Incidental Mutation 'R8697:Skic3'
| ID |
668800 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Skic3
|
| Ensembl Gene |
ENSMUSG00000033991 |
| Gene Name |
SKI3 subunit of superkiller complex |
| Synonyms |
Ttc37 |
| MMRRC Submission |
068551-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.406)
|
| Stock # |
R8697 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
13 |
| Chromosomal Location |
76246853-76338435 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 76328274 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Glycine
at position 1441
(S1441G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000089045
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000091466]
[ENSMUST00000224386]
|
| AlphaFold |
F8VPK0 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000091466
AA Change: S1441G
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000089045
Gene: ENSMUSG00000033991
AA Change: S1441G
| 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 damaging
Transcript: ENSMUST00000224386
AA Change: S1441G
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000225147
|
| Meta Mutation Damage Score |
0.1626 |
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.8%
- 20x: 99.4%
|
| Validation Efficiency |
98% (58/59) |
| 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: 58 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4930558K02Rik |
C |
T |
1: 161,795,565 (GRCm39) |
A8T |
probably benign |
Het |
| Acacb |
T |
C |
5: 114,351,441 (GRCm39) |
V1130A |
probably damaging |
Het |
| Ackr1 |
A |
G |
1: 173,159,775 (GRCm39) |
F248S |
probably damaging |
Het |
| Alx4 |
G |
A |
2: 93,505,657 (GRCm39) |
R253Q |
probably damaging |
Het |
| Ap3b2 |
T |
C |
7: 81,122,783 (GRCm39) |
I485V |
possibly damaging |
Het |
| Aqp7 |
T |
C |
4: 41,045,305 (GRCm39) |
E25G |
probably damaging |
Het |
| Cacna1g |
T |
C |
11: 94,307,524 (GRCm39) |
N1753D |
probably benign |
Het |
| Cacna2d1 |
T |
A |
5: 16,570,865 (GRCm39) |
N1063K |
possibly damaging |
Het |
| Cad |
T |
C |
5: 31,231,945 (GRCm39) |
V1801A |
probably benign |
Het |
| Ccdc171 |
T |
C |
4: 83,600,577 (GRCm39) |
W868R |
probably damaging |
Het |
| Cecr2 |
T |
C |
6: 120,710,779 (GRCm39) |
Y165H |
probably damaging |
Het |
| Clip4 |
G |
T |
17: 72,163,270 (GRCm39) |
G614V |
possibly damaging |
Het |
| Ctnnal1 |
T |
A |
4: 56,838,986 (GRCm39) |
M236L |
probably damaging |
Het |
| Ctps1 |
T |
C |
4: 120,399,947 (GRCm39) |
D470G |
probably benign |
Het |
| Dmwd |
A |
C |
7: 18,812,113 (GRCm39) |
Q189P |
probably damaging |
Het |
| Dnah17 |
A |
G |
11: 117,976,985 (GRCm39) |
I1869T |
possibly damaging |
Het |
| Eepd1 |
A |
G |
9: 25,497,998 (GRCm39) |
N361S |
probably benign |
Het |
| Ephb6 |
C |
T |
6: 41,591,157 (GRCm39) |
H105Y |
probably damaging |
Het |
| Fkbp15 |
A |
T |
4: 62,239,295 (GRCm39) |
Y603* |
probably null |
Het |
| Flt3 |
T |
C |
5: 147,294,811 (GRCm39) |
Y420C |
possibly damaging |
Het |
| Frem2 |
T |
A |
3: 53,433,249 (GRCm39) |
T2692S |
probably damaging |
Het |
| Gna12 |
T |
A |
5: 140,771,200 (GRCm39) |
R157S |
probably benign |
