Incidental Mutation 'R8127:Rusc2'
| ID |
631799 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Rusc2
|
| Ensembl Gene |
ENSMUSG00000035969 |
| Gene Name |
RUN and SH3 domain containing 2 |
| Synonyms |
|
| MMRRC Submission |
067556-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.158)
|
| Stock # |
R8127 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
4 |
| Chromosomal Location |
43381979-43427088 bp(+) (GRCm38) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 43423747 bp (GRCm38)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Alanine
at position 1023
(V1023A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000038379
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000035645]
[ENSMUST00000052829]
[ENSMUST00000098106]
[ENSMUST00000107928]
[ENSMUST00000107929]
[ENSMUST00000131668]
[ENSMUST00000149221]
[ENSMUST00000149676]
[ENSMUST00000171134]
[ENSMUST00000173682]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000035645
AA Change: V1023A
PolyPhen 2
Score 0.540 (Sensitivity: 0.88; Specificity: 0.90)
|
| SMART Domains |
Protein: ENSMUSP00000038379
Gene: ENSMUSG00000035969
AA Change: V1023A
| 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 |
possibly damaging
Transcript: ENSMUST00000098106
AA Change: V1023A
PolyPhen 2
Score 0.540 (Sensitivity: 0.88; Specificity: 0.90)
|
| SMART Domains |
Protein: ENSMUSP00000095710
Gene: ENSMUSG00000035969
AA Change: V1023A
| 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 |
possibly damaging
Transcript: ENSMUST00000131668
AA Change: V1023A
PolyPhen 2
Score 0.828 (Sensitivity: 0.84; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000118528
Gene: ENSMUSG00000035969
AA Change: V1023A
| 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: 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 |
|
| 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 |
|
| Coding Region Coverage |
- 1x: 99.8%
- 3x: 99.6%
- 10x: 98.9%
- 20x: 97.0%
|
| Validation Efficiency |
100% (45/45) |
| 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: 44 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1700018F24Rik |
T |
C |
5: 145,043,439 |
M66T |
possibly damaging |
Het |
| Acvr1 |
A |
T |
2: 58,477,626 |
N174K |
probably benign |
Het |
| Ago1 |
A |
T |
4: 126,454,421 |
C342S |
possibly damaging |
Het |
| Anapc1 |
A |
G |
2: 128,632,627 |
S1423P |
probably damaging |
Het |
| Antxr2 |
A |
T |
5: 97,980,017 |
C218* |
probably null |
Het |
| Arsa |
A |
G |
15: 89,474,864 |
Y200H |
probably damaging |
Het |
| Atad3a |
C |
T |
4: 155,753,939 |
R207Q |
probably damaging |
Het |
| Carmil3 |
A |
G |
14: 55,498,244 |
D551G |
probably damaging |
Het |
| Cdk9 |
A |
G |
2: 32,707,997 |
I349T |
probably benign |
Het |
| Cmya5 |
A |
T |
13: 93,094,614 |
V1322E |
probably damaging |
Het |
| Col4a3 |
T |
A |
1: 82,649,760 |
I95K |
unknown |
Het |
| Dab2ip |
T |
C |
2: 35,644,126 |
|
probably benign |
Het |
| Dok7 |
A |
G |
5: 35,087,001 |
S530G |
probably benign |
Het |
| Dst |
C |
T |
1: 34,178,229 |
T1250M |
probably damaging |
Het |
| Dzank1 |
A |
C |
2: 144,488,816 |
W439G |
probably damaging |
Het |
| Evx1 |
T |
A |
6: 52,313,917 |
S25T |
possibly damaging |
Het |
| Fut10 |
G |
A |
8: 31,194,971 |
|
probably benign |
Het |
| Gatad1 |
T |
C |
5: 3,643,540 |
R210G |
probably benign |
Het |
| Hyal5 |
C |
A |
6: 24,891,488 |
R434S |
probably benign |
Het |
| Lrrc43 |
C |
T |
5: 123,492,271 |
P66S |
probably damaging |
Het |
| Mib1 |
T |
A |
18: 10,741,031 |
I93N |
probably damaging |
Het |
| Mug2 |
G |
A |
6: 122,075,608 |
E1038K |
probably benign |
Het |
| Nsd2 |
T |
A |
5: 33,885,490 |
C1033S |
probably damaging |
Het |
| Olfr424 |
C |
T |
1: 174,137,589 |
P282S |
probably damaging |
Het |
| Olfr985 |
T |
A |
9: 40,127,064 |
H299L |
probably benign |
Het |
| Otogl |
A |
T |
10: 107,895,752 |
F176Y |
probably damaging |
Het |
| Pih1d3 |
T |
C |
1: 31,223,120 |
F61S |
probably benign |
Het |
| Polr3b |
A |
G |
10: 84,679,789 |
K609E |
probably benign |
Het |
| Prdm15 |
T |
C |
16: 97,837,710 |
N50S |
probably benign |
Het |
| Rlf |
G |
T |
4: 121,147,896 |
Q1406K |
possibly damaging |
Het |
| Scn11a |
C |
T |
9: 119,804,512 |
G385D |
probably damaging |
Het |
| Slc44a1 |
T |
C |
4: 53,528,714 |
S155P |
probably benign |
Het |
| Spam1 |
T |
A |
6: 24,796,971 |
V307D |
possibly damaging |
Het |
| Srgap1 |
A |
C |
10: 121,855,366 |
M321R |
probably null |
Het |
| Stam |
A |
G |
2: 14,117,473 |
I128V |
probably damaging |
Het |
| Sytl2 |
A |
G |
7: 90,375,590 |
D262G |
possibly damaging |
Het |
| Taf2 |
G |
A |
15: 55,059,988 |
R298C |
probably damaging |
Het |
| Tcl1b5 |
A |
T |
12: 105,180,003 |
T112S |
probably benign |
Het |
| Trim33 |
T |
C |
3: 103,331,727 |
S674P |
possibly damaging |
Het |
| Trip12 |
T |
C |
1: 84,738,742 |
N1602S |
probably damaging |
Het |
| Vmn1r44 |
T |
C |
6: 89,893,863 |
I197T |
probably benign |
Het |
| Wdtc1 |
C |
T |
4: 133,302,382 |
|
probably null |
Het |
| Zfp583 |
G |
T |
7: 6,323,822 |
|
probably null |
Het |
| Zfyve16 |
T |
A |
13: 92,505,677 |
I1213F |
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 |
|
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 |
|
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'- GTCCATGAAGAGAGCAGCCAAC -3'
(R):5'- TTGCCTGCGGATACATAGGG -3'
Sequencing Primer
(F):5'- GGAAAGACCCACGAGAACCG -3'
(R):5'- GCAACCGTGAGAAGCCTC -3'
|
| Posted On |
2020-06-30 |
Incidental Mutation