Incidental Mutation 'R5176:Rusc1'
| ID |
399261 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Rusc1
|
| Ensembl Gene |
ENSMUSG00000041263 |
| Gene Name |
RUN and SH3 domain containing 1 |
| Synonyms |
2210403N08Rik |
| MMRRC Submission |
042756-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R5176 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
3 |
| Chromosomal Location |
88991288-89000618 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 88996389 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Proline
at position 109
(S109P)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000130477
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000052539]
[ENSMUST00000081848]
[ENSMUST00000090929]
[ENSMUST00000166687]
[ENSMUST00000196043]
[ENSMUST00000196223]
[ENSMUST00000196254]
[ENSMUST00000200659]
[ENSMUST00000196709]
|
| AlphaFold |
Q8BG26 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000052539
AA Change: S571P
PolyPhen 2
Score 0.802 (Sensitivity: 0.84; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000056640
Gene: ENSMUSG00000041263
AA Change: S571P
| 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 |
possibly damaging
Transcript: ENSMUST00000090929
AA Change: S708P
PolyPhen 2
Score 0.820 (Sensitivity: 0.84; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000088447
Gene: ENSMUSG00000041263
AA Change: S708P
| 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: S109P
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000130477
Gene: ENSMUSG00000041263
AA Change: S109P
| 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
AA Change: S109P
PolyPhen 2
Score 0.058 (Sensitivity: 0.94; Specificity: 0.84)
|
| SMART Domains |
Protein: ENSMUSP00000143662
Gene: ENSMUSG00000041263
AA Change: S109P
| 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 |
possibly damaging
Transcript: ENSMUST00000200659
AA Change: S542P
PolyPhen 2
Score 0.856 (Sensitivity: 0.83; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000142694
Gene: ENSMUSG00000105204
AA Change: S542P
| 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 |
noncoding transcript
Transcript: ENSMUST00000200357
|
| 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 |
|
| Meta Mutation Damage Score |
0.6467 |
| Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.7%
- 10x: 97.4%
- 20x: 95.6%
|
| Validation Efficiency |
99% (69/70) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 61 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca7 |
C |
A |
10: 79,834,123 (GRCm39) |
H116Q |
probably benign |
Het |
| Akap12 |
G |
T |
10: 4,303,947 (GRCm39) |
E252D |
probably benign |
Het |
| Apobr |
A |
G |
7: 126,184,188 (GRCm39) |
D2G |
probably damaging |
Het |
| Arhgef12 |
A |
T |
9: 42,931,982 (GRCm39) |
H168Q |
probably damaging |
Het |
| Asb3 |
T |
A |
11: 31,031,357 (GRCm39) |
|
probably null |
Het |
| Brip1 |
T |
C |
11: 85,968,710 (GRCm39) |
Y825C |
probably damaging |
Het |
| Cacna1b |
A |
T |
2: 24,525,143 (GRCm39) |
Y1679N |
probably damaging |
Het |
| Ccdc69 |
C |
T |
11: 54,951,296 (GRCm39) |
A42T |
probably benign |
Het |
| Cds1 |
G |
T |
5: 101,929,286 (GRCm39) |
D55Y |
possibly damaging |
Het |
| Cep135 |
C |
A |
5: 76,784,873 (GRCm39) |
D989E |
probably benign |
Het |
| Cpsf6 |
C |
A |
10: 117,197,189 (GRCm39) |
|
probably benign |
Het |
| Ctif |
C |
T |
18: 75,770,290 (GRCm39) |
V32M |
probably damaging |
Het |
| Cylc2 |
T |
C |
4: 51,228,587 (GRCm39) |
|
probably benign |
Het |
| Dao |
T |
C |
5: 114,158,070 (GRCm39) |
|
probably null |
Het |
| Dop1a |
T |
A |
9: 86,403,868 (GRCm39) |
N1689K |
probably damaging |
Het |
| Dop1b |
A |
G |
16: 93,536,931 (GRCm39) |
Y14C |
probably damaging |
Het |
| Fam187a |
