Incidental Mutation 'R5628:Rusc2'
ID |
441914 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Rusc2
|
Ensembl Gene |
ENSMUSG00000035969 |
Gene Name |
RUN and SH3 domain containing 2 |
Synonyms |
|
MMRRC Submission |
043167-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.158)
|
Stock # |
R5628 (G1)
|
Quality Score |
202 |
Status
|
Not validated
|
Chromosome |
4 |
Chromosomal Location |
43381979-43427088 bp(+) (GRCm38) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
C to T
at 43425348 bp (GRCm38)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Threonine to Methionine
at position 1151
(T1151M)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000095710
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000035645]
[ENSMUST00000052829]
[ENSMUST00000098106]
[ENSMUST00000107928]
[ENSMUST00000107929]
[ENSMUST00000131668]
[ENSMUST00000149221]
[ENSMUST00000173682]
[ENSMUST00000171134]
[ENSMUST00000149676]
|
AlphaFold |
no structure available at present |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000035645
AA Change: T1151M
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000038379 Gene: ENSMUSG00000035969 AA Change: T1151M
Domain | Start | End | E-Value | Type |
low complexity region
|
39 |
47 |
N/A |
INTRINSIC |
low complexity region
|
212 |
230 |
N/A |
INTRINSIC |
low complexity region
|
253 |
265 |
N/A |
INTRINSIC |
low complexity region
|
411 |
427 |
N/A |
INTRINSIC |
low complexity region
|
435 |
448 |
N/A |
INTRINSIC |
low complexity region
|
530 |
544 |
N/A |
INTRINSIC |
low complexity region
|
600 |
617 |
N/A |
INTRINSIC |
low complexity region
|
795 |
809 |
N/A |
INTRINSIC |
RUN
|
1109 |
1177 |
3.66e-21 |
SMART |
low complexity region
|
1235 |
1260 |
N/A |
INTRINSIC |
low complexity region
|
1289 |
1324 |
N/A |
INTRINSIC |
low complexity region
|
1330 |
1341 |
N/A |
INTRINSIC |
SH3
|
1457 |
1512 |
7.4e-11 |
SMART |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000052829
|
SMART Domains |
Protein: ENSMUSP00000058980 Gene: ENSMUSG00000042788
Domain | Start | End | E-Value | Type |
Pfam:DUF2475
|
15 |
47 |
2.9e-12 |
PFAM |
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000098106
AA Change: T1151M
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000095710 Gene: ENSMUSG00000035969 AA Change: T1151M
Domain | Start | End | E-Value | Type |
low complexity region
|
39 |
47 |
N/A |
INTRINSIC |
low complexity region
|
212 |
230 |
N/A |
INTRINSIC |
low complexity region
|
253 |
265 |
N/A |
INTRINSIC |
low complexity region
|
411 |
427 |
N/A |
INTRINSIC |
low complexity region
|
435 |
448 |
N/A |
INTRINSIC |
low complexity region
|
530 |
544 |
N/A |
INTRINSIC |
low complexity region
|
600 |
617 |
N/A |
INTRINSIC |
low complexity region
|
795 |
809 |
N/A |
INTRINSIC |
RUN
|
1109 |
1177 |
3.66e-21 |
SMART |
low complexity region
|
1235 |
1260 |
N/A |
INTRINSIC |
low complexity region
|
1289 |
1324 |
N/A |
INTRINSIC |
low complexity region
|
1330 |
1341 |
N/A |
INTRINSIC |
SH3
|
1457 |
1512 |
7.4e-11 |
SMART |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000107928
|
SMART Domains |
Protein: ENSMUSP00000103561 Gene: ENSMUSG00000042788
Domain | Start | End | E-Value | Type |
Pfam:DUF2475
|
15 |
76 |
1.3e-20 |
