Incidental Mutation 'R0501:Skic3'
ID |
47151 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Skic3
|
Ensembl Gene |
ENSMUSG00000033991 |
Gene Name |
SKI3 subunit of superkiller complex |
Synonyms |
Ttc37 |
MMRRC Submission |
038696-MU
|
Accession Numbers |
|
Essential gene? |
Possibly non essential
(E-score: 0.406)
|
Stock # |
R0501 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
13 |
Chromosomal Location |
76246853-76338435 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to C
at 76295925 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Methionine to Leucine
at position 1063
(M1063L)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000153521
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000091466]
[ENSMUST00000224386]
|
AlphaFold |
F8VPK0 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000091466
AA Change: M1063L
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
SMART Domains |
Protein: ENSMUSP00000089045 Gene: ENSMUSG00000033991 AA Change: M1063L
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 |
noncoding transcript
Transcript: ENSMUST00000224289
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000224386
AA Change: M1063L
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
Coding Region Coverage |
- 1x: 99.7%
- 3x: 98.9%
- 10x: 97.0%
- 20x: 94.2%
|
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: 84 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
1700030K09Rik |
T |
C |
8: 73,209,216 (GRCm39) |
S415P |
probably benign |
Het |
Adam19 |
C |
T |
11: 46,013,957 (GRCm39) |
P316S |
probably damaging |
Het |
Adamts2 |
A |
G |
11: 50,558,972 (GRCm39) |
D229G |
probably benign |
Het |
Adcy10 |
C |
T |
1: 165,337,959 (GRCm39) |
P191L |
probably damaging |
Het |
Adgrv1 |
T |
C |
13: 81,707,269 (GRCm39) |
Y1379C |
probably damaging |
Het |
Akap9 |
T |
C |
5: 4,020,685 (GRCm39) |
L1132P |
probably damaging |
Het |
Aoah |
A |
G |
13: 21,189,243 (GRCm39) |
T489A |
probably benign |
Het |
Apc2 |
T |
C |
10: 80,150,958 (GRCm39) |
L1975P |
probably damaging |
Het |
Bpifa5 |
A |
T |
2: 154,005,616 (GRCm39) |
D66V |
probably benign |
Het |
C230029F24Rik |
T |
C |
1: 49,374,629 (GRCm39) |
|
noncoding transcript |
Het |
Cacna1h |
A |
T |
17: 25,607,641 (GRCm39) |
V892E |
probably damaging |
Het |
Car4 |
G |
A |
11: 84,854,268 (GRCm39) |
V72I |
probably benign |
Het |
Cfap91 |
C |
G |
16: 38,155,997 (GRCm39) |
M75I |
probably damaging |
Het |
Chst3 |
A |
G |
10: 60,022,049 (GRCm39) |
L266P |
probably damaging |
Het |
Ckap2l |
G |
A |
2: 129,127,411 (GRCm39) |
R256W |
possibly damaging |
Het |
Cntn4 |
A |
T |
6: 106,595,296 (GRCm39) |
D471V |
probably damaging |
Het |
Cntrob |
G |
A |
11: 69,213,694 (GRCm39) |
S32F |
