Incidental Mutation 'IGL01330:Shcbp1'
| ID |
74481 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Shcbp1
|
| Ensembl Gene |
ENSMUSG00000022322 |
| Gene Name |
Shc SH2-domain binding protein 1 |
| Synonyms |
mPAL |
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
IGL01330
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
8 |
| Chromosomal Location |
4785976-4829549 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 4786372 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Alanine
at position 577
(T577A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000022945
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000022945]
|
| AlphaFold |
Q9Z179 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000022945
AA Change: T577A
PolyPhen 2
Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
|
| SMART Domains |
Protein: ENSMUSP00000022945
Gene: ENSMUSG00000022322
AA Change: T577A
| 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
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| 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: 44 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| A1cf |
A |
G |
19: 31,898,351 (GRCm39) |
E245G |
possibly damaging |
Het |
| Acap2 |
T |
C |
16: 30,973,495 (GRCm39) |
I43V |
probably damaging |
Het |
| Acot11 |
T |
C |
4: 106,628,681 (GRCm39) |
T36A |
probably benign |
Het |
| Bsn |
A |
G |
9: 107,988,112 (GRCm39) |
|
probably benign |
Het |
| Capza2 |
T |
C |
6: 17,654,170 (GRCm39) |
|
probably null |
Het |
| Cerkl |
A |
G |
2: 79,199,125 (GRCm39) |
I155T |
possibly damaging |
Het |
| Dclre1b |
T |
C |
3: 103,710,442 (GRCm39) |
T490A |
probably benign |
Het |
| Efcab6 |
G |
A |
15: 83,928,501 (GRCm39) |
S31L |
probably benign |
Het |
| Faim |
T |
A |
9: 98,874,588 (GRCm39) |
M67K |
probably damaging |
Het |
| Frem2 |
T |
G |
3: 53,562,662 (GRCm39) |
Q615P |
possibly damaging |
Het |
| Fut9 |
A |
G |
4: 25,619,791 (GRCm39) |
V341A |
possibly damaging |
Het |
| Grhpr |
T |
C |
4: 44,986,375 (GRCm39) |
F142L |
probably benign |
Het |
| Kif14 |
T |
C |
1: 136,404,112 (GRCm39) |
V532A |
probably damaging |
Het |
| Klk1b9 |
T |
A |
7: 43,627,867 (GRCm39) |
L55* |
probably null |
Het |
| Kmt2e |
C |
A |
5: 23,702,946 (GRCm39) |
P1042Q |
possibly damaging |
Het |
| Mpped1 |
T |
A |
15: 83,684,320 (GRCm39) |
I114N |
probably damaging |
Het |
| Mtap |
C |
A |
4: 89,089,460 (GRCm39) |
T148K |
probably damaging |
Het |
| Muc16 |
G |
A |
9: 18,419,803 (GRCm39) |
A8347V |
possibly damaging |
Het |
| Nhs |
A |
T |
X: 160,624,449 (GRCm39) |
S967T |
probably damaging |
Het |
| Npas3 |
A |
G |
12: 54,095,602 (GRCm39) |
Y344C |
probably damaging |
Het |
| Or51q1 |
A |
T |
7: 103,629,349 (GRCm39) |
|
probably benign |
Het |
| Or5an9 |
T |
C |
19: 12,187,404 (GRCm39) |
V158A |
possibly damaging |
Het |
| Or8b12c |
T |
A |
9: 37,715,516 (GRCm39) |
F103Y |
probably damaging |
Het |
| Osmr |
A |
G |
15: 6,871,509 (GRCm39) |
Y303H |
probably damaging |
Het |
| Pcdhb8 |
A |
T |
18: 37,490,631 (GRCm39) |
I770F |
probably benign |
Het |
| Pde4a |
C |
T |
9: 21,103,734 (GRCm39) |
|
probably benign |
Het |
| Prkacb |
T |
G |
3: 146,457,266 (GRCm39) |
N79T |
probably damaging |
Het |
| Psd3 |
A |
C |
8: 68,149,830 (GRCm39) |
Y1222D |
probably damaging |
Het |
| Rrbp1 |
T |
A |
2: 143,810,538 (GRCm39) |
E847D |
possibly damaging |
Het |
| Sbno1 |
A |
T |
5: 124,530,042 (GRCm39) |
D912E |
probably damaging |
Het |
| Sgsm3 |
T |
A |
15: 80,895,053 (GRCm39) |
|
probably benign |
Het |
| Siglec1 |
A |
T |
2: 130,925,456 (GRCm39) |
V335D |
probably damaging |
Het |
| Siglec1 |
A |
T |
2: 130,916,925 (GRCm39) |
L1110* |
probably null |
Het |
| Slc4a11 |
A |
G |
2: 130,529,602 (GRCm39) |
I335T |
probably benign |
Het |
| Smchd1 |
A |
C |
17: 71,743,783 (GRCm39) |
S461A |
probably benign |
Het |
| Spata16 |
C |
T |
3: 26,968,864 (GRCm39) |
P415S |
probably damaging |
Het |
| Tdrd12 |
G |
A |
7: 35,204,459 (GRCm39) |
S217L |
possibly damaging |
Het |
| Tmem156 |
C |
T |
5: 65,237,525 (GRCm39) |
R45H |
probably benign |
Het |
| Vmn2r90 |
T |
C |
17: 17,953,542 (GRCm39) |
S569P |
probably benign |
Het |
| Vps13c |
T |
A |
9: 67,871,390 (GRCm39) |
V3220E |
probably damaging |
Het |
| Wdr59 |
T |
C |
8: 112,208,565 (GRCm39) |
N439S |
possibly damaging |
Het |
| Zfp568 |
A |
G |
7: 29,721,702 (GRCm39) |
M215V |
probably benign |
Het |
| Zgrf1 |
T |
A |
3: 127,377,656 (GRCm39) |
V967E |
probably damaging |
Het |
| Zkscan16 |
A |
G |
4: 58,956,483 (GRCm39) |
D255G |
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 |
|
|
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 |
|
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 |
|
| Posted On |
2013-10-07 |
Incidental Mutation