Incidental Mutation 'R7261:Skic3'
ID |
564651 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Skic3
|
Ensembl Gene |
ENSMUSG00000033991 |
Gene Name |
SKI3 subunit of superkiller complex |
Synonyms |
Ttc37 |
MMRRC Submission |
045387-MU
|
Accession Numbers |
|
Essential gene? |
Possibly non essential
(E-score: 0.406)
|
Stock # |
R7261 (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 76261698 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Threonine to Alanine
at position 138
(T138A)
|
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: T138A
PolyPhen 2
Score 0.301 (Sensitivity: 0.90; Specificity: 0.89)
|
SMART Domains |
Protein: ENSMUSP00000089045 Gene: ENSMUSG00000033991 AA Change: T138A
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: T138A
PolyPhen 2
Score 0.301 (Sensitivity: 0.90; Specificity: 0.89)
|
Predicted Effect |
|
Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.6%
- 20x: 98.5%
|
Validation Efficiency |
99% (84/85) |
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: 82 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Acaca |
T |
C |
11: 84,259,526 (GRCm39) |
F1954L |
probably damaging |
Het |
Acmsd |
T |
G |
1: 127,687,561 (GRCm39) |
I281R |
probably damaging |
Het |
Adamts2 |
A |
T |
11: 50,677,424 (GRCm39) |
M742L |
possibly damaging |
Het |
Adgrf4 |
G |
A |
17: 42,978,326 (GRCm39) |
T339I |
probably benign |
Het |
Aff1 |
T |
C |
5: 103,976,245 (GRCm39) |
S448P |
probably damaging |
Het |
Agbl2 |
A |
T |
2: 90,619,288 (GRCm39) |
S38C |
possibly damaging |
Het |
Akap7 |
C |
T |
10: 25,147,416 (GRCm39) |
D105N |
possibly damaging |
Het |
Arhgap21 |
A |
G |
2: 20,885,177 (GRCm39) |
F677L |
probably benign |
Het |
Atf6b |
G |
T |
17: 34,869,792 (GRCm39) |
V271F |
probably damaging |
Het |
B3gnt5 |
A |
G |
16: 19,588,123 (GRCm39) |
Y114C |
probably damaging |
Het |
Casp7 |
T |
A |
19: 56,424,765 (GRCm39) |
D161E |
probably benign |
Het |
Catsper4 |
TTCTC |
TTC |
4: 133,954,423 (GRCm39) |
|
probably null |
Het |
Ccdc162 |
T |
C |
10: 41,437,136 (GRCm39) |
T1758A |
probably benign |
Het |
Cfap74 |
C |
A |
4: 155,549,831 (GRCm39) |
P155T |
unknown |
Het |
Champ1 |
A |
G |
8: 13,928,517 (GRCm39) |
D225G |
possibly damaging |
Het |
Chrng |
A |
T |
1: 87,134,962 (GRCm39) |
|
probably null |
Het |
Cnksr1 |
T |
C |
4: 133,963,084 (GRCm39) |
|
probably null |
Het |
Col15a1 |
G |
A |
4: 47,269,088 (GRCm39) |
G582D |
probably benign |
Het |
Cwc25 |
A |
G |
11: 97,648,585 (GRCm39) |
V81A |
possibly damaging |
Het |
Ddhd1 |
A |
G |
14: 45,894,688 (GRCm39) |
Y261H |
probably damaging |
Het |
Defa29 |
A |
G |
8: 21,816,818 (GRCm39) |
|
probably null |
Het |
Diaph3 |
A |
C |
14: 87,202,893 (GRCm39) |
C666G |
probably benign |
Het |
Dlx2 |
A |
G |
2: 71,375,019 (GRCm39) |
Y282H |
probably damaging |
Het |
Dsc3 |
A |
T |
18: 20,113,814 (GRCm39) |
Y369* |
probably null |
Het |
Dtwd1 |
A |
G |
2: 126,000,424 (GRCm39) |
N120S |
probably benign |
Het |
Dysf |
G |
A |
6: 84,169,992 (GRCm39) |
S1761N |
probably damaging |
Het |
Enthd1 |
A |
T |
15: 80,444,416 (GRCm39) |
N46K |
probably damaging |
Het |
Epha7 |
T |
A |
4: 28,813,418 (GRCm39) |
I12N |
probably benign |
Het |
Fam171a2 |
T |
A |
11: 102,328,900 (GRCm39) |
N620Y |
probably damaging |
Het |
Garin4 |
T |
C |
1: 190,896,308 (GRCm39) |
S112G |
unknown |
Het |
Gfpt2 |
A |
T |
11: 49,714,078 (GRCm39) |
E278D |
possibly damaging |
Het |
Gm3285 |
A |
G |
10: 77,698,244 (GRCm39) |
Q131R |
unknown |
Het |
Gpcpd1 |
A |
C |
2: 132,410,619 (GRCm39) |
C23G |
probably damaging |
Het |
Gtpbp4 |
A |
T |
13: 9,037,954 (GRCm39) |
H228Q |
probably benign |
Het |
Hdac7 |
A |
G |
15: 97,704,415 (GRCm39) |
V500A |
probably benign |
Het |
Hykk |
T |
G |
9: 54,828,010 (GRCm39) |
M83R |
