Incidental Mutation 'R2275:Rusc2'
| ID |
242710 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Rusc2
|
| Ensembl Gene |
ENSMUSG00000035969 |
| Gene Name |
RUN and SH3 domain containing 2 |
| Synonyms |
|
| MMRRC Submission |
040274-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.158)
|
| Stock # |
R2275 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
4 |
| Chromosomal Location |
43381979-43427088 bp(+) (GRCm38) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to A
at 43416260 bp (GRCm38)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Arginine to Histidine
at position 522
(R522H)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000133715
(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 |
probably damaging
Transcript: ENSMUST00000035645
AA Change: R522H
PolyPhen 2
Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000038379
Gene: ENSMUSG00000035969
AA Change: R522H
| 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 damaging
Transcript: ENSMUST00000098106
AA Change: R522H
PolyPhen 2
Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000095710
Gene: ENSMUSG00000035969
AA Change: R522H
| 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: R522H
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000118528
Gene: ENSMUSG00000035969
AA Change: R522H
| 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: R522H
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000133715
Gene: ENSMUSG00000035969
AA Change: R522H
| 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
|
| Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.5%
- 10x: 97.1%
- 20x: 94.6%
|
| 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: 73 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1700013F07Rik |
A |
G |
3: 108,542,503 (GRCm38) |
N33D |
possibly damaging |
Het |
| 2300003K06Rik |
A |
T |
11: 99,837,841 (GRCm38) |
C59S |
possibly damaging |
Het |
| Abca5 |
A |
T |
11: 110,275,281 (GRCm38) |
N1556K |
possibly damaging |
Het |
| Ackr1 |
T |
C |
1: 173,332,485 (GRCm38) |
N156D |
probably benign |
Het |
| Aco2 |
C |
T |
15: 81,895,264 (GRCm38) |
R57C |
probably benign |
Het |
| Adamtsl3 |
A |
T |
7: 82,606,558 (GRCm38) |
S1593C |
probably benign |
Het |
| Adgrb2 |
G |
A |
4: 130,006,854 (GRCm38) |
G333D |
probably damaging |
Het |
| Arhgef7 |
T |
A |
8: 11,815,010 (GRCm38) |
F374Y |
possibly damaging |
Het |
| Armc4 |
C |
A |
18: 7,223,676 (GRCm38) |
G456W |
probably benign |
Het |
| Atxn7 |
T |
A |
14: 14,013,268 (GRCm38) |
M62K |
possibly damaging |
Het |
| C87436 |
G |
A |
6: 86,445,600 (GRCm38) |
R52H |
probably damaging |
Het |
| Cacna1g |
T |
A |
11: 94,415,936 (GRCm38) |
E1842V |
probably damaging |
Het |
| Cdh4 |
T |
C |
2: 179,890,847 (GRCm38) |
S701P |
probably damaging |
Het |
| Cdr2 |
A |
T |
7: 120,958,509 (GRCm38) |
H264Q |
possibly damaging |
Het |
| Cecr2 |
C |
T |
6: 120,756,741 (GRCm38) |
S563L |
probably benign |
Het |
| Col12a1 |
A |
T |
9: 79,635,427 (GRCm38) |
V2352E |
probably damaging |
Het |
| Col9a2 |
C |
G |
4: 121,054,258 (GRCm38) |
R599G |
probably damaging |
Het |
| Crygs |
C |
T |
16: 22,805,551 (GRCm38) |
G102D |
possibly damaging |
Het |
| Csad |
G |
T |
15: 102,187,122 (GRCm38) |
R167S |
probably damaging |
Het |
| Dnlz |
A |
T |
2: 26,351,471 (GRCm38) |
C82S |
probably damaging |
Het |
| Ehmt2 |
T |
A |
17: 34,910,715 (GRCm38) |
N951K |
possibly damaging |
Het |
| Emilin1 |
C |
T |
5: 30,917,738 (GRCm38) |
P441L |
possibly damaging |
Het |
| Enpp2 |
A |
C |
15: 54,897,794 (GRCm38) |
Y221D |
probably damaging |
Het |
| Exoc3l |
A |
T |
8: 105,290,447 (GRCm38) |
|
probably null |
Het |
| F11 |
T |
C |
8: 45,252,147 (GRCm38) |
D119G |
possibly damaging |
Het |
| Faiml |
T |
C |
9: 99,229,559 (GRCm38) |
Y149C |
probably benign |
Het |
| Fn1 |
C |
T |
1: 71,613,943 (GRCm38) |
G1296R |
probably null |
Het |
| Glg1 |
A |
T |
