Incidental Mutation 'R8120:Rusc1'
| ID |
631441 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Rusc1
|
| Ensembl Gene |
ENSMUSG00000041263 |
| Gene Name |
RUN and SH3 domain containing 1 |
| Synonyms |
2210403N08Rik |
| MMRRC Submission |
067549-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R8120 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
3 |
| Chromosomal Location |
88991288-89000618 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to A
at 88996513 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Tryptophan to Leucine
at position 690
(W690L)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000088447
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000052539]
[ENSMUST00000081848]
[ENSMUST00000090929]
[ENSMUST00000166687]
[ENSMUST00000196043]
[ENSMUST00000196223]
[ENSMUST00000196254]
[ENSMUST00000196709]
[ENSMUST00000200659]
|
| AlphaFold |
Q8BG26 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000052539
AA Change: W553L
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000056640
Gene: ENSMUSG00000041263
AA Change: W553L
| 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: W690L
PolyPhen 2
Score 0.985 (Sensitivity: 0.74; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000088447
Gene: ENSMUSG00000041263
AA Change: W690L
| 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 damaging
Transcript: ENSMUST00000166687
AA Change: W91L
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000130477
Gene: ENSMUSG00000041263
AA Change: W91L
| 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 damaging
Transcript: ENSMUST00000196223
AA Change: W91L
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000143662
Gene: ENSMUSG00000041263
AA Change: W91L
| 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 |
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 |
possibly damaging
Transcript: ENSMUST00000200659
AA Change: W524L
PolyPhen 2
Score 0.847 (Sensitivity: 0.83; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000142694
Gene: ENSMUSG00000105204
AA Change: W524L
| 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 |
|
| Coding Region Coverage |
- 1x: 99.8%
- 3x: 99.6%
- 10x: 98.6%
- 20x: 95.1%
|
| Validation Efficiency |
100% (57/57) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 55 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Aadacl4 |
A |
T |
4: 144,349,460 (GRCm39) |
Q239L |
probably benign |
Het |
| Abca12 |
T |
C |
1: 71,298,540 (GRCm39) |
I2361V |
possibly damaging |
Het |
| Abcc8 |
T |
C |
7: 45,786,108 (GRCm39) |
E655G |
probably benign |
Het |
| Ablim1 |
C |
T |
19: 57,035,360 (GRCm39) |
V662I |
probably benign |
Het |
| Acte1 |
A |
G |
7: 143,425,524 (GRCm39) |
T58A |
probably benign |
Het |
| Als2cl |
A |
C |
9: 110,714,460 (GRCm39) |
I103L |
possibly damaging |
Het |
| Arhgef26 |
A |
T |
3: 62,248,796 (GRCm39) |
D370V |
probably damaging |
Het |
| Brwd1 |
A |
C |
16: 95,820,649 (GRCm39) |
D1292E |
probably benign |
Het |
| Cdc5l |
T |
C |
17: 45,718,796 (GRCm39) |
T607A |
probably benign |
Het |
| Cfhr1 |
T |
C |
1: 139,475,583 (GRCm39) |
Y296C |
unknown |
Het |
| Cubn |
A |
T |
2: 13,336,471 (GRCm39) |
C2452S |
probably damaging |
Het |
| Dgcr2 |
A |
T |
16: 17,675,183 (GRCm39) |
Y187* |
probably null |
Het |
| Dhodh |
G |
A |
8: 110,328,057 (GRCm39) |
T172I |
probably benign |
Het |
| Dnah6 |
G |
A |
6: 73,002,769 (GRCm39) |
R3876C |
probably damaging |
Het |
| Dnai4 |
