Incidental Mutation 'R1885:Skic3'
ID |
209478 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Skic3
|
Ensembl Gene |
ENSMUSG00000033991 |
Gene Name |
SKI3 subunit of superkiller complex |
Synonyms |
Ttc37 |
MMRRC Submission |
039906-MU
|
Accession Numbers |
|
Essential gene? |
Possibly non essential
(E-score: 0.377)
|
Stock # |
R1885 (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 T
at 76261166 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Arginine to Serine
at position 112
(R112S)
|
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: R112S
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
SMART Domains |
Protein: ENSMUSP00000089045 Gene: ENSMUSG00000033991 AA Change: R112S
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: R112S
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000224790
|
Coding Region Coverage |
- 1x: 97.0%
- 3x: 96.1%
- 10x: 92.7%
- 20x: 85.1%
|
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: 83 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
1700102P08Rik |
T |
A |
9: 108,270,809 (GRCm39) |
D124E |
possibly damaging |
Het |
Aarsd1 |
T |
C |
11: 101,302,227 (GRCm39) |
T278A |
probably benign |
Het |
Acox2 |
C |
T |
14: 8,248,102 (GRCm38) |
M393I |
probably benign |
Het |
Adcy10 |
A |
G |
1: 165,398,377 (GRCm39) |
I1491M |
probably benign |
Het |
Adcy3 |
T |
A |
12: 4,184,951 (GRCm39) |
V209E |
probably damaging |
Het |
Adora3 |
A |
C |
3: 105,812,152 (GRCm39) |
N13H |
possibly damaging |
Het |
Ap2b1 |
T |
A |
11: 83,281,561 (GRCm39) |
N822K |
probably damaging |
Het |
Apobec3 |
A |
T |
15: 79,781,906 (GRCm39) |
H82L |
probably damaging |
Het |
Atg9b |
A |
T |
5: 24,593,252 (GRCm39) |
W384R |
probably damaging |
Het |
Atp8a1 |
A |
G |
5: 67,904,661 (GRCm39) |
V506A |
possibly damaging |
Het |
Atxn1 |
G |
T |
13: 45,721,280 (GRCm39) |
A205D |
probably benign |
Het |
B4galnt3 |
T |
C |
6: 120,200,601 (GRCm39) |
E223G |
probably damaging |
Het |
Brip1 |
C |
A |
11: 86,029,641 (GRCm39) |
G631V |
probably damaging |
Het |
Cacna1i |
A |
G |
15: 80,243,145 (GRCm39) |
E434G |
probably damaging |
Het |
Caprin2 |
A |
T |
6: 148,779,383 (GRCm39) |
|
probably null |
Het |
Cblif |
G |
A |
19: 11,729,688 (GRCm39) |
A216T |
probably benign |
Het |
Ccdc80 |
A |
C |
16: 44,917,083 (GRCm39) |
D613A |
probably benign |
Het |
Ccdc81 |
T |
C |
7: 89,515,819 (GRCm39) |
E620G |
possibly damaging |
Het |
Cdhr18 |
A |
C |
14: 13,828,607 (GRCm38) |
Y718D |
probably damaging |
Het |
Cebpz |
A |
T |
17: 79,239,545 (GRCm39) |
D625E |
probably benign |
Het |
Coq6 |
C |
A |
12: 84,419,238 (GRCm39) |
N388K |
probably damaging |
Het |
Cracd |
A |
G |
5: 77,004,589 (GRCm39) |
T317A |
unknown |
Het |
D430041D05Rik |
T |
C |
2: 104,060,800 (GRCm39) |
M1365V |
probably benign |
Het |
Dab1 |
C |
T |
4: 104,588,948 (GRCm39) |
A524V |
probably benign |
Het |
Dap3 |
A |
G |
3: 88,838,281 (GRCm39) |
L86P |
probably damaging |
Het |
Dpysl4 |
T |
G |
7: 138,676,723 (GRCm39) |
V391G |
probably damaging |
Het |
Dyrk4 |
G |
T |
6: 126,854,144 (GRCm39) |
Q550K |
probably benign |
Het |
Epas1 |
A |
G |
17: 87,112,723 (GRCm39) |
D107G |
probably damaging |
Het |
Esrp2 |
A |
G |
8: 106,858,453 (GRCm39) |
V636A |
possibly damaging |
Het |
Etl4 |
T |
A |
2: 20,748,795 (GRCm39) |
Y176N |
probably damaging |
Het |
Etnppl |
T |
C |
3: 130,423,111 (GRCm39) |
V264A |
probably benign |
Het |
Ezhip |
GTCATCATCATCATC |
GTCATCATCATCATCATC |
X: 5,994,645 (GRCm39) |
|
probably benign |
Het |
Fer |
T |
A |
17: 64,445,909 (GRCm39) |
V790D |
probably damaging |
Het |
Gdpd5 |
G |
A |
7: 99,109,204 (GRCm39) |
V575I |
probably benign |
Het |
Gfus |
G |
T |
15: 75,798,838 (GRCm39) |
T123N |
possibly damaging |
Het |
Gipc3 |
T |
C |
10: 81,177,181 (GRCm39) |
I130V |
probably benign |
Het |
Iqsec3 |
G |
