Incidental Mutation 'IGL02795:Rusc1'
| ID |
359932 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Rusc1
|
| Ensembl Gene |
ENSMUSG00000041263 |
| Gene Name |
RUN and SH3 domain containing 1 |
| Synonyms |
2210403N08Rik |
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
IGL02795
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
3 |
| Chromosomal Location |
88991288-89000618 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 88999257 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Leucine to Glutamine
at position 175
(L175Q)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000088447
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000052539]
[ENSMUST00000081848]
[ENSMUST00000090929]
[ENSMUST00000166687]
[ENSMUST00000196043]
[ENSMUST00000196223]
[ENSMUST00000196254]
[ENSMUST00000200659]
[ENSMUST00000196921]
[ENSMUST00000196709]
[ENSMUST00000199668]
|
| AlphaFold |
Q8BG26 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000052539
AA Change: L175Q
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000056640
Gene: ENSMUSG00000041263
AA Change: L175Q
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
95 |
117 |
N/A |
INTRINSIC |
|
low complexity region
|
149 |
165 |
N/A |
INTRINSIC |
|
low complexity region
|
374 |
383 |
N/A |
INTRINSIC |
|
low complexity region
|
389 |
402 |
N/A |
INTRINSIC |
|
low complexity region
|
429 |
440 |
N/A |
INTRINSIC |
|
low complexity region
|
577 |
588 |
N/A |
INTRINSIC |
|
RUN
|
589 |
657 |
2.75e-16 |
SMART |
|
low complexity region
|
669 |
683 |
N/A |
INTRINSIC |
|
low complexity region
|
702 |
714 |
N/A |
INTRINSIC |
|
low complexity region
|
753 |
770 |
N/A |
INTRINSIC |
|
SH3
|
838 |
893 |
4.32e-12 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000081848
|
| SMART Domains |
Protein: ENSMUSP00000080531
Gene: ENSMUSG00000059743
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:polyprenyl_synt
|
47 |
313 |
2e-82 |
PFAM |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000090929
AA Change: L175Q
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000088447
Gene: ENSMUSG00000041263
AA Change: L175Q
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
95 |
117 |
N/A |
INTRINSIC |
|
low complexity region
|
149 |
165 |
N/A |
INTRINSIC |
|
internal_repeat_1
|
195 |
244 |
5.11e-5 |
PROSPERO |
|
internal_repeat_1
|
247 |
292 |
5.11e-5 |
PROSPERO |
|
low complexity region
|
374 |
383 |
N/A |
INTRINSIC |
|
low complexity region
|
389 |
402 |
N/A |
INTRINSIC |
|
low complexity region
|
429 |
440 |
N/A |
INTRINSIC |
|
low complexity region
|
463 |
479 |
N/A |
INTRINSIC |
|
low complexity region
|
522 |
543 |
N/A |
INTRINSIC |
|
low complexity region
|
546 |
584 |
N/A |
INTRINSIC |
|
low complexity region
|
714 |
725 |
N/A |
INTRINSIC |
|
RUN
|
726 |
794 |
2.75e-16 |
SMART |
|
low complexity region
|
806 |
820 |
N/A |
INTRINSIC |
|
low complexity region
|
839 |
851 |
N/A |
INTRINSIC |
|
low complexity region
|
890 |
907 |
N/A |
INTRINSIC |
|
SH3
|
975 |
1030 |
4.32e-12 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000166687
|
| SMART Domains |
Protein: ENSMUSP00000130477
Gene: ENSMUSG00000041263
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
115 |
126 |
N/A |
INTRINSIC |
|
RUN
|
127 |
195 |
2.75e-16 |
SMART |
|
low complexity region
|
207 |
221 |
N/A |
