Incidental Mutation 'R1628:Skic3'
| ID |
172638 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Skic3
|
| Ensembl Gene |
ENSMUSG00000033991 |
| Gene Name |
SKI3 subunit of superkiller complex |
| Synonyms |
Ttc37 |
| MMRRC Submission |
039665-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.406)
|
| Stock # |
R1628 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
13 |
| Chromosomal Location |
76246853-76338435 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 76259910 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamic Acid to Glycine
at position 70
(E70G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000153521
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000091466]
[ENSMUST00000224386]
|
| AlphaFold |
F8VPK0 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000091466
AA Change: E70G
PolyPhen 2
Score 0.746 (Sensitivity: 0.85; Specificity: 0.92)
|
| SMART Domains |
Protein: ENSMUSP00000089045
Gene: ENSMUSG00000033991
AA Change: E70G
| 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 |
possibly damaging
Transcript: ENSMUST00000224386
AA Change: E70G
PolyPhen 2
Score 0.746 (Sensitivity: 0.85; Specificity: 0.92)
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000224790
|
| Meta Mutation Damage Score |
0.3844 |
| Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.3%
- 10x: 96.0%
- 20x: 91.7%
|
| Validation Efficiency |
99% (75/76) |
| 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: 70 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abcg8 |
C |
T |
17: 84,999,419 (GRCm39) |
Q172* |
probably null |
Het |
| AI467606 |
G |
A |
7: 126,691,755 (GRCm39) |
G110D |
probably benign |
Het |
| Arhgef15 |
A |
C |
11: 68,835,640 (GRCm39) |
L805R |
possibly damaging |
Het |
| B3galnt1 |
G |
A |
3: 69,482,961 (GRCm39) |
T100I |
probably damaging |
Het |
| Bod1l |
T |
A |
5: 41,974,325 (GRCm39) |
M2330L |
probably benign |
Het |
| Calcr |
A |
T |
6: 3,700,251 (GRCm39) |
H280Q |
possibly damaging |
Het |
| Camk1d |
T |
C |
2: 5,315,848 (GRCm39) |
D263G |
probably damaging |
Het |
| Cd48 |
T |
A |
1: 171,532,420 (GRCm39) |
I233N |
probably damaging |
Het |
| Cyp3a25 |
A |
T |
5: 145,938,273 (GRCm39) |
Y68* |
probably null |
Het |
| Dapk3 |
C |
A |
10: 81,027,643 (GRCm39) |
T227K |
possibly damaging |
Het |
| Dnajc22 |
A |
G |
15: 98,998,817 (GRCm39) |
M1V |
probably null |
Het |
| Etv5 |
C |
T |
16: 22,220,421 (GRCm39) |
|
probably null |
Het |
| Gabrr1 |
A |
G |
4: 33,152,432 (GRCm39) |
Y124C |
probably damaging |
Het |
| Gba2 |
C |
T |
4: 43,570,118 (GRCm39) |
R392Q |
probably benign |
Het |
| Gli3 |
C |
G |
13: 15,900,897 (GRCm39) |
A1428G |
probably benign |
Het |
| Gls |
G |
A |
1: 52,271,835 (GRCm39) |
A106V |
probably benign |
Het |
| Gm21370 |
A |
G |
13: 120,488,414 (GRCm39) |
V45A |
possibly damaging |
Het |
| Gpr4 |
A |
G |
7: 18,957,124 (GRCm39) |
T349A |
probably benign |
Het |
| Gpr6 |
C |
T |
10: 40,947,544 (GRCm39) |
V13M |
possibly damaging |
Het |
| Gvin3 |
A |
T |
7: 106,202,476 (GRCm39) |
L256* |
probably null |
Het |
| Hectd3 |
A |
G |
4: 116,854,589 (GRCm39) |
H345R |
probably damaging |
Het |
| Igfl3 |
A |
T |
7: 17,914,232 (GRCm39) |
K135N |
probably benign |
Het |
| Il23r |
A |
G |
6: 67,400,593 (GRCm39) |
L579S |
probably damaging |
Het |
| Itsn2 |
A |
C |
12: 4,679,652 (GRCm39) |
M154L |
probably benign |
Het |
| Junb |
T |
A |
8: 85,705,039 (GRCm39) |
Q7L |
possibly damaging |
Het |
| Kif21b |
T |
A |
1: 136,098,958 (GRCm39) |
H1415Q |
probably benign |
Het |
| Kirrel1 |
C |
T |
3: 86,996,458 (GRCm39) |
M380I |
probably null |