PFAM |
Pfam:DUF2475
|
212 |
251 |
6.9e-10 |
PFAM |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000107929
|
SMART Domains |
Protein: ENSMUSP00000103562 Gene: ENSMUSG00000042788
Domain | Start | End | E-Value | Type |
Pfam:DUF2475
|
15 |
76 |
1.5e-20 |
PFAM |
Pfam:DUF2475
|
232 |
271 |
7.7e-10 |
PFAM |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000123447
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000125393
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000131668
AA Change: T1151M
PolyPhen 2
Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)
|
SMART Domains |
Protein: ENSMUSP00000118528 Gene: ENSMUSG00000035969 AA Change: T1151M
Domain | Start | End | E-Value | Type |
low complexity region
|
39 |
47 |
N/A |
INTRINSIC |
low complexity region
|
212 |
230 |
N/A |
INTRINSIC |
low complexity region
|
253 |
265 |
N/A |
INTRINSIC |
low complexity region
|
411 |
427 |
N/A |
INTRINSIC |
low complexity region
|
435 |
448 |
N/A |
INTRINSIC |
low complexity region
|
530 |
544 |
N/A |
INTRINSIC |
low complexity region
|
600 |
617 |
N/A |
INTRINSIC |
low complexity region
|
795 |
809 |
N/A |
INTRINSIC |
RUN
|
1109 |
1177 |
3.66e-21 |
SMART |
low complexity region
|
1235 |
1260 |
N/A |
INTRINSIC |
low complexity region
|
1289 |
1324 |
N/A |
INTRINSIC |
low complexity region
|
1330 |
1341 |
N/A |
INTRINSIC |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000146710
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000149221
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000149556
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000150066
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000154754
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000155080
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000173682
|
SMART Domains |
Protein: ENSMUSP00000133715 Gene: ENSMUSG00000035969
Domain | Start | End | E-Value | Type |
low complexity region
|
39 |
47 |
N/A |
INTRINSIC |
low complexity region
|
212 |
230 |
N/A |
INTRINSIC |
low complexity region
|
253 |
265 |
N/A |
INTRINSIC |
low complexity region
|
411 |
427 |
N/A |
INTRINSIC |
low complexity region
|
435 |
448 |
N/A |
INTRINSIC |
low complexity region
|
530 |
544 |
N/A |
INTRINSIC |
low complexity region
|
685 |
703 |
N/A |
INTRINSIC |
low complexity region
|
733 |
740 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000171134
|
SMART Domains |
Protein: ENSMUSP00000127145 Gene: ENSMUSG00000042788
Domain | Start | End | E-Value | Type |
Pfam:DUF2475
|
15 |
76 |
7.2e-21 |
PFAM |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000149676
|
Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.7%
- 10x: 97.3%
- 20x: 95.5%
|
Validation Efficiency |
|
MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a RUN and SH3 domain containing protein that interacts with Rab1b and Rab1-binding protein GM130. Alternatively spliced transcript variants have been observed for this gene. [provided by RefSeq, Jun 2012]
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 44 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Adam25 |
A |
G |
8: 40,755,710 (GRCm38) |
D671G |
probably benign |
Het |
Ap3b1 |
A |
G |
13: 94,477,048 (GRCm38) |
D685G |
unknown |
Het |
