Incidental Mutation 'IGL02437:Rusc2'
ID |
293295 |
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 # |
IGL02437
|
Quality Score |
|
Status
|
|
Chromosome |
4 |
Chromosomal Location |
43381979-43427088 bp(+) (GRCm38) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
G to T
at 43415545 bp (GRCm38)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Aspartic acid to Tyrosine
at position 284
(D284Y)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000133715
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000035645]
[ENSMUST00000098106]
[ENSMUST00000125399]
[ENSMUST00000131668]
[ENSMUST00000135216]
[ENSMUST00000136360]
[ENSMUST00000139198]
[ENSMUST00000144911]
[ENSMUST00000149221]
[ENSMUST00000173682]
[ENSMUST00000152322]
|
AlphaFold |
no structure available at present |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000035645
AA Change: D284Y
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000038379 Gene: ENSMUSG00000035969 AA Change: D284Y
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 damaging
Transcript: ENSMUST00000098106
AA Change: D284Y
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000095710 Gene: ENSMUSG00000035969 AA Change: D284Y
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 damaging
Transcript: ENSMUST00000131668
AA Change: D284Y
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000118528 Gene: ENSMUSG00000035969 AA Change: D284Y
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: ENSMUST00000149221
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000149556
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000173682
AA Change: D284Y
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000133715 Gene: ENSMUSG00000035969 AA Change: D284Y
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 |
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: 58 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
A930011G23Rik |
A |
G |
5: 99,229,377 (GRCm38) |
S404P |
probably damaging |
Het |
A930011G23Rik |
G |
A |
5: 99,229,382 (GRCm38) |
P402L |
probably damaging |
Het |
Abca16 |
T |
G |
7: 120,533,729 (GRCm38) |
C1294G |
probably benign |
Het |
Abca7 |
T |
A |
10: 80,008,389 (GRCm38) |
S1410T |
probably damaging |
Het |
Abhd12 |
T |
C |
2: 150,834,369 (GRCm38) |
D356G |
probably benign |
Het |
BC004004 |
T |
C |
17: 29,298,697 (GRCm38) |
L295P |
probably damaging |
Het |
Bpifc |
T |
C |
10: 85,988,731 (GRCm38) |
S215G |
probably damaging |
Het |
Bptf |
C |
T |
11: 107,074,695 (GRCm38) |
M1109I |
probably benign |
Het |
Brat1 |
C |
T |
5: 140,712,808 (GRCm38) |
A245V |
possibly damaging |
Het |
Cask |
G |
A |
X: 13,537,621 (GRCm38) |
T16I |
probably damaging |
Het |
Cemip2 |
T |
C |
19: 21,811,978 (GRCm38) |
|
probably null |
Het |
Cibar2 |
T |
C |
8: 120,174,786 (GRCm38) |
E60G |
probably damaging |
Het |
Clic6 |
A |
T |
16: 92,530,929 (GRCm38) |
I541F |
probably damaging |
Het |
Clnk |
C |
T |
5: 38,774,566 (GRCm38) |
|
probably null |
Het |
Cntnap1 |
T |
A |
11: 101,186,851 (GRCm38) |
I1113N |
probably damaging |
Het |
Csgalnact1 |
C |
A |
8: 68,401,492 (GRCm38) |
G219V |
probably damaging |
Het |
Cyp26a1 |
T |
C |
19: 37,698,495 (GRCm38) |
S132P |
