Incidental Mutation 'R8553:Rusc2'
| ID |
659960 |
| Institutional Source |
Beutler Lab
|
| 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 # |
R8553 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
4 |
| Chromosomal Location |
43381979-43427088 bp(+) (GRCm38) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 43416508 bp (GRCm38)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Threonine
at position 605
(S605T)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000095710
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000035645]
[ENSMUST00000098106]
[ENSMUST00000125399]
[ENSMUST00000131668]
[ENSMUST00000135216]
[ENSMUST00000136360]
[ENSMUST00000139198]
[ENSMUST00000144911]
[ENSMUST00000149221]
[ENSMUST00000152322]
[ENSMUST00000173682]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000035645
AA Change: S605T
PolyPhen 2
Score 0.051 (Sensitivity: 0.94; Specificity: 0.83)
|
| SMART Domains |
Protein: ENSMUSP00000038379
Gene: ENSMUSG00000035969
AA Change: S605T
| 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: S605T
PolyPhen 2
Score 0.051 (Sensitivity: 0.94; Specificity: 0.83)
|
| SMART Domains |
Protein: ENSMUSP00000095710
Gene: ENSMUSG00000035969
AA Change: S605T
| 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: ENSMUST00000125399
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000131668
AA Change: S605T
PolyPhen 2
Score 0.005 (Sensitivity: 0.97; Specificity: 0.74)
|
| SMART Domains |
Protein: ENSMUSP00000118528
Gene: ENSMUSG00000035969
AA Change: S605T
| 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 |
probably benign
Transcript: ENSMUST00000149221
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000152322
|
| 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: 100.0%
- 3x: 100.0%
- 10x: 99.8%
- 20x: 99.4%
|
| 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: 53 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1700061G19Rik |
T |
A |
17: 56,881,021 (GRCm38) |
D176E |
probably benign |
Het |
| 2210016F16Rik |
G |
A |
13: 58,384,880 (GRCm38) |
T92M |
probably damaging |
Het |
| 4933427I04Rik |
A |
G |
4: 123,860,534 (GRCm38) |
I80M |
probably benign |
Het |
| Aga |
G |
A |
8: 53,520,332 (GRCm38) |
R255H |
probably damaging |
Het |
| Anapc1 |
G |
A |
2: 128,619,913 (GRCm38) |
P1757L |
possibly damaging |
Het |
| Arfgef3 |
T |
A |
10: 18,603,530 (GRCm38) |
I1446L |
probably damaging |
Het |
| Auts2 |
T |
C |
5: 131,440,143 (GRCm38) |
T779A |
probably benign |
Het |
| Cacna1s |
T |
C |
1: 136,091,802 (GRCm38) |
S778P |
possibly damaging |
Het |
| Cep164 |
A |
T |
9: 45,807,210 (GRCm38) |
|
probably benign |
Het |
| Cmya5 |
T |
C |
13: 93,093,796 (GRCm38) |
T1595A |
probably benign |
Het |
| Csmd3 |
G |
T |
15: 47,621,328 (GRCm38) |
T3214K |
possibly damaging |
Het |
| Dpy30 |
A |
G |
17: 74,315,918 (GRCm38) |
L23P |
probably damaging |
Het |
| Edrf1 |
A |
G |
7: 133,650,318 (GRCm38) |
E391G |
possibly damaging |
Het |
| Egflam |
A |
T |
15: 7,207,748 (GRCm38) |
V985E |
probably damaging |
Het |
| Elmo3 |
T |
C |
8: 105,307,178 (GRCm38) |
V201A |
probably benign |
Het |
| Epb41l5 |
T |
A |
1: 119,549,941 (GRCm38) |
D700V |
possibly damaging |
Het |
| Esr1 |
T |
C |
10: 4,997,847 (GRCm38) |