possibly damaging |
Het |
Idi1 |
A |
G |
13: 8,936,931 (GRCm39) |
I101V |
probably benign |
Het |
Irs2 |
A |
T |
8: 11,057,018 (GRCm39) |
H471Q |
possibly damaging |
Het |
Itsn1 |
T |
C |
16: 91,702,194 (GRCm39) |
V12A |
probably benign |
Het |
Jak2 |
A |
G |
19: 29,288,385 (GRCm39) |
I1079V |
possibly damaging |
Het |
Kcnt2 |
G |
A |
1: 140,282,255 (GRCm39) |
R80H |
possibly damaging |
Het |
Lamb2 |
T |
C |
9: 108,358,496 (GRCm39) |
Y178H |
probably damaging |
Het |
Lgr5 |
A |
T |
10: 115,423,370 (GRCm39) |
L10Q |
possibly damaging |
Het |
Lnx1 |
G |
T |
5: 74,838,175 (GRCm39) |
S29* |
probably null |
Het |
Lpcat3 |
T |
A |
6: 124,675,050 (GRCm39) |
F57I |
probably benign |
Het |
Manf |
T |
C |
9: 106,769,088 (GRCm39) |
T4A |
probably benign |
Het |
Map2k3 |
G |
A |
11: 60,836,393 (GRCm39) |
|
probably null |
Het |
Myh14 |
G |
A |
7: 44,273,761 (GRCm39) |
Q1329* |
probably null |
Het |
Myocd |
T |
C |
11: 65,078,422 (GRCm39) |
S458G |
probably damaging |
Het |
Ncor2 |
T |
C |
5: 125,187,143 (GRCm39) |
|
probably null |
Het |
Ndufs8 |
A |
T |
19: 3,961,606 (GRCm39) |
N23K |
probably benign |
Het |
Nkx6-1 |
T |
C |
5: 101,812,006 (GRCm39) |
K32R |
unknown |
Het |
Nlrp3 |
T |
G |
11: 59,439,272 (GRCm39) |
V283G |
possibly damaging |
Het |
Nme3 |
A |
G |
17: 25,116,037 (GRCm39) |
|
probably null |
Het |
Or1o3 |
A |
G |
17: 37,574,076 (GRCm39) |
F160L |
probably benign |
Het |
Or8g23 |
C |
T |
9: 38,971,504 (GRCm39) |
V153M |
possibly damaging |
Het |
Parvg |
T |
C |
15: 84,215,297 (GRCm39) |
|
probably null |
Het |
Peg10 |
T |
A |
6: 4,756,591 (GRCm39) |
M389K |
unknown |
Het |
Phf23 |
G |
T |
11: 69,890,091 (GRCm39) |
C340F |
possibly damaging |
Het |
Piwil2 |
A |
G |
14: 70,611,860 (GRCm39) |
Y929H |
probably damaging |
Het |
Prss39 |
A |
G |
1: 34,539,369 (GRCm39) |
D203G |
probably damaging |
Het |
Prss54 |
G |
T |
8: 96,286,367 (GRCm39) |
D235E |
probably benign |
Het |
Prtg |
T |
A |
9: 72,815,117 (GRCm39) |
M1015K |
possibly damaging |
Het |
Rbbp8 |
T |
C |
18: 11,838,799 (GRCm39) |
I160T |
probably damaging |
Het |
Rxylt1 |
A |
T |
10: 121,924,822 (GRCm39) |
D293E |
probably benign |
Het |
Scn10a |
C |
A |
9: 119,438,790 (GRCm39) |
C1692F |
probably damaging |
Het |
Scn11a |
C |
T |
9: 119,648,899 (GRCm39) |
D55N |
probably damaging |
Het |
Secisbp2 |
G |
T |
13: 51,836,498 (GRCm39) |
V768F |
probably damaging |
Het |
Spag16 |
T |
C |
1: 70,338,780 (GRCm39) |
I426T |
possibly damaging |
Het |
Sspo |
G |
A |
6: 48,427,011 (GRCm39) |
V250M |
possibly damaging |
Het |
Strbp |
A |
T |
2: 37,531,149 (GRCm39) |
|
probably null |
Het |
Sv2c |
C |
T |
13: 96,224,809 (GRCm39) |
V167M |
probably damaging |
Het |
Tdpoz1 |
G |
A |
3: 93,577,794 (GRCm39) |
S330L |
not run |
Het |
Tigd2 |
T |
A |
6: 59,188,052 (GRCm39) |
D306E |
probably benign |
Het |
Trrap |
C |
T |
5: 144,782,287 (GRCm39) |
P3278S |
possibly damaging |
Het |
Vdac1 |
A |
T |
11: 52,265,761 (GRCm39) |
K28N |
probably damaging |
Het |
Vmn1r84 |
A |
T |
7: 12,096,069 (GRCm39) |
M208K |
probably damaging |
Het |
Vmn2r77 |
A |
T |
7: 86,460,518 (GRCm39) |
K615* |
probably null |
Het |
Vps11 |
A |
G |
9: 44,265,800 (GRCm39) |
L493P |
probably damaging |
Het |
Zbtb21 |
T |
C |
16: 97,754,179 (GRCm39) |
I35V |
possibly damaging |
Het |
Zbtb26 |
A |
T |
2: 37,326,667 (GRCm39) |
M123K |
possibly damaging |
Het |
Zfp236 |
A |
T |
18: 82,627,470 (GRCm39) |
D1576E |
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 |
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 |
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'- TCCTAAGAAGTGTACTTGTGGAGC -3'
(R):5'- CTAGGTCATAACATAGACCCTGAG -3'
Sequencing Primer
(F):5'- CTTAGAAAGCCGTATTGTTACCTTC -3'
(R):5'- TAGACCCTGAGAATCAAACCAG -3'
|
Posted On |
2019-06-26 |