probably damaging |
Het |
Cpne7 |
T |
A |
8: 123,852,994 (GRCm39) |
N200K |
possibly damaging |
Het |
Creb3l3 |
C |
A |
10: 80,922,416 (GRCm39) |
M271I |
probably benign |
Het |
Csmd1 |
T |
A |
8: 17,077,339 (GRCm39) |
Q106L |
probably damaging |
Het |
D7Ertd443e |
G |
A |
7: 133,896,701 (GRCm39) |
T563I |
probably damaging |
Het |
Dmac1 |
T |
G |
4: 75,196,413 (GRCm39) |
N26H |
unknown |
Het |
Dop1b |
T |
C |
16: 93,549,750 (GRCm39) |
F230L |
probably benign |
Het |
Dpp6 |
T |
A |
5: 27,930,604 (GRCm39) |
I812N |
probably damaging |
Het |
Fabp12 |
T |
C |
3: 10,315,203 (GRCm39) |
D48G |
probably benign |
Het |
Fbn1 |
G |
A |
2: 125,143,669 (GRCm39) |
T2820M |
probably benign |
Het |
Fcho1 |
C |
T |
8: 72,165,204 (GRCm39) |
A418T |
probably benign |
Het |
Fcho2 |
A |
T |
13: 98,901,023 (GRCm39) |
S277R |
possibly damaging |
Het |
Fmo2 |
A |
G |
1: 162,704,497 (GRCm39) |
S470P |
probably benign |
Het |
Gm17541 |
T |
G |
12: 4,739,730 (GRCm39) |
|
probably benign |
Het |
Gm4353 |
A |
T |
7: 115,682,706 (GRCm39) |
Y292N |
probably benign |
Het |
Igkv4-71 |
A |
T |
6: 69,220,290 (GRCm39) |
I69N |
probably damaging |
Het |
Insrr |
G |
T |
3: 87,717,991 (GRCm39) |
A871S |
probably benign |
Het |
Irs2 |
C |
T |
8: 11,056,396 (GRCm39) |
V679M |
probably damaging |
Het |
Itpr3 |
T |
A |
17: 27,326,263 (GRCm39) |
H1344Q |
probably benign |
Het |
Kcnma1 |
T |
C |
14: 23,361,784 (GRCm39) |
M1074V |
possibly damaging |
Het |
Kif1a |
G |
A |
1: 92,983,967 (GRCm39) |
R602W |
probably damaging |
Het |
Kif21b |
A |
T |
1: 136,090,837 (GRCm39) |
D1215V |
probably benign |
Het |
Mapk13 |
G |
A |
17: 28,995,327 (GRCm39) |
V183M |
probably damaging |
Het |
Mbp |
C |
T |
18: 82,593,322 (GRCm39) |
S100F |
probably damaging |
Het |
Mcm6 |
A |
G |
1: 128,283,373 (GRCm39) |
I44T |
probably benign |
Het |
Ncor1 |
T |
A |
11: 62,264,148 (GRCm39) |
D418V |
possibly damaging |
Het |
Nid2 |
T |
A |
14: 19,839,736 (GRCm39) |
|
probably null |
Het |
Nolc1 |
T |
C |
19: 46,067,359 (GRCm39) |
V80A |
probably damaging |
Het |
Or10a5 |
A |
T |
7: 106,635,439 (GRCm39) |
T26S |
probably benign |
Het |
Or10ak14 |
C |
A |
4: 118,611,027 (GRCm39) |
C238F |
probably benign |
Het |
Or12e9 |
A |
T |
2: 87,201,896 (GRCm39) |
R7W |
probably damaging |
Het |
Or13e8 |
A |
C |
4: 43,697,079 (GRCm39) |
C31W |
probably damaging |
Het |
Or1j1 |
A |
T |
2: 36,702,492 (GRCm39) |
L204* |
probably null |
Het |
Or2ag1 |
A |
T |
7: 106,313,810 (GRCm39) |
M26K |
probably benign |
Het |
Or2ag18 |
G |
A |
7: 106,405,018 (GRCm39) |
S217F |
probably damaging |
Het |
Or4a68 |
T |
C |
2: 89,270,060 (GRCm39) |
T188A |
probably benign |
Het |
Or4e1 |
T |
A |
14: 52,701,383 (GRCm39) |
M1L |
possibly damaging |
Het |
Or5d14 |
A |
T |
