Incidental Mutation 'R3412:Rusc2'
ID |
267756 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Rusc2
|
Ensembl Gene |
ENSMUSG00000035969 |
Gene Name |
RUN and SH3 domain containing 2 |
Synonyms |
|
MMRRC Submission |
040630-MU
|
Accession Numbers |
|
Is this an essential gene? |
Probably non essential
(E-score: 0.170)
|
Stock # |
R3412 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
4 |
Chromosomal Location |
43381979-43427088 bp(+) (GRCm38) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to G
at 43415935 bp (GRCm38)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Serine to Alanine
at position 414
(S414A)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000118528
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000035645]
[ENSMUST00000098106]
[ENSMUST00000125399]
[ENSMUST00000131668]
[ENSMUST00000135216]
[ENSMUST00000136360]
[ENSMUST00000139198]
[ENSMUST00000144911]
[ENSMUST00000173682]
[ENSMUST00000149221]
[ENSMUST00000152322]
|
AlphaFold |
no structure available at present |
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000035645
AA Change: S414A
PolyPhen 2
Score 0.875 (Sensitivity: 0.83; Specificity: 0.93)
|
SMART Domains |
Protein: ENSMUSP00000038379 Gene: ENSMUSG00000035969 AA Change: S414A
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: S414A
PolyPhen 2
Score 0.875 (Sensitivity: 0.83; Specificity: 0.93)
|
SMART Domains |
Protein: ENSMUSP00000095710 Gene: ENSMUSG00000035969 AA Change: S414A
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: ENSMUST00000125393
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000125399
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000131037
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000131668
AA Change: S414A
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000118528 Gene: ENSMUSG00000035969 AA Change: S414A
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 |
noncoding transcript
Transcript: ENSMUST00000146710
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000173682
AA Change: S414A
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000133715 Gene: ENSMUSG00000035969 AA Change: S414A
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 |
noncoding transcript
Transcript: ENSMUST00000150066
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000149556
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000149221
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000152322
|
Meta Mutation Damage Score |
0.1021  |
Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.5%
- 10x: 97.2%
- 20x: 94.8%
|
Validation Efficiency |
98% (40/41) |
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: 38 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Adarb2 |
T |
C |
13: 8,752,618 |
F643S |
probably damaging |
Het |
Ap2a2 |
T |
A |
7: 141,598,776 |
N105K |
probably benign |
Het |
Arhgef5 |
A |
G |
6: 43,273,790 |
I492V |
probably benign |
Het |
Atp8b4 |
C |
A |
2: 126,375,757 |
W613L |
probably damaging |
Het |
Ccdc162 |
T |
C |
10: 41,539,549 |
|
probably benign |
Het |
Diexf |
A |
C |
1: 193,128,502 |
S64R |
possibly damaging |
Het |
Esp24 |
T |
A |
17: 39,038,316 |
I11N |
possibly damaging |
Het |
Exoc4 |
A |
G |
6: 33,265,975 |
E41G |
probably damaging |
Het |
Eya1 |
T |
A |
1: 14,274,209 |
|
probably null |
Het |
Gckr |
T |
A |
5: 31,300,867 |
|
probably null |
Het |
Gm4981 |
G |
A |
10: 58,236,353 |
T13I |
possibly damaging |
Het |
Gria4 |
T |
A |
9: 4,513,278 |
D277V |
probably benign |
Het |
Il18r1 |
A |
T |
1: 40,491,067 |
D318V |
probably damaging |
Het |
Il4i1 |
T |
C |
7: 44,836,658 |
L22P |
probably damaging |
Het |
Inpp5d |
C |
A |
1: 87,668,057 |
T175N |
possibly damaging |
Het |
Krt90 |
T |
A |
15: 101,560,593 |
L171F |
probably damaging |
Het |
Mthfd1 |
A |
G |
12: 76,303,749 |
|
probably null |
Het |
Olfr262 |
T |
C |
19: 12,241,590 |
I24V |
probably benign |
Het |
Olfr561 |
T |
C |
7: 102,774,755 |
L77P |
possibly damaging |
Het |
Olfr635 |
T |
C |
7: 103,979,402 |
L76P |
probably damaging |
Het |
Olfr786 |
A |
T |
10: 129,437,307 |
D165V |
probably damaging |
Het |
Pla2g4f |
T |
C |
2: 120,303,106 |
S579G |
probably benign |
Het |
Ppef2 |
T |
G |
5: 92,228,722 |
S649R |
probably damaging |
Het |
Prss43 |
G |
C |
9: 110,829,464 |
Q277H |
probably damaging |
Het |
Ramp2 |
TTGCTGCTGCTGCTGCTGCTGCTG |
TTGCTGCTGCTGCTGCTGCTG |
11: 101,246,545 |
|
probably benign |
Het |
Sez6l |
A |
G |
5: 112,475,361 |
L108P |
possibly damaging |
Het |
Slc12a5 |
A |
G |
2: 164,968,431 |
D10G |
probably benign |
Het |
Slc1a7 |
A |
G |
4: 108,010,994 |
E497G |
probably benign |
Het |
Sos1 |
T |
C |
17: 80,406,717 |
D1108G |
probably benign |
Het |
Spag8 |
T |
A |
4: 43,651,606 |
S423C |
probably damaging |
Het |
Tacc2 |
A |
G |
7: 130,734,994 |
T2369A |
probably benign |
Het |
Taok2 |
T |
C |
7: 126,870,858 |
I933V |
possibly damaging |
Het |
Tex9 |
C |
A |
9: 72,477,758 |
Q265H |
possibly damaging |
Het |
Trim69 |
T |
C |
2: 122,178,644 |
V395A |
probably benign |
Het |
Tusc1 |
C |
A |
4: 93,334,936 |
R162L |
probably damaging |
Het |
Ubr5 |
T |
C |
15: 38,004,235 |
|
probably benign |
Het |
Zfyve28 |
C |
T |
5: 34,199,684 |
M723I |
probably benign |
Het |
Zmynd8 |
A |
T |
2: 165,815,451 |
M533K |
probably damaging |
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 |
R0036:Rusc2
|
UTSW |
4 |
43424009 |
missense |
probably damaging |
1.00 |
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 |
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 |
R8725:Rusc2
|
UTSW |
4 |
43401351 |
intron |
probably benign |
|
R8725:Rusc2
|
UTSW |
4 |
43415396 |
missense |
probably damaging |
0.99 |
R8727:Rusc2
|
UTSW |
4 |
43401351 |
intron |
probably benign |
|
R8834:Rusc2
|
UTSW |
4 |
43416431 |
missense |
possibly damaging |
0.94 |
R9295:Rusc2
|
UTSW |
4 |
43416382 |
missense |
probably damaging |
0.98 |
R9483:Rusc2
|
UTSW |
4 |
43415897 |
missense |
probably damaging |
0.97 |
X0025:Rusc2
|
UTSW |
4 |
43422226 |
missense |
probably benign |
0.00 |
X0066:Rusc2
|
UTSW |
4 |
43422204 |
nonsense |
probably null |
|
|
Predicted Primers |
PCR Primer
(F):5'- AGAATGTCTTGCGAGTCCCAC -3'
(R):5'- CCTGCCCTTCAAGTACAGTG -3'
Sequencing Primer
(F):5'- AAGAGGGCTGTGGCTGTCC -3'
(R):5'- TTCAAGTACAGTGGGGCCCATG -3'
|
Posted On |
2015-02-18 |