8: 111,168,721 (GRCm38) |
Y819* |
probably null |
Het |
| Gm11568 |
A |
G |
11: 99,858,244 (GRCm38) |
S92G |
unknown |
Het |
| Gm28042 |
A |
C |
2: 120,036,829 (GRCm38) |
Q465P |
probably damaging |
Het |
| Gpatch1 |
A |
T |
7: 35,288,678 (GRCm38) |
S678T |
probably benign |
Het |
| Gpr158 |
A |
T |
2: 21,826,863 (GRCm38) |
M925L |
probably benign |
Het |
| Hecw1 |
T |
C |
13: 14,346,068 (GRCm38) |
T195A |
probably benign |
Het |
| Hoxd1 |
A |
G |
2: 74,764,157 (GRCm38) |
K252R |
probably damaging |
Het |
| Iqck |
G |
A |
7: 118,899,657 (GRCm38) |
D173N |
possibly damaging |
Het |
| Kcnh1 |
T |
G |
1: 192,337,521 (GRCm38) |
V358G |
probably damaging |
Het |
| Kifap3 |
T |
A |
1: 163,868,758 (GRCm38) |
V652D |
possibly damaging |
Het |
| Knl1 |
C |
A |
2: 119,072,281 (GRCm38) |
Q1488K |
probably damaging |
Het |
| Map4k1 |
T |
A |
7: 29,001,957 (GRCm38) |
H729Q |
probably damaging |
Het |
| March1 |
T |
A |
8: 66,387,499 (GRCm38) |
N311K |
probably benign |
Het |
| Mypn |
A |
G |
10: 63,131,069 (GRCm38) |
F943L |
probably damaging |
Het |
| Nkpd1 |
A |
G |
7: 19,523,897 (GRCm38) |
I534V |
probably benign |
Het |
| Nrarp |
T |
C |
2: 25,181,409 (GRCm38) |
V100A |
possibly damaging |
Het |
| Nt5c1a |
T |
C |
4: 123,216,080 (GRCm38) |
F324S |
probably damaging |
Het |
| Ntrk2 |
T |
A |
13: 58,861,351 (GRCm38) |
Y319N |
probably damaging |
Het |
| Olfr1170 |
A |
G |
2: 88,224,823 (GRCm38) |
F70L |
probably benign |
Het |
| Parg |
A |
G |
14: 32,295,238 (GRCm38) |
D384G |
probably damaging |
Het |
| Pde7b |
T |
A |
10: 20,400,419 (GRCm38) |
*460L |
probably null |
Het |
| Pigr |
G |
T |
1: 130,846,470 (GRCm38) |
V396L |
probably benign |
Het |
| Pkhd1 |
A |
G |
1: 20,200,849 (GRCm38) |
I3160T |
possibly damaging |
Het |
| Ppl |
T |
C |
16: 5,094,552 (GRCm38) |
S722G |
probably benign |
Het |
| Ppp1r26 |
A |
G |
2: 28,452,701 (GRCm38) |
E781G |
possibly damaging |
Het |
| Rptor |
T |
A |
11: 119,756,322 (GRCm38) |
C246* |
probably null |
Het |
| Senp7 |
T |
C |
16: 56,184,783 (GRCm38) |
S927P |
probably damaging |
Het |
| Serpinb6d |
A |
T |
13: 33,671,428 (GRCm38) |
M362L |
probably benign |
Het |
| Setx |
GTGGCT |
GT |
2: 29,154,061 (GRCm38) |
1814 |
probably null |
Het |
| Slc12a3 |
T |
A |
8: 94,333,287 (GRCm38) |
I187N |
possibly damaging |
Het |
| Slc46a1 |
T |
G |
11: 78,466,423 (GRCm38) |
S101A |
probably benign |
Het |
| Slc4a8 |
A |
G |
15: 100,807,402 (GRCm38) |
M830V |
probably benign |
Het |
| Slco4a1 |
T |
C |
2: 180,464,736 (GRCm38) |
L237P |
possibly damaging |
Het |
| Sned1 |
T |
A |
1: 93,281,642 (GRCm38) |
|
probably null |
Het |
| Tia1 |
A |
G |
6: 86,427,677 (GRCm38) |
N298S |
probably benign |
Het |
| Tsr1 |
A |
T |
11: 74,904,827 (GRCm38) |
|
probably null |
Het |
| Ttc6 |
G |
A |
12: 57,702,298 (GRCm38) |
V1339I |
probably benign |
Het |
| Tyrp1 |
A |
T |
4: 80,837,534 (GRCm38) |
E180V |
probably damaging |
Het |
| Ubr3 |
T |
C |
2: 70,016,341 (GRCm38) |
V1636A |
probably benign |
Het |
| Usp1 |
T |
C |
4: 98,929,842 (GRCm38) |
L139P |
probably damaging |
Het |
| Vmn1r228 |
A |
G |
17: 20,776,545 (GRCm38) |
L237P |
probably damaging |
Het |
| Vmn1r232 |
A |
G |
17: 20,914,203 (GRCm38) |
L45P |
probably benign |
Het |
| Vmn2r2 |
T |
C |
3: 64,116,509 (GRCm38) |
R884G |
probably benign |
Het |
| Vmn2r60 |
T |
A |
7: 42,136,827 (GRCm38) |
Y351* |
probably null |
Het |
| Zbtb7a |
G |
A |
10: 81,144,997 (GRCm38) |
V342I |
possibly damaging |
Het |
| Zdhhc11 |
C |
A |
13: 73,973,752 (GRCm38) |
N127K |
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 |
|
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 |
|
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'- AGTATTACCTCTTCCAGAAGCCAG -3'
(R):5'- TGGATGGGCGAGAACTCTTG -3'
Sequencing Primer
(F):5'- TTACCTCTTCCAGAAGCCAGACATC -3'
(R):5'- TCTTGGGAAGAATCTCCAACG -3'
|
| Posted On |
2014-10-16 |
Incidental Mutation