Incidental Mutation 'IGL02115:Rusc2'
| ID |
280364 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Rusc2
|
| Ensembl Gene |
ENSMUSG00000035969 |
| Gene Name |
RUN and SH3 domain containing 2 |
| Synonyms |
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.207)
|
| Stock # |
IGL02115
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
4 |
| Chromosomal Location |
43381979-43427088 bp(+) (GRCm39) |
| Type of Mutation |
splice site |
| DNA Base Change (assembly) |
T to C
at 43426136 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000133715
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000035645]
[ENSMUST00000052829]
[ENSMUST00000098106]
[ENSMUST00000107928]
[ENSMUST00000107929]
[ENSMUST00000131668]
[ENSMUST00000173682]
[ENSMUST00000149221]
[ENSMUST00000171134]
[ENSMUST00000149676]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000035645
|
| SMART Domains |
Protein: ENSMUSP00000038379
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
|
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 benign
Transcript: ENSMUST00000098106
|
| SMART Domains |
Protein: ENSMUSP00000095710
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
|
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 benign
Transcript: ENSMUST00000131668
|
| SMART Domains |
Protein: ENSMUSP00000118528
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
|
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 |
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 |
noncoding transcript
Transcript: ENSMUST00000149556
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000154754
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000150066
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000146710
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000149221
|
| 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: ENSMUST00000155080
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000149676
|
| Coding Region Coverage |
|
| 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: 51 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4933440M02Rik |
A |
T |
7: 124,930,781 (GRCm39) |
|
noncoding transcript |
Het |
| Abca7 |
A |
T |
10: 79,833,913 (GRCm39) |
N76Y |
probably damaging |
Het |
| Apob |
A |
G |
12: 8,042,923 (GRCm39) |
K755R |
probably benign |
Het |
| BC034090 |
A |
T |
1: 155,108,397 (GRCm39) |
|
probably benign |
Het |
| Brinp1 |
T |
C |
4: 68,680,635 (GRCm39) |
T632A |
probably benign |
Het |
| Cdcp1 |
C |
A |
9: 123,014,462 (GRCm39) |
C104F |
probably damaging |
Het |
| Cfap206 |
C |
T |
4: 34,722,623 (GRCm39) |
V153I |
possibly damaging |
Het |
| Chd1l |
A |
T |
3: 97,497,220 (GRCm39) |
|
probably null |
Het |
| Ckb |
A |
G |
12: 111,636,415 (GRCm39) |
F271L |
possibly damaging |
Het |
| Col6a3 |
T |
A |
1: 90,735,373 (GRCm39) |
I759L |
probably damaging |
Het |
| Ddr2 |
A |
T |
1: 169,822,278 (GRCm39) |
M390K |
probably benign |
Het |
| Dhx8 |
C |
T |
11: 101,643,214 (GRCm39) |
P762L |
probably damaging |
Het |
| Dnah3 |
A |
T |
7: 119,628,277 (GRCm39) |
V1449E |
probably damaging |
Het |
| Dzip3 |
T |
C |