G |
A |
4: 102,923,531 (GRCm39) |
R433W |
probably damaging |
Het |
| Farsb |
A |
T |
1: 78,439,475 (GRCm39) |
N389K |
probably benign |
Het |
| Fryl |
T |
C |
5: 73,228,527 (GRCm39) |
T1735A |
probably benign |
Het |
| Garin4 |
T |
G |
1: 190,895,022 (GRCm39) |
Q540H |
probably damaging |
Het |
| Gpcpd1 |
C |
T |
2: 132,395,943 (GRCm39) |
R136H |
probably damaging |
Het |
| Gpr171 |
T |
A |
3: 59,005,406 (GRCm39) |
Y123F |
probably damaging |
Het |
| Hcar1 |
C |
A |
5: 124,017,068 (GRCm39) |
V208F |
probably damaging |
Het |
| Hgf |
T |
A |
5: 16,818,779 (GRCm39) |
L524M |
probably damaging |
Het |
| Itga2b |
A |
T |
11: 102,360,368 (GRCm39) |
H57Q |
probably damaging |
Het |
| Itpripl2 |
G |
T |
7: 118,089,508 (GRCm39) |
N350K |
probably damaging |
Het |
| Limk2 |
C |
T |
11: 3,298,589 (GRCm39) |
|
probably null |
Het |
| Nae1 |
A |
T |
8: 105,246,267 (GRCm39) |
V315E |
probably damaging |
Het |
| Nars1 |
T |
C |
18: 64,637,422 (GRCm39) |
Y386C |
probably benign |
Het |
| Odr4 |
T |
C |
1: 150,260,177 (GRCm39) |
|
probably null |
Het |
| Or10j3 |
C |
T |
1: 173,031,502 (GRCm39) |
T193I |
probably benign |
Het |
| Or6z5 |
A |
T |
7: 6,477,119 (GRCm39) |
R3S |
probably benign |
Het |
| Pcnx3 |
C |
T |
19: 5,717,574 (GRCm39) |
A1512T |
probably benign |
Het |
| Pde1b |
A |
G |
15: 103,430,524 (GRCm39) |
D176G |
possibly damaging |
Het |
| Pde4dip |
T |
A |
3: 97,614,254 (GRCm39) |
T1855S |
probably null |
Het |
| Prr12 |
A |
G |
7: 44,684,166 (GRCm39) |
Y1625H |
probably damaging |
Het |
| Psmc2 |
T |
C |
5: 22,005,566 (GRCm39) |
Y216H |
probably damaging |
Het |
| Ptchd3 |
A |
T |
11: 121,733,034 (GRCm39) |
E641D |
probably benign |
Het |
| Rtf1 |
A |
G |
2: 119,531,602 (GRCm39) |
T110A |
probably damaging |
Het |
| Sardh |
A |
G |
2: 27,108,863 (GRCm39) |
V624A |
possibly damaging |
Het |
| Slc17a9 |
G |
A |
2: 180,374,308 (GRCm39) |
G125S |
probably benign |
Het |
| Smpdl3a |
A |
T |
10: 57,683,547 (GRCm39) |
N219I |
probably damaging |
Het |
| Spo11 |
G |
T |
2: 172,827,251 (GRCm39) |
D155Y |
probably damaging |
Het |
| Stk38l |
A |
G |
6: 146,660,099 (GRCm39) |
T44A |
probably benign |
Het |
| Tceanc2 |
A |
T |
4: 107,034,829 (GRCm39) |
I11N |
probably benign |
Het |
| Tead2 |
A |
T |
7: 44,865,752 (GRCm39) |
|
probably benign |
Het |
| Tpk1 |
A |
G |
6: 43,445,930 (GRCm39) |
|
probably null |
Het |
| Ttn |
T |
C |
2: 76,593,835 (GRCm39) |
N20602D |
probably damaging |
Het |
| Tub |
T |
A |
7: 108,624,803 (GRCm39) |
|
probably null |
Het |
| Uba2 |
A |
T |
7: 33,867,812 (GRCm39) |
S42T |
probably benign |
Het |
| Vangl1 |
T |
A |
3: 102,070,758 (GRCm39) |
R393* |
probably null |
Het |
| Washc3 |
G |
A |
10: 88,037,159 (GRCm39) |
|
probably null |
Het |
| Wipf1 |
G |
A |
2: 73,267,879 (GRCm39) |
P173L |
possibly damaging |
Het |
| Zfp217 |
G |
A |
2: 169,961,571 (GRCm39) |
S252F |
possibly damaging |
Het |
| Zfp267 |
A |
T |
3: 36,218,640 (GRCm39) |
N221I |
possibly damaging |
Het |
| Zfp386 |
C |
T |
12: 116,018,573 (GRCm39) |
P81S |
unknown |
Het |
| Zw10 |
A |
T |
9: 48,985,413 (GRCm39) |
E616D |
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 |
|
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 |
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- TTCCGAAGTCAGCAGAGCAG -3'
(R):5'- TTTGCACATTACGCGCTG -3'
Sequencing Primer
(F):5'- AAGGGCCACACTCACTTGAGG -3'
(R):5'- GCTGTTCCCAGGCTCAATTGG -3'
|
| Posted On |
2020-06-30 |
Incidental Mutation