Incidental Mutation 'R0036:Rusc2'
ID | 201474 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Rusc2
|
Ensembl Gene |
ENSMUSG00000035969 |
Gene Name | RUN and SH3 domain containing 2 |
Synonyms | |
MMRRC Submission |
038330-MU
|
Accession Numbers | |
Is this an essential gene? |
Probably non essential (E-score: 0.182)
|
Stock # | R0036 (G1)
|
Quality Score | 78 |
Status |
Validated
|
Chromosome | 4 |
Chromosomal Location | 43381979-43427088 bp(+) (GRCm38) |
Type of Mutation | missense |
DNA Base Change (assembly) |
C to A
at 43424009 bp
|
Zygosity | Heterozygous |
Amino Acid Change |
Aspartic acid to Glutamic Acid
at position 1054
(D1054E)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000118528
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000035645]
[ENSMUST00000052829]
[ENSMUST00000098106]
[ENSMUST00000107928]
[ENSMUST00000107929]
[ENSMUST00000131668]
[ENSMUST00000149221]
[ENSMUST00000149676]
[ENSMUST00000171134]
[ENSMUST00000173682]
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000035645
AA Change: D1054E
PolyPhen 2
Score 0.989 (Sensitivity: 0.72; Specificity: 0.97)
|
SMART Domains |
Protein: ENSMUSP00000038379 Gene: ENSMUSG00000035969 AA Change: D1054E
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: D1054E
PolyPhen 2
Score 0.989 (Sensitivity: 0.72; Specificity: 0.97)
|
SMART Domains |
Protein: ENSMUSP00000095710 Gene: ENSMUSG00000035969 AA Change: D1054E
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 damaging
Transcript: ENSMUST00000131668
AA Change: D1054E
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000118528 Gene: ENSMUSG00000035969 AA Change: D1054E
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 |
probably benign
Transcript: ENSMUST00000149676
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000150066
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000154754
|
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 |
|
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: ENSMUST00000155080
|
Meta Mutation Damage Score |
0.6467
|
Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.9%
- 10x: 97.7%
- 20x: 96.0%
|
Validation Efficiency |
97% (33/34) |
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: 15 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Ctsq |
C |
T |
13: 61,037,671 |
|
probably null |
Het |
Egln3 |
A |
T |
12: 54,185,592 |
D142E |
possibly damaging |
Het |
Fam120a |
G |
A |
13: 48,889,264 |
|
probably benign |
Het |
Hspg2 |
A |
G |
4: 137,542,849 |
T2373A |
probably damaging |
Het |
Pcyox1l |
G |
T |
18: 61,697,421 |
T460K |
probably benign |
Het |
Phrf1 |
T |
C |
7: 141,261,780 |
M1435T |
probably damaging |
Het |
Rnf157 |
A |
G |
11: 116,396,302 |
Y32H |
probably damaging |
Het |
Rnf224 |
C |
T |
2: 25,236,131 |
R70Q |
probably damaging |
Het |
S100a16 |
T |
A |
3: 90,542,456 |
M82K |
probably benign |
Het |
Serpina3j |
A |
G |
12: 104,317,347 |
T235A |
probably benign |
Het |
Sgo2a |
T |
C |
1: 58,015,628 |
S324P |
probably benign |
Het |
Slf1 |
G |
T |
13: 77,100,951 |
Q373K |
probably benign |
Het |
Son |
T |
A |
16: 91,660,166 |
|
probably benign |
Het |
Tril |
C |
T |
6: 53,818,633 |
A535T |
probably benign |
Het |
Vipr1 |
G |
A |
9: 121,660,983 |
D141N |
probably benign |
Het |
|
Other mutations in Rusc2 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL01358:Rusc2
|
APN |
4 |
43426116 |
missense |
probably damaging |
0.97 |
IGL01474:Rusc2
|
APN |
4 |
43416434 |
missense |
probably damaging |
0.98 |
IGL01541:Rusc2
|
APN |
4 |
43415840 |
missense |
probably benign |
0.08 |
IGL01628:Rusc2
|
APN |
4 |
43425729 |
missense |
probably damaging |
1.00 |
IGL01969:Rusc2
|
APN |
4 |
43415738 |
missense |
probably benign |
0.02 |
IGL02030:Rusc2
|
APN |
4 |
43416095 |
missense |
possibly damaging |
0.86 |
IGL02079:Rusc2
|
APN |
4 |
43425668 |
missense |
probably benign |
|
IGL02115:Rusc2
|
APN |
4 |
43426136 |
splice site |
probably benign |
|
IGL02122:Rusc2
|
APN |
4 |
43421685 |
missense |
possibly damaging |
0.67 |
IGL02350:Rusc2
|
APN |
4 |
43425351 |
missense |
possibly damaging |
0.86 |
IGL02357:Rusc2
|
APN |
4 |
43425351 |
missense |
possibly damaging |
0.86 |
