Incidental Mutation 'R1630:Shcbp1'
| ID |
172736 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Shcbp1
|
| Ensembl Gene |
ENSMUSG00000022322 |
| Gene Name |
Shc SH2-domain binding protein 1 |
| Synonyms |
mPAL |
| MMRRC Submission |
039667-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R1630 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
8 |
| Chromosomal Location |
4785976-4829549 bp(-) (GRCm39) |
| Type of Mutation |
nonsense |
| DNA Base Change (assembly) |
A to T
at 4798763 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Cysteine to Stop codon
at position 118
(C118*)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000022945]
|
| AlphaFold |
Q9Z179 |
| Predicted Effect |
probably null
Transcript: ENSMUST00000022945
AA Change: C385*
|
| SMART Domains |
Protein: ENSMUSP00000022945
Gene: ENSMUSG00000022322
AA Change: C385*
| 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 |
probably null
Transcript: ENSMUST00000207876
AA Change: C118*
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000208856
|
| Meta Mutation Damage Score |
0.9755 |
| Coding Region Coverage |
- 1x: 99.0%
- 3x: 98.1%
- 10x: 95.6%
- 20x: 90.1%
|
| Validation Efficiency |
100% (67/67) |
| 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: 60 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4931429P17Rik |
C |
A |
13: 48,114,201 (GRCm39) |
|
noncoding transcript |
Het |
| 9930012K11Rik |
T |
C |
14: 70,394,629 (GRCm39) |
E175G |
probably benign |
Het |
| A630091E08Rik |
A |
G |
7: 98,192,814 (GRCm39) |
|
noncoding transcript |
Het |
| Atm |
A |
T |
9: 53,390,973 (GRCm39) |
L1867Q |
probably damaging |
Het |
| Atp5f1a |
A |
G |
18: 77,865,267 (GRCm39) |
D63G |
possibly damaging |
Het |
| Baz2b |
A |
T |
2: 59,836,474 (GRCm39) |
S20T |
unknown |
Het |
| C1qtnf7 |
G |
A |
5: 43,766,503 (GRCm39) |
C34Y |
possibly damaging |
Het |
| Cactin |
A |
G |
10: 81,159,559 (GRCm39) |
T353A |
probably benign |
Het |
| Cdyl |
A |
G |
13: 35,867,786 (GRCm39) |
K21E |
possibly damaging |
Het |
| Crispld1 |
A |
G |
1: 17,799,022 (GRCm39) |
T48A |
probably benign |
Het |
| Csmd3 |
T |
A |
15: 47,701,918 (GRCm39) |
T1722S |
possibly damaging |
Het |
| Dapk1 |
A |
T |
13: 60,877,345 (GRCm39) |
E528V |
probably damaging |
Het |
| Dennd4a |
A |
G |
9: 64,779,164 (GRCm39) |
D549G |
probably benign |
Het |
| Dnajc5b |
C |
A |
3: 19,628,905 (GRCm39) |
N66K |
probably damaging |
Het |
| Dusp16 |
G |
T |
6: 134,697,524 (GRCm39) |
R250S |
probably damaging |
Het |
| F10 |
A |
G |
8: 13,105,551 (GRCm39) |
N384S |
probably benign |
Het |
| Gabrr2 |
A |
G |
4: 33,085,647 (GRCm39) |
S331G |
probably damaging |
Het |
| Gm12185 |
A |
C |
11: 48,798,717 (GRCm39) |
I592S |
probably benign |
Het |
| Gm9755 |
T |
C |
8: 67,967,312 (GRCm39) |
|
noncoding transcript |
Het |
| Hspg2 |
T |
C |
4: 137,245,746 (GRCm39) |
L913P |
probably damaging |
Het |
| Ifna1 |
T |
A |
4: 88,768,566 (GRCm39) |
S81R |
probably benign |
Het |
| Iqgap2 |
T |
C |
13: 95,826,293 (GRCm39) |
K510E |
probably benign |
Het |
| Kirrel1 |
C |
T |
3: 86,996,458 (GRCm39) |
M380I |
probably null |
Het |
| Lhx6 |
A |
