Incidental Mutation 'R6366:Shcbp1'
| ID |
512690 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Shcbp1
|
| Ensembl Gene |
ENSMUSG00000022322 |
| Gene Name |
Shc SH2-domain binding protein 1 |
| Synonyms |
mPAL |
| MMRRC Submission |
044516-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R6366 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
8 |
| Chromosomal Location |
4785976-4829549 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 4799380 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Alanine
at position 335
(V335A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000022945
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000022945]
|
| AlphaFold |
Q9Z179 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000022945
AA Change: V335A
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000022945
Gene: ENSMUSG00000022322
AA Change: V335A
| 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 |
possibly damaging
Transcript: ENSMUST00000207876
AA Change: V68A
PolyPhen 2
Score 0.936 (Sensitivity: 0.80; Specificity: 0.94)
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000208856
|
| Meta Mutation Damage Score |
0.4017 |
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.7%
- 10x: 98.0%
- 20x: 93.4%
|
| 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: 50 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Agl |
A |
G |
3: 116,584,766 (GRCm39) |
F185L |
probably damaging |
Het |
| Ank3 |
A |
G |
10: 69,835,188 (GRCm39) |
D131G |
probably damaging |
Het |
| Boc |
T |
C |
16: 44,308,015 (GRCm39) |
K947E |
probably benign |
Het |
| Ccdc110 |
A |
G |
8: 46,396,425 (GRCm39) |
E772G |
probably damaging |
Het |
| Ccdc7a |
A |
G |
8: 129,582,473 (GRCm39) |
V1055A |
unknown |
Het |
| Chd1l |
A |
G |
3: 97,501,476 (GRCm39) |
V190A |
probably benign |
Het |
| Chl1 |
C |
A |
6: 103,706,197 (GRCm39) |
N396K |
possibly damaging |
Het |
| CN725425 |
T |
G |
15: 91,131,124 (GRCm39) |
Y420D |
possibly damaging |
Het |
| Col6a1 |
A |
T |
10: 76,546,804 (GRCm39) |
I806N |
unknown |
Het |
| Csmd2 |
A |
G |
4: 128,377,245 (GRCm39) |
K2042E |
probably benign |
Het |
| Eif4a1 |
G |
T |
11: 69,561,781 (GRCm39) |
D15E |
probably benign |
Het |
| Etfb |
T |
C |
7: 43,102,365 (GRCm39) |
L119S |
probably damaging |
Het |
| Fbxo42 |
T |
A |
4: 140,927,260 (GRCm39) |
S513R |
probably benign |
Het |
| Gys2 |
C |
A |
6: 142,409,120 (GRCm39) |
C45F |
probably benign |
Het |
| Hspa1a |
G |
A |
17: 35,189,500 (GRCm39) |
P468S |
probably damaging |
Het |
| Kdm2a |
G |
T |
19: 4,374,960 (GRCm39) |
Q724K |
probably benign |
Het |
| Lama3 |
G |
T |
18: 12,615,194 (GRCm39) |
G1373W |
probably damaging |
Het |
| Lhx1 |
A |
T |
11: 84,413,034 (GRCm39) |
F84Y |
probably damaging |
Het |
| Lpxn |
G |
A |
19: 12,802,163 (GRCm39) |
V163M |
probably benign |
Het |
| Lrrc7 |
T |
C |
3: 157,841,012 (GRCm39) |
Q1389R |
probably benign |
Het |
| Lrtm2 |
T |
C |
6: 119,294,238 (GRCm39) |
R298G |
probably damaging |
Het |
| Ltv1 |
A |
G |
10: 13,056,739 (GRCm39) |
V268A |
probably benign |
Het |
| Mgat4d |
T |
A |
8: 84,095,580 (GRCm39) |
|
probably null |
Het |
| Mknk2 |
C |
A |
10: 80,507,767 (GRCm39) |
R33L |
probably damaging |
Het |
| Ms4a1 |
A |
G |
19: 11,236,062 (GRCm39) |
S42P |
probably damaging |
Het |
| Muc16 |
T |
C |
9: 18,557,340 (GRCm39) |
I2984M |
unknown |
Het |
| Mup12 |
A |
C |
4: 60,696,657 (GRCm39) |
F74V |
probably damaging |
Het |
| Nacad |
A |
C |
11: 6,551,196 (GRCm39) |
L665R |
probably benign |
Het |
| Pde6a |
T |
A |
18: 61,398,142 (GRCm39) |
|
probably null |
Het |
| Plb1 |
A |
G |
5: 32,471,429 (GRCm39) |
N579D |
possibly damaging |
Het |
| Podn |
T |
A |
4: 107,876,001 (GRCm39) |
I552F |
possibly damaging |
Het |
| Potefam1 |
A |
G |
2: 110,999,937 (GRCm39) |
|
probably null |
Het |
| Pramel32 |
T |
A |
4: 88,547,102 (GRCm39) |
I106F |
probably damaging |
Het |
| Prl3b1 |
A |
T |
13: 27,427,875 (GRCm39) |
M62L |
probably benign |
Het |
| Ptpn13 |
G |
T |
5: 103,698,919 (GRCm39) |
R1134L |
probably damaging |
Het |
| Rpl37 |
T |
A |
15: 5,147,990 (GRCm39) |
|
probably null |
Het |
| Samd4 |
T |
A |
14: 47,311,607 (GRCm39) |
|
probably null |
Het |
| Sh3rf2 |
T |
C |
18: 42,286,130 (GRCm39) |
V541A |
probably benign |
Het |
| Slc7a7 |
T |
C |
14: 54,612,057 (GRCm39) |
Y282C |
probably damaging |
Het |
| Spag7 |
T |
C |
11: 70,555,418 (GRCm39) |
K125E |
possibly damaging |
Het |
| Spata31e4 |
T |
C |
13: 50,855,972 (GRCm39) |
Y537H |
probably benign |
Het |
| Sptan1 |
T |
C |
2: 29,910,467 (GRCm39) |
S1831P |
possibly damaging |
Het |
| Stab1 |
T |
C |
14: 30,863,395 (GRCm39) |
K2097R |
probably benign |
Het |
| Stk38 |
A |
G |
17: 29,193,338 (GRCm39) |
W364R |
probably benign |
Het |
| Tectb |
G |
A |
19: 55,170,350 (GRCm39) |
G67D |
probably damaging |
Het |
| Ttll9 |
G |
T |
2: 152,833,525 (GRCm39) |
D208Y |
probably damaging |
Het |
| Tyro3 |
G |
A |
2: 119,647,156 (GRCm39) |
D758N |
probably damaging |
Het |
| Tyw1 |
T |
C |
5: 130,310,792 (GRCm39) |
|
probably benign |
Het |
| Unc5b |
C |
T |
10: 60,614,091 (GRCm39) |
A253T |
probably benign |
Het |
| Wtap |
A |
T |
17: 13,186,945 (GRCm39) |
|
probably null |
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 |
|
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'- GTGCTCTTACAATTTGGATCTCAC -3'
(R):5'- GCTAAAGCTCATTGAGAATCCTTTG -3'
Sequencing Primer
(F):5'- TTTGGATCTCACAGAAAACCAGCTC -3'
(R):5'- AGCTCATTGAGAATCCTTTGTTAAG -3'
|
| Posted On |
2018-04-27 |
Incidental Mutation