 |
76,277,498 (GRCm39) |
missense |
probably benign |
0.29 |
|
IGL01697:Skic3
|
APN |
13 |
76,276,852 (GRCm39) |
missense |
probably benign |
0.01 |
|
IGL02061:Skic3
|
APN |
13 |
76,277,660 (GRCm39) |
critical splice donor site |
probably null |
|
|
IGL02184:Skic3
|
APN |
13 |
76,259,810 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02309:Skic3
|
APN |
13 |
76,275,166 (GRCm39) |
missense |
possibly damaging |
0.90 |
|
IGL03230:Skic3
|
APN |
13 |
76,303,766 (GRCm39) |
splice site |
probably benign |
|
|
IGL03354:Skic3
|
APN |
13 |
76,330,941 (GRCm39) |
missense |
possibly damaging |
0.71 |
|
caviar
|
UTSW |
13 |
76,295,886 (GRCm39) |
missense |
possibly damaging |
0.54 |
|
gourmet
|
UTSW |
13 |
76,298,638 (GRCm39) |
missense |
probably damaging |
1.00 |
|
tartare
|
UTSW |
13 |
76,333,298 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R0501:Skic3
|
UTSW |
13 |
76,295,925 (GRCm39) |
missense |
probably benign |
|
|
R0628:Skic3
|
UTSW |
13 |
76,298,848 (GRCm39) |
missense |
possibly damaging |
0.89 |
|
R0711:Skic3
|
UTSW |
13 |
76,331,010 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0928:Skic3
|
UTSW |
13 |
76,261,711 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1402:Skic3
|
UTSW |
13 |
76,279,533 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1402:Skic3
|
UTSW |
13 |
76,279,533 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1524:Skic3
|
UTSW |
13 |
76,286,491 (GRCm39) |
missense |
probably benign |
0.01 |
|
R1628:Skic3
|
UTSW |
13 |
76,259,910 (GRCm39) |
missense |
possibly damaging |
0.75 |
|
R1702:Skic3
|
UTSW |
13 |
76,270,862 (GRCm39) |
missense |
possibly damaging |
0.66 |
|
R1750:Skic3
|
UTSW |
13 |
76,288,720 (GRCm39) |
missense |
possibly damaging |
0.89 |
|
R1822:Skic3
|
UTSW |
13 |
76,278,407 (GRCm39) |
missense |
probably benign |
0.35 |
|
R1885:Skic3
|
UTSW |
13 |
76,278,354 (GRCm39) |
missense |
probably benign |
0.11 |
|
R1885:Skic3
|
UTSW |
13 |
76,261,166 (GRCm39) |
missense |
probably benign |
0.00 |
|
R1923:Skic3
|
UTSW |
13 |
76,282,889 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1978:Skic3
|
UTSW |
13 |
76,282,934 (GRCm39) |
missense |
probably benign |
0.00 |
|
R2040:Skic3
|
UTSW |
13 |
76,328,222 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2136:Skic3
|
UTSW |
13 |
76,321,473 (GRCm39) |
missense |
possibly damaging |
0.87 |
|
R2268:Skic3
|
UTSW |
13 |
76,260,393 (GRCm39) |
unclassified |
probably benign |
|
|
R2483:Skic3
|
UTSW |
13 |
76,330,986 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2988:Skic3
|
UTSW |
13 |
76,303,808 (GRCm39) |
missense |
probably benign |
0.11 |
|
R3701:Skic3
|
UTSW |
13 |
76,261,798 (GRCm39) |
missense |
probably benign |
|
|
R3951:Skic3
|
UTSW |
13 |
76,278,338 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4405:Skic3
|
UTSW |
13 |
76,303,784 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R4411:Skic3
|
UTSW |
13 |
76,275,623 (GRCm39) |
missense |
possibly damaging |
0.89 |
|
R4957:Skic3
|
UTSW |
13 |
76,333,232 (GRCm39) |
splice site |
probably null |
|
|
R4960:Skic3
|
UTSW |
13 |
76,333,275 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R4993:Skic3
|
UTSW |
13 |
76,331,055 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R5206:Skic3
|
UTSW |
13 |
76,295,886 (GRCm39) |
missense |
possibly damaging |
0.54 |
|
R5208:Skic3
|
UTSW |
13 |
76,295,886 (GRCm39) |
missense |
possibly damaging |
0.54 |
|
R5302:Skic3
|
UTSW |
13 |
76,295,886 (GRCm39) |
missense |
possibly damaging |
0.54 |
|
R5305:Skic3
|
UTSW |
13 |