G |
2: 35,992,913 (GRCm39) |
Y140H |
probably damaging |
Het |
| Lix1 |
A |
G |
17: 17,677,420 (GRCm39) |
H205R |
probably damaging |
Het |
| Masp2 |
A |
T |
4: 148,698,490 (GRCm39) |
T524S |
probably benign |
Het |
| Mndal |
A |
C |
1: 173,701,958 (GRCm39) |
F115V |
possibly damaging |
Het |
| Morc3 |
C |
A |
16: 93,663,421 (GRCm39) |
N541K |
probably benign |
Het |
| Mslnl |
G |
A |
17: 25,961,908 (GRCm39) |
V128M |
probably damaging |
Het |
| Myocd |
A |
G |
11: 65,087,220 (GRCm39) |
S236P |
probably benign |
Het |
| Nes |
T |
A |
3: 87,884,984 (GRCm39) |
V1037E |
probably benign |
Het |
| Nfkbil1 |
A |
G |
17: 35,440,140 (GRCm39) |
W178R |
probably damaging |
Het |
| Nobox |
A |
T |
6: 43,284,146 (GRCm39) |
C8* |
probably null |
Het |
| Nwd1 |
A |
G |
8: 73,393,657 (GRCm39) |
T348A |
possibly damaging |
Het |
| Or1e23 |
T |
C |
11: 73,407,546 (GRCm39) |
T160A |
probably damaging |
Het |
| Or5bw2 |
T |
C |
7: 6,573,673 (GRCm39) |
S228P |
probably damaging |
Het |
| Or8k17 |
A |
G |
2: 86,066,430 (GRCm39) |
S243P |
probably damaging |
Het |
| Osbp2 |
T |
C |
11: 3,667,167 (GRCm39) |
T448A |
probably benign |
Het |
| Plrg1 |
A |
G |
3: 82,966,070 (GRCm39) |
D75G |
probably benign |
Het |
| Ppp1r8 |
T |
C |
4: 132,556,748 (GRCm39) |
E213G |
probably benign |
Het |
| Rad54l2 |
A |
G |
9: 106,580,828 (GRCm39) |
F898L |
possibly damaging |
Het |
| Rapgef6 |
TG |
TGG |
11: 54,437,223 (GRCm39) |
|
probably null |
Het |
| Rasl10a |
G |
C |
11: 5,009,542 (GRCm39) |
R110P |
probably damaging |
Het |
| Rttn |
T |
C |
18: 89,061,078 (GRCm39) |
I1082T |
probably benign |
Het |
| Sema6d |
A |
G |
2: 124,506,265 (GRCm39) |
D734G |
possibly damaging |
Het |
| Sgce |
C |
T |
6: 4,719,476 (GRCm39) |
V44M |
probably damaging |
Het |
| Sgo2b |
A |
G |
8: 64,380,831 (GRCm39) |
V667A |
possibly damaging |
Het |
| Slain2 |
C |
T |
5: 73,133,347 (GRCm39) |
P563S |
probably damaging |
Het |
| Slco1b2 |
A |
T |
6: 141,602,547 (GRCm39) |
I167F |
probably damaging |
Het |
| Speg |
T |
C |
1: 75,399,621 (GRCm39) |
L2356P |
probably damaging |
Het |
| Sptbn4 |
A |
G |
7: 27,118,164 (GRCm39) |
V305A |
probably benign |
Het |
| Sspo |
G |
A |
6: 48,434,658 (GRCm39) |
R1050H |
probably benign |
Het |
| Tmem106b |
A |
G |
6: 13,081,540 (GRCm39) |
N149S |
probably benign |
Het |
| Tmem200a |
T |
C |
10: 25,868,812 (GRCm39) |
T486A |
probably damaging |
Het |
| Tmem212 |
T |
A |
3: 27,939,250 (GRCm39) |
T79S |
possibly damaging |
Het |
| Ttll11 |
A |
G |
2: 35,779,337 (GRCm39) |
V471A |
probably damaging |
Het |
| Vill |
A |
G |
9: 118,899,769 (GRCm39) |
N318D |
probably benign |
Het |
| Vmn2r102 |
A |
G |
17: 19,899,032 (GRCm39) |
D458G |
possibly damaging |
Het |
| Zfp472 |
T |
A |
17: 33,196,952 (GRCm39) |
C342* |
probably null |
Het |
| Zfp963 |
A |
T |
8: 70,196,837 (GRCm39) |
|
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 |
|
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- AAATTGGGGATCAAAGGTTCGACACT -3'
(R):5'- ACACGTTGTTAGCTGCCTGTCAC -3'
Sequencing Primer
(F):5'- TGACAGGCACAGGTTGTTGAG -3'
(R):5'- atccgcctgtctctgcc -3'
|
| Posted On |
2014-04-24 |
Incidental Mutation