Incidental Mutation 'R4524:Shcbp1'
| ID |
334366 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Shcbp1
|
| Ensembl Gene |
ENSMUSG00000022322 |
| Gene Name |
Shc SH2-domain binding protein 1 |
| Synonyms |
mPAL |
| MMRRC Submission |
041766-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R4524 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
8 |
| Chromosomal Location |
4785976-4829549 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 4789193 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Tyrosine to Cysteine
at position 542
(Y542C)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000022945
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000022945]
|
| AlphaFold |
Q9Z179 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000022945
AA Change: Y542C
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000022945
Gene: ENSMUSG00000022322
AA Change: Y542C
| 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 |
noncoding transcript
Transcript: ENSMUST00000207665
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000207876
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000208856
|
| Meta Mutation Damage Score |
0.9318 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.2%
- 20x: 95.1%
|
| Validation Efficiency |
97% (58/60) |
| 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 |
|---|
| Abca12 |
T |
C |
1: 71,342,076 (GRCm39) |
S962G |
probably benign |
Het |
| Ackr2 |
T |
C |
9: 121,738,609 (GRCm39) |
V328A |
probably benign |
Het |
| Ang4 |
G |
T |
14: 52,001,605 (GRCm39) |
C114* |
probably null |
Het |
| Arid1b |
A |
T |
17: 5,147,895 (GRCm39) |
Q599L |
possibly damaging |
Het |
| Ascc3 |
A |
G |
10: 50,536,766 (GRCm39) |
N700D |
probably benign |
Het |
| Atrnl1 |
A |
G |
19: 57,618,738 (GRCm39) |
D152G |
probably damaging |
Het |
| Birc6 |
C |
T |
17: 74,948,772 (GRCm39) |
T3067I |
probably damaging |
Het |
| Bmpr2 |
T |
C |
1: 59,906,571 (GRCm39) |
S555P |
probably benign |
Het |
| Brox |
A |
T |
1: 183,074,045 (GRCm39) |
L68I |
possibly damaging |
Het |
| C130026L21Rik |
A |
G |
5: 111,733,738 (GRCm39) |
|
noncoding transcript |
Het |
| Cavin2 |
T |
C |
1: 51,340,229 (GRCm39) |
V302A |
probably benign |
Het |
| Cbln3 |
A |
T |
14: 56,121,522 (GRCm39) |
C41* |
probably null |
Het |
| Ccdc88c |
G |
T |
12: 100,879,591 (GRCm39) |
S1843R |
possibly damaging |
Het |
| Clec4a2 |
T |
A |
6: 123,102,043 (GRCm39) |
I66N |
probably damaging |
Het |
| Cybc1 |
A |
G |
11: 121,114,934 (GRCm39) |
|
probably benign |
Het |
| Ddx27 |
T |
A |
2: 166,869,640 (GRCm39) |
C358* |
probably null |
Het |
| Ehbp1 |
A |
T |
11: 22,101,843 (GRCm39) |
D228E |
probably damaging |
Het |
| Emc7 |
T |
C |
2: 112,285,609 (GRCm39) |
V66A |
probably damaging |
Het |
| Fbxo41 |
A |
G |
6: 85,461,024 (GRCm39) |
I228T |
probably damaging |
Het |
| Furin |
T |
C |
7: 80,048,382 (GRCm39) |
|
probably null |
Het |
| Gm3739 |
T |
A |
14: 18,505,267 (GRCm39) |
K86* |
probably null |
Het |
| Gmpr |
A |
T |
13: 45,683,215 (GRCm39) |
E162V |
probably damaging |
Het |
| Gtpbp4 |
A |
T |
13: 9,024,330 (GRCm39) |
V541D |
probably benign |
Het |
| Myh2 |
G |
T |
11: 67,067,096 (GRCm39) |
G184W |
probably damaging |
Het |
| Nop2 |
G |
T |
6: 125,110,515 (GRCm39) |
R47L |
probably damaging |
Het |
| Nrg4 |
T |
G |
9: 55,135,186 (GRCm39) |
|
probably benign |
Het |
| Ntng1 |
A |
G |
3: 109,842,312 (GRCm39) |
S154P |
probably damaging |
Het |
| Or14a257 |
G |
T |
7: 86,138,034 (GRCm39) |
H242N |
probably damaging |
Het |
| Or8b12 |
T |
C |
9: 37,658,162 (GRCm39) |
L244S |
possibly damaging |
Het |
| Pde7a |
T |
A |
3: 19,285,140 (GRCm39) |
H349L |
possibly damaging |
Het |
| Pds5b |
A |
T |
5: 150,711,781 (GRCm39) |
D913V |
probably damaging |
Het |
| Plce1 |
T |
C |
19: 38,512,763 (GRCm39) |
S21P |
possibly damaging |
Het |
| Ralgapb |
C |
A |
2: 158,279,226 (GRCm39) |
T104N |
probably benign |
Het |
| Rapgef1 |
A |
G |
2: 29,569,258 (GRCm39) |
I59V |
probably benign |
Het |
| Rpl10l |
T |
C |
12: 66,330,512 (GRCm39) |
D207G |
probably benign |
Het |
| Rsph6a |
C |
T |
7: 18,799,970 (GRCm39) |
H534Y |
probably damaging |
Het |
| Rufy4 |
T |
C |
1: 74,186,822 (GRCm39) |
C537R |
probably damaging |
Het |
| Shisa8 |
C |
G |
15: 82,096,163 (GRCm39) |
V151L |
possibly damaging |
Het |
| Slc7a8 |
G |
A |
14: 54,975,059 (GRCm39) |
T190I |
probably damaging |
Het |
| Spire2 |
T |
A |
8: 124,086,974 (GRCm39) |
S382T |
probably benign |
Het |
| Stard9 |
A |
G |
2: 120,526,926 (GRCm39) |
D1061G |
probably damaging |
Het |
| Tex44 |
T |
G |
1: 86,355,298 (GRCm39) |
D402E |
probably benign |
Het |
| Thbs1 |
G |
T |
2: 117,953,460 (GRCm39) |
R959L |
probably damaging |
Het |
| Tiam2 |
A |
G |
17: 3,564,986 (GRCm39) |
D1408G |
probably damaging |
Het |
| Trrap |
C |
T |
5: 144,762,131 (GRCm39) |
T2352I |
probably benign |
Het |
| Tspyl5 |
T |
A |
15: 33,687,738 (GRCm39) |
E69V |
probably damaging |
Het |
| Ubqlnl |
C |
T |
7: 103,798,925 (GRCm39) |
V191M |
probably benign |
Het |
| Washc1 |
C |
T |
17: 66,426,087 (GRCm39) |
Q462* |
probably null |
Het |
| Xdh |
C |
A |
17: 74,205,339 (GRCm39) |
G1042V |
probably 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 |
|
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 |
|
R7756:Shcbp1
|
UTSW |
8 |
4,794,545 (GRCm39) |
missense |
probably damaging |
0.97 |
|
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'- AGTCCTCATCAGAATTTGGTGC -3'
(R):5'- TGCAAGGAAGGAATTCTCATTAAGG -3'
Sequencing Primer
(F):5'- CATCAGAATTTGGTGCTGAAATAGAG -3'
(R):5'- CATTAAGGTAGGTATTGGCTGAAAC -3'
|
| Posted On |
2015-08-18 |
Incidental Mutation