probably benign |
Het |
Cyp4f13 |
G |
T |
17: 32,930,608 (GRCm38) |
H85N |
probably benign |
Het |
Dcaf15 |
C |
T |
8: 84,101,816 (GRCm38) |
G215D |
probably damaging |
Het |
Dip2a |
T |
C |
10: 76,298,267 (GRCm38) |
T500A |
probably benign |
Het |
Gbe1 |
T |
A |
16: 70,434,658 (GRCm38) |
|
probably benign |
Het |
Gli2 |
T |
A |
1: 118,836,003 (GRCm38) |
I1473F |
probably damaging |
Het |
Gm5129 |
A |
T |
5: 29,735,863 (GRCm38) |
|
probably benign |
Het |
Hdgf |
C |
T |
3: 87,914,485 (GRCm38) |
R168C |
probably damaging |
Het |
Heph |
A |
G |
X: 96,473,027 (GRCm38) |
T342A |
probably benign |
Het |
Kdelr3 |
T |
C |
15: 79,525,787 (GRCm38) |
Y158H |
probably damaging |
Het |
Lamb3 |
C |
T |
1: 193,327,945 (GRCm38) |
R289C |
probably damaging |
Het |
Leng8 |
C |
T |
7: 4,142,093 (GRCm38) |
A164V |
probably damaging |
Het |
Ltn1 |
T |
C |
16: 87,398,001 (GRCm38) |
T1337A |
probably benign |
Het |
Mast3 |
C |
A |
8: 70,780,558 (GRCm38) |
R316L |
possibly damaging |
Het |
Nampt |
A |
G |
12: 32,830,216 (GRCm38) |
Y36C |
probably damaging |
Het |
Ncapd3 |
T |
A |
9: 27,063,968 (GRCm38) |
|
probably benign |
Het |
Nipbl |
T |
C |
15: 8,359,074 (GRCm38) |
D354G |
probably damaging |
Het |
Nsd1 |
A |
T |
13: 55,313,441 (GRCm38) |
R2494W |
probably damaging |
Het |
Nt5c1a |
A |
G |
4: 123,214,241 (GRCm38) |
N239S |
probably benign |
Het |
Ogfr |
A |
G |
2: 180,589,536 (GRCm38) |
E19G |
possibly damaging |
Het |
Or11h4b |
A |
T |
14: 50,681,200 (GRCm38) |
S145T |
probably benign |
Het |
Or4c58 |
A |
G |
2: 89,844,784 (GRCm38) |
L63P |
probably damaging |
Het |
Pcna |
A |
T |
2: 132,251,235 (GRCm38) |
|
probably benign |
Het |
Pdia3 |
T |
A |
2: 121,433,648 (GRCm38) |
V326E |
probably damaging |
Het |
Phf8 |
T |
A |
X: 151,631,360 (GRCm38) |
L1002Q |
possibly damaging |
Het |
Rhobtb2 |
T |
C |
14: 69,795,916 (GRCm38) |
E535G |
probably damaging |
Het |
Samd8 |
A |
G |
14: 21,775,423 (GRCm38) |
Y212C |
probably benign |
Het |
Sash3 |
C |
A |
X: 48,158,795 (GRCm38) |
Q169K |
probably benign |
Het |
Scyl1 |
C |
T |
19: 5,766,196 (GRCm38) |
G324S |
probably damaging |
Het |
Sec62 |
G |
A |
3: 30,818,847 (GRCm38) |
G360R |
unknown |
Het |
Sis |
T |
C |
3: 72,919,614 (GRCm38) |
|
probably null |
Het |
Slc6a1 |
T |
A |
6: 114,308,617 (GRCm38) |
I338N |
probably damaging |
Het |
Snrnp200 |
A |
G |
2: 127,216,110 (GRCm38) |
D264G |
probably damaging |
Het |
Tgm3 |
G |
T |
2: 130,030,041 (GRCm38) |
|
probably null |
Het |
Tnrc6b |
T |
G |
15: 80,880,457 (GRCm38) |
L720R |
probably damaging |
Het |
Tspyl4 |
A |
T |
10: 34,298,232 (GRCm38) |
Q240L |
probably damaging |
Het |
Tube1 |
G |
A |
10: 39,140,850 (GRCm38) |
V80I |
probably damaging |
Het |
Uap1l1 |
C |
T |
2: 25,363,933 (GRCm38) |
V304M |
probably damaging |
Het |
Wtap |
T |
C |
17: 12,967,733 (GRCm38) |
N309S |
probably benign |
Het |
Zfp518a |
G |
A |
19: 40,914,617 (GRCm38) |
G997R |
probably damaging |
Het |
Zfyve26 |
T |
C |
12: 79,268,847 (GRCm38) |
D1285G |
probably benign |
Het |
Zscan20 |
G |
A |
4: 128,588,417 (GRCm38) |
T484I |
probably damaging |
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 |
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 |
2015-04-16 |