Incidental Mutation 'R7756:Shcbp1'
| ID |
597556 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Shcbp1
|
| Ensembl Gene |
ENSMUSG00000022322 |
| Gene Name |
Shc SH2-domain binding protein 1 |
| Synonyms |
mPAL |
| MMRRC Submission |
045812-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R7756 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
8 |
| Chromosomal Location |
4785976-4829549 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 4794545 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Lysine to Arginine
at position 416
(K416R)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000022945
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000022945]
|
| AlphaFold |
Q9Z179 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000022945
AA Change: K416R
PolyPhen 2
Score 0.969 (Sensitivity: 0.77; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000022945
Gene: ENSMUSG00000022322
AA Change: K416R
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
210 |
219 |
N/A |
INTRINSIC |
|
low complexity region
|
262 |
275 |
N/A |
INTRINSIC |
|
PbH1
|
428 |
451 |
8.61e3 |
SMART |
|
PbH1
|
452 |
473 |
2.38e3 |
SMART |
|
PbH1
|
474 |
496 |
9.62e2 |
SMART |
|
PbH1
|
497 |
518 |
1.07e2 |
SMART |
|
PbH1
|
526 |
548 |
1.74e2 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000207876
|
| Meta Mutation Damage Score |
0.1621 |
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.8%
- 20x: 99.3%
|
| Validation Efficiency |
98% (48/49) |
| MGI Phenotype |
PHENOTYPE: Mice homozygous for a knock-out allele exhibit normal viability, fertility and T cell development but show decreased susceptibility to experimental autoimmune encephalomyelitis. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 49 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Ankrd60 |
T |
C |
2: 173,410,562 (GRCm39) |
*319W |
probably null |
Het |
| Bpnt2 |
A |
T |
4: 4,769,385 (GRCm39) |
H243Q |
probably damaging |
Het |
| Brd4 |
A |
G |
17: 32,417,956 (GRCm39) |
I1157T |
unknown |
Het |
| Btbd2 |
T |
C |
10: 80,484,440 (GRCm39) |
I159V |
probably benign |
Het |
| Card6 |
G |
A |
15: 5,129,378 (GRCm39) |
Q673* |
probably null |
Het |
| Cdyl |
T |
A |
13: 36,056,624 (GRCm39) |
Y585N |
probably damaging |
Het |
| Cep192 |
A |
C |
18: 67,989,384 (GRCm39) |
I1844L |
possibly damaging |
Het |
| Cfap99 |
G |
T |
5: 34,459,952 (GRCm39) |
C105F |
probably damaging |
Het |
| Clcn6 |
T |
C |
4: 148,113,896 (GRCm39) |
D54G |
probably damaging |
Het |
| Dennd5a |
T |
C |
7: 109,520,714 (GRCm39) |
N381S |
possibly damaging |
Het |
| Disp1 |
A |
C |
1: 182,871,298 (GRCm39) |
V374G |
probably damaging |
Het |
| Dock4 |
C |
T |
12: 40,760,878 (GRCm39) |
T522I |
probably benign |
Het |
| Fcer1a |
A |
G |
1: 173,049,142 (GRCm39) |
L223P |
probably damaging |
Het |
| Fstl4 |
C |
A |
11: 53,059,123 (GRCm39) |
D527E |
possibly damaging |
Het |
| Gm21886 |
ACTCACTGAGGCCTGCAGACAGTAGGTGCTCACTGAGGCCTGCAGACAGTAGGTGCTCACTGAGGCCTGCAGACAGTAGGTGCTCACTGAGACCTGCAGACAGTAGGTGCTCACTGAGACCTGCAGACAGTAGGTGCTCACTGAGG |
ACTCACTGAGGCCTGCAGACAGTAGGTGCTCACTGAGGCCTGCAGACAGTAGGTGCTCACTGAGACCTGCAGACAGTAGGTGCTCACTGAGACCTGCAGACAGTAGGTGCTCACTGAGG |
18: 80,133,040 (GRCm39) |
|
probably benign |
Het |
| Gm5460 |
A |
T |
14: 33,757,114 (GRCm39) |
T64S |
probably benign |
Het |
| Gys1 |
T |
C |
7: 45,097,726 (GRCm39) |
V491A |
probably benign |
Het |
| Hoxa9 |
A |
T |
6: 52,202,542 (GRCm39) |
N181K |
probably benign |
Het |
| Ift81 |
A |
T |
5: 122,689,088 (GRCm39) |
L676H |
probably damaging |
Het |
| Inava |
A |
G |
1: 136,144,171 (GRCm39) |
S422P |
probably benign |
