Incidental Mutation 'R8725:Rusc2'
| ID |
662336 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Rusc2
|
| Ensembl Gene |
ENSMUSG00000035969 |
| Gene Name |
RUN and SH3 domain containing 2 |
| Synonyms |
|
| MMRRC Submission |
068574-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.207)
|
| Stock # |
R8725 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
4 |
| Chromosomal Location |
43381979-43427088 bp(+) (GRCm39) |
| Type of Mutation |
intron |
| DNA Base Change (assembly) |
C to T
at 43401351 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000121298
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000035645]
[ENSMUST00000125399]
[ENSMUST00000135216]
[ENSMUST00000136360]
[ENSMUST00000144911]
[ENSMUST00000152322]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000035645
|
| SMART Domains |
Protein: ENSMUSP00000038379
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
|
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: 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: ENSMUST00000144911
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000152322
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.8%
- 20x: 99.5%
|
| 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: 74 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| A630089N07Rik |
C |
T |
16: 97,867,651 (GRCm39) |
A104T |
probably damaging |
Het |
| Abhd18 |
T |
A |
3: 40,884,627 (GRCm39) |
L222Q |
probably damaging |
Het |
| Adam30 |
C |
T |
3: 98,070,348 (GRCm39) |
T727M |
possibly damaging |
Het |
| Adh6b |
A |
T |
3: 138,058,729 (GRCm39) |
Q137L |
probably damaging |
Het |
| Alpl |
C |
T |
4: 137,475,127 (GRCm39) |
V269I |
probably benign |
Het |
| Ang2 |
C |
T |
14: 51,432,996 (GRCm39) |
G129S |
probably benign |
Het |
| Atp6v0a1 |
A |
T |
11: 100,920,015 (GRCm39) |
H216L |
possibly damaging |
Het |
| BC030500 |
C |
T |
8: 59,366,049 (GRCm39) |
T61I |
unknown |
Het |
| Brpf1 |
T |
G |
6: 113,293,491 (GRCm39) |
L520R |
probably damaging |
Het |
| Btbd10 |
A |
G |
7: 112,927,626 (GRCm39) |
I243T |
possibly damaging |
Het |
| Bub1 |
C |
A |
2: 127,646,139 (GRCm39) |
C947F |
probably damaging |
Het |
| C4b |
T |
C |
17: 34,953,459 (GRCm39) |
E1008G |
probably damaging |
Het |
| Ccdc40 |
A |
G |
11: 119,155,323 (GRCm39) |
T1188A |
probably benign |
Het |
| Cdcp3 |
A |
G |
7: 130,875,485 (GRCm39) |
T1770A |
unknown |
Het |
| Cnn1 |
G |
T |
9: 22,010,557 (GRCm39) |
|
probably benign |
Het |
| Colgalt2 |
T |
C |
1: 152,360,662 (GRCm39) |
M233T |
probably damaging |
Het |
| Cox15 |
A |
T |
19: 43,735,181 (GRCm39) |
C195* |
probably null |
Het |
| Cped1 |
A |
T |
6: 22,059,941 (GRCm39) |
R202S |
possibly damaging |
Het |
| Dact2 |
A |
T |
17: 14,417,146 (GRCm39) |
C351* |
probably null |
Het |
| Dbnl |
A |
G |
11: 5,738,582 (GRCm39) |
N8S |
probably benign |
Het |
| Depdc1a |
T |
A |
3: 159,228,356 (GRCm39) |
N369K |
probably benign |
Het |
| Dnah2 |
A |
T |
11: 69,415,005 (GRCm39) |
L243Q |
probably damaging |
Het |
| Dscaml1 |
T |
A |
9: 45,341,759 (GRCm39) |
Y57N |
probably benign |
Het |
| Eif2b3 |
A |
G |
4: 116,927,944 (GRCm39) |
T388A |
probably benign |
Het |
| Eif4h |
A |
C |
5: 134,654,393 (GRCm39) |
|
probably null |
Het |
| Elf1 |
C |
T |
14: 79,810,667 (GRCm39) |
Q288* |
probably null |
Het |
| Fgl2 |
C |
T |
5: 21,580,677 (GRCm39) |
R340* |
probably null |
Het |
| Fut4 |
T |
C |
9: 14,662,082 (GRCm39) |