2: 87,880,815 (GRCm39) |
I51N |
probably damaging |
Het |
Or5m12 |
A |
G |
2: 85,735,348 (GRCm39) |
F17L |
probably damaging |
Het |
Or7g35 |
T |
A |
9: 19,495,914 (GRCm39) |
I27N |
probably damaging |
Het |
Pcgf3 |
T |
A |
5: 108,622,978 (GRCm39) |
C38S |
probably damaging |
Het |
Pdia4 |
A |
T |
6: 47,777,936 (GRCm39) |
V352E |
probably damaging |
Het |
Pik3c2a |
C |
A |
7: 115,953,290 (GRCm39) |
V1202L |
probably damaging |
Het |
Rbm15 |
G |
T |
3: 107,239,846 (GRCm39) |
A184E |
possibly damaging |
Het |
Rsph3a |
T |
A |
17: 8,197,952 (GRCm39) |
L442* |
probably null |
Het |
Scg2 |
G |
C |
1: 79,413,320 (GRCm39) |
L468V |
probably damaging |
Het |
Sdk1 |
A |
T |
5: 141,923,473 (GRCm39) |
I365L |
probably benign |
Het |
Setdb1 |
A |
G |
3: 95,246,140 (GRCm39) |
V595A |
probably benign |
Het |
Slc22a22 |
T |
A |
15: 57,113,046 (GRCm39) |
T398S |
probably benign |
Het |
Stk11 |
C |
A |
10: 79,962,119 (GRCm39) |
P217Q |
probably damaging |
Het |
Tes |
G |
A |
6: 17,097,557 (GRCm39) |
D222N |
probably benign |
Het |
Tmem132e |
T |
A |
11: 82,325,894 (GRCm39) |
I206N |
possibly damaging |
Het |
Tmem214 |
G |
T |
5: 31,029,876 (GRCm39) |
R251L |
probably damaging |
Het |
Tmem253 |
T |
A |
14: 52,256,036 (GRCm39) |
I105N |
probably damaging |
Het |
Toe1 |
A |
G |
4: 116,664,682 (GRCm39) |
V12A |
probably benign |
Het |
Top1 |
C |
A |
2: 160,556,079 (GRCm39) |
H513N |
probably damaging |
Het |
Tph1 |
G |
T |
7: 46,299,412 (GRCm39) |
Y376* |
probably null |
Het |
Trim45 |
T |
A |
3: 100,830,535 (GRCm39) |
L103Q |
probably damaging |
Het |
Ttn |
T |
A |
2: 76,774,518 (GRCm39) |
|
probably null |
Het |
Twnk |
T |
C |
19: 44,996,185 (GRCm39) |
V206A |
probably damaging |
Het |
Ube2z |
A |
G |
11: 95,941,114 (GRCm39) |
S343P |
probably damaging |
Het |
Vmn2r8 |
T |
C |
5: 108,951,049 (GRCm39) |
D132G |
probably benign |
Het |
Wdr20rt |
A |
T |
12: 65,272,581 (GRCm39) |
T15S |
probably benign |
Het |
Wdr59 |
C |
T |
8: 112,185,579 (GRCm39) |
R841Q |
possibly damaging |
Het |
Wdtc1 |
A |
G |
4: 133,036,151 (GRCm39) |
F130L |
possibly damaging |
Het |
Wnk1 |
C |
T |
6: 119,939,764 (GRCm39) |
R43Q |
probably damaging |
Het |
Ythdf3 |
T |
C |
3: 16,259,236 (GRCm39) |
L461P |
probably damaging |
Het |
Zcchc2 |
T |
G |
1: 105,943,821 (GRCm39) |
F462C |
possibly 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 |
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 |
R7267:Skic3
|
UTSW |
13 |
76,328,196 (GRCm39) |
missense |
probably benign |
0.15 |
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'- GGAAAACAGGTGCAGTCAGATCCTC -3'
(R):5'- AGCCTTCTCAAAAGTCCAACTGACG -3'
Sequencing Primer
(F):5'- GGTGCAGTCAGATCCTCTCTATG -3'
(R):5'- ttcccagcatccacacag -3'
|
Posted On |
2013-06-12 |