Incidental Mutation 'R3778:Shcbp1'
| ID |
271902 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Shcbp1
|
| Ensembl Gene |
ENSMUSG00000022322 |
| Gene Name |
Shc SH2-domain binding protein 1 |
| Synonyms |
mPAL |
| MMRRC Submission |
040750-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R3778 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
8 |
| Chromosomal Location |
4785976-4829549 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 4786295 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Asparagine to Lysine
at position 602
(N602K)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000022945
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000022945]
|
| AlphaFold |
Q9Z179 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000022945
AA Change: N602K
PolyPhen 2
Score 0.009 (Sensitivity: 0.96; Specificity: 0.77)
|
| SMART Domains |
Protein: ENSMUSP00000022945
Gene: ENSMUSG00000022322
AA Change: N602K
| 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 |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.2%
- 20x: 94.8%
|
| 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: 62 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adcy8 |
A |
T |
15: 64,618,846 (GRCm39) |
L769H |
probably damaging |
Het |
| Aldh1a7 |
A |
T |
19: 20,696,675 (GRCm39) |
M106K |
possibly damaging |
Het |
| Ankfn1 |
G |
T |
11: 89,332,220 (GRCm39) |
P442Q |
probably damaging |
Het |
| Aox1 |
A |
C |
1: 58,092,862 (GRCm39) |
D158A |
possibly damaging |
Het |
| Apc |
A |
G |
18: 34,446,134 (GRCm39) |
N976S |
probably damaging |
Het |
| Cfap54 |
C |
T |
10: 92,740,206 (GRCm39) |
|
probably benign |
Het |
| Cldn1 |
C |
T |
16: 26,190,216 (GRCm39) |
C54Y |
probably damaging |
Het |
| Col22a1 |
A |
T |
15: 71,845,541 (GRCm39) |
I407N |
probably damaging |
Het |
| Cyp2e1 |
T |
C |
7: 140,343,822 (GRCm39) |
V20A |
possibly damaging |
Het |
| Erp27 |
A |
T |
6: 136,896,901 (GRCm39) |
N100K |
possibly damaging |
Het |
| Fbn1 |
C |
T |
2: 125,159,006 (GRCm39) |
C2253Y |
probably damaging |
Het |
| Fhip1b |
T |
A |
7: 105,037,435 (GRCm39) |
T383S |
probably damaging |
Het |
| Flnb |
G |
A |
14: 7,915,353 (GRCm38) |
V1495I |
probably benign |
Het |
| Fscn3 |
A |
C |
6: 28,430,031 (GRCm39) |
K67T |
possibly damaging |
Het |
| Gls |
A |
G |
1: 52,208,071 (GRCm39) |
V571A |
probably benign |
Het |
| Gm14569 |
T |
A |
X: 35,696,085 (GRCm39) |
M875L |
probably benign |
Het |
| Gm4871 |
A |
G |
5: 144,966,893 (GRCm39) |
S197P |
probably damaging |
Het |
| Gm7104 |
A |
T |
12: 88,252,441 (GRCm39) |
|
noncoding transcript |
Het |
| Gp9 |
A |
T |
6: 87,755,987 (GRCm39) |
M1L |
probably benign |
Het |
| Greb1l |
T |
A |
18: 10,469,444 (GRCm39) |
L153H |
possibly damaging |
Het |
| H1f8 |
T |
C |
6: 115,926,708 (GRCm39) |
|
probably null |
Het |
| Hadha |
A |
T |
5: 30,325,127 (GRCm39) |
C688S |
probably damaging |
Het |
| Hif1an |
A |
G |
19: 44,557,847 (GRCm39) |
D243G |
probably damaging |
Het |
| Hmcn1 |
A |
T |
1: 150,678,575 (GRCm39) |
D515E |
possibly damaging |
Het |
| Hsfy2 |
A |
T |
1: 56,675,847 (GRCm39) |