16: 48,768,848 (GRCm39) |
I629M |
probably benign |
Het |
| Ep300 |
T |
C |
15: 81,533,019 (GRCm39) |
I1692T |
unknown |
Het |
| Ercc6 |
T |
A |
14: 32,298,950 (GRCm39) |
L1446Q |
probably damaging |
Het |
| Gm10092 |
T |
C |
16: 35,957,993 (GRCm39) |
|
noncoding transcript |
Het |
| Gm6900 |
A |
T |
7: 10,390,503 (GRCm39) |
|
noncoding transcript |
Het |
| Gpr149 |
T |
C |
3: 62,502,336 (GRCm39) |
T507A |
probably benign |
Het |
| Hmcn1 |
T |
A |
1: 150,506,479 (GRCm39) |
D3776V |
probably damaging |
Het |
| Irgm2 |
A |
G |
11: 58,110,948 (GRCm39) |
E225G |
probably benign |
Het |
| Kif14 |
T |
C |
1: 136,424,305 (GRCm39) |
|
probably benign |
Het |
| Klhl22 |
T |
C |
16: 17,594,459 (GRCm39) |
V196A |
probably damaging |
Het |
| Lig4 |
T |
C |
8: 10,023,247 (GRCm39) |
S178G |
possibly damaging |
Het |
| Lzts2 |
A |
G |
19: 45,014,809 (GRCm39) |
|
probably benign |
Het |
| Mcoln3 |
C |
T |
3: 145,843,056 (GRCm39) |
S380L |
probably damaging |
Het |
| Med12l |
A |
T |
3: 58,975,740 (GRCm39) |
T223S |
probably benign |
Het |
| Mrpl54 |
A |
G |
10: 81,101,483 (GRCm39) |
|
probably null |
Het |
| Myo1c |
A |
T |
11: 75,552,417 (GRCm39) |
I397F |
probably damaging |
Het |
| Nbas |
A |
T |
12: 13,367,693 (GRCm39) |
|
probably benign |
Het |
| Ncoa2 |
G |
A |
1: 13,223,041 (GRCm39) |
H1195Y |
probably damaging |
Het |
| Nol3 |
A |
G |
8: 106,006,263 (GRCm39) |
M171V |
probably benign |
Het |
| Or2l5 |
A |
T |
16: 19,333,853 (GRCm39) |
C178S |
probably damaging |
Het |
| Or52s1 |
A |
G |
7: 102,861,681 (GRCm39) |
T194A |
probably damaging |
Het |
| Pdpr |
C |
T |
8: 111,830,630 (GRCm39) |
L107F |
probably damaging |
Het |
| Ppfibp2 |
G |
A |
7: 107,338,525 (GRCm39) |
|
probably benign |
Het |
| Sdk2 |
G |
T |
11: 113,725,639 (GRCm39) |
|
probably benign |
Het |
| Sema7a |
T |
C |
9: 57,868,183 (GRCm39) |
C539R |
probably damaging |
Het |
| Senp6 |
T |
C |
9: 80,029,208 (GRCm39) |
C524R |
probably damaging |
Het |
| Setdb2 |
C |
T |
14: 59,639,764 (GRCm39) |
R709Q |
probably damaging |
Het |
| Slc15a1 |
A |
T |
14: 121,718,073 (GRCm39) |
Y269N |
possibly damaging |
Het |
| Synj2 |
T |
A |
17: 6,067,865 (GRCm39) |
Y113N |
probably damaging |
Het |
| Tm6sf1 |
A |
T |
7: 81,525,551 (GRCm39) |
Y172F |
probably damaging |
Het |
| Trpv4 |
T |
C |
5: 114,763,090 (GRCm39) |
D773G |
probably damaging |
Het |
| Ttc39a |
A |
G |
4: 109,283,491 (GRCm39) |
|
probably benign |
Het |
| Tut1 |
C |
T |
19: 8,942,676 (GRCm39) |
R588W |
probably damaging |
Het |
| Unc79 |
A |
T |
12: 102,964,933 (GRCm39) |
Y74F |
probably damaging |
Het |
| Usp53 |
A |
T |
3: 122,741,039 (GRCm39) |
I737K |
probably benign |
Het |
| Vmn2r67 |
A |
T |
7: 84,800,787 (GRCm39) |
M383K |
probably damaging |
Het |
| Zc3h4 |
A |
G |
7: 16,159,708 (GRCm39) |
D426G |
unknown |
Het |
| Zfp622 |
A |
G |
15: 25,987,286 (GRCm39) |
N308S |
probably damaging |
Het |
|
| Other mutations in Rusc2 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01358:Rusc2
|
APN |
4 |
43,426,116 (GRCm39) |
missense |
probably damaging |
0.97 |
|
IGL01474:Rusc2
|
APN |
4 |
43,416,434 (GRCm39) |
missense |
probably damaging |