IGL02437:Rusc2
|
APN |
4 |
43415545 |
missense |
probably damaging |
1.00 |
IGL02930:Rusc2
|
APN |
4 |
43416376 |
missense |
probably damaging |
0.99 |
IGL03154:Rusc2
|
APN |
4 |
43425806 |
missense |
probably benign |
0.00 |
P0026:Rusc2
|
UTSW |
4 |
43415840 |
missense |
possibly damaging |
0.93 |
R0068:Rusc2
|
UTSW |
4 |
43424100 |
splice site |
probably benign |
|
R0068:Rusc2
|
UTSW |
4 |
43424100 |
splice site |
probably benign |
|
R0114:Rusc2
|
UTSW |
4 |
43422055 |
missense |
probably damaging |
1.00 |
R0255:Rusc2
|
UTSW |
4 |
43423954 |
missense |
probably damaging |
1.00 |
R0471:Rusc2
|
UTSW |
4 |
43425486 |
missense |
probably damaging |
0.99 |
R1381:Rusc2
|
UTSW |
4 |
43416137 |
missense |
probably damaging |
1.00 |
R1413:Rusc2
|
UTSW |
4 |
43416568 |
missense |
probably benign |
0.00 |
R1416:Rusc2
|
UTSW |
4 |
43421617 |
missense |
possibly damaging |
0.86 |
R1731:Rusc2
|
UTSW |
4 |
43426046 |
missense |
probably benign |
|
R1864:Rusc2
|
UTSW |
4 |
43421719 |
missense |
possibly damaging |
0.49 |
R1897:Rusc2
|
UTSW |
4 |
43421749 |
missense |
probably damaging |
1.00 |
R2010:Rusc2
|
UTSW |
4 |
43415212 |
missense |
probably benign |
0.06 |
R2212:Rusc2
|
UTSW |
4 |
43415935 |
missense |
probably damaging |
1.00 |
R2275:Rusc2
|
UTSW |
4 |
43416260 |
missense |
probably damaging |
1.00 |
R2885:Rusc2
|
UTSW |
4 |
43415456 |
missense |
probably benign |
0.28 |
R2886:Rusc2
|
UTSW |
4 |
43415456 |
missense |
probably benign |
0.28 |
R3412:Rusc2
|
UTSW |
4 |
43415935 |
missense |
probably damaging |
1.00 |
R3413:Rusc2
|
UTSW |
4 |
43415935 |
missense |
probably damaging |
1.00 |
R3414:Rusc2
|
UTSW |
4 |
43415935 |
missense |
probably damaging |
1.00 |
R3852:Rusc2
|
UTSW |
4 |
43416424 |
missense |
probably benign |
0.45 |
R4135:Rusc2
|
UTSW |
4 |
43425563 |
missense |
possibly damaging |
0.49 |
R4272:Rusc2
|
UTSW |
4 |
43415533 |
missense |
probably damaging |
1.00 |
R4574:Rusc2
|
UTSW |
4 |
43416080 |
missense |
probably damaging |
0.99 |
R4888:Rusc2
|
UTSW |
4 |
43423942 |
missense |
probably damaging |
1.00 |
R5010:Rusc2
|
UTSW |
4 |
43415926 |
missense |
probably damaging |
1.00 |
R5071:Rusc2
|
UTSW |
4 |
43415240 |
missense |
probably benign |
0.05 |
R5131:Rusc2
|
UTSW |
4 |
43414948 |
missense |
probably benign |
0.03 |
R5177:Rusc2
|
UTSW |
4 |
43421805 |
splice site |
probably null |
|
R5540:Rusc2
|
UTSW |
4 |
43423975 |
missense |
probably damaging |
1.00 |
R5561:Rusc2
|
UTSW |
4 |
43415932 |
nonsense |
probably null |
|
R5628:Rusc2
|
UTSW |
4 |
43425348 |
missense |
probably damaging |
1.00 |
R5645:Rusc2
|
UTSW |
4 |
43425758 |
missense |
probably benign |
0.06 |
R6129:Rusc2
|
UTSW |
4 |
43424271 |
missense |
probably damaging |
1.00 |
R6362:Rusc2
|
UTSW |
4 |
43416416 |
missense |
probably benign |
0.30 |
R6633:Rusc2
|
UTSW |
4 |
43414852 |
missense |
probably damaging |
0.99 |
R6980:Rusc2
|
UTSW |
4 |
43422846 |
missense |
probably benign |
0.35 |
R7491:Rusc2
|
UTSW |
4 |
43426528 |
missense |
probably damaging |
1.00 |
R7641:Rusc2
|
UTSW |
4 |
43425335 |
missense |
possibly damaging |
0.84 |
R7698:Rusc2
|
UTSW |
4 |
43414900 |
nonsense |
probably null |
|
R7710:Rusc2
|
UTSW |
4 |
43416119 |
missense |
probably benign |
0.07 |
R8052:Rusc2
|
UTSW |
4 |
43421851 |
missense |
probably benign |
|
R8061:Rusc2
|
UTSW |
4 |
43422492 |
missense |
probably damaging |
1.00 |
R8127:Rusc2
|
UTSW |
4 |
43423747 |
missense |
possibly damaging |
0.54 |
R8319:Rusc2
|
UTSW |
4 |
43425378 |
missense |
probably damaging |
1.00 |
R8355:Rusc2
|
UTSW |
4 |
43422846 |
missense |
probably benign |
0.35 |
R8397:Rusc2
|
UTSW |
4 |
43424206 |
missense |
possibly damaging |
0.95 |
R8455:Rusc2
|
UTSW |
4 |
43422846 |
missense |
probably benign |
0.35 |
R8553:Rusc2
|
UTSW |
4 |
43416508 |
missense |
probably benign |
0.05 |
X0025:Rusc2
|
UTSW |
4 |
43422226 |
missense |
probably benign |
0.00 |
X0066:Rusc2
|
UTSW |
4 |
43422204 |
nonsense |
probably null |
|
|
Predicted Primers |
PCR Primer
(F):5'- CACTATCAAGAGCTGAGCTATGCCC -3'
(R):5'- GCTGACTTTGTTGTAGAGGCCATGC -3'
Sequencing Primer
(F):5'- TTCGGGGACAGAAATGGC -3'
(R):5'- TTGTAGAGGCCATGCAAGACC -3'
|
Posted On | 2014-06-13 |