Incidental Mutation 'IGL03174:Rusc1'
| ID |
411938 |
| 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 # |
IGL03174
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
3 |
| Chromosomal Location |
88991288-89000618 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 88999077 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Glycine
at position 235
(D235G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000088447
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000052539]
[ENSMUST00000081848]
[ENSMUST00000090929]
[ENSMUST00000166687]
[ENSMUST00000196043]
[ENSMUST00000196223]
[ENSMUST00000196254]
[ENSMUST00000200659]
[ENSMUST00000199668]
[ENSMUST00000196921]
[ENSMUST00000196709]
|
| AlphaFold |
Q8BG26 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000052539
AA Change: D235G
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000056640
Gene: ENSMUSG00000041263
AA Change: D235G
| 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: D235G
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000088447
Gene: ENSMUSG00000041263
AA Change: D235G
| 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: 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: ENSMUST00000199668
|
| SMART Domains |
Protein: ENSMUSP00000142393
Gene: ENSMUSG00000059743
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:polyprenyl_synt
|
44 |
121 |
3.2e-22 |
PFAM |
|
| 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 |
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 30 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abcb1b |
T |
C |
5: 8,877,752 (GRCm39) |
L703P |
probably benign |
Het |
| Abi3bp |
A |
G |
16: 56,435,110 (GRCm39) |
K602R |
possibly damaging |
Het |
| Ank2 |
T |
C |
3: 126,733,744 (GRCm39) |
D622G |
probably damaging |
Het |
| Bpifb1 |
T |
A |
2: 154,054,969 (GRCm39) |
L287Q |
probably damaging |
Het |
| Brd8 |
T |
C |
18: 34,737,962 (GRCm39) |
E774G |
probably damaging |
Het |
| Cnot1 |
A |
G |
8: 96,487,983 (GRCm39) |
S558P |
probably damaging |
Het |
| Col15a1 |
T |
C |
4: 47,282,666 (GRCm39) |
I781T |
probably damaging |
Het |
| Cyp2j7 |
T |
A |
4: 96,083,607 (GRCm39) |
R448* |
probably null |
Het |
| Dgkb |
A |
T |
12: 38,266,053 (GRCm39) |
I511F |
possibly damaging |
Het |
| Fam221b |
T |
C |
4: 43,666,542 (GRCm39) |
E23G |
probably benign |
Het |
| Gm17067 |
C |
A |
7: 42,360,100 (GRCm39) |
|
probably null |
Het |
| Grin3a |
T |
A |
4: 49,771,107 (GRCm39) |
D555V |
probably damaging |
Het |
| Hid1 |
T |
C |
11: 115,251,215 (GRCm39) |
Y107C |
probably damaging |
Het |
| Kcnd2 |
A |
G |
6: 21,216,515 (GRCm39) |
D73G |
possibly damaging |
Het |
| Kit |
A |
G |
5: 75,767,773 (GRCm39) |
D52G |
probably benign |
Het |
| Llgl1 |
G |
T |
11: 60,597,036 (GRCm39) |
R189L |
probably benign |
Het |
| Lrp2 |
T |
A |
2: 69,296,609 (GRCm39) |
D3315V |
probably damaging |
Het |
| Map3k8 |
A |
G |
18: 4,349,247 (GRCm39) |
S24P |
probably damaging |
Het |
| Nckap5 |
A |
G |
1: 125,909,383 (GRCm39) |
L1616P |
probably damaging |
Het |
| Nrcam |
A |
G |
12: 44,622,789 (GRCm39) |
|
probably benign |
Het |
| Or2d2b |
A |
T |
7: 106,705,477 (GRCm39) |
M197K |
probably benign |
Het |
| Or5b119 |
A |
G |
19: 13,457,433 (GRCm39) |
M43T |
probably benign |
Het |
| Polr1a |
G |
A |
6: 71,954,331 (GRCm39) |
R1595H |
possibly damaging |
Het |
| Pramel29 |
C |
T |
4: 143,935,000 (GRCm39) |
S247N |
probably benign |
Het |
| Serpinb6e |
A |
T |
13: 34,020,463 (GRCm39) |
I215N |
probably damaging |
Het |
| Sfrp4 |
A |
T |
13: 19,816,377 (GRCm39) |
Q137L |
probably benign |
Het |
| Spata31g1 |
T |
C |
4: 42,970,975 (GRCm39) |
Y67H |
probably benign |
Het |
| Vmn2r2 |
C |
T |
3: 64,024,544 (GRCm39) |
W679* |
probably null |
Het |
| Vps8 |
T |
A |
16: 21,285,213 (GRCm39) |
L398H |
probably damaging |
Het |
| Zfp709 |
A |
T |
8: 72,642,870 (GRCm39) |
T99S |
probably benign |
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 |
|
IGL02795:Rusc1
|
APN |
3 |
88,999,257 (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 |
2016-08-02 |
Incidental Mutation