S467P |
probably damaging |
Het |
| Eya4 |
G |
A |
10: 23,106,258 (GRCm38) |
H601Y |
probably damaging |
Het |
| Fam189b |
A |
C |
3: 89,186,846 (GRCm38) |
D322A |
possibly damaging |
Het |
| Fancm |
A |
C |
12: 65,126,695 (GRCm38) |
N1927T |
possibly damaging |
Het |
| Gcfc2 |
A |
G |
6: 81,935,963 (GRCm38) |
T248A |
probably benign |
Het |
| Gm29106 |
T |
A |
1: 118,200,419 (GRCm38) |
C614S |
probably damaging |
Het |
| Greb1 |
T |
C |
12: 16,723,327 (GRCm38) |
T249A |
probably benign |
Het |
| Hectd4 |
T |
C |
5: 121,353,598 (GRCm38) |
S3700P |
possibly damaging |
Het |
| Hr |
T |
C |
14: 70,567,525 (GRCm38) |
L950P |
probably damaging |
Het |
| Hsd3b3 |
T |
A |
3: 98,743,889 (GRCm38) |
T82S |
possibly damaging |
Het |
| Ifit2 |
C |
A |
19: 34,573,138 (GRCm38) |
A26E |
probably benign |
Het |
| Igsf9b |
A |
G |
9: 27,333,443 (GRCm38) |
D902G |
probably damaging |
Het |
| Itga4 |
G |
A |
2: 79,301,061 (GRCm38) |
R591Q |
probably damaging |
Het |
| Kcnb1 |
A |
T |
2: 167,104,611 (GRCm38) |
S772R |
possibly damaging |
Het |
| Klhl32 |
T |
A |
4: 24,629,343 (GRCm38) |
I213L |
probably benign |
Het |
| Lcn3 |
A |
T |
2: 25,766,335 (GRCm38) |
|
probably null |
Het |
| Lpin2 |
T |
A |
17: 71,231,237 (GRCm38) |
S293T |
probably damaging |
Het |
| Magi2 |
T |
C |
5: 20,651,200 (GRCm38) |
F840S |
probably benign |
Het |
| Myt1 |
G |
A |
2: 181,797,551 (GRCm38) |
E289K |
possibly damaging |
Het |
| Ndst4 |
A |
G |
3: 125,710,107 (GRCm38) |
S8G |
probably damaging |
Het |
| Nlrp4f |
T |
C |
13: 65,195,438 (GRCm38) |
D109G |
possibly damaging |
Het |
| Olfr214 |
G |
T |
6: 116,557,328 (GRCm38) |
R301L |
probably damaging |
Het |
| Pcdhb12 |
C |
T |
18: 37,437,634 (GRCm38) |
A611V |
probably damaging |
Het |
| Pcif1 |
A |
T |
2: 164,886,497 (GRCm38) |
I225F |
probably damaging |
Het |
| Peli3 |
A |
G |
19: 4,934,932 (GRCm38) |
F150L |
probably damaging |
Het |
| Rfx7 |
A |
G |
9: 72,611,804 (GRCm38) |
T263A |
probably damaging |
Het |
| Rpn1 |
A |
G |
6: 88,095,557 (GRCm38) |
Y294C |
probably damaging |
Het |
| Sec23ip |
A |
C |
7: 128,754,053 (GRCm38) |
Q300P |
probably damaging |
Het |
| Sh2d3c |
A |
G |
2: 32,745,913 (GRCm38) |
T98A |
probably damaging |
Het |
| Siah3 |
T |
A |
14: 75,525,627 (GRCm38) |
I106K |
probably benign |
Het |
| Spns2 |
C |
T |
11: 72,457,227 (GRCm38) |
D305N |
probably damaging |
Het |
| Sult1a1 |
G |
T |
7: 126,674,161 (GRCm38) |
Q177K |
probably benign |
Het |
| Tas2r109 |
A |
G |
6: 132,980,208 (GRCm38) |
I253T |
probably benign |
Het |
| Tcof1 |
T |
C |
18: 60,831,571 (GRCm38) |
D661G |
possibly damaging |
Het |
| Tdrd1 |
A |
G |
19: 56,843,152 (GRCm38) |
N325S |
probably damaging |
Het |
| Tfcp2l1 |
C |
A |
1: 118,632,352 (GRCm38) |
A58E |
probably damaging |
Het |
| Wdcp |
T |
C |
12: 4,852,024 (GRCm38) |
|
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 |
|
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 |
|
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 |
|
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'- ACGATTAAGTGAGGGCCCTG -3'
(R):5'- AATCCCTCTGGGTATGGCTG -3'
Sequencing Primer
(F):5'- TGCGTCCCCACCCAGAAG -3'
(R):5'- CTCTGGGTATGGCTGGTGGC -3'
|
| Posted On |
2021-01-18 |
Incidental Mutation