Incidental Mutation 'IGL01395:Rusc1'
ID |
79407 |
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 # |
IGL01395
|
Quality Score |
|
Status
|
|
Chromosome |
3 |
Chromosomal Location |
88991288-89000618 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 88999728 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Glutamine to Arginine
at position 18
(Q18R)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000088447
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000052539]
[ENSMUST00000081848]
[ENSMUST00000090929]
[ENSMUST00000166687]
[ENSMUST00000196043]
[ENSMUST00000196223]
[ENSMUST00000200659]
[ENSMUST00000196921]
[ENSMUST00000196709]
[ENSMUST00000196254]
[ENSMUST00000199668]
|
AlphaFold |
Q8BG26 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000052539
AA Change: Q18R
PolyPhen 2
Score 0.990 (Sensitivity: 0.72; Specificity: 0.97)
|
SMART Domains |
Protein: ENSMUSP00000056640 Gene: ENSMUSG00000041263 AA Change: Q18R
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: Q18R
PolyPhen 2
Score 0.990 (Sensitivity: 0.72; Specificity: 0.97)
|
SMART Domains |
Protein: ENSMUSP00000088447 Gene: ENSMUSG00000041263 AA Change: Q18R
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 |
noncoding transcript
Transcript: ENSMUST00000200433
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000198506
|
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: ENSMUST00000196254
|
SMART Domains |
Protein: ENSMUSP00000142669 Gene: ENSMUSG00000059743
Domain | Start | End | E-Value | Type |
Pfam:polyprenyl_synt
|
1 |
238 |
3.6e-60 |
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: 45 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Afg3l2 |
C |
T |
18: 67,575,880 (GRCm39) |
R52H |
probably benign |
Het |
Alg8 |
T |
A |
7: 97,027,383 (GRCm39) |
Y84N |
possibly damaging |
Het |
B3gnt4 |
T |
A |
5: 123,649,131 (GRCm39) |
F165L |
probably damaging |
Het |
Calcrl |
T |
C |
2: 84,198,919 (GRCm39) |
I157V |
probably benign |
Het |
Clpx |
T |
C |
9: 65,209,133 (GRCm39) |
S83P |
probably benign |
Het |
Col7a1 |
G |
A |
9: 108,812,980 (GRCm39) |
|
probably benign |
Het |
Cttn |
A |
G |
7: 144,011,464 (GRCm39) |
V115A |
probably damaging |
Het |
Dcaf1 |
G |
A |
9: 106,735,361 (GRCm39) |
V770I |
possibly damaging |
Het |
Ddx19a |
A |
G |
8: 111,717,164 (GRCm39) |
|
probably benign |
Het |
Dennd6a |
T |
A |
14: 26,338,056 (GRCm39) |
Y175* |
probably null |
Het |
Dhx58 |
C |
T |
11: 100,594,752 (GRCm39) |
G48D |
probably damaging |
Het |
Dnah8 |
T |
A |
17: 30,854,979 (GRCm39) |
F178I |
probably benign |
Het |
Eif5b |
T |
C |
1: 38,076,339 (GRCm39) |
I629T |
probably damaging |
Het |
Frrs1 |
A |
G |
3: 116,694,654 (GRCm39) |
I492V |
probably benign |
Het |
Gm16505 |
G |
A |
13: 3,411,242 (GRCm39) |
|
noncoding transcript |
Het |
Golga4 |
G |
A |
9: 118,364,441 (GRCm39) |
G259D |
probably damaging |
Het |
Gpatch8 |
T |
C |
11: 102,371,534 (GRCm39) |
H668R |
unknown |
Het |
Gucy2c |
G |
T |
6: 136,675,027 (GRCm39) |
Q1019K |
probably damaging |
Het |
Hivep2 |
T |
C |
10: 14,008,544 (GRCm39) |
|
probably null |
Het |
Jph2 |
T |
C |
2: 163,181,847 (GRCm39) |
N439S |
probably benign |
Het |
Knl1 |
T |
A |
2: 118,902,047 (GRCm39) |
D1249E |
probably damaging |
Het |
Lrrc37a |
A |
G |
11: 103,394,687 (GRCm39) |
V246A |
probably benign |
Het |
Mast1 |
T |
C |
8: 85,639,444 (GRCm39) |
D1295G |
possibly damaging |
Het |
Mical2 |
T |
A |
7: 111,922,792 (GRCm39) |
M599K |
probably damaging |
Het |
Nr3c2 |
T |
C |
8: 77,635,477 (GRCm39) |
S193P |
possibly damaging |
Het |
Nr4a2 |
T |
A |
2: 57,002,165 (GRCm39) |
Q33L |
probably damaging |
Het |
Nrap |
A |
T |
19: 56,350,225 (GRCm39) |
M514K |
probably damaging |
Het |
Or1d2 |
T |
C |
11: 74,255,713 (GRCm39) |
F73L |
probably damaging |
Het |
Or5ac16 |
T |
A |
16: 59,022,460 (GRCm39) |
T110S |
possibly damaging |
Het |
Or9i2 |
A |
T |
19: 13,816,316 (GRCm39) |
S74T |
probably damaging |
Het |
Pde5a |
T |
C |
3: 122,611,604 (GRCm39) |
I514T |
probably benign |
Het |
Plxna4 |
A |
G |
6: 32,216,368 (GRCm39) |
V569A |
probably damaging |
Het |
Ppm1k |
T |
C |
6: 57,490,943 (GRCm39) |
H324R |
probably benign |
Het |
Prdm5 |
A |
G |
6: 65,847,374 (GRCm39) |
H155R |
possibly damaging |
Het |
Prpf19 |
C |
T |
19: 10,878,375 (GRCm39) |
T287I |
probably damaging |
Het |
Prpf8 |
C |
A |
11: 75,385,121 (GRCm39) |
A794D |
possibly damaging |
Het |
Pygb |
C |
A |
2: 150,643,503 (GRCm39) |
Q97K |
probably benign |
Het |
Rab27b |
T |
C |
18: 70,118,288 (GRCm39) |
K210E |
probably benign |
Het |
Rttn |
T |
G |
18: 89,147,894 (GRCm39) |
N2182K |
possibly damaging |
Het |
Stat4 |
C |
T |
1: 52,051,033 (GRCm39) |
R31W |
probably damaging |
Het |
Tas2r135 |
T |
A |
6: 42,382,846 (GRCm39) |
C128* |
probably null |
Het |
Tm9sf3 |
T |
C |
19: 41,244,715 (GRCm39) |
E54G |
probably damaging |
Het |
Tmx1 |
A |
T |
12: 70,507,251 (GRCm39) |
|
probably null |
Het |
Tnrc6c |
T |
A |
11: 117,613,939 (GRCm39) |
V859E |
probably benign |
Het |
Uggt1 |
T |
C |
1: 36,194,158 (GRCm39) |
D1360G |
probably damaging |
Het |
|
Other mutations in Rusc1 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL02795:Rusc1
|
APN |
3 |
88,999,257 (GRCm39) |
missense |
probably damaging |
1.00 |
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 |
2013-11-05 |