Incidental Mutation 'IGL01358:Rusc2'
ID |
75616 |
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 # |
IGL01358
|
Quality Score |
|
Status
|
|
Chromosome |
4 |
Chromosomal Location |
43381979-43427088 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
G to A
at 43426116 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Arginine to Glutamine
at position 1407
(R1407Q)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000095710
(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 damaging
Transcript: ENSMUST00000035645
AA Change: R1407Q
PolyPhen 2
Score 0.972 (Sensitivity: 0.77; Specificity: 0.96)
|
SMART Domains |
Protein: ENSMUSP00000038379 Gene: ENSMUSG00000035969 AA Change: R1407Q
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: R1407Q
PolyPhen 2
Score 0.972 (Sensitivity: 0.77; Specificity: 0.96)
|
SMART Domains |
Protein: ENSMUSP00000095710 Gene: ENSMUSG00000035969 AA Change: R1407Q
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 |
possibly damaging
Transcript: ENSMUST00000131668
AA Change: R1407Q
PolyPhen 2
Score 0.928 (Sensitivity: 0.81; Specificity: 0.94)
|
SMART Domains |
Protein: ENSMUSP00000118528 Gene: ENSMUSG00000035969 AA Change: R1407Q
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: ENSMUST00000149556
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000154754
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000150066
|
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: ENSMUST00000149676
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000155080
|
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: 51 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Akt2 |
A |
G |
7: 27,335,579 (GRCm39) |
Y316C |
probably damaging |
Het |
Atp6v0a4 |
T |
G |
6: 38,051,145 (GRCm39) |
D411A |
probably damaging |
Het |
Calr3 |
A |
T |
8: 73,181,057 (GRCm39) |
Y178* |
probably null |
Het |
Ces1e |
A |
G |
8: 93,940,778 (GRCm39) |
L298P |
probably damaging |
Het |
Clk3 |
T |
C |
9: 57,661,875 (GRCm39) |
T391A |
probably damaging |
Het |
Cr2 |
A |
G |
1: 194,842,128 (GRCm39) |
I275T |
probably damaging |
Het |
Cul9 |
G |
T |
17: 46,849,240 (GRCm39) |
P635H |
probably damaging |
Het |
Dhx33 |
G |
A |
11: 70,884,687 (GRCm39) |
Q40* |
probably null |
Het |
Dscam |
A |
T |
16: 96,411,543 (GRCm39) |
S1778T |
possibly damaging |
Het |
Dsg2 |
T |
A |
18: 20,734,850 (GRCm39) |
Y943N |
probably damaging |
Het |
Eml1 |
A |
T |
12: 108,480,727 (GRCm39) |
T398S |
probably benign |
Het |
Epha3 |
G |
A |
16: 63,416,109 (GRCm39) |
|
probably benign |
Het |
Hacl1 |
A |
T |
14: 31,348,374 (GRCm39) |
M200K |
probably benign |
Het |
Ighmbp2 |
T |
A |
19: 3,318,817 (GRCm39) |
S420C |
probably damaging |
Het |
Kcnt1 |
T |
A |
2: 25,806,017 (GRCm39) |
I1200N |
probably damaging |
Het |
Kctd21 |
T |
A |
7: 96,996,581 (GRCm39) |
L18Q |
probably damaging |
Het |
Krt78 |
A |
C |
15: 101,854,698 (GRCm39) |
S1038A |
probably benign |
Het |
Lrp2 |
C |
A |
2: 69,382,814 (GRCm39) |
|
probably benign |
Het |
Lrrc41 |
T |
A |
4: 115,932,784 (GRCm39) |
V60D |
probably benign |
Het |
Mafk |
T |
C |
5: 139,786,248 (GRCm39) |
S149P |
probably damaging |
Het |
Mest |
T |
A |
6: 30,746,330 (GRCm39) |
|
probably benign |
Het |
Nlrp1b |
G |
A |
11: 71,072,682 (GRCm39) |
T387I |
possibly damaging |
Het |
Notch3 |
C |
T |
17: 32,363,721 (GRCm39) |
D1140N |
probably damaging |
Het |
Nxph2 |
A |
G |
2: 23,290,086 (GRCm39) |
N146S |
probably damaging |
Het |
Olfm1 |
T |
C |
2: 28,119,507 (GRCm39) |
C381R |
probably damaging |
Het |
Or56b1b |
T |
A |
7: 108,164,409 (GRCm39) |
R198W |
probably benign |
Het |
Or5p81 |
C |
T |
7: 108,266,869 (GRCm39) |
P82L |
possibly damaging |
Het |
Parp11 |
C |
T |
6: 127,448,526 (GRCm39) |
Q48* |
probably null |
Het |
Pgc |
T |
C |
17: 48,041,591 (GRCm39) |
V175A |
probably benign |
Het |
Pira12 |
A |
G |
7: 3,898,686 (GRCm39) |
V254A |
probably benign |
Het |
Plxna1 |
G |
T |
6: 89,299,732 (GRCm39) |
T1679N |
probably damaging |
Het |
Pnpt1 |
G |
T |
11: 29,088,425 (GRCm39) |
L229F |
possibly damaging |
Het |
Ppp1r12b |
A |
T |
1: 134,819,897 (GRCm39) |
L282Q |
probably damaging |
Het |
Rag2 |
C |
A |
2: 101,460,365 (GRCm39) |
A225D |
possibly damaging |
Het |
Ralgps1 |
T |
C |
2: 33,033,061 (GRCm39) |
D456G |
possibly damaging |
Het |
Rasgrf2 |
T |
A |
13: 92,130,749 (GRCm39) |
T170S |
probably benign |
Het |
Rel |
C |
T |
11: 23,711,155 (GRCm39) |
S4N |
probably benign |
Het |
Rims3 |
C |
T |
4: 120,748,700 (GRCm39) |
S307F |
possibly damaging |
Het |
Rnf123 |
A |
G |
9: 107,946,381 (GRCm39) |
L290P |
probably damaging |
Het |
Rtn4r |
G |
T |
16: 17,969,260 (GRCm39) |
M229I |
possibly damaging |
Het |
Sec23ip |
A |
T |
7: 128,354,521 (GRCm39) |
Q259L |
possibly damaging |
Het |
Slc24a4 |
G |
A |
12: 102,189,894 (GRCm39) |
C204Y |
probably benign |
Het |
Slc27a3 |
T |
C |
3: 90,293,859 (GRCm39) |
T542A |
probably damaging |
Het |
Smarcal1 |
A |
T |
1: 72,655,724 (GRCm39) |
I668F |
possibly damaging |
Het |
Snap91 |
C |
A |
9: 86,688,613 (GRCm39) |
V311F |
probably damaging |
Het |
Sp8 |
T |
A |
12: 118,812,705 (GRCm39) |
S187T |
probably damaging |
Het |
Tcerg1 |
T |
C |
18: 42,657,342 (GRCm39) |
S275P |
unknown |
Het |
Vwce |
T |
A |
19: 10,641,773 (GRCm39) |
V833D |
possibly damaging |
Het |
Zbtb8b |
A |
G |
4: 129,327,052 (GRCm39) |
S38P |
probably damaging |
Het |
Zfp598 |
T |
C |
17: 24,900,398 (GRCm39) |
|
probably benign |
Het |
Zkscan4 |
G |
A |
13: 21,668,475 (GRCm39) |
E309K |
possibly damaging |
Het |
|
Other mutations in Rusc2 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
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 |
|
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 |
2013-10-07 |