0.98 |
|
IGL01541:Rusc2
|
APN |
4 |
43,415,840 (GRCm39) |
missense |
probably benign |
0.08 |
|
IGL01628:Rusc2
|
APN |
4 |
43,425,729 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01969:Rusc2
|
APN |
4 |
43,415,738 (GRCm39) |
missense |
probably benign |
0.02 |
|
IGL02030:Rusc2
|
APN |
4 |
43,416,095 (GRCm39) |
missense |
possibly damaging |
0.86 |
|
IGL02079:Rusc2
|
APN |
4 |
43,425,668 (GRCm39) |
missense |
probably benign |
|
|
IGL02122:Rusc2
|
APN |
4 |
43,421,685 (GRCm39) |
missense |
possibly damaging |
0.67 |
|
IGL02350:Rusc2
|
APN |
4 |
43,425,351 (GRCm39) |
missense |
possibly damaging |
0.86 |
|
IGL02357:Rusc2
|
APN |
4 |
43,425,351 (GRCm39) |
missense |
possibly damaging |
0.86 |
|
IGL02437:Rusc2
|
APN |
4 |
43,415,545 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02930:Rusc2
|
APN |
4 |
43,416,376 (GRCm39) |
missense |
probably damaging |
0.99 |
|
IGL03154:Rusc2
|
APN |
4 |
43,425,806 (GRCm39) |
missense |
probably benign |
0.00 |
|
P0026:Rusc2
|
UTSW |
4 |
43,415,840 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
R0036:Rusc2
|
UTSW |
4 |
43,424,009 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0068:Rusc2
|
UTSW |
4 |
43,424,100 (GRCm39) |
splice site |
probably benign |
|
|
R0068:Rusc2
|
UTSW |
4 |
43,424,100 (GRCm39) |
splice site |
probably benign |
|
|
R0114:Rusc2
|
UTSW |
4 |
43,422,055 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0255:Rusc2
|
UTSW |
4 |
43,423,954 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0471:Rusc2
|
UTSW |
4 |
43,425,486 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R1381:Rusc2
|
UTSW |
4 |
43,416,137 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1413:Rusc2
|
UTSW |
4 |
43,416,568 (GRCm39) |
missense |
probably benign |
0.00 |
|
R1416:Rusc2
|
UTSW |
4 |
43,421,617 (GRCm39) |
missense |
possibly damaging |
0.86 |
|
R1731:Rusc2
|
UTSW |
4 |
43,426,046 (GRCm39) |
missense |
probably benign |
|
|
R1864:Rusc2
|
UTSW |
4 |
43,421,719 (GRCm39) |
missense |
possibly damaging |
0.49 |
|
R1897:Rusc2
|
UTSW |
4 |
43,421,749 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2010:Rusc2
|
UTSW |
4 |
43,415,212 (GRCm39) |
missense |
probably benign |
0.06 |
|
R2212:Rusc2
|
UTSW |
4 |
43,415,935 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2275:Rusc2
|
UTSW |
4 |
43,416,260 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2885:Rusc2
|
UTSW |
4 |
43,415,456 (GRCm39) |
missense |
probably benign |
0.28 |
|
R2886:Rusc2
|
UTSW |
4 |
43,415,456 (GRCm39) |
missense |
probably benign |
0.28 |
|
R3412:Rusc2
|
UTSW |
4 |
43,415,935 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3413:Rusc2
|
UTSW |
4 |
43,415,935 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3414:Rusc2
|
UTSW |
4 |
43,415,935 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3852:Rusc2
|
UTSW |
4 |
43,416,424 (GRCm39) |
missense |
probably benign |
0.45 |
|
R4135:Rusc2
|
UTSW |
4 |
43,425,563 (GRCm39) |
missense |
possibly damaging |
0.49 |
|
R4272:Rusc2
|
UTSW |
4 |
43,415,533 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4574:Rusc2
|
UTSW |
4 |