Atp6v1h |
G |
A |
1: 5,135,889 (GRCm38) |
W358* |
probably null |
Het |
Atr |
T |
A |
9: 95,874,226 (GRCm38) |
Y830* |
probably null |
Het |
B3galnt2 |
A |
T |
13: 13,995,152 (GRCm38) |
|
probably null |
Het |
Casz1 |
T |
C |
4: 148,946,096 (GRCm38) |
Y1191H |
probably damaging |
Het |
Cdc40 |
T |
G |
10: 40,851,053 (GRCm38) |
E169D |
probably benign |
Het |
Cep55 |
C |
T |
19: 38,069,948 (GRCm38) |
Q330* |
probably null |
Het |
Clcn1 |
T |
C |
6: 42,298,889 (GRCm38) |
V315A |
probably damaging |
Het |
Cmya5 |
A |
G |
13: 93,089,710 (GRCm38) |
F2957L |
probably damaging |
Het |
Dnah2 |
C |
T |
11: 69,458,920 (GRCm38) |
R2399Q |
probably benign |
Het |
Dync1li2 |
T |
C |
8: 104,420,592 (GRCm38) |
N490S |
possibly damaging |
Het |
Ephb3 |
T |
C |
16: 21,218,119 (GRCm38) |
Y111H |
probably damaging |
Het |
Fam186a |
A |
C |
15: 99,941,747 (GRCm38) |
H2205Q |
possibly damaging |
Het |
Fat3 |
T |
C |
9: 15,966,096 (GRCm38) |
Y3407C |
probably damaging |
Het |
Fbxw8 |
A |
G |
5: 118,092,557 (GRCm38) |
V393A |
probably damaging |
Het |
Fnip1 |
A |
T |
11: 54,503,633 (GRCm38) |
D965V |
probably benign |
Het |
Gramd2 |
T |
C |
9: 59,707,723 (GRCm38) |
M3T |
probably benign |
Het |
Kctd15 |
T |
C |
7: 34,640,295 (GRCm38) |
D283G |
probably damaging |
Het |
Kif9 |
C |
T |
9: 110,514,553 (GRCm38) |
R547* |
probably null |
Het |
Map4 |
A |
G |
9: 110,081,847 (GRCm38) |
T245A |
probably benign |
Het |
Mindy4 |
C |
T |
6: 55,260,594 (GRCm38) |
L385F |
probably damaging |
Het |
Myo7b |
A |
G |
18: 31,974,187 (GRCm38) |
C1252R |
probably benign |
Het |
Myt1l |
T |
A |
12: 29,811,621 (GRCm38) |
I134N |
unknown |
Het |
Olfr1022 |
T |
A |
2: 85,868,805 (GRCm38) |
I71N |
probably damaging |
Het |
Osgin2 |
T |
A |
4: 15,998,998 (GRCm38) |
N208I |
probably benign |
Het |
Polr2b |
G |
A |
5: 77,313,216 (GRCm38) |
V29M |
probably damaging |
Het |
Prdm15 |
T |
A |
16: 97,799,623 (GRCm38) |
M812L |
probably damaging |
Het |
Prr36 |
TGCTTTGCTGGTCTGTGGAAGAGCGGCTTTGCTGGTCTGTGGAAGAGCGGCTTTGCTGGTCTGTGGAAGAGCGGCTTTGC |
TGCTTTGCTGGTCTGTGGAAGAGCGGCTTTGCTGGTCTGTGGAAGAGCGGCTTTGC |
8: 4,216,273 (GRCm38) |
|
probably benign |
Het |
Rev3l |
T |
A |
10: 39,822,967 (GRCm38) |
N1153K |
probably damaging |
Het |
Rnf17 |
A |
G |
14: 56,486,952 (GRCm38) |
|
probably null |
Het |
Scrib |
T |
C |
15: 76,049,540 (GRCm38) |
T30A |
possibly damaging |
Het |
Sephs1 |
T |
C |
2: 4,889,207 (GRCm38) |
I73T |
probably benign |
Het |
Sf3b1 |
C |
T |
1: 54,998,175 (GRCm38) |
A861T |
probably benign |
Het |
Shq1 |
A |
G |
6: 100,631,003 (GRCm38) |
W316R |
probably damaging |
Het |
Slc26a5 |
T |
A |
5: 21,816,976 (GRCm38) |
D484V |
probably benign |
Het |
Smg1 |
C |
T |
7: 118,154,701 (GRCm38) |
|
probably benign |
Het |
Stard5 |
T |
C |
7: 83,633,147 (GRCm38) |
I56T |
probably benign |
Het |
Szt2 |
A |
G |
4: 118,373,217 (GRCm38) |
V2653A |
unknown |
Het |
Tmem217 |
A |
T |
17: 29,526,456 (GRCm38) |
I100N |
probably damaging |
Het |
Trpm2 |
C |
T |
10: 77,912,636 (GRCm38) |
R1400Q |
probably benign |
Het |
Vmn1r82 |
T |
G |
7: 12,305,278 (GRCm38) |
N41K |
probably damaging |
Het |
Zfp236 |
T |
C |
18: 82,657,122 (GRCm38) |
D367G |
probably damaging |
Het |
Zfyve1 |
A |
T |
12: 83,574,889 (GRCm38) |
V244E |
