Incidental Mutation 'R4066:Shcbp1'
ID |
316118 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Shcbp1
|
Ensembl Gene |
ENSMUSG00000022322 |
Gene Name |
Shc SH2-domain binding protein 1 |
Synonyms |
mPAL |
MMRRC Submission |
040973-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R4066 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
8 |
Chromosomal Location |
4785976-4829549 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 4798716 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Isoleucine to Threonine
at position 401
(I401T)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000022945
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000022945]
|
AlphaFold |
Q9Z179 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000022945
AA Change: I401T
PolyPhen 2
Score 0.981 (Sensitivity: 0.75; Specificity: 0.96)
|
SMART Domains |
Protein: ENSMUSP00000022945 Gene: ENSMUSG00000022322 AA Change: I401T
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: ENSMUST00000207262
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000207665
|
Predicted Effect |
unknown
Transcript: ENSMUST00000207876
AA Change: I134T
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000208856
|
Meta Mutation Damage Score |
0.3542 |
Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.4%
- 20x: 95.5%
|
Validation Efficiency |
96% (50/52) |
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: 45 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Adam23 |
A |
T |
1: 63,602,584 (GRCm39) |
H582L |
probably damaging |
Het |
Ankrd13d |
C |
T |
19: 4,320,388 (GRCm39) |
A118T |
probably benign |
Het |
Arhgap30 |
C |
T |
1: 171,235,891 (GRCm39) |
T755I |
probably benign |
Het |
Cab39l |
A |
G |
14: 59,784,454 (GRCm39) |
H285R |
probably benign |
Het |
Dpyd |
AAT |
AATGTATATATAT |
3: 118,690,738 (GRCm39) |
|
probably benign |
Het |
Dspp |
T |
A |
5: 104,325,060 (GRCm39) |
N474K |
unknown |
Het |
Fanci |
T |
C |
7: 79,062,505 (GRCm39) |
|
probably null |
Het |
Fras1 |
T |
A |
5: 96,918,542 (GRCm39) |
I3526K |
possibly damaging |
Het |
Fut8 |
T |
A |
12: 77,510,835 (GRCm39) |
Y421N |
probably damaging |
Het |
Gm12258 |
C |
T |
11: 58,749,352 (GRCm39) |
L176F |
probably benign |
Het |
Gm8220 |
A |
T |
14: 44,523,095 (GRCm39) |
R12* |
probably null |
Het |
Hecw1 |
T |
C |
13: 14,491,016 (GRCm39) |
S659G |
probably damaging |
Het |
Hnrnpr |
C |
A |
4: 136,066,657 (GRCm39) |
|
probably benign |
Het |
Htt |
C |
T |
5: 35,036,191 (GRCm39) |
T2046I |
probably benign |
Het |
Kat7 |
T |
C |
11: 95,174,967 (GRCm39) |
D259G |
possibly damaging |
Het |
Klra9 |
T |
C |
6: 130,165,707 (GRCm39) |
T103A |
probably benign |
Het |
Lad1 |
A |
G |
1: 135,755,165 (GRCm39) |
E147G |
probably damaging |
Het |
Lipo2 |
T |
C |
19: 33,698,259 (GRCm39) |
I373V |
probably benign |
Het |
Ltb4r1 |
G |
T |
14: 56,004,952 (GRCm39) |
W85L |
probably damaging |
Het |
Ltn1 |
T |
C |
16: 87,213,118 (GRCm39) |
Y481C |
possibly damaging |
Het |
Man1c1 |
G |
C |
4: 134,430,749 (GRCm39) |
P11R |
probably damaging |
Het |
Muc4 |
A |
T |
16: 32,569,869 (GRCm39) |
I310F |
possibly damaging |
Het |
Myl10 |
A |
G |
5: 136,724,304 (GRCm39) |
K70E |
probably damaging |
Het |
Nptx2 |
G |
T |
5: 144,493,122 (GRCm39) |
W403L |
probably damaging |
Het |
Nyap2 |
A |
G |
1: 81,219,550 (GRCm39) |
Y524C |
probably damaging |
Het |
Or4a72 |
T |
A |
2: 89,405,523 (GRCm39) |
L182F |
probably damaging |
Het |
Or6b2b |
A |
G |
1: 92,418,911 (GRCm39) |
C189R |
probably damaging |
Het |
Or8b1 |
T |
A |
9: 38,399,778 (GRCm39) |
M151K |
probably benign |
Het |
Pde9a |
A |
G |
17: 31,662,812 (GRCm39) |
*64W |
probably null |
Het |
Ppp2r5b |
T |
C |
19: 6,279,360 (GRCm39) |
Y379C |
probably damaging |
Het |
Rd3l |
T |
G |
12: 111,945,945 (GRCm39) |
N178T |
probably benign |
Het |
Recql4 |
A |
G |
15: 76,590,027 (GRCm39) |
Y673H |
probably damaging |
Het |
Rnps1-ps |
T |
A |
6: 7,983,009 (GRCm39) |
|
noncoding transcript |
Het |
Shd |
A |
T |
17: 56,278,581 (GRCm39) |
D48V |
probably damaging |
Het |
Slc14a1 |
A |
G |
18: 78,154,592 (GRCm39) |
W209R |
probably damaging |
Het |
Slc2a9 |
T |
C |
5: 38,640,692 (GRCm39) |
K6E |
probably benign |
Het |
Slco6d1 |
A |
G |
1: 98,391,571 (GRCm39) |
|
probably benign |
Het |
Spic |
T |
C |
10: 88,511,545 (GRCm39) |
H237R |
possibly damaging |
Het |
Stau2 |
A |
G |
1: 16,464,283 (GRCm39) |
S156P |
possibly damaging |
Het |
Stmn2 |
T |
C |
3: 8,574,668 (GRCm39) |
|
probably benign |
Het |
Togaram2 |
C |
A |
17: 72,023,233 (GRCm39) |
|
probably benign |
Het |
Trpc5 |
T |
A |
X: 143,202,594 (GRCm39) |
R545* |
probably null |
Het |
Ugcg |
C |
T |
4: 59,207,798 (GRCm39) |
P46S |
probably benign |
Het |
Wdfy3 |
C |
T |
5: 102,070,313 (GRCm39) |
V1152I |
probably benign |
Het |
Xpo4 |
G |
T |
14: 57,825,511 (GRCm39) |
H939N |
probably benign |
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 |
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 |
|
Predicted Primers |
PCR Primer
(F):5'- TGGGGATCAAAGGTTCGACAC -3'
(R):5'- GTGACAAGCACACAACTGAG -3'
Sequencing Primer
(F):5'- TCAAAGGTTCGACACTTATAGGG -3'
(R):5'- CTGGAACTCACTTTGTAGACCAGG -3'
|
Posted On |
2015-05-15 |