76,295,886 (GRCm39) |
missense |
possibly damaging |
0.54 |
|
R5306:Skic3
|
UTSW |
13 |
76,295,886 (GRCm39) |
missense |
possibly damaging |
0.54 |
|
R5579:Skic3
|
UTSW |
13 |
76,333,319 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5618:Skic3
|
UTSW |
13 |
76,321,545 (GRCm39) |
missense |
probably benign |
|
|
R5726:Skic3
|
UTSW |
13 |
76,266,466 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5813:Skic3
|
UTSW |
13 |
76,303,852 (GRCm39) |
missense |
probably benign |
0.05 |
|
R5899:Skic3
|
UTSW |
13 |
76,259,938 (GRCm39) |
splice site |
probably null |
|
|
R6146:Skic3
|
UTSW |
13 |
76,333,359 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6224:Skic3
|
UTSW |
13 |
76,266,410 (GRCm39) |
missense |
probably benign |
0.02 |
|
R6286:Skic3
|
UTSW |
13 |
76,291,359 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6402:Skic3
|
UTSW |
13 |
76,283,389 (GRCm39) |
missense |
probably benign |
0.05 |
|
R6561:Skic3
|
UTSW |
13 |
76,298,638 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6808:Skic3
|
UTSW |
13 |
76,333,298 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R7054:Skic3
|
UTSW |
13 |
76,283,079 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7261:Skic3
|
UTSW |
13 |
76,261,698 (GRCm39) |
missense |
probably benign |
0.30 |
|
R7348:Skic3
|
UTSW |
13 |
76,331,003 (GRCm39) |
missense |
possibly damaging |
0.82 |
|
R7384:Skic3
|
UTSW |
13 |
76,298,854 (GRCm39) |
missense |
possibly damaging |
0.53 |
|
R7404:Skic3
|
UTSW |
13 |
76,296,866 (GRCm39) |
nonsense |
probably null |
|
|
R7421:Skic3
|
UTSW |
13 |
76,296,944 (GRCm39) |
missense |
probably benign |
0.12 |
|
R7546:Skic3
|
UTSW |
13 |
76,282,954 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7771:Skic3
|
UTSW |
13 |
76,283,149 (GRCm39) |
missense |
probably benign |
0.21 |
|
R7960:Skic3
|
UTSW |
13 |
76,260,318 (GRCm39) |
missense |
probably benign |
0.03 |
|
R8125:Skic3
|
UTSW |
13 |
76,278,446 (GRCm39) |
critical splice donor site |
probably null |
|
|
R8136:Skic3
|
UTSW |
13 |
76,261,222 (GRCm39) |
missense |
probably benign |
0.00 |
|
R8680:Skic3
|
UTSW |
13 |
76,303,587 (GRCm39) |
missense |
probably benign |
0.01 |
|
R8697:Skic3
|
UTSW |
13 |
76,328,274 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8867:Skic3
|
UTSW |
13 |
76,279,428 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R8872:Skic3
|
UTSW |
13 |
76,333,326 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8876:Skic3
|
UTSW |
13 |
76,323,403 (GRCm39) |
missense |
probably benign |
0.12 |
|
R8912:Skic3
|
UTSW |
13 |
76,305,361 (GRCm39) |
splice site |
probably benign |
|
|
R9174:Skic3
|
UTSW |
13 |
76,295,893 (GRCm39) |
missense |
probably benign |
0.00 |
|
R9334:Skic3
|
UTSW |
13 |
76,281,076 (GRCm39) |
missense |
possibly damaging |
0.65 |
|
R9389:Skic3
|
UTSW |
13 |
76,275,158 (GRCm39) |
missense |
probably benign |
0.02 |
|
R9422:Skic3
|
UTSW |
13 |
76,278,447 (GRCm39) |
splice site |
probably benign |
|
|
R9443:Skic3
|
UTSW |
13 |
76,266,288 (GRCm39) |
missense |
probably benign |
0.01 |
|
R9545:Skic3
|
UTSW |
13 |
76,259,832 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9596:Skic3
|
UTSW |
13 |
76,330,968 (GRCm39) |
missense |
possibly damaging |
0.64 |
|
X0067:Skic3
|
UTSW |
13 |
76,281,052 (GRCm39) |
missense |
probably benign |
0.05 |
|
| Predicted Primers |
PCR Primer
(F):5'- ACTGTGTGACTACCCTCCTT -3'
(R):5'- ATCACTTTGTGAAAGGTTGTGTAA -3'
Sequencing Primer
(F):5'- CTCCTTTTTGGGAACATGAGAC -3'
(R):5'- TATGAGACCCCTTAGAACTTGCGG -3'
|
| Posted On |
2019-06-26 |
Incidental Mutation