Incidental Mutation 'IGL01541:Rusc2'
| ID |
90141 |
| 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: 0.158)
|
| Stock # |
IGL01541
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
4 |
| Chromosomal Location |
43381979-43427088 bp(+) (GRCm38) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 43415840 bp (GRCm38)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Alanine
at position 382
(V382A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000133715
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000035645]
[ENSMUST00000098106]
[ENSMUST00000125399]
[ENSMUST00000131668]
[ENSMUST00000135216]
[ENSMUST00000136360]
[ENSMUST00000139198]
[ENSMUST00000144911]
[ENSMUST00000173682]
[ENSMUST00000149221]
[ENSMUST00000152322]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000035645
AA Change: V382A
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
| SMART Domains |
Protein: ENSMUSP00000038379
Gene: ENSMUSG00000035969
AA Change: V382A
| 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: ENSMUST00000098106
AA Change: V382A
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
| SMART Domains |
Protein: ENSMUSP00000095710
Gene: ENSMUSG00000035969
AA Change: V382A
| 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 |
noncoding transcript
Transcript: ENSMUST00000125393
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000125399
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000131037
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000131668
AA Change: V382A
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000118528
Gene: ENSMUSG00000035969
AA Change: V382A
| 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: ENSMUST00000135216
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000136360
|
| SMART Domains |
Protein: ENSMUSP00000123431
Gene: ENSMUSG00000035969
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
39 |
47 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000139198
|
| SMART Domains |
Protein: ENSMUSP00000121528
Gene: ENSMUSG00000035969
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
39 |
47 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000144911
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000146710
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000173682
AA Change: V382A
PolyPhen 2
Score 0.078 (Sensitivity: 0.93; Specificity: 0.85)
|
| SMART Domains |
Protein: ENSMUSP00000133715
Gene: ENSMUSG00000035969
AA Change: V382A
| 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: ENSMUST00000150066
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000149556
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000149221
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000152322
|
| 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: 39 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abcb5 |
G |
A |
12: 118,911,434 (GRCm38) |
H668Y |
probably benign |
Het |
| Adamts10 |
A |
G |
17: 33,543,231 (GRCm38) |
S505G |
probably benign |
Het |
| Ahnak |
C |
T |
19: 9,007,879 (GRCm38) |
H2176Y |
possibly damaging |
Het |
| Ash1l |
G |
T |
3: 89,066,265 (GRCm38) |
D2544Y |
probably damaging |
Het |
| Ccdc88a |
T |
A |
11: 29,400,283 (GRCm38) |
F88L |
probably benign |
Het |
| Cdc42bpa |
A |
T |
1: 180,151,158 (GRCm38) |
|
probably null |
Het |
| Celsr3 |
T |
C |
9: 108,831,708 (GRCm38) |
V1251A |
probably damaging |
Het |
| CN725425 |
T |
A |
15: 91,245,752 (GRCm38) |
F273I |
possibly damaging |
Het |
| Eif2b1 |
A |
G |
5: 124,576,902 (GRCm38) |
C104R |
probably damaging |
Het |
| Ercc3 |
A |
T |
18: 32,248,319 (GRCm38) |
D396V |
possibly damaging |
Het |
| Fam71a |
A |
T |
1: 191,164,409 (GRCm38) |
Y12* |
probably null |
Het |
| Fga |
A |
T |
3: 83,032,707 (GRCm38) |
D556V |
probably damaging |
Het |
| Frg1 |
C |
T |
8: 41,410,325 (GRCm38) |
|
probably benign |
Het |
| Fto |
T |
C |
8: 91,409,748 (GRCm38) |
Y217H |
probably damaging |
Het |
| Grin3a |
A |
T |
4: 49,792,533 (GRCm38) |
V400E |
probably damaging |
Het |
| Gtse1 |
T |
A |
15: 85,875,654 (GRCm38) |
L682* |
probably null |
Het |
| Igkv6-32 |
A |
G |
6: 70,074,306 (GRCm38) |
I22T |
probably benign |
Het |
| Lama1 |
G |
A |
17: 67,785,070 (GRCm38) |
R1646H |
probably benign |
Het |
| Lamp1 |
T |
C |
8: 13,165,905 (GRCm38) |
C35R |
probably damaging |
Het |
| Lzts3 |
A |
T |
2: 130,636,206 (GRCm38) |
L324Q |
probably damaging |
Het |
| Muc6 |
T |
A |
7: 141,649,804 (GRCm38) |
R453* |
probably null |
Het |
| Naa35 |
T |
A |
13: 59,600,963 (GRCm38) |
H132Q |
probably damaging |
Het |
| Pgm5 |
C |
A |
19: 24,816,413 (GRCm38) |
G296W |
probably damaging |
Het |
| Pkd1 |
T |
A |
17: 24,586,298 (GRCm38) |
C3275S |
probably damaging |
Het |
| Podxl2 |
A |
G |
6: 88,849,349 (GRCm38) |
L325P |
probably benign |
Het |
| Prom2 |
A |
G |
2: 127,529,130 (GRCm38) |
|
probably null |
Het |
| Rab12 |
T |
C |
17: 66,497,409 (GRCm38) |
S185G |
probably damaging |
Het |
| Rnf43 |
T |
G |
11: 87,730,220 (GRCm38) |
M313R |
probably null |
Het |
| Sbno1 |
A |
T |
5: 124,378,555 (GRCm38) |
|
probably benign |
Het |
| Smg6 |
T |
C |
11: 74,925,944 (GRCm38) |
I10T |
probably benign |
Het |
| Smpd1 |
T |
C |
7: 105,555,826 (GRCm38) |
F304S |
possibly damaging |
Het |
| Spta1 |
G |
A |
1: 174,217,159 (GRCm38) |
V1454I |
probably benign |
Het |
| Tdrd7 |
A |
T |
4: 46,018,551 (GRCm38) |
I722F |
possibly damaging |
Het |
| Topors |
T |
C |
4: 40,262,364 (GRCm38) |
T307A |
possibly damaging |
Het |
| Ttn |
C |
T |
2: 76,977,158 (GRCm38) |
R77Q |
probably damaging |
Het |
| Vmn1r210 |
C |
T |
13: 22,827,608 (GRCm38) |
M169I |
probably benign |
Het |
| Zc3h4 |
A |
G |
7: 16,434,332 (GRCm38) |
S789G |
unknown |
Het |
| Zfp629 |
G |
T |
7: 127,612,745 (GRCm38) |
|
probably benign |
Het |
| Zfp977 |
C |
A |
7: 42,580,732 (GRCm38) |
R123I |
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 |
|
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 |
|
|
R5628:Rusc2
|
UTSW |
4 |
43,425,348 (GRCm38) |
missense |
probably damaging |
1.00 |
|
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 |
|
|
| Posted On |
2013-12-03 |
Incidental Mutation