INTRINSIC |
|
low complexity region
|
240 |
252 |
N/A |
INTRINSIC |
|
low complexity region
|
291 |
308 |
N/A |
INTRINSIC |
|
SH3
|
376 |
431 |
4.32e-12 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000196043
|
| SMART Domains |
Protein: ENSMUSP00000142622
Gene: ENSMUSG00000041263
| Domain | Start | End | E-Value | Type |
|---|
|
PDB:4GIW|B
|
8 |
79 |
5e-45 |
PDB |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000196223
|
| SMART Domains |
Protein: ENSMUSP00000143662
Gene: ENSMUSG00000041263
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:RUN
|
61 |
166 |
2.1e-17 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000196254
|
| SMART Domains |
Protein: ENSMUSP00000142669
Gene: ENSMUSG00000059743
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:polyprenyl_synt
|
1 |
238 |
3.6e-60 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000198506
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000200433
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000200357
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000200659
|
| SMART Domains |
Protein: ENSMUSP00000142694
Gene: ENSMUSG00000105204
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
21 |
N/A |
INTRINSIC |
|
Pfam:polyprenyl_synt
|
111 |
334 |
3.2e-55 |
PFAM |
|
low complexity region
|
548 |
559 |
N/A |
INTRINSIC |
|
RUN
|
560 |
628 |
9.3e-19 |
SMART |
|
low complexity region
|
640 |
654 |
N/A |
INTRINSIC |
|
low complexity region
|
673 |
685 |
N/A |
INTRINSIC |
|
low complexity region
|
724 |
741 |
N/A |
INTRINSIC |
|
SH3
|
809 |
862 |
2.8e-10 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000196921
|
| SMART Domains |
Protein: ENSMUSP00000142704
Gene: ENSMUSG00000059743
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
21 |
N/A |
INTRINSIC |
|
Pfam:polyprenyl_synt
|
111 |
226 |
7.9e-30 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000196709
|
| SMART Domains |
Protein: ENSMUSP00000142770
Gene: ENSMUSG00000059743
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:polyprenyl_synt
|
44 |
316 |
8.7e-84 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000199668
|
| SMART Domains |
Protein: ENSMUSP00000142393
Gene: ENSMUSG00000059743
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:polyprenyl_synt
|
44 |
121 |
3.2e-22 |
PFAM |
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 56 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca12 |
A |
G |
1: 71,327,907 (GRCm39) |
L1391P |
probably damaging |
Het |
| Abcc3 |
G |
A |
11: 94,252,468 (GRCm39) |
|
probably benign |
Het |
| Acvr1 |
A |
G |
2: 58,352,964 (GRCm39) |
I332T |
probably damaging |
Het |
| Atp8a2 |
C |
T |
14: 60,271,191 (GRCm39) |
V247M |
probably damaging |
Het |
| Btn1a1 |
T |
C |
13: 23,644,786 (GRCm39) |
|
probably null |
Het |
| Btnl9 |
A |
T |
11: 49,065,694 (GRCm39) |
|
probably benign |
Het |
| Dbx1 |
T |
A |
7: 49,286,325 (GRCm39) |
I47F |
probably benign |
Het |
| Dennd2b |
T |
C |
7: 109,155,571 (GRCm39) |
Y393C |
probably damaging |
Het |
| Dnaja3 |
A |
G |
16: 4,507,937 (GRCm39) |
|
probably benign |
Het |
| Dnmt1 |
T |
C |
9: 20,838,407 (GRCm39) |
S220G |
probably benign |
Het |
| Dock9 |
A |
T |
14: 121,877,390 (GRCm39) |
M451K |
probably benign |
Het |
| Eml3 |
A |
G |
19: 8,911,142 (GRCm39) |
Y257C |
probably benign |
Het |
| Fam3d |