Het |
| Itga1 |
T |
A |
13: 115,128,996 (GRCm39) |
D554V |
probably benign |
Het |
| Lin7c |
T |
A |
2: 109,726,717 (GRCm39) |
I122K |
probably damaging |
Het |
| Malt1 |
A |
G |
18: 65,606,190 (GRCm39) |
I622V |
probably benign |
Het |
| Megf8 |
T |
C |
7: 25,041,850 (GRCm39) |
|
probably null |
Het |
| Morc2b |
A |
G |
17: 33,355,981 (GRCm39) |
V597A |
probably damaging |
Het |
| Nr1h5 |
T |
C |
3: 102,856,925 (GRCm39) |
I196V |
probably benign |
Het |
| Or10d4 |
T |
C |
9: 39,580,371 (GRCm39) |
M6T |
probably benign |
Het |
| Or2a20 |
T |
A |
6: 43,193,950 (GRCm39) |
Y34* |
probably null |
Het |
| Or8g2 |
T |
G |
9: 39,821,621 (GRCm39) |
I174S |
possibly damaging |
Het |
| Pdlim1 |
G |
A |
19: 40,231,986 (GRCm39) |
P131S |
probably benign |
Het |
| Plekhh1 |
T |
C |
12: 79,117,578 (GRCm39) |
I858T |
probably benign |
Het |
| Pls1 |
T |
C |
9: 95,658,897 (GRCm39) |
N197S |
probably benign |
Het |
| Pnma8a |
A |
T |
7: 16,695,224 (GRCm39) |
T360S |
probably benign |
Het |
| Pon1 |
A |
T |
6: 5,168,344 (GRCm39) |
D354E |
probably benign |
Het |
| Rbp3 |
G |
A |
14: 33,676,732 (GRCm39) |
V227M |
probably benign |
Het |
| Slc20a2 |
T |
G |
8: 23,025,508 (GRCm39) |
I70S |
probably damaging |
Het |
| Slc7a11 |
A |
G |
3: 50,326,809 (GRCm39) |
I484T |
probably benign |
Het |
| Snrpa |
A |
G |
7: 26,892,371 (GRCm39) |
V63A |
possibly damaging |
Het |
| Stat2 |
CGCTGGAGCCAGCCCCACAAGTCCTGCTGGAGCCAGCCCCACAAGTCCTGCTGGAGCCAGCCCCACAAGTCCTGCTGGAGCCAGCCCCACAAGTCCTGCTGGAGCCAGCCCCACAAGTCCAGCTGGAGCCAGCCCCACAAGTCCTGCTGGAGCTAGCCCCACAAGTCCTGCTGGAGCCAGCCCCACAAGTCCTGCTGGAGCTAGCCCCACAAGTCCAGCTGGAGCCAGC |
CGCTGGAGCCAGCCCCACAAGTCCTGCTGGAGCCAGCCCCACAAGTCCTGCTGGAGCCAGCCCCACAAGTCCTGCTGGAGCCAGCCCCACAAGTCCAGCTGGAGCCAGCCCCACAAGTCCTGCTGGAGCTAGCCCCACAAGTCCTGCTGGAGCCAGCCCCACAAGTCCTGCTGGAGCTAGCCCCACAAGTCCAGCTGGAGCCAGC |
10: 128,126,597 (GRCm39) |
|
probably benign |
Het |
| Strc |
T |
C |
2: 121,201,427 (GRCm39) |
E1259G |
probably benign |
Het |
| Suds3 |
T |
G |
5: 117,253,802 (GRCm39) |
D26A |
unknown |
Het |
| Tnrc18 |
A |
G |
5: 142,772,907 (GRCm39) |
S641P |
|
Het |
| Tspan32 |
A |
G |
7: 142,570,959 (GRCm39) |
N189D |
probably benign |
Het |
| Unc13b |
CGAGCCAGAGCCAGAGCCAGAGCCAGAGCCAGAGCCAGAGCCAGAGCCAGAGCCAGAGCCAGAGCCAGAGCCAGAGCCAGAGCCAGAGC |
CGAGCCAGAGCCAGAGCCAGAGCCAGAGCCAGAGCCAGAGCCAGAGCCAGAGCCAGAGCCAGAGCCAGAGCCAGAGCCAGAGC |
4: 43,177,312 (GRCm39) |
|
probably benign |
Het |
| Usp40 |
G |
T |
1: 87,894,922 (GRCm39) |
T866K |
probably damaging |
Het |
| Vmn1r220 |
G |
A |
13: 23,367,877 (GRCm39) |
T273I |
probably benign |
Het |
| Yes1 |
C |
T |
5: 32,842,024 (GRCm39) |
T516I |
probably damaging |
Het |
| Zbtb4 |
A |
G |
11: 69,669,368 (GRCm39) |
E697G |
probably benign |
Het |
| Zfp994 |
T |
C |
17: 22,419,828 (GRCm39) |
T374A |
possibly damaging |
Het |
|
| Other mutations in Shcbp1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00094:Shcbp1
|
APN |
8 |
4,804,258 (GRCm39) |
nonsense |
probably null |
|
|
IGL01330:Shcbp1
|
APN |
8 |
4,786,372 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL01878:Shcbp1
|
APN |
8 |
4,799,721 (GRCm39) |
missense |
probably damaging |
0.98 |
|
IGL02415:Shcbp1
|
APN |
8 |
4,804,239 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
IGL02559:Shcbp1
|
APN |
8 |
4,799,305 (GRCm39) |
missense |
probably damaging |
0.98 |
|
IGL03171:Shcbp1
|
APN |
8 |
4,789,166 (GRCm39) |
missense |
probably benign |
0.05 |
|
IGL03348:Shcbp1
|
APN |
8 |
4,815,089 (GRCm39) |
missense |
probably benign |
0.10 |
|
R0102:Shcbp1
|
UTSW |
8 |
4,794,452 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0102:Shcbp1
