Incidental Mutation 'R8802:Rusc1'
| ID |
671542 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Rusc1
|
| Ensembl Gene |
ENSMUSG00000041263 |
| Gene Name |
RUN and SH3 domain containing 1 |
| Synonyms |
2210403N08Rik |
| MMRRC Submission |
068639-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R8802 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
3 |
| Chromosomal Location |
88991288-89000618 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 88999540 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Leucine
at position 81
(I81L)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000088447
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000052539]
[ENSMUST00000081848]
[ENSMUST00000090929]
[ENSMUST00000166687]
[ENSMUST00000196043]
[ENSMUST00000196223]
[ENSMUST00000196254]
[ENSMUST00000196709]
[ENSMUST00000196921]
[ENSMUST00000199668]
[ENSMUST00000200659]
|
| AlphaFold |
Q8BG26 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000052539
AA Change: I81L
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000056640
Gene: ENSMUSG00000041263
AA Change: I81L
| 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 benign
Transcript: ENSMUST00000090929
AA Change: I81L
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000088447
Gene: ENSMUSG00000041263
AA Change: I81L
| 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 |
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: 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: 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: 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 |
|
| Meta Mutation Damage Score |
0.0846 |
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.8%
- 20x: 99.4%
|
| Validation Efficiency |
100% (59/59) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 61 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 2900092C05Rik |
A |
G |
7: 12,249,415 (GRCm39) |
T83A |
possibly damaging |
Het |
| Abcc6 |
A |
G |
7: 45,658,283 (GRCm39) |
L451P |
probably damaging |
Het |
| Ak5 |
T |
C |
3: 152,321,631 (GRCm39) |
E252G |
probably damaging |
Het |
| Atg4a-ps |
T |
A |
3: 103,552,686 (GRCm39) |
K218N |
probably damaging |
Het |
| Bglap2 |
T |
A |
3: 88,285,568 (GRCm39) |
M35L |
probably benign |
Het |
| Bicral |
A |
G |
17: 47,135,626 (GRCm39) |
M528T |
probably benign |
Het |
| Cdh23 |
A |
G |
10: 60,244,877 (GRCm39) |
V1008A |
probably benign |
Het |
| Chil6 |
A |
T |
3: 106,312,208 (GRCm39) |
L31Q |
probably damaging |
Het |
| Ctnnd2 |
T |
C |
15: 30,967,022 (GRCm39) |
V991A |
probably damaging |
Het |
| Dcc |
T |
C |
18: 71,959,125 (GRCm39) |
N216D |
probably damaging |
Het |
| Dcdc2c |
T |
A |
12: 28,576,720 (GRCm39) |
D106V |
probably benign |
Het |
| Dchs2 |
T |
C |
3: 83,253,544 (GRCm39) |
I2318T |
probably benign |
Het |
| Fat2 |
A |
G |
11: 55,173,750 (GRCm39) |
F2321S |
possibly damaging |
Het |
| Fbxw7 |
T |
C |
3: 84,859,693 (GRCm39) |
V5A |
unknown |
Het |
| Fn3krp |
T |
C |
11: 121,315,813 (GRCm39) |
V68A |
probably damaging |
Het |
| Gcn1 |
T |
C |
5: 115,747,942 (GRCm39) |
L1783P |
probably damaging |
Het |
| Gdf6 |
C |
T |
4: 9,844,769 (GRCm39) |
H98Y |
probably damaging |
Het |
| Gm13271 |
C |
A |
4: 88,673,247 (GRCm39) |
P48Q |
probably damaging |
Het |
| Gm4871 |
A |
T |
5: 144,966,876 (GRCm39) |
N202K |
probably benign |
Het |
| Gucy1a2 |
G |
A |
9: 3,635,050 (GRCm39) |
V365I |
probably benign |
Het |
| Hadhb |
C |
T |
5: 30,378,831 (GRCm39) |
Q157* |
probably null |