D404G |
probably damaging |
Het |
| Glmn |
G |
A |
5: 107,718,152 (GRCm39) |
P255L |
probably benign |
Het |
| Gm14322 |
C |
T |
2: 177,411,481 (GRCm39) |
T97I |
probably benign |
Het |
| Gm44511 |
C |
A |
6: 128,797,997 (GRCm39) |
C32F |
probably damaging |
Het |
| Gm5478 |
A |
G |
15: 101,553,871 (GRCm39) |
F247S |
probably damaging |
Het |
| Golgb1 |
T |
A |
16: 36,739,563 (GRCm39) |
M2675K |
probably damaging |
Het |
| Hectd1 |
T |
C |
12: 51,849,000 (GRCm39) |
D368G |
possibly damaging |
Het |
| Hnrnpul2 |
A |
G |
19: 8,798,064 (GRCm39) |
N140S |
probably benign |
Het |
| Htr4 |
A |
T |
18: 62,561,209 (GRCm39) |
I157L |
probably damaging |
Het |
| Kcnma1 |
T |
G |
14: 23,436,332 (GRCm39) |
M790L |
probably benign |
Het |
| Kcnv1 |
G |
A |
15: 44,977,999 (GRCm39) |
S13L |
unknown |
Het |
| Kctd20 |
C |
T |
17: 29,184,025 (GRCm39) |
R312* |
probably null |
Het |
| Kdm3b |
T |
A |
18: 34,960,435 (GRCm39) |
I1340N |
probably damaging |
Het |
| Kdm6b |
A |
G |
11: 69,292,919 (GRCm39) |
F1286L |
unknown |
Het |
| Knl1 |
T |
A |
2: 118,899,524 (GRCm39) |
F408L |
probably benign |
Het |
| Lypd5 |
G |
T |
7: 24,053,101 (GRCm39) |
G253W |
probably damaging |
Het |
| Mea1 |
A |
G |
17: 46,992,614 (GRCm39) |
T21A |
probably benign |
Het |
| Metrnl |
A |
G |
11: 121,606,842 (GRCm39) |
E299G |
possibly damaging |
Het |
| Muc5ac |
C |
T |
7: 141,363,481 (GRCm39) |
|
probably benign |
Het |
| Nbn |
G |
A |
4: 15,963,911 (GRCm39) |
S104N |
probably damaging |
Het |
| Nxpe2 |
A |
T |
9: 48,238,073 (GRCm39) |
F61I |
probably benign |
Het |
| Or6c1b |
T |
C |
10: 129,273,334 (GRCm39) |
Y218H |
probably benign |
Het |
| Or6c70 |
T |
A |
10: 129,710,092 (GRCm39) |
D178V |
probably damaging |
Het |
| Pgr |
C |
A |
9: 8,901,544 (GRCm39) |
P359Q |
probably damaging |
Het |
| Pi4k2b |
G |
A |
5: 52,908,031 (GRCm39) |
V157I |
probably benign |
Het |
| Plekhm1 |
A |
C |
11: 103,258,444 (GRCm39) |
F1031L |
probably damaging |
Het |
| Pltp |
A |
G |
2: 164,696,301 (GRCm39) |
S124P |
probably damaging |
Het |
| Polr3gl |
T |
A |
3: 96,487,154 (GRCm39) |
E177V |
probably benign |
Het |
| Pstk |
G |
T |
7: 130,973,024 (GRCm39) |
R41L |
possibly damaging |
Het |
| Rasgrp1 |
T |
C |
2: 117,119,158 (GRCm39) |
E493G |
probably benign |
Het |
| Rtn3 |
A |
G |
19: 7,434,726 (GRCm39) |
L422P |
probably benign |
Het |
| Sbno2 |
A |
G |
10: 79,911,090 (GRCm39) |
F6S |
probably benign |
Het |
| Sh2d4a |
A |
G |
8: 68,798,695 (GRCm39) |
Y348C |
probably damaging |
Het |
| Sh3rf3 |
A |
G |
10: 58,939,992 (GRCm39) |
|
probably null |
Het |
| Sipa1l2 |
T |
C |
8: 126,177,125 (GRCm39) |
E1163G |
probably benign |
Het |
| Strip1 |
G |
C |
3: 107,521,964 (GRCm39) |
A738G |
probably damaging |
Het |
| Tdrkh |
C |
T |
3: 94,333,299 (GRCm39) |
R255C |
probably benign |
Het |
| Tln1 |
A |
T |
4: 43,555,911 (GRCm39) |
M101K |
possibly damaging |
Het |
| Trav6-2 |
A |
C |
14: 52,905,028 (GRCm39) |
|
probably benign |
Het |
| Tspan11 |
A |
T |
6: 127,900,674 (GRCm39) |
I82F |
possibly damaging |
Het |
| Ttn |
T |
C |
2: 76,779,320 (GRCm39) |
K1233E |
unknown |
Het |
| Usp29 |
A |
T |
7: 6,965,917 (GRCm39) |
S587C |
probably damaging |
Het |
| Vmn1r235 |
A |
T |
17: 21,482,056 (GRCm39) |
Q127L |
probably damaging |
Het |
| Vmn1r65 |
C |
A |
7: 6,011,503 (GRCm39) |
A244S |
probably damaging |
Het |
| Vmn2r18 |
A |
G |
5: 151,508,462 (GRCm39) |
S221P |
probably damaging |
Het |
