Incidental Mutation 'R1978:Skic3'
| ID |
222058 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Skic3
|
| Ensembl Gene |
ENSMUSG00000033991 |
| Gene Name |
SKI3 subunit of superkiller complex |
| Synonyms |
Ttc37 |
| MMRRC Submission |
039991-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.377)
|
| Stock # |
R1978 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
13 |
| Chromosomal Location |
76246853-76338435 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 76282934 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Alanine
at position 752
(V752A)
|
| 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: V752A
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
| SMART Domains |
Protein: ENSMUSP00000089045
Gene: ENSMUSG00000033991
AA Change: V752A
| 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: V752A
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000224914
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000225220
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000225341
|
| Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.4%
- 10x: 96.7%
- 20x: 93.9%
|
| 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: 74 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 0610040J01Rik |
T |
A |
5: 64,055,880 (GRCm39) |
C205* |
probably null |
Het |
| 4921539E11Rik |
T |
A |
4: 103,127,961 (GRCm39) |
T55S |
possibly damaging |
Het |
| Akap12 |
A |
G |
10: 4,263,855 (GRCm39) |
D88G |
probably benign |
Het |
| Ankrd53 |
C |
A |
6: 83,740,185 (GRCm39) |
F84L |
probably damaging |
Het |
| Apol7b |
A |
C |
15: 77,307,539 (GRCm39) |
F319V |
probably damaging |
Het |
| Bsn |
A |
G |
9: 107,991,748 (GRCm39) |
S1335P |
probably benign |
Het |
| Cep192 |
T |
C |
18: 67,936,228 (GRCm39) |
|
probably null |
Het |
| Cfap57 |
A |
G |
4: 118,450,329 (GRCm39) |
S598P |
probably benign |
Het |
| Commd8 |
T |
C |
5: 72,322,842 (GRCm39) |
H25R |
probably damaging |
Het |
| Crisp4 |
T |
C |
1: 18,198,889 (GRCm39) |
I143V |
probably benign |
Het |
| Cyp4a12b |
A |
T |
4: 115,295,342 (GRCm39) |
T483S |
probably benign |
Het |
| Dbx2 |
C |
T |
15: 95,530,234 (GRCm39) |
M244I |
probably damaging |
Het |
| Dnah6 |
T |
G |
6: 73,098,953 (GRCm39) |
H1982P |
possibly damaging |
Het |
| Fam220a |
C |
A |
5: 143,548,882 (GRCm39) |
P98Q |
probably damaging |
Het |
| Ggnbp1 |
A |
G |
17: 27,248,517 (GRCm39) |
K29E |
possibly damaging |
Het |
| Gm14569 |
A |
C |
X: 35,695,781 (GRCm39) |
M976R |
probably benign |
Het |
| Hck |
G |
T |
2: 152,971,776 (GRCm39) |
W112C |
probably damaging |
Het |
| Heatr5a |
A |
T |
12: 51,986,441 (GRCm39) |
S591T |
possibly damaging |
Het |
| Hhat |
A |
G |
1: 192,399,415 (GRCm39) |
S242P |
probably benign |
Het |
| Hnrnpll |
A |
G |
17: 80,351,947 (GRCm39) |
S333P |
probably benign |
Het |
| Hoxc6 |
T |
C |
15: 102,918,439 (GRCm39) |
|
probably null |
Het |
| Inpp5j |
G |
A |
11: 3,452,150 (GRCm39) |
P367S |
probably damaging |
Het |
| Lamc2 |
A |
G |
1: 153,009,343 (GRCm39) |
|
probably null |
Het |
| Loxhd1 |
T |
A |
18: 77,409,338 (GRCm39) |
I194N |
possibly damaging |
Het |
| Miga1 |
CCAGGGCAG |
CCAG |
3: 152,040,941 (GRCm39) |
|
probably null |
Het |
| Mkln1 |
C |
T |
6: 31,467,465 (GRCm39) |
Q60* |
probably null |
Het |
| Muc21 |
T |
A |
17: 35,933,857 (GRCm39) |
|
probably benign |
Het |
| Mybph |
C |
A |
1: 134,124,734 (GRCm39) |
H185N |
probably benign |
Het |
| Myo1g |
T |
C |
11: 6,470,829 (GRCm39) |
D9G |
possibly damaging |
Het |
| Myo6 |
A |
T |
9: 80,136,207 (GRCm39) |
D110V |
probably damaging |
Het |
| Ncoa7 |
A |
G |
10: 30,567,295 (GRCm39) |