Het |
| Klhdc10 |
T |
G |
6: 30,444,461 (GRCm39) |
F79L |
probably damaging |
Het |
| Klk1b8 |
A |
G |
7: 43,603,565 (GRCm39) |
|
probably null |
Het |
| Lmbrd2 |
T |
A |
15: 9,182,593 (GRCm39) |
N509K |
probably damaging |
Het |
| Mctp2 |
A |
G |
7: 71,861,337 (GRCm39) |
|
probably null |
Het |
| Myo3b |
A |
G |
2: 70,117,306 (GRCm39) |
N913S |
probably benign |
Het |
| N4bp2 |
G |
A |
5: 65,960,915 (GRCm39) |
|
probably null |
Het |
| Nt5c1a |
A |
G |
4: 123,102,284 (GRCm39) |
E70G |
possibly damaging |
Het |
| Or12k5 |
A |
G |
2: 36,894,738 (GRCm39) |
V296A |
probably damaging |
Het |
| Papln |
A |
G |
12: 83,831,180 (GRCm39) |
|
probably benign |
Het |
| Pcnx3 |
G |
T |
19: 5,736,093 (GRCm39) |
S244R |
probably damaging |
Het |
| Pecam1 |
A |
T |
11: 106,573,786 (GRCm39) |
|
probably null |
Het |
| Plppr4 |
A |
T |
3: 117,121,921 (GRCm39) |
L219Q |
probably damaging |
Het |
| Ppp2r5b |
A |
G |
19: 6,280,935 (GRCm39) |
|
probably null |
Het |
| Ralgapb |
A |
G |
2: 158,272,383 (GRCm39) |
R146G |
probably benign |
Het |
| Rapgef6 |
TG |
TGG |
11: 54,437,223 (GRCm39) |
|
probably null |
Het |
| Rfpl4b |
T |
G |
10: 38,697,530 (GRCm39) |
I24L |
probably benign |
Het |
| Serpinb1b |
G |
A |
13: 33,277,637 (GRCm39) |
C290Y |
probably benign |
Het |
| Slc25a17 |
A |
G |
15: 81,244,925 (GRCm39) |
S3P |
possibly damaging |
Het |
| Slc4a11 |
A |
C |
2: 130,529,047 (GRCm39) |
|
probably null |
Het |
| Spata31e4 |
T |
C |
13: 50,856,324 (GRCm39) |
L654P |
probably benign |
Het |
| Sptb |
A |
G |
12: 76,630,622 (GRCm39) |
Y2231H |
probably damaging |
Het |
| Srgap1 |
T |
G |
10: 121,706,244 (GRCm39) |
M221L |
probably benign |
Het |
| Srgap3 |
A |
G |
6: 112,716,331 (GRCm39) |
L599P |
probably damaging |
Het |
| Svep1 |
C |
T |
4: 58,107,561 (GRCm39) |
V1177M |
probably benign |
Het |
| Tarbp1 |
A |
G |
8: 127,157,599 (GRCm39) |
F1303L |
possibly damaging |
Het |
| Tbxa2r |
T |
C |
10: 81,170,341 (GRCm39) |
S276P |
possibly damaging |
Het |
| Try10 |
A |
T |
6: 41,334,390 (GRCm39) |
D194V |
probably damaging |
Het |
| Ttc39c |
T |
C |
18: 12,867,936 (GRCm39) |
|
probably benign |
Het |
| Ttc8 |
G |
A |
12: 98,948,780 (GRCm39) |
V489M |
probably benign |
Het |
| Unc13b |
G |
T |
4: 43,263,371 (GRCm39) |
R1912L |
probably damaging |
Het |
| Unc45b |
T |
A |
11: 82,820,206 (GRCm39) |
|
probably null |
Het |
| Usp17lb |
T |
C |
7: 104,490,048 (GRCm39) |
Y292C |
probably damaging |
Het |
| Usp34 |
A |
G |
11: 23,438,725 (GRCm39) |
D3429G |
probably damaging |
Het |
| Usp42 |
A |
G |
5: 143,703,122 (GRCm39) |
S500P |
probably damaging |
Het |
| Vmn2r14 |
T |
C |
5: 109,367,838 (GRCm39) |
M385V |
probably benign |
Het |
| Vmn2r60 |
G |
A |
7: 41,785,830 (GRCm39) |
W211* |
probably null |
Het |
| Vwf |
A |
T |
6: 125,624,701 (GRCm39) |
|
probably benign |
Het |
| Wdfy4 |
A |
T |
14: 32,681,918 (GRCm39) |
F3018I |
probably damaging |
Het |
| Wwox |
A |
G |
8: 115,174,973 (GRCm39) |
T102A |
probably benign |
Het |
| Zfp142 |
A |
C |
1: 74,611,047 (GRCm39) |
L813R |
possibly damaging |
Het |
| Zfp407 |
G |
A |
18: 84,372,658 (GRCm39) |
T1670M |
probably damaging |
Het |
| Zfp93 |
A |
G |
7: 23,974,282 (GRCm39) |
E89G |
probably benign |
Het |
| Zwint |
C |
T |
10: 72,492,127 (GRCm39) |
Q18* |
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 |
|
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'- AGCTACGAATCTAAGGCTGCTGTTG -3'
(R):5'- ACGGGTGTGGAATTACCCTCCAAG -3'
Sequencing Primer
(F):5'- TTGGTGGCAGATTCATAACAGAC -3'
(R):5'- GTGTGGAATTACCCTCCAAGTAAAC -3'
|
| Posted On |
2014-04-24 |
Incidental Mutation