43,416,080 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R4888:Rusc2
|
UTSW |
4 |
43,423,942 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5010:Rusc2
|
UTSW |
4 |
43,415,926 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5071:Rusc2
|
UTSW |
4 |
43,415,240 (GRCm39) |
missense |
probably benign |
0.05 |
|
R5131:Rusc2
|
UTSW |
4 |
43,414,948 (GRCm39) |
missense |
probably benign |
0.03 |
|
R5177:Rusc2
|
UTSW |
4 |
43,421,805 (GRCm39) |
splice site |
probably null |
|
|
R5540:Rusc2
|
UTSW |
4 |
43,423,975 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5561:Rusc2
|
UTSW |
4 |
43,415,932 (GRCm39) |
nonsense |
probably null |
|
|
R5628:Rusc2
|
UTSW |
4 |
43,425,348 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5645:Rusc2
|
UTSW |
4 |
43,425,758 (GRCm39) |
missense |
probably benign |
0.06 |
|
R6129:Rusc2
|
UTSW |
4 |
43,424,271 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6362:Rusc2
|
UTSW |
4 |
43,416,416 (GRCm39) |
missense |
probably benign |
0.30 |
|
R6633:Rusc2
|
UTSW |
4 |
43,414,852 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R6980:Rusc2
|
UTSW |
4 |
43,422,846 (GRCm39) |
missense |
probably benign |
0.35 |
|
R7491:Rusc2
|
UTSW |
4 |
43,426,528 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7641:Rusc2
|
UTSW |
4 |
43,425,335 (GRCm39) |
missense |
possibly damaging |
0.84 |
|
R7698:Rusc2
|
UTSW |
4 |
43,414,900 (GRCm39) |
nonsense |
probably null |
|
|
R7710:Rusc2
|
UTSW |
4 |
43,416,119 (GRCm39) |
missense |
probably benign |
0.07 |
|
R8052:Rusc2
|
UTSW |
4 |
43,421,851 (GRCm39) |
missense |
probably benign |
|
|
R8061:Rusc2
|
UTSW |
4 |
43,422,492 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8127:Rusc2
|
UTSW |
4 |
43,423,747 (GRCm39) |
missense |
possibly damaging |
0.54 |
|
R8319:Rusc2
|
UTSW |
4 |
43,425,378 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8355:Rusc2
|
UTSW |
4 |
43,422,846 (GRCm39) |
missense |
probably benign |
0.35 |
|
R8397:Rusc2
|
UTSW |
4 |
43,424,206 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R8455:Rusc2
|
UTSW |
4 |
43,422,846 (GRCm39) |
missense |
probably benign |
0.35 |
|
R8553:Rusc2
|
UTSW |
4 |
43,416,508 (GRCm39) |
missense |
probably benign |
0.05 |
|
R8725:Rusc2
|
UTSW |
4 |
43,401,351 (GRCm39) |
intron |
probably benign |
|
|
R8725:Rusc2
|
UTSW |
4 |
43,415,396 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R8727:Rusc2
|
UTSW |
4 |
43,401,351 (GRCm39) |
intron |
probably benign |
|
|
R8834:Rusc2
|
UTSW |
4 |
43,416,431 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R9295:Rusc2
|
UTSW |
4 |
43,416,382 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R9483:Rusc2
|
UTSW |
4 |
43,415,897 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R9666:Rusc2
|
UTSW |
4 |
43,416,262 (GRCm39) |
missense |
probably benign |
0.21 |
|
R9705:Rusc2
|
UTSW |
4 |
43,424,936 (GRCm39) |
missense |
probably benign |
0.00 |
|
X0025:Rusc2
|
UTSW |
4 |
43,422,226 (GRCm39) |
missense |
probably benign |
0.00 |
|
X0066:Rusc2
|
UTSW |
4 |
43,422,204 (GRCm39) |
nonsense |
probably null |
|
|
| Posted On |
2015-04-16 |
Incidental Mutation