Incidental Mutation 'R1416:Rusc2'
ID |
159574 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Rusc2
|
Ensembl Gene |
ENSMUSG00000035969 |
Gene Name |
RUN and SH3 domain containing 2 |
Synonyms |
|
MMRRC Submission |
039472-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.158)
|
Stock # |
R1416 (G1)
|
Quality Score |
192 |
Status
|
Validated
|
Chromosome |
4 |
Chromosomal Location |
43381979-43427088 bp(+) (GRCm38) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 43421617 bp (GRCm38)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Glutamic Acid to Glycine
at position 679
(E679G)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000118528
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000035645]
[ENSMUST00000098106]
[ENSMUST00000131668]
[ENSMUST00000149221]
[ENSMUST00000173682]
|
AlphaFold |
no structure available at present |
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000035645
AA Change: E679G
PolyPhen 2
Score 0.491 (Sensitivity: 0.88; Specificity: 0.90)
|
SMART Domains |
Protein: ENSMUSP00000038379 Gene: ENSMUSG00000035969 AA Change: E679G
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 |
possibly damaging
Transcript: ENSMUST00000098106
AA Change: E679G
PolyPhen 2
Score 0.491 (Sensitivity: 0.88; Specificity: 0.90)
|
SMART Domains |
Protein: ENSMUSP00000095710 Gene: ENSMUSG00000035969 AA Change: E679G
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: ENSMUST00000123447
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000125393
|
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000131668
AA Change: E679G
PolyPhen 2
Score 0.855 (Sensitivity: 0.83; Specificity: 0.93)
|
SMART Domains |
Protein: ENSMUSP00000118528 Gene: ENSMUSG00000035969 AA Change: E679G
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 |
probably benign
Transcript: ENSMUST00000149221
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000149556
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000150066
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000154754
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000173682
AA Change: K574E
PolyPhen 2
Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
|
SMART Domains |
Protein: ENSMUSP00000133715 Gene: ENSMUSG00000035969 AA Change: K574E
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 |
|
Meta Mutation Damage Score |
0.0608  |
Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.2%
- 10x: 96.0%
- 20x: 92.1%
|
Validation Efficiency |
94% (63/67) |
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: 63 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
2410089E03Rik |
C |
T |
15: 8,246,938 (GRCm38) |
Q2689* |
probably null |
Het |
4932429P05Rik |
A |
T |
X: 89,753,677 (GRCm38) |
M372L |
probably benign |
Het |
Acad11 |
T |
C |
9: 104,073,623 (GRCm38) |
S49P |
probably damaging |
Het |
Afm |
T |
C |
5: 90,526,379 (GRCm38) |
I250T |
possibly damaging |
Het |
Alox5 |
G |
A |
6: 116,423,145 (GRCm38) |
Q278* |
probably null |
Het |
Anxa7 |
G |
A |
14: 20,462,707 (GRCm38) |
R253C |
probably damaging |
Het |
Arfgef1 |
T |
A |
1: 10,172,939 (GRCm38) |
T1059S |
probably damaging |
Het |
Arpp21 |
T |
C |
9: 112,179,129 (GRCm38) |
E101G |
probably damaging |
Het |
Bcr |
A |
T |
10: 75,061,506 (GRCm38) |
I161F |
possibly damaging |
Het |
Ccdc141 |
T |
C |
2: 77,014,796 (GRCm38) |
E1309G |
probably damaging |
Het |
Ccdc39 |
T |
C |
3: 33,826,480 (GRCm38) |
K446R |
probably damaging |
Het |
Cep41 |
C |
T |
6: 30,657,357 (GRCm38) |
S233N |
probably damaging |
Het |
Col5a1 |
T |
G |
2: 27,922,064 (GRCm38) |
S53A |
unknown |
Het |
Efnb2 |
A |
G |
8: 8,622,329 (GRCm38) |
|
probably null |
Het |
Epb41l5 |
T |
C |
1: 119,549,876 (GRCm38) |
|
probably benign |
Het |
Eri2 |
A |
G |
7: 119,791,174 (GRCm38) |
F77S |
probably damaging |
Het |
Ern1 |
C |
T |
11: 106,421,980 (GRCm38) |