Het |
| Hivep2 |
C |
T |
10: 14,015,166 (GRCm39) |
R1778C |
probably damaging |
Het |
| Hmcn2 |
T |
A |
2: 31,301,288 (GRCm39) |
V2845E |
probably damaging |
Het |
| Hps3 |
T |
A |
3: 20,074,070 (GRCm39) |
I431L |
probably damaging |
Het |
| Idh1 |
CA |
CAA |
1: 65,204,347 (GRCm39) |
|
probably null |
Het |
| Igkv12-38 |
A |
T |
6: 69,920,390 (GRCm39) |
C43S |
probably damaging |
Het |
| Jph2 |
T |
A |
2: 163,239,184 (GRCm39) |
H88L |
probably damaging |
Het |
| Kmt2b |
G |
A |
7: 30,283,496 (GRCm39) |
R955W |
probably damaging |
Het |
| Lrrc4c |
A |
G |
2: 97,460,603 (GRCm39) |
T410A |
possibly damaging |
Het |
| Ltf |
C |
T |
9: 110,850,018 (GRCm39) |
P14S |
probably benign |
Het |
| Mapk8ip3 |
G |
A |
17: 25,124,206 (GRCm39) |
R521C |
probably damaging |
Het |
| Nampt |
C |
A |
12: 32,900,435 (GRCm39) |
T460K |
probably benign |
Het |
| Nek9 |
T |
C |
12: 85,374,192 (GRCm39) |
I282V |
probably benign |
Het |
| Ninl |
A |
T |
2: 150,777,172 (GRCm39) |
V1394E |
probably damaging |
Het |
| Obox6 |
G |
A |
7: 15,567,772 (GRCm39) |
S225L |
probably damaging |
Het |
| Or6k4 |
A |
G |
1: 173,964,616 (GRCm39) |
Y102C |
probably damaging |
Het |
| Pcdha4 |
A |
G |
18: 37,087,211 (GRCm39) |
K465E |
possibly damaging |
Het |
| Pex11g |
T |
C |
8: 3,507,308 (GRCm39) |
K151R |
unknown |
Het |
| Pld2 |
T |
C |
11: 70,446,824 (GRCm39) |
L811P |
probably damaging |
Het |
| Pum2 |
C |
T |
12: 8,778,726 (GRCm39) |
R459* |
probably null |
Het |
| Ralgapa1 |
T |
C |
12: 55,785,101 (GRCm39) |
S720G |
probably damaging |
Het |
| Rbbp6 |
T |
A |
7: 122,587,680 (GRCm39) |
|
probably benign |
Het |
| Rbl1 |
A |
G |
2: 157,038,073 (GRCm39) |
|
probably null |
Het |
| Reln |
G |
T |
5: 22,130,257 (GRCm39) |
R2685S |
probably damaging |
Het |
| Rnf213 |
T |
C |
11: 119,352,928 (GRCm39) |
F3942L |
|
Het |
| Rpusd2 |
T |
C |
2: 118,865,378 (GRCm39) |
V25A |
probably benign |
Het |
| Serpinb9b |
A |
G |
13: 33,213,587 (GRCm39) |
E48G |
probably benign |
Het |
| Skil |
C |
T |
3: 31,167,592 (GRCm39) |
P408L |
probably damaging |
Het |
| Slc17a4 |
A |
G |
13: 24,089,274 (GRCm39) |
W186R |
probably damaging |
Het |
| Syvn1 |
T |
C |
19: 6,097,968 (GRCm39) |
F2S |
probably benign |
Het |
| Tmc6 |
T |
C |
11: 117,665,901 (GRCm39) |
M338V |
possibly damaging |
Het |
| Tnfrsf17 |
A |
T |
16: 11,137,819 (GRCm39) |
R185S |
possibly damaging |
Het |
| Utp20 |
T |
C |
10: 88,583,157 (GRCm39) |
K2732R |
probably damaging |
Het |
| Vmn1r58 |
A |
T |
7: 5,414,080 (GRCm39) |
V50E |
probably damaging |
Het |
| Vmn2r114 |
T |
A |
17: 23,528,836 (GRCm39) |
D422V |
possibly damaging |
Het |
| Vmn2r83 |
A |
T |
10: 79,314,261 (GRCm39) |
I170F |
probably benign |
Het |
| Xdh |
C |
T |
17: 74,225,405 (GRCm39) |
V466I |
probably benign |
Het |
| Xndc1 |
A |
G |
7: 101,720,539 (GRCm39) |
I6V |
possibly damaging |
Het |
| Zbtb38 |
T |
C |
9: 96,567,623 (GRCm39) |
T1154A |
probably benign |
Het |
| Zfp160 |
T |
A |
17: 21,246,867 (GRCm39) |
H472Q |
probably damaging |
Het |
| Zfp438 |
T |
A |
18: 5,213,417 (GRCm39) |
T514S |
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 |
|
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 |
|
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'- CTAGGCTGAGGGTTTGCATC -3'
(R):5'- AAAGCCATACGTCGTCCTCC -3'
Sequencing Primer
(F):5'- GAGGGTTTGCATCCTCATTACCAG -3'
(R):5'- AGCGGGCTTTACTCTGCAAC -3'
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| Posted On |
2021-04-30 |
Incidental Mutation