| Zfp229 |
T |
C |
17: 21,964,828 (GRCm39) |
S353P |
probably damaging |
Het |
| Zpld2 |
T |
C |
4: 133,930,150 (GRCm39) |
K52E |
probably benign |
Het |
|
| Other mutations in Rusc2 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01358:Rusc2
|
APN |
4 |
43,426,116 (GRCm39) |
missense |
probably damaging |
0.97 |
|
IGL01474:Rusc2
|
APN |
4 |
43,416,434 (GRCm39) |
missense |
probably damaging |
0.98 |
|
IGL01541:Rusc2
|
APN |
4 |
43,415,840 (GRCm39) |
missense |
probably benign |
0.08 |
|
IGL01628:Rusc2
|
APN |
4 |
43,425,729 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01969:Rusc2
|
APN |
4 |
43,415,738 (GRCm39) |
missense |
probably benign |
0.02 |
|
IGL02030:Rusc2
|
APN |
4 |
43,416,095 (GRCm39) |
missense |
possibly damaging |
0.86 |
|
IGL02079:Rusc2
|
APN |
4 |
43,425,668 (GRCm39) |
missense |
probably benign |
|
|
IGL02115:Rusc2
|
APN |
4 |
43,426,136 (GRCm39) |
splice site |
probably benign |
|
|
IGL02122:Rusc2
|
APN |
4 |
43,421,685 (GRCm39) |
missense |
possibly damaging |
0.67 |
|
IGL02350:Rusc2
|
APN |
4 |
43,425,351 (GRCm39) |
missense |
possibly damaging |
0.86 |
|
IGL02357:Rusc2
|
APN |
4 |
43,425,351 (GRCm39) |
missense |
possibly damaging |
0.86 |
|
IGL02437:Rusc2
|
APN |
4 |
43,415,545 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02930:Rusc2
|
APN |
4 |
43,416,376 (GRCm39) |
missense |
probably damaging |
0.99 |
|
IGL03154:Rusc2
|
APN |
4 |
43,425,806 (GRCm39) |
missense |
probably benign |
0.00 |
|
P0026:Rusc2
|
UTSW |
4 |
43,415,840 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
R0036:Rusc2
|
UTSW |
4 |
43,424,009 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0068:Rusc2
|
UTSW |
4 |
43,424,100 (GRCm39) |
splice site |
probably benign |
|
|
R0068:Rusc2
|
UTSW |
4 |
43,424,100 (GRCm39) |
splice site |
probably benign |
|
|
R0114:Rusc2
|
UTSW |
4 |
43,422,055 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0255:Rusc2
|
UTSW |
4 |
43,423,954 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0471:Rusc2
|
UTSW |
4 |
43,425,486 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R1381:Rusc2
|
UTSW |
4 |
43,416,137 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1413:Rusc2
|
UTSW |
4 |
43,416,568 (GRCm39) |
missense |
probably benign |
0.00 |
|
R1416:Rusc2
|
UTSW |
4 |
43,421,617 (GRCm39) |
missense |
possibly damaging |
0.86 |
|
R1731:Rusc2
|
UTSW |
4 |
43,426,046 (GRCm39) |
missense |
probably benign |
|
|
R1864:Rusc2
|
UTSW |
4 |
43,421,719 (GRCm39) |
missense |
possibly damaging |
0.49 |
|
R1897:Rusc2
|
UTSW |
4 |
43,421,749 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2010:Rusc2
|
UTSW |
4 |
43,415,212 (GRCm39) |
missense |
probably benign |
0.06 |
|
R2212:Rusc2
|
UTSW |
4 |
43,415,935 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2275:Rusc2
|
UTSW |
4 |
43,416,260 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2885:Rusc2
|
UTSW |
4 |
43,415,456 (GRCm39) |
missense |
probably benign |
0.28 |
|
R2886:Rusc2
|
UTSW |
4 |
43,415,456 (GRCm39) |
missense |
probably benign |
0.28 |
|
R3412:Rusc2
|
UTSW |
4 |
43,415,935 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3413:Rusc2
|
UTSW |
4 |
43,415,935 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3414:Rusc2
|
UTSW |
4 |
43,415,935 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3852:Rusc2
|
UTSW |
4 |
43,416,424 (GRCm39) |
missense |
probably benign |
0.45 |
|
R4135:Rusc2
|
UTSW |