|
probably benign |
Het |
Eya3 |
T |
C |
4: 132,707,129 (GRCm38) |
|
probably benign |
Het |
Fam122b |
T |
C |
X: 53,246,146 (GRCm38) |
*256W |
probably null |
Het |
Gm14685 |
G |
T |
X: 73,127,655 (GRCm38) |
G218C |
probably damaging |
Het |
Icos |
T |
C |
1: 60,994,643 (GRCm38) |
L144P |
probably damaging |
Het |
Ipo8 |
A |
G |
6: 148,789,093 (GRCm38) |
V717A |
probably benign |
Het |
Lrp12 |
T |
C |
15: 39,878,623 (GRCm38) |
E232G |
probably damaging |
Het |
Lrp1b |
A |
G |
2: 40,998,216 (GRCm38) |
I2344T |
probably damaging |
Het |
Mettl5 |
A |
T |
2: 69,871,289 (GRCm38) |
F207I |
possibly damaging |
Het |
Mtor |
G |
T |
4: 148,491,414 (GRCm38) |
E1342* |
probably null |
Het |
Nrap |
A |
G |
19: 56,327,293 (GRCm38) |
Y1360H |
possibly damaging |
Het |
Nsun7 |
T |
C |
5: 66,261,080 (GRCm38) |
V51A |
probably damaging |
Het |
Olfr1065 |
T |
C |
2: 86,445,320 (GRCm38) |
I221V |
probably benign |
Het |
Olfr1160 |
T |
A |
2: 88,006,571 (GRCm38) |
Y60F |
probably damaging |
Het |
Olfr1537 |
G |
C |
9: 39,238,251 (GRCm38) |
P58A |
probably benign |
Het |
Olfr235 |
C |
A |
19: 12,268,894 (GRCm38) |
F221L |
probably benign |
Het |
Olfr467 |
T |
C |
7: 107,815,262 (GRCm38) |
L228P |
probably damaging |
Het |
Otud6b |
A |
C |
4: 14,818,473 (GRCm38) |
L143V |
probably damaging |
Het |
Pp2d1 |
T |
C |
17: 53,515,807 (GRCm38) |
N77S |
probably benign |
Het |
Ptpro |
T |
A |
6: 137,443,594 (GRCm38) |
V1007D |
probably damaging |
Het |
Raly |
G |
T |
2: 154,857,353 (GRCm38) |
G26* |
probably null |
Het |
Rarb |
T |
C |
14: 16,435,177 (GRCm38) |
M290V |
possibly damaging |
Het |
Scap |
T |
C |
9: 110,384,773 (GRCm38) |
V1268A |
probably damaging |
Het |
Setd1b |
C |
T |
5: 123,160,685 (GRCm38) |
|
probably benign |
Het |
Shisa3 |
C |
G |
5: 67,611,434 (GRCm38) |
P226A |
probably benign |
Het |
Smox |
C |
T |
2: 131,522,131 (GRCm38) |
S481F |
probably damaging |
Het |
Stard9 |
T |
C |
2: 120,700,972 (GRCm38) |
V2570A |
probably benign |
Het |
Sucla2 |
C |
T |
14: 73,560,634 (GRCm38) |
|
probably benign |
Het |
Sult4a1 |
C |
T |
15: 84,086,646 (GRCm38) |
R186Q |
probably benign |
Het |
Taf2 |
G |
T |
15: 55,038,410 (GRCm38) |
A796E |
possibly damaging |
Het |
Taf4b |
T |
C |
18: 14,821,427 (GRCm38) |
|
probably benign |
Het |
Thbs4 |
G |
T |
13: 92,761,533 (GRCm38) |
Q593K |
probably benign |
Het |
Tigd3 |
T |
C |
19: 5,891,725 (GRCm38) |
D459G |
probably benign |
Het |
Tmem168 |
A |
T |
6: 13,591,401 (GRCm38) |
L472Q |
probably damaging |
Het |
Tmem169 |
G |
T |
1: 72,300,716 (GRCm38) |
V102F |
probably damaging |
Het |
Tmem241 |
T |
C |
18: 11,993,574 (GRCm38) |
T274A |
probably benign |
Het |
Trip10 |
A |
G |
17: 57,250,800 (GRCm38) |
Y28C |
probably damaging |
Het |
Ubp1 |
T |
C |
9: 113,970,171 (GRCm38) |
V398A |
probably benign |
Het |
Ubr3 |
A |
G |
2: 69,945,071 (GRCm38) |
Y567C |
probably damaging |
Het |
Uckl1 |
A |
T |
2: 181,569,569 (GRCm38) |
M489K |
possibly damaging |
Het |
Ush2a |
C |
T |
1: 188,436,883 (GRCm38) |
P1074S |
probably damaging |
Het |
Vmn1r62 |
T |
C |
7: 5,675,905 (GRCm38) |
V195A |
probably damaging |
Het |
Vmn2r63 |
T |
A |
7: 42,927,915 (GRCm38) |
I400L |
probably benign |
Het |
Vmn2r67 |
T |
A |
7: 85,151,616 (GRCm38) |
I371F |
probably benign |
Het |
Wdr64 |
A |
G |
1: 175,806,002 (GRCm38) |
T940A |
probably benign |
Het |
Zfp105 |
A |
T |
9: 122,930,677 (GRCm38) |
Y471F |
probably damaging |
Het |
Zfp287 |
A |
T |
11: 62,714,340 (GRCm38) |
H580Q |
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 |
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 |
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 |
|
|
Predicted Primers |
PCR Primer
(F):5'- AAGCCCTTTCCACAGCAGGATG -3'
(R):5'- CCTTGAGCAGTAGAGATAACCAGCG -3'
Sequencing Primer
(F):5'- GCCATCTGTGTGAAAGTCTGAAAC -3'
(R):5'- AGATAACCAGCGGGGCG -3'
|
Posted On |
2014-03-14 |