C |
T |
11: 102,777,290 (GRCm39) |
R365C |
probably damaging |
Het |
| Fastkd2 |
A |
G |
1: 63,770,598 (GRCm39) |
|
probably benign |
Het |
| Fhip2a |
A |
G |
19: 57,359,613 (GRCm39) |
N51S |
probably damaging |
Het |
| Fkbp15 |
G |
T |
4: 62,230,560 (GRCm39) |
L718I |
possibly damaging |
Het |
| Gabbr2 |
C |
A |
4: 46,681,208 (GRCm39) |
V118F |
probably damaging |
Het |
| Gm13991 |
T |
A |
2: 116,358,508 (GRCm39) |
|
noncoding transcript |
Het |
| H2-M9 |
T |
C |
17: 36,952,523 (GRCm39) |
I174M |
probably damaging |
Het |
| Ift70a2 |
T |
C |
2: 75,807,421 (GRCm39) |
M364V |
probably benign |
Het |
| Insr |
T |
A |
8: 3,208,742 (GRCm39) |
M1240L |
probably benign |
Het |
| Ints15 |
G |
T |
5: 143,300,830 (GRCm39) |
S7* |
probably null |
Het |
| Itgb4 |
C |
T |
11: 115,874,983 (GRCm39) |
R447W |
probably benign |
Het |
| Mad2l1bp |
T |
A |
17: 46,463,738 (GRCm39) |
E95D |
probably benign |
Het |
| Marchf9 |
T |
C |
10: 126,895,319 (GRCm39) |
D102G |
probably benign |
Het |
| Muc19 |
A |
G |
15: 91,776,374 (GRCm39) |
|
noncoding transcript |
Het |
| Nr1h4 |
T |
A |
10: 89,334,117 (GRCm39) |
Y91F |
probably benign |
Het |
| Nr5a2 |
A |
T |
1: 136,876,540 (GRCm39) |
M1K |
probably null |
Het |
| Oprd1 |
T |
C |
4: 131,841,104 (GRCm39) |
T285A |
probably benign |
Het |
| Optc |
T |
C |
1: 133,829,822 (GRCm39) |
N196S |
probably benign |
Het |
| Or51f5 |
T |
A |
7: 102,424,513 (GRCm39) |
S261T |
probably damaging |
Het |
| Or5g29 |
A |
C |
2: 85,421,779 (GRCm39) |
K298N |
possibly damaging |
Het |
| Or7g21 |
A |
T |
9: 19,032,656 (GRCm39) |
Y132F |
probably damaging |
Het |
| Panx2 |
G |
T |
15: 88,944,431 (GRCm39) |
R52L |
probably damaging |
Het |
| Pdzd8 |
A |
G |
19: 59,333,389 (GRCm39) |
F211L |
probably damaging |
Het |
| Pot1b |
T |
A |
17: 56,006,995 (GRCm39) |
T41S |
probably benign |
Het |
| Prss56 |
T |
C |
1: 87,111,880 (GRCm39) |
L37S |
probably damaging |
Het |
| Ptk2b |
T |
C |
14: 66,393,864 (GRCm39) |
T870A |
probably damaging |
Het |
| Rabep2 |
C |
A |
7: 126,033,465 (GRCm39) |
|
probably benign |
Het |
| Rbm48 |
A |
C |
5: 3,645,444 (GRCm39) |
V80G |
probably damaging |
Het |
| Rhou |
G |
T |
8: 124,380,848 (GRCm39) |
C55F |
possibly damaging |
Het |
| Rnaseh2c |
A |
G |
19: 5,652,070 (GRCm39) |
D45G |
probably benign |
Het |
| Ryr3 |
T |
C |
2: 112,588,012 (GRCm39) |
D2643G |
possibly damaging |
Het |
| Septin4 |
T |
A |
11: 87,458,358 (GRCm39) |
M244K |
probably benign |
Het |
| Sik2 |
T |
C |
9: 50,810,703 (GRCm39) |
E471G |
probably benign |
Het |
| Sipa1 |
A |
G |
19: 5,709,406 (GRCm39) |
S310P |
probably damaging |
Het |
| Sp140l1 |
C |
T |
1: 85,066,521 (GRCm39) |
|
probably benign |
Het |
| Spen |
T |
C |
4: 141,203,587 (GRCm39) |
E1680G |
unknown |
Het |
| Steap3 |
C |
T |
1: 120,171,497 (GRCm39) |
|
probably null |
Het |
| Tmeff2 |
T |
A |
1: 51,110,700 (GRCm39) |
C171* |
probably null |
Het |
| Tmem138 |
A |
T |
19: 10,552,634 (GRCm39) |
M33K |
probably benign |
Het |
| Trappc11 |
C |
A |
8: 47,963,998 (GRCm39) |
V601L |
possibly damaging |
Het |
| Ttll4 |
C |
A |
1: 74,718,445 (GRCm39) |
H99N |
probably damaging |
Het |
| Uchl4 |
A |
T |
9: 64,143,022 (GRCm39) |
K168* |
probably null |
Het |
| Wdr17 |
C |
T |
8: 55,106,913 (GRCm39) |
|
probably null |
Het |
| Xpo1 |
A |
G |
11: 23,245,977 (GRCm39) |
D1029G |
probably damaging |
Het |
| Zfp719 |
G |
T |
7: 43,240,549 (GRCm39) |
K712N |
probably 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 |
|
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- GGAGGTCTCTAGAAACAGCTTCC -3'
(R):5'- GCTGTTCCCAGGCTCAATTG -3'
Sequencing Primer
(F):5'- TCTAGAAACAGCTTCCACTACTGTG -3'
(R):5'- CTCAATTGGGGGATAGCCGACTG -3'
|
| Posted On |
2016-07-06 |
Incidental Mutation