A |
6: 121,405,326 (GRCm39) |
|
probably benign |
Het |
Kdm5d |
G |
T |
Y: 940,781 (GRCm39) |
|
probably null |
Het |
Kl |
A |
G |
5: 150,876,959 (GRCm39) |
R260G |
possibly damaging |
Het |
Kras |
T |
C |
6: 145,177,843 (GRCm39) |
E143G |
probably damaging |
Het |
Ksr1 |
T |
C |
11: 78,927,347 (GRCm39) |
T329A |
probably damaging |
Het |
Ksr1 |
C |
A |
11: 78,911,204 (GRCm39) |
V11F |
probably null |
Het |
Marchf6 |
A |
G |
15: 31,502,952 (GRCm39) |
V83A |
probably benign |
Het |
Mettl2 |
T |
C |
11: 105,022,446 (GRCm39) |
I212T |
possibly damaging |
Het |
Mgat3 |
A |
G |
15: 80,095,820 (GRCm39) |
I216V |
probably benign |
Het |
Mkrn3 |
G |
A |
7: 62,068,486 (GRCm39) |
A435V |
probably benign |
Het |
Mlh1 |
C |
A |
9: 111,087,624 (GRCm39) |
S24I |
probably benign |
Het |
Mmel1 |
G |
A |
4: 154,975,333 (GRCm39) |
R424Q |
possibly damaging |
Het |
Mob3a |
G |
A |
10: 80,527,068 (GRCm39) |
Q86* |
probably null |
Het |
Myh3 |
A |
G |
11: 66,977,453 (GRCm39) |
K368E |
probably benign |
Het |
Myo16 |
T |
A |
8: 10,372,656 (GRCm39) |
N118K |
probably damaging |
Het |
Myo5c |
A |
G |
9: 75,157,043 (GRCm39) |
S160G |
probably damaging |
Het |
Nat1 |
A |
T |
8: 67,943,653 (GRCm39) |
I13F |
probably damaging |
Het |
Ncoa7 |
T |
C |
10: 30,524,448 (GRCm39) |
N823S |
possibly damaging |
Het |
Nwd1 |
T |
C |
8: 73,431,622 (GRCm39) |
S1207P |
probably benign |
Het |
Or2y17 |
T |
C |
11: 49,231,662 (GRCm39) |
L101P |
probably damaging |
Het |
Or4k49 |
G |
T |
2: 111,495,099 (GRCm39) |
S176I |
probably damaging |
Het |
Or5p57 |
T |
C |
7: 107,665,985 (GRCm39) |
N7D |
probably benign |
Het |
Or5w22 |
T |
C |
2: 87,363,168 (GRCm39) |
S264P |
probably damaging |
Het |
Paqr8 |
A |
T |
1: 21,005,704 (GRCm39) |
H286L |
probably damaging |
Het |
Pdzd4 |
G |
A |
X: 72,839,052 (GRCm39) |
R419C |
probably damaging |
Het |
Pes1 |
A |
G |
11: 3,919,482 (GRCm39) |
K52E |
probably damaging |
Het |
Ppp1r13l |
T |
C |
7: 19,111,496 (GRCm39) |
S774P |
probably damaging |
Het |
Robo2 |
T |
C |
16: 73,713,033 (GRCm39) |
D1283G |
probably benign |
Het |
Rp1l1 |
T |
C |
14: 64,265,839 (GRCm39) |
V475A |
probably benign |
Het |
Scml4 |
A |
G |
10: 42,788,223 (GRCm39) |
Y51C |
probably damaging |
Het |
Slc2a4 |
C |
T |
11: 69,835,833 (GRCm39) |
V339I |
probably benign |
Het |
Slc39a6 |
G |
A |
18: 24,734,539 (GRCm39) |
|
probably null |
Het |
Slco1b2 |
A |
T |
6: 141,628,951 (GRCm39) |
Y551F |
probably damaging |
Het |
Snx33 |
T |
C |
9: 56,833,121 (GRCm39) |
H316R |
probably benign |
Het |
Spata31d1a |
T |
G |
13: 59,849,821 (GRCm39) |
D769A |
probably damaging |
Het |
Stmn2 |
A |
T |
3: 8,606,964 (GRCm39) |
E28V |
probably damaging |
Het |
Syt9 |
A |
G |
7: 107,035,736 (GRCm39) |
D251G |
probably damaging |
Het |
Tjap1 |
T |
C |
17: 46,573,347 (GRCm39) |
T37A |
probably damaging |
Het |
Tmc7 |
A |
T |
7: 118,160,310 (GRCm39) |
F176I |
possibly damaging |
Het |
Tprg1 |
A |
G |
16: 25,231,641 (GRCm39) |
T206A |
probably benign |
Het |
Ubqlnl |
A |
T |
7: 103,799,272 (GRCm39) |
M75K |
possibly damaging |
Het |
Vmn2r115 |
ATCTTCT |
ATCT |
17: 23,578,962 (GRCm39) |
|
probably benign |
Het |
Vmn2r12 |
C |
T |
5: 109,239,942 (GRCm39) |
G207E |
probably damaging |
Het |
Xrn2 |
T |
G |
2: 146,891,281 (GRCm39) |
L697* |
probably null |
Het |
Zfp764 |
A |
G |
7: 127,004,211 (GRCm39) |
F307L |
probably benign |
Het |
Zfp804b |
T |
C |
5: 6,820,376 (GRCm39) |
R860G |
probably damaging |
Het |
Zranb2 |
A |
T |
3: 157,248,793 (GRCm39) |
|
probably null |
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 |
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'- CATTTCTTCCAGAAGTTTGTCACAG -3'
(R):5'- GCTCCACAAGTACACTTCTTAGG -3'
Sequencing Primer
(F):5'- TTGTGGTTGAAATAGACTGAAAAGAC -3'
(R):5'- CACTTCTTAGGAAACTTAAGCTAGTG -3'
|
Posted On |
2014-06-30 |