T |
A |
14: 8,355,497 (GRCm38) |
M113L |
probably benign |
Het |
| Fbxw19 |
C |
A |
9: 109,324,886 (GRCm39) |
M10I |
possibly damaging |
Het |
| Flg2 |
C |
T |
3: 93,110,920 (GRCm39) |
R983W |
unknown |
Het |
| Galnt5 |
C |
A |
2: 57,917,883 (GRCm39) |
P707H |
probably damaging |
Het |
| Gba2 |
G |
T |
4: 43,578,331 (GRCm39) |
P6Q |
probably damaging |
Het |
| Gm13199 |
A |
G |
2: 5,867,484 (GRCm39) |
|
probably benign |
Het |
| Gpr45 |
C |
T |
1: 43,071,653 (GRCm39) |
R99C |
possibly damaging |
Het |
| Hecw1 |
G |
A |
13: 14,497,102 (GRCm39) |
S302L |
probably damaging |
Het |
| Hrg |
T |
C |
16: 22,776,303 (GRCm39) |
|
probably benign |
Het |
| Lama1 |
A |
G |
17: 68,045,889 (GRCm39) |
|
probably null |
Het |
| Lgr4 |
T |
C |
2: 109,838,555 (GRCm39) |
|
probably benign |
Het |
| Lrrc9 |
C |
T |
12: 72,525,542 (GRCm39) |
T830M |
probably damaging |
Het |
| Mdga2 |
T |
C |
12: 66,736,206 (GRCm39) |
T341A |
probably benign |
Het |
| Mms19 |
C |
T |
19: 41,940,845 (GRCm39) |
|
probably null |
Het |
| Nectin1 |
A |
G |
9: 43,714,849 (GRCm39) |
S362G |
probably benign |
Het |
| Nlrc3 |
G |
T |
16: 3,783,149 (GRCm39) |
H87N |
probably damaging |
Het |
| Or1e17 |
G |
A |
11: 73,831,755 (GRCm39) |
V228I |
probably benign |
Het |
| Or2ah1 |
T |
A |
2: 85,653,856 (GRCm39) |
C180* |
probably null |
Het |
| Or4b13 |
A |
G |
2: 90,082,906 (GRCm39) |
L142P |
probably damaging |
Het |
| Or52a20 |
T |
A |
7: 103,366,090 (GRCm39) |
F96L |
probably benign |
Het |
| Or5h17 |
G |
T |
16: 58,820,640 (GRCm39) |
L197F |
possibly damaging |
Het |
| Pcsk1 |
G |
T |
13: 75,260,739 (GRCm39) |
G321C |
probably damaging |
Het |
| Poglut3 |
A |
G |
9: 53,303,405 (GRCm39) |
D99G |
probably damaging |
Het |
| Prrc2c |
G |
T |
1: 162,541,868 (GRCm39) |
P374T |
probably benign |
Het |
| Ryr2 |
T |
C |
13: 11,610,076 (GRCm39) |
N4250S |
probably benign |
Het |
| Scara5 |
A |
C |
14: 65,968,129 (GRCm39) |
N134T |
possibly damaging |
Het |
| Sema4d |
T |
C |
13: 51,857,447 (GRCm39) |
K595R |
probably benign |
Het |
| Serpinb6a |
A |
C |
13: 34,115,576 (GRCm39) |
L15R |
probably damaging |
Het |
| Setdb1 |
A |
T |
3: 95,234,684 (GRCm39) |
N1006K |
probably damaging |
Het |
| Slc18a2 |
G |
A |
19: 59,262,922 (GRCm39) |
|
probably benign |
Het |
| Slc22a30 |
C |
T |
19: 8,378,259 (GRCm39) |
C139Y |
probably damaging |
Het |
| Slc25a27 |
T |
A |
17: 43,958,003 (GRCm39) |
Y269F |
probably damaging |
Het |
| Slc9c1 |
A |
T |
16: 45,395,782 (GRCm39) |
D611V |
probably benign |
Het |
| Spag6 |
G |
T |
2: 18,737,894 (GRCm39) |
V255F |
probably benign |
Het |
| Svep1 |
C |
A |
4: 58,123,223 (GRCm39) |
G698W |
probably damaging |
Het |
| Syne2 |
T |
C |
12: 76,013,323 (GRCm39) |
L2839P |
probably damaging |
Het |
| Tfb2m |
T |
C |
1: 179,373,524 (GRCm39) |
E58G |
possibly damaging |
Het |
| Trim24 |
A |
T |
6: 37,896,324 (GRCm39) |
E260D |
probably damaging |
Het |
| Ugt2b1 |
T |
A |
5: 87,065,560 (GRCm39) |
D493V |
probably damaging |
Het |
| Vmn1r27 |
A |
G |
6: 58,192,287 (GRCm39) |
V189A |
possibly damaging |
Het |
| Vmn2r91 |
A |
G |
17: 18,305,539 (GRCm39) |
Q74R |
probably benign |
Het |
| Vps25 |
A |
G |
11: 101,146,916 (GRCm39) |
Y64C |
probably damaging |
Het |
| Xirp2 |
G |
A |
2: 67,339,480 (GRCm39) |
G574S |
probably damaging |
Het |
| Ythdc2 |
A |
G |
