Incidental Mutation 'IGL02079:Rusc2'
| ID |
186068 |
| 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: 0.205)
|
| Stock # |
IGL02079
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
4 |
| Chromosomal Location |
43381979-43427088 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 43425668 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Glycine
at position 1258
(S1258G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000118528
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000035645]
[ENSMUST00000052829]
[ENSMUST00000098106]
[ENSMUST00000107928]
[ENSMUST00000107929]
[ENSMUST00000131668]
[ENSMUST00000173682]
[ENSMUST00000149221]
[ENSMUST00000149676]
[ENSMUST00000171134]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000035645
AA Change: S1258G
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000038379
Gene: ENSMUSG00000035969
AA Change: S1258G
| 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
AA Change: S1258G
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000095710
Gene: ENSMUSG00000035969
AA Change: S1258G
| 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
AA Change: S1258G
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000118528
Gene: ENSMUSG00000035969
AA Change: S1258G
| 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 |
noncoding transcript
Transcript: ENSMUST00000150066
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000149556
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000154754
|
| 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: ENSMUST00000149221
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000155080
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000149676
|
| 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 |
|
| 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: 37 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abl1 |
T |
C |
2: 31,579,960 (GRCm39) |
|
probably benign |
Het |
| Ago4 |
A |
T |
4: 126,410,877 (GRCm39) |
M204K |
probably damaging |
Het |
| Alms1 |
T |
C |
6: 85,605,616 (GRCm39) |
V2422A |
probably damaging |
Het |
| Ap5z1 |
T |
C |
5: 142,462,868 (GRCm39) |
|
probably null |
Het |
| Arsa |
T |
C |
15: 89,357,554 (GRCm39) |
T470A |
probably benign |
Het |
| Bri3bp |
T |
C |
5: 125,531,753 (GRCm39) |
V233A |
probably damaging |
Het |
| Cdc45 |
C |
T |
16: 18,617,479 (GRCm39) |
M200I |
probably benign |
Het |
| Csgalnact1 |
C |
A |
8: 68,854,144 (GRCm39) |
G219V |
probably damaging |
Het |
| Elapor1 |
T |
A |
3: 108,388,675 (GRCm39) |
N236I |
possibly damaging |
Het |
| Ephb6 |
T |
A |
6: 41,592,948 (GRCm39) |
D395E |
possibly damaging |
Het |
| Flt1 |
T |
A |
5: 147,505,641 (GRCm39) |
|
probably benign |
Het |
| Fry |
A |
T |
5: 150,323,089 (GRCm39) |
N1080I |
probably damaging |
Het |
| Gdpgp1 |
T |
A |
7: 79,888,768 (GRCm39) |
D266E |
probably benign |
Het |
| Gspt1 |
A |
G |
16: 11,058,693 (GRCm39) |
S123P |
probably benign |
Het |
| Kctd17 |
T |
C |
15: 78,314,356 (GRCm39) |
|
probably benign |
Het |
| Lamb2 |
T |
A |
9: 108,359,312 (GRCm39) |
C313S |
probably damaging |
Het |
| Lcor |
T |
A |
19: 41,544,126 (GRCm39) |
S106R |
probably benign |
Het |
| Lgr5 |
A |
C |
10: 115,288,099 (GRCm39) |
S776R |
probably damaging |
Het |
| Mettl16 |
T |
G |
11: 74,708,450 (GRCm39) |
C510G |
probably damaging |
Het |
| Mlip |
T |
C |
9: 77,146,811 (GRCm39) |
T101A |
possibly damaging |
Het |
| Myh6 |
A |
T |
14: 55,187,998 (GRCm39) |
L1152Q |
probably damaging |
Het |
| Mylk |
G |
A |
16: 34,681,001 (GRCm39) |
R87H |
possibly damaging |
Het |
| Npepl1 |
C |
T |
2: 173,961,183 (GRCm39) |
|
probably benign |
Het |
| Nrxn1 |
A |
T |
17: 90,950,511 (GRCm39) |
M548K |
probably damaging |
Het |
| Or10a48 |
T |
A |
7: 108,425,143 (GRCm39) |
E21V |
probably damaging |
Het |
| Or4c11c |
T |
A |
2: 88,661,991 (GRCm39) |
C177S |
probably damaging |
Het |
| Pate3 |
T |
A |
9: 35,557,449 (GRCm39) |
Q69L |
probably damaging |
Het |
| Piwil1 |
T |
C |
5: 128,819,067 (GRCm39) |
V192A |
possibly damaging |
Het |
| Plcxd2 |
A |
T |
16: 45,792,706 (GRCm39) |
I211N |
probably benign |
Het |
| Plekhg3 |
T |
A |
12: 76,607,203 (GRCm39) |
Y88N |
probably benign |
Het |
| Rabgap1l |
C |
T |
1: 160,566,540 (GRCm39) |
C58Y |
probably benign |
Het |
| Rnf123 |
G |
A |
9: 107,945,501 (GRCm39) |
R390* |
probably null |
Het |
| Scn1a |
T |
C |
2: 66,153,704 (GRCm39) |
R710G |
probably benign |
Het |
| Wwc1 |
A |
G |
11: 35,766,885 (GRCm39) |
S457P |
probably damaging |
Het |
| Xdh |
C |
T |
17: 74,198,272 (GRCm39) |
G1205D |
probably damaging |
Het |
| Zfp518a |
G |
A |
19: 40,903,061 (GRCm39) |
G997R |
probably damaging |
Het |
| Zfp592 |
T |
C |
7: 80,688,978 (GRCm39) |
S1080P |
probably benign |
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 |
|
IGL02115:Rusc2
|
APN |
4 |
43,426,136 (GRCm39) |
splice site |
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 |
2014-05-07 |
Incidental Mutation