Het |
| Gsdmc |
A |
T |
15: 63,651,883 (GRCm39) |
S243T |
probably benign |
Het |
| Hectd1 |
A |
G |
12: 51,819,320 (GRCm39) |
|
probably benign |
Het |
| Hoxd11 |
G |
A |
2: 74,513,013 (GRCm39) |
G93R |
unknown |
Het |
| Hydin |
A |
G |
8: 111,259,515 (GRCm39) |
I2496V |
probably benign |
Het |
| Igsf10 |
A |
G |
3: 59,226,308 (GRCm39) |
I2455T |
probably benign |
Het |
| Ilvbl |
A |
T |
10: 78,419,196 (GRCm39) |
R482* |
probably null |
Het |
| Itpr1 |
A |
G |
6: 108,500,327 (GRCm39) |
Y2640C |
probably damaging |
Het |
| Kif20a |
C |
G |
18: 34,761,584 (GRCm39) |
Q326E |
probably benign |
Het |
| Lamp1 |
A |
T |
8: 13,224,448 (GRCm39) |
M371L |
possibly damaging |
Het |
| Lcn6 |
A |
G |
2: 25,567,166 (GRCm39) |
N56D |
probably benign |
Het |
| Map3k10 |
A |
G |
7: 27,362,784 (GRCm39) |
V434A |
probably benign |
Het |
| Mdga1 |
T |
C |
17: 30,065,615 (GRCm39) |
N331S |
probably damaging |
Het |
| Mndal |
C |
A |
1: 173,700,558 (GRCm39) |
E138* |
probably null |
Het |
| Morc3 |
T |
C |
16: 93,667,908 (GRCm39) |
V762A |
probably benign |
Het |
| Ngef |
A |
T |
1: 87,417,459 (GRCm39) |
F279Y |
probably damaging |
Het |
| Or10ac1 |
A |
G |
6: 42,515,629 (GRCm39) |
V109A |
probably damaging |
Het |
| Or5m13b |
A |
T |
2: 85,754,200 (GRCm39) |
K196I |
possibly damaging |
Het |
| Padi4 |
GGAGCTCCTGA |
GGA |
4: 140,485,230 (GRCm39) |
|
probably null |
Het |
| Pcdhb4 |
G |
A |
18: 37,441,832 (GRCm39) |
V381M |
probably benign |
Het |
| Ppm1d |
T |
C |
11: 85,227,986 (GRCm39) |
Y301H |
possibly damaging |
Het |
| Rasgrf1 |
A |
G |
9: 89,877,055 (GRCm39) |
T807A |
probably benign |
Het |
| Repin1 |
G |
T |
6: 48,574,279 (GRCm39) |
E403* |
probably null |
Het |
| Sipa1l2 |
T |
C |
8: 126,208,855 (GRCm39) |
K518E |
probably damaging |
Het |
| Slc52a3 |
A |
G |
2: 151,846,396 (GRCm39) |
D119G |
probably damaging |
Het |
| Srsf4 |
C |
T |
4: 131,628,042 (GRCm39) |
H379Y |
unknown |
Het |
| Ssr1 |
G |
T |
13: 38,167,425 (GRCm39) |
S246* |
probably null |
Het |
| Tars2 |
C |
T |
3: 95,653,374 (GRCm39) |
E509K |
possibly damaging |
Het |
| Tepsin |
G |
T |
11: 119,988,354 (GRCm39) |
Y34* |
probably null |
Het |
| Tmtc2 |
A |
G |
10: 105,205,831 (GRCm39) |
I488T |
probably damaging |
Het |
| Trgc2 |
A |
T |
13: 19,491,514 (GRCm39) |
M69K |
|
Het |
| Ttn |
A |
G |
2: 76,575,120 (GRCm39) |
W25258R |
probably damaging |
Het |
| Utp14b |
T |
C |
1: 78,644,244 (GRCm39) |
M714T |
probably benign |
Het |
| Vwa3b |
T |
A |
1: 37,115,461 (GRCm39) |
H308Q |
probably benign |
Het |
| Washc2 |
A |
G |
6: 116,206,220 (GRCm39) |
D480G |
probably benign |
Het |
| Xcl1 |
C |
T |
1: 164,763,008 (GRCm39) |
V18I |
unknown |
Het |
| Zcchc2 |
C |
A |
1: 105,958,494 (GRCm39) |
N988K |
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 |
|
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 |
|
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'- GTAGGGAATGTAGACTCTGTACTAAGC -3'
(R):5'- GCCACAGAATATCACTTTGTGAAAGG -3'
Sequencing Primer
(F):5'- GACTCTGTACTAAGCTCAGATGTTC -3'
(R):5'- TATGAGACCCCTTAGAACTTGCGG -3'
|
| Posted On |
2021-04-30 |
Incidental Mutation