18: 44,970,505 (GRCm39) |
E273G |
possibly damaging |
Het |
|
| Other mutations in Rusc1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01395:Rusc1
|
APN |
3 |
88,999,728 (GRCm39) |
missense |
probably damaging |
0.99 |
|
IGL03174:Rusc1
|
APN |
3 |
88,999,077 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0422:Rusc1
|
UTSW |
3 |
88,994,132 (GRCm39) |
missense |
probably benign |
0.01 |
|
R1711:Rusc1
|
UTSW |
3 |
88,996,600 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1846:Rusc1
|
UTSW |
3 |
88,999,452 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2060:Rusc1
|
UTSW |
3 |
88,995,155 (GRCm39) |
missense |
possibly damaging |
0.86 |
|
R2114:Rusc1
|
UTSW |
3 |
88,999,014 (GRCm39) |
missense |
probably benign |
|
|
R2209:Rusc1
|
UTSW |
3 |
88,996,128 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3081:Rusc1
|
UTSW |
3 |
88,999,030 (GRCm39) |
missense |
possibly damaging |
0.84 |
|
R3155:Rusc1
|
UTSW |
3 |
88,999,038 (GRCm39) |
missense |
probably benign |
0.03 |
|
R3156:Rusc1
|
UTSW |
3 |
88,999,038 (GRCm39) |
missense |
probably benign |
0.03 |
|
R4499:Rusc1
|
UTSW |
3 |
88,999,615 (GRCm39) |
missense |
probably benign |
0.02 |
|
R4678:Rusc1
|
UTSW |
3 |
88,997,027 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4725:Rusc1
|
UTSW |
3 |
88,998,736 (GRCm39) |
missense |
possibly damaging |
0.83 |
|
R4762:Rusc1
|
UTSW |
3 |
88,998,949 (GRCm39) |
missense |
probably benign |
|
|
R4890:Rusc1
|
UTSW |
3 |
88,995,577 (GRCm39) |
critical splice acceptor site |
probably null |
|
|
R5176:Rusc1
|
UTSW |
3 |
88,996,389 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5783:Rusc1
|
UTSW |
3 |
88,995,452 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5910:Rusc1
|
UTSW |
3 |
88,999,027 (GRCm39) |
missense |
probably benign |
0.05 |
|
R6189:Rusc1
|
UTSW |
3 |
88,996,319 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6190:Rusc1
|
UTSW |
3 |
88,999,188 (GRCm39) |
missense |
probably benign |
|
|
R6227:Rusc1
|
UTSW |
3 |
88,999,048 (GRCm39) |
missense |
probably benign |
0.06 |
|
R7087:Rusc1
|
UTSW |
3 |
88,996,799 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R7184:Rusc1
|
UTSW |
3 |
88,999,194 (GRCm39) |
missense |
possibly damaging |
0.61 |
|
R7237:Rusc1
|
UTSW |
3 |
88,998,805 (GRCm39) |
missense |
possibly damaging |
0.66 |
|
R7343:Rusc1
|
UTSW |
3 |
88,999,057 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R8120:Rusc1
|
UTSW |
3 |
88,996,513 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R8802:Rusc1
|
UTSW |
3 |
88,999,540 (GRCm39) |
missense |
probably benign |
|
|
R8939:Rusc1
|
UTSW |
3 |
88,995,337 (GRCm39) |
missense |
probably benign |
0.14 |
|
R8960:Rusc1
|
UTSW |
3 |
88,991,865 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R8992:Rusc1
|
UTSW |
3 |
88,999,365 (GRCm39) |
missense |
probably benign |
0.11 |
|
R9056:Rusc1
|
UTSW |
3 |
88,996,990 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R9483:Rusc1
|
UTSW |
3 |
88,994,113 (GRCm39) |
missense |
probably benign |
0.00 |
|
R9541:Rusc1
|
UTSW |
3 |
88,998,922 (GRCm39) |
missense |
possibly damaging |
0.78 |
|
R9734:Rusc1
|
UTSW |
3 |
88,996,496 (GRCm39) |
missense |
probably damaging |
0.96 |
|
Z1177:Rusc1
|
UTSW |
3 |
88,996,340 (GRCm39) |
missense |
probably damaging |
0.98 |
|
| Posted On |
2015-12-18 |
Incidental Mutation