4 |
43,425,563 (GRCm39) |
missense |
possibly damaging |
0.49 |
|
R4272:Rusc2
|
UTSW |
4 |
43,415,533 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4574:Rusc2
|
UTSW |
4 |
43,416,080 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R4888:Rusc2
|
UTSW |
4 |
43,423,942 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5010:Rusc2
|
UTSW |
4 |
43,415,926 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5071:Rusc2
|
UTSW |
4 |
43,415,240 (GRCm39) |
missense |
probably benign |
0.05 |
|
R5131:Rusc2
|
UTSW |
4 |
43,414,948 (GRCm39) |
missense |
probably benign |
0.03 |
|
R5177:Rusc2
|
UTSW |
4 |
43,421,805 (GRCm39) |
splice site |
probably null |
|
|
R5540:Rusc2
|
UTSW |
4 |
43,423,975 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5561:Rusc2
|
UTSW |
4 |
43,415,932 (GRCm39) |
nonsense |
probably null |
|
|
R5628:Rusc2
|
UTSW |
4 |
43,425,348 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5645:Rusc2
|
UTSW |
4 |
43,425,758 (GRCm39) |
missense |
probably benign |
0.06 |
|
R6129:Rusc2
|
UTSW |
4 |
43,424,271 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6362:Rusc2
|
UTSW |
4 |
43,416,416 (GRCm39) |
missense |
probably benign |
0.30 |
|
R6633:Rusc2
|
UTSW |
4 |
43,414,852 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R6980:Rusc2
|
UTSW |
4 |
43,422,846 (GRCm39) |
missense |
probably benign |
0.35 |
|
R7491:Rusc2
|
UTSW |
4 |
43,426,528 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7641:Rusc2
|
UTSW |
4 |
43,425,335 (GRCm39) |
missense |
possibly damaging |
0.84 |
|
R7698:Rusc2
|
UTSW |
4 |
43,414,900 (GRCm39) |
nonsense |
probably null |
|
|
R7710:Rusc2
|
UTSW |
4 |
43,416,119 (GRCm39) |
missense |
probably benign |
0.07 |
|
R8052:Rusc2
|
UTSW |
4 |
43,421,851 (GRCm39) |
missense |
probably benign |
|
|
R8061:Rusc2
|
UTSW |
4 |
43,422,492 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8127:Rusc2
|
UTSW |
4 |
43,423,747 (GRCm39) |
missense |
possibly damaging |
0.54 |
|
R8319:Rusc2
|
UTSW |
4 |
43,425,378 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8355:Rusc2
|
UTSW |
4 |
43,422,846 (GRCm39) |
missense |
probably benign |
0.35 |
|
R8397:Rusc2
|
UTSW |
4 |
43,424,206 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R8455:Rusc2
|
UTSW |
4 |
43,422,846 (GRCm39) |
missense |
probably benign |
0.35 |
|
R8553:Rusc2
|
UTSW |
4 |
43,416,508 (GRCm39) |
missense |
probably benign |
0.05 |
|
R8725:Rusc2
|
UTSW |
4 |
43,415,396 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R8727:Rusc2
|
UTSW |
4 |
43,401,351 (GRCm39) |
intron |
probably benign |
|
|
R8834:Rusc2
|
UTSW |
4 |
43,416,431 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R9295:Rusc2
|
UTSW |
4 |
43,416,382 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R9483:Rusc2
|
UTSW |
4 |
43,415,897 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R9666:Rusc2
|
UTSW |
4 |
43,416,262 (GRCm39) |
missense |
probably benign |
0.21 |
|
R9705:Rusc2
|
UTSW |
4 |
43,424,936 (GRCm39) |
missense |
probably benign |
0.00 |
|
X0025:Rusc2
|
UTSW |
4 |
43,422,226 (GRCm39) |
missense |
probably benign |
0.00 |
|
X0066:Rusc2
|
UTSW |
4 |
43,422,204 (GRCm39) |
nonsense |
probably null |
|
|
| Predicted Primers |
PCR Primer
(F):5'- TTTACAGCTCTGGACAAGCCG -3'
(R):5'- ATCAGGAGACTAGGCGAGACTC -3'
Sequencing Primer
(F):5'- AGCTCTGGACAAGCCGATTGG -3'
(R):5'- GCGAGACTCAAGTCCTACCTTG -3'
|
| Posted On |
2021-03-08 |
Incidental Mutation