|
UTSW |
8 |
4,794,452 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0729:Shcbp1
|
UTSW |
8 |
4,786,297 (GRCm39) |
missense |
probably benign |
0.05 |
|
R0743:Shcbp1
|
UTSW |
8 |
4,814,906 (GRCm39) |
missense |
probably benign |
|
|
R1413:Shcbp1
|
UTSW |
8 |
4,791,968 (GRCm39) |
critical splice acceptor site |
probably null |
|
|
R1630:Shcbp1
|
UTSW |
8 |
4,798,763 (GRCm39) |
nonsense |
probably null |
|
|
R1645:Shcbp1
|
UTSW |
8 |
4,799,645 (GRCm39) |
missense |
probably benign |
0.00 |
|
R3778:Shcbp1
|
UTSW |
8 |
4,786,295 (GRCm39) |
missense |
probably benign |
0.01 |
|
R4066:Shcbp1
|
UTSW |
8 |
4,798,716 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R4232:Shcbp1
|
UTSW |
8 |
4,786,372 (GRCm39) |
missense |
probably benign |
0.06 |
|
R4524:Shcbp1
|
UTSW |
8 |
4,789,193 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4552:Shcbp1
|
UTSW |
8 |
4,799,779 (GRCm39) |
nonsense |
probably null |
|
|
R4623:Shcbp1
|
UTSW |
8 |
4,789,178 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4748:Shcbp1
|
UTSW |
8 |
4,794,512 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5093:Shcbp1
|
UTSW |
8 |
4,789,214 (GRCm39) |
missense |
possibly damaging |
0.68 |
|
R5152:Shcbp1
|
UTSW |
8 |
4,786,138 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5540:Shcbp1
|
UTSW |
8 |
4,794,529 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5758:Shcbp1
|
UTSW |
8 |
4,799,355 (GRCm39) |
splice site |
probably null |
|
|
R5878:Shcbp1
|
UTSW |
8 |
4,798,742 (GRCm39) |
missense |
probably benign |
0.04 |
|
R6062:Shcbp1
|
UTSW |
8 |
4,814,905 (GRCm39) |
missense |
probably benign |
0.13 |
|
R6366:Shcbp1
|
UTSW |
8 |
4,799,380 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6394:Shcbp1
|
UTSW |
8 |
4,786,176 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R6513:Shcbp1
|
UTSW |
8 |
4,794,507 (GRCm39) |
missense |
probably benign |
|
|
R6696:Shcbp1
|
UTSW |
8 |
4,789,262 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7014:Shcbp1
|
UTSW |
8 |
4,804,234 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7334:Shcbp1
|
UTSW |
8 |
4,804,310 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7334:Shcbp1
|
UTSW |
8 |
4,791,876 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7420:Shcbp1
|
UTSW |
8 |
4,798,737 (GRCm39) |
missense |
probably benign |
0.02 |
|
R7710:Shcbp1
|
UTSW |
8 |
4,814,965 (GRCm39) |
missense |
probably benign |
0.14 |
|
R7720:Shcbp1
|
UTSW |
8 |
4,798,720 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7769:Shcbp1
|
UTSW |
8 |
4,789,232 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7943:Shcbp1
|
UTSW |
8 |
4,798,812 (GRCm39) |
missense |
possibly damaging |
0.78 |
|
R8114:Shcbp1
|
UTSW |
8 |
4,817,930 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8386:Shcbp1
|
UTSW |
8 |
4,817,951 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8435:Shcbp1
|
UTSW |
8 |
4,798,734 (GRCm39) |
missense |
probably benign |
0.04 |
|
R9234:Shcbp1
|
UTSW |
8 |
4,798,800 (GRCm39) |
missense |
possibly damaging |
0.77 |
|
R9313:Shcbp1
|
UTSW |
8 |
4,794,518 (GRCm39) |
missense |
probably damaging |
1.00 |
|
X0062:Shcbp1
|
UTSW |
8 |
4,789,249 (GRCm39) |
missense |
probably damaging |
0.99 |
|
Z1176:Shcbp1
|
UTSW |
8 |
4,815,056 (GRCm39) |
missense |
possibly damaging |
0.59 |
|
Z1177:Shcbp1
|
UTSW |
8 |
4,786,146 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- TTAACTTTCATGCACAGTCGAC -3'
(R):5'- TAGTGCTCCCTCTGACCATG -3'
Sequencing Primer
(F):5'- ATGCACAGTCGACTTTTCTCTCAAAG -3'
(R):5'- GTGGACCTAGGCTACTCTACTCAG -3'
|
| Posted On |
2019-11-26 |
Incidental Mutation