V412A |
probably benign |
Het |
| Neb |
T |
C |
2: 52,177,357 (GRCm39) |
K1328R |
probably damaging |
Het |
| Olfm5 |
T |
A |
7: 103,813,948 (GRCm39) |
Q22L |
unknown |
Het |
| Or10ak7 |
A |
T |
4: 118,791,381 (GRCm39) |
Y221* |
probably null |
Het |
| Or4d11 |
T |
C |
19: 12,013,705 (GRCm39) |
T134A |
probably benign |
Het |
| Or5j1 |
C |
T |
2: 86,879,179 (GRCm39) |
V134M |
possibly damaging |
Het |
| Or6b3 |
C |
A |
1: 92,439,499 (GRCm39) |
G84C |
probably damaging |
Het |
| Or6p1 |
T |
A |
1: 174,258,657 (GRCm39) |
I221N |
probably damaging |
Het |
| Or7a39 |
A |
G |
10: 78,715,114 (GRCm39) |
Y36C |
probably damaging |
Het |
| P3h1 |
A |
T |
4: 119,105,173 (GRCm39) |
Q717L |
probably null |
Het |
| Pclo |
T |
C |
5: 14,763,809 (GRCm39) |
I4094T |
unknown |
Het |
| Pfdn6 |
G |
A |
17: 34,158,051 (GRCm39) |
R73W |
probably benign |
Het |
| Phyhipl |
A |
C |
10: 70,395,591 (GRCm39) |
M205R |
possibly damaging |
Het |
| Pitpnm1 |
C |
T |
19: 4,157,973 (GRCm39) |
|
probably null |
Het |
| Plcg1 |
A |
G |
2: 160,594,498 (GRCm39) |
|
probably null |
Het |
| Pnldc1 |
A |
G |
17: 13,125,392 (GRCm39) |
S81P |
possibly damaging |
Het |
| Pno1 |
T |
C |
11: 17,154,519 (GRCm39) |
I221V |
possibly damaging |
Het |
| Porcn |
A |
G |
X: 8,070,540 (GRCm39) |
V75A |
probably damaging |
Het |
| Prkcg |
T |
A |
7: 3,353,862 (GRCm39) |
C69S |
probably damaging |
Het |
| Rbbp6 |
G |
T |
7: 122,598,711 (GRCm39) |
|
probably benign |
Het |
| Resf1 |
T |
A |
6: 149,227,930 (GRCm39) |
N325K |
probably benign |
Het |
| Rif1 |
GCCACCA |
GCCA |
2: 52,000,336 (GRCm39) |
|
probably benign |
Het |
| Scly |
A |
G |
1: 91,247,891 (GRCm39) |
D413G |
probably damaging |
Het |
| Scn11a |
G |
A |
9: 119,609,861 (GRCm39) |
R996* |
probably null |
Het |
| Slc6a13 |
A |
T |
6: 121,309,332 (GRCm39) |
D281V |
probably damaging |
Het |
| Slfn5 |
T |
C |
11: 82,847,442 (GRCm39) |
V109A |
probably benign |
Het |
| Smyd1 |
A |
T |
6: 71,289,703 (GRCm39) |
|
probably null |
Het |
| Snx29 |
T |
A |
16: 11,185,588 (GRCm39) |
M57K |
probably benign |
Het |
| Stag1 |
T |
G |
9: 100,770,139 (GRCm39) |
I603S |
probably benign |
Het |
| Svep1 |
C |
A |
4: 58,097,292 (GRCm39) |
C1417F |
possibly damaging |
Het |
| Tbc1d23 |
T |
C |
16: 57,009,714 (GRCm39) |
I392V |
probably benign |
Het |
| Tchh |
T |
C |
3: 93,354,106 (GRCm39) |
L1182P |
unknown |
Het |
| Tle3 |
T |
A |
9: 61,301,915 (GRCm39) |
V108E |
probably damaging |
Het |
| Tmem144 |
T |
C |
3: 79,732,707 (GRCm39) |
|
probably null |
Het |
| Tpr |
T |
G |
1: 150,295,658 (GRCm39) |
L894V |
possibly damaging |
Het |
| Trappc9 |
A |
T |
15: 72,871,874 (GRCm39) |
V472E |
probably damaging |
Het |
| Trim38 |
T |
C |
13: 23,975,081 (GRCm39) |
V340A |
probably damaging |
Het |
| Ttn |
A |
T |
2: 76,641,587 (GRCm39) |
L5176Q |
possibly damaging |
Het |
| Vmn1r12 |
T |
A |
6: 57,136,494 (GRCm39) |
I197N |
possibly damaging |
Het |
| Vmn1r26 |
T |
C |
6: 57,986,111 (GRCm39) |
Y26C |
possibly damaging |
Het |
| Vwa3a |
A |
G |
7: 120,358,177 (GRCm39) |
I83V |
probably null |
Het |
| Xirp1 |
C |
T |
9: 119,847,657 (GRCm39) |
E409K |
probably benign |
Het |
| Zc3h14 |
T |
G |
12: 98,730,181 (GRCm39) |
I46R |
probably damaging |
Het |
| Zfp976 |
A |
G |
7: 42,263,265 (GRCm39) |
C191R |
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 |
|
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'- CACAGGCTTTTGGACACAATTTTG -3'
(R):5'- CAGCTAGATGTTGTACTTGACGG -3'
Sequencing Primer
(F):5'- GGCTTTTGGACACAATTTTGAAAGCC -3'
(R):5'- CCAAGATCACACCATGTATTAGATG -3'
|
| Posted On |
2014-08-25 |
Incidental Mutation