V230E |
possibly damaging |
Het |
| Ighv1-72 |
A |
T |
12: 115,721,636 (GRCm39) |
S107T |
probably damaging |
Het |
| Inpp4b |
T |
A |
8: 82,768,621 (GRCm39) |
V710D |
possibly damaging |
Het |
| Itpr3 |
A |
G |
17: 27,314,446 (GRCm39) |
D632G |
possibly damaging |
Het |
| Kcnd3 |
C |
T |
3: 105,566,082 (GRCm39) |
A421V |
probably damaging |
Het |
| Lrig2 |
A |
G |
3: 104,365,277 (GRCm39) |
I625T |
probably benign |
Het |
| Lrp2 |
A |
T |
2: 69,339,548 (GRCm39) |
M1121K |
probably benign |
Het |
| Man2b2 |
T |
C |
5: 36,972,871 (GRCm39) |
N548D |
probably benign |
Het |
| Mei1 |
T |
C |
15: 81,966,209 (GRCm39) |
L277P |
probably damaging |
Het |
| Mki67 |
A |
C |
7: 135,297,859 (GRCm39) |
S2392A |
probably benign |
Het |
| Mycbp2 |
T |
A |
14: 103,434,721 (GRCm39) |
I2241F |
probably damaging |
Het |
| Nalcn |
G |
A |
14: 123,702,128 (GRCm39) |
T461M |
probably damaging |
Het |
| Ncoa6 |
A |
G |
2: 155,263,115 (GRCm39) |
S440P |
probably damaging |
Het |
| Ncoa7 |
A |
G |
10: 30,565,752 (GRCm39) |
Y632H |
probably damaging |
Het |
| Notch2 |
T |
C |
3: 98,053,939 (GRCm39) |
S2201P |
probably damaging |
Het |
| Or10c1 |
T |
C |
17: 37,522,649 (GRCm39) |
T32A |
probably benign |
Het |
| Or5p52 |
C |
A |
7: 107,501,954 (GRCm39) |
A10E |
probably benign |
Het |
| Pard6g |
A |
T |
18: 80,123,038 (GRCm39) |
|
probably null |
Het |
| Pask |
T |
A |
1: 93,255,189 (GRCm39) |
I294F |
probably damaging |
Het |
| Pax9 |
A |
G |
12: 56,743,533 (GRCm39) |
Y60C |
probably damaging |
Het |
| Pcdh15 |
G |
A |
10: 73,782,983 (GRCm39) |
|
probably null |
Het |
| Pik3c2g |
A |
T |
6: 139,599,385 (GRCm39) |
Y167F |
probably damaging |
Het |
| Ppfibp2 |
A |
G |
7: 107,328,396 (GRCm39) |
T476A |
probably benign |
Het |
| Ppm1e |
T |
C |
11: 87,139,754 (GRCm39) |
|
probably null |
Het |
| Rsph14 |
T |
G |
10: 74,793,420 (GRCm39) |
Q360P |
possibly damaging |
Het |
| Rsph14 |
C |
G |
10: 74,793,419 (GRCm39) |
Q360H |
possibly damaging |
Het |
| Sec24c |
A |
G |
14: 20,733,375 (GRCm39) |
Q234R |
possibly damaging |
Het |
| Sirt5 |
A |
G |
13: 43,536,583 (GRCm39) |
|
probably null |
Het |
| Slc66a1 |
T |
C |
4: 139,026,293 (GRCm39) |
|
probably null |
Het |
| Sp8 |
G |
T |
12: 118,812,750 (GRCm39) |
V202L |
possibly damaging |
Het |
| Tle6 |
G |
T |
10: 81,431,987 (GRCm39) |
P86T |
probably benign |
Het |
| Tmem235 |
A |
T |
11: 117,753,126 (GRCm39) |
H83L |
probably benign |
Het |
| Trappc10 |
A |
G |
10: 78,036,636 (GRCm39) |
V861A |
possibly damaging |
Het |
| Trpm2 |
A |
C |
10: 77,771,824 (GRCm39) |
L605R |
probably benign |
Het |
| Vat1l |
T |
C |
8: 114,963,540 (GRCm39) |
|
probably null |
Het |
| Wnt6 |
A |
C |
1: 74,821,941 (GRCm39) |
D174A |
possibly damaging |
Het |
| Wwox |
T |
C |
8: 115,601,347 (GRCm39) |
C355R |
probably benign |
Het |
| Zfp229 |
A |
T |
17: 21,964,183 (GRCm39) |
T138S |
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 |
|
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'- AATGTGCCAAAACTCCCTTTGC -3'
(R):5'- TGCAAGAAGATCTAAGTAGCTACTC -3'
Sequencing Primer
(F):5'- GCCATTCCACTTAAACTGGTTC -3