probably benign |
Het |
|
Other mutations in Rusc2 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL01358:Rusc2
|
APN |
4 |
43,426,116 (GRCm38) |
missense |
probably damaging |
0.97 |
IGL01474:Rusc2
|
APN |
4 |
43,416,434 (GRCm38) |
missense |
probably damaging |
0.98 |
IGL01541:Rusc2
|
APN |
4 |
43,415,840 (GRCm38) |
missense |
probably benign |
0.08 |
IGL01628:Rusc2
|
APN |
4 |
43,425,729 (GRCm38) |
missense |
probably damaging |
1.00 |
IGL01969:Rusc2
|
APN |
4 |
43,415,738 (GRCm38) |
missense |
probably benign |
0.02 |
IGL02030:Rusc2
|
APN |
4 |
43,416,095 (GRCm38) |
missense |
possibly damaging |
0.86 |
IGL02079:Rusc2
|
APN |
4 |
43,425,668 (GRCm38) |
missense |
probably benign |
|
IGL02115:Rusc2
|
APN |
4 |
43,426,136 (GRCm38) |
splice site |
probably benign |
|
IGL02122:Rusc2
|
APN |
4 |
43,421,685 (GRCm38) |
missense |
possibly damaging |
0.67 |
IGL02350:Rusc2
|
APN |
4 |
43,425,351 (GRCm38) |
missense |
possibly damaging |
0.86 |
IGL02357:Rusc2
|
APN |
4 |
43,425,351 (GRCm38) |
missense |
possibly damaging |
0.86 |
IGL02437:Rusc2
|
APN |
4 |
43,415,545 (GRCm38) |
missense |
probably damaging |
1.00 |
IGL02930:Rusc2
|
APN |
4 |
43,416,376 (GRCm38) |
missense |
probably damaging |
0.99 |
IGL03154:Rusc2
|
APN |
4 |
43,425,806 (GRCm38) |
missense |
probably benign |
0.00 |
P0026:Rusc2
|
UTSW |
4 |
43,415,840 (GRCm38) |
missense |
possibly damaging |
0.93 |
R0036:Rusc2
|
UTSW |
4 |
43,424,009 (GRCm38) |
missense |
probably damaging |
1.00 |
R0068:Rusc2
|
UTSW |
4 |
43,424,100 (GRCm38) |
splice site |
probably benign |
|
R0068:Rusc2
|
UTSW |
4 |
43,424,100 (GRCm38) |
splice site |
probably benign |
|
R0114:Rusc2
|
UTSW |
4 |
43,422,055 (GRCm38) |
missense |
probably damaging |
1.00 |
R0255:Rusc2
|
UTSW |
4 |
43,423,954 (GRCm38) |
missense |
probably damaging |
1.00 |
R0471:Rusc2
|
UTSW |
4 |
43,425,486 (GRCm38) |
missense |
probably damaging |
0.99 |
R1381:Rusc2
|
UTSW |
4 |
43,416,137 (GRCm38) |
missense |
probably damaging |
1.00 |
R1413:Rusc2
|
UTSW |
4 |
43,416,568 (GRCm38) |
missense |
probably benign |
0.00 |
R1416:Rusc2
|
UTSW |
4 |
43,421,617 (GRCm38) |
missense |
possibly damaging |
0.86 |
R1731:Rusc2
|
UTSW |
4 |
43,426,046 (GRCm38) |
missense |
probably benign |
|
R1864:Rusc2
|
UTSW |
4 |
43,421,719 (GRCm38) |
missense |
possibly damaging |
0.49 |
R1897:Rusc2
|
UTSW |
4 |
43,421,749 (GRCm38) |
missense |
probably damaging |
1.00 |
R2010:Rusc2
|
UTSW |
4 |
43,415,212 (GRCm38) |
missense |
probably benign |
0.06 |
R2212:Rusc2
|
UTSW |
4 |
43,415,935 (GRCm38) |
missense |
probably damaging |
1.00 |
R2275:Rusc2
|
UTSW |
4 |
43,416,260 (GRCm38) |
missense |
probably damaging |
1.00 |
R2885:Rusc2
|
UTSW |
4 |
43,415,456 (GRCm38) |
missense |
probably benign |
0.28 |
R2886:Rusc2
|
UTSW |
4 |
43,415,456 (GRCm38) |
missense |
probably benign |
0.28 |
R3412:Rusc2
|
UTSW |
4 |
43,415,935 (GRCm38) |
missense |
probably damaging |
1.00 |
R3413:Rusc2
|
UTSW |
4 |
43,415,935 (GRCm38) |
missense |
probably damaging |
1.00 |
R3414:Rusc2
|
UTSW |
4 |
43,415,935 (GRCm38) |
missense |
probably damaging |
1.00 |
R3852:Rusc2
|
UTSW |
4 |
43,416,424 (GRCm38) |
missense |
probably benign |
0.45 |
R4135:Rusc2
|
UTSW |
4 |
43,425,563 (GRCm38) |
missense |
possibly damaging |
0.49 |
R4272:Rusc2
|
UTSW |
4 |
43,415,533 (GRCm38) |
missense |
probably damaging |
1.00 |
R4574:Rusc2
|
UTSW |
4 |
43,416,080 (GRCm38) |
missense |
probably damaging |
0.99 |
R4888:Rusc2
|
UTSW |
4 |
43,423,942 (GRCm38) |
missense |
probably damaging |
1.00 |
R5010:Rusc2
|
UTSW |
4 |
43,415,926 (GRCm38) |
missense |
probably damaging |
1.00 |
R5071:Rusc2
|
UTSW |
4 |
43,415,240 (GRCm38) |
missense |
probably benign |
0.05 |
R5131:Rusc2
|
UTSW |
4 |
43,414,948 (GRCm38) |
missense |
probably benign |
0.03 |
R5177:Rusc2
|
UTSW |
4 |
43,421,805 (GRCm38) |
splice site |
probably null |
|
R5540:Rusc2
|
UTSW |
4 |
43,423,975 (GRCm38) |
missense |
probably damaging |
1.00 |
R5561:Rusc2
|
UTSW |
4 |
43,415,932 (GRCm38) |
nonsense |
probably null |
|
R5645:Rusc2
|
UTSW |
4 |
43,425,758 (GRCm38) |
missense |
probably benign |
0.06 |
R6129:Rusc2
|
UTSW |
4 |
43,424,271 (GRCm38) |
missense |
probably damaging |
1.00 |
R6362:Rusc2
|
UTSW |
4 |
43,416,416 (GRCm38) |
missense |
probably benign |
0.30 |
R6633:Rusc2
|
UTSW |
4 |
43,414,852 (GRCm38) |
missense |
probably damaging |
0.99 |
R6980:Rusc2
|
UTSW |
4 |
43,422,846 (GRCm38) |
missense |
probably benign |
0.35 |
R7491:Rusc2
|
UTSW |
4 |
43,426,528 (GRCm38) |
missense |
probably damaging |
1.00 |
R7641:Rusc2
|
UTSW |
4 |
43,425,335 (GRCm38) |
missense |
possibly damaging |
0.84 |
R7698:Rusc2
|
UTSW |
4 |
43,414,900 (GRCm38) |
nonsense |
probably null |
|
R7710:Rusc2
|
UTSW |
4 |
43,416,119 (GRCm38) |
missense |
probably benign |
0.07 |
R8052:Rusc2
|
UTSW |
4 |
43,421,851 (GRCm38) |
missense |
probably benign |
|
R8061:Rusc2
|
UTSW |
4 |
43,422,492 (GRCm38) |
missense |
probably damaging |
1.00 |
R8127:Rusc2
|
UTSW |
4 |
43,423,747 (GRCm38) |
missense |
possibly damaging |
0.54 |
R8319:Rusc2
|
UTSW |
4 |
43,425,378 (GRCm38) |
missense |
probably damaging |
1.00 |
R8355:Rusc2
|
UTSW |
4 |
43,422,846 (GRCm38) |
missense |
probably benign |
0.35 |
R8397:Rusc2
|
UTSW |
4 |
43,424,206 (GRCm38) |
missense |
possibly damaging |
0.95 |
R8455:Rusc2
|
UTSW |
4 |
43,422,846 (GRCm38) |
missense |
probably benign |
0.35 |
R8553:Rusc2
|
UTSW |
4 |
43,416,508 (GRCm38) |
missense |
probably benign |
0.05 |
R8725:Rusc2
|
UTSW |
4 |
43,401,351 (GRCm38) |
intron |
probably benign |
|
R8725:Rusc2
|
UTSW |
4 |
43,415,396 (GRCm38) |
missense |
probably damaging |
0.99 |
R8727:Rusc2
|
UTSW |
4 |
43,401,351 (GRCm38) |
intron |
probably benign |
|
R8834:Rusc2
|
UTSW |
4 |
43,416,431 (GRCm38) |
missense |
possibly damaging |
0.94 |
R9295:Rusc2
|
UTSW |
4 |
43,416,382 (GRCm38) |
missense |
probably damaging |
0.98 |
R9483:Rusc2
|
UTSW |
4 |
43,415,897 (GRCm38) |
missense |
probably damaging |
0.97 |
R9666:Rusc2
|
UTSW |
4 |
43,416,262 (GRCm38) |
missense |
probably benign |
0.21 |
R9705:Rusc2
|
UTSW |
4 |
43,424,936 (GRCm38) |
missense |
probably benign |
0.00 |
X0025:Rusc2
|
UTSW |
4 |
43,422,226 (GRCm38) |
missense |
probably benign |
0.00 |
X0066:Rusc2
|
UTSW |
4 |
43,422,204 (GRCm38) |
nonsense |
probably null |
|
|
Predicted Primers |
PCR Primer
(F):5'- AACCCAGAGCTGCTGTTTG -3'
(R):5'- AGTGTTGAGTGCGCAGACAG -3'
Sequencing Primer
(F):5'- AGCAGCCTTTGTGCAAACG -3'
(R):5'- AGACAGCAGCAGGTCCTG -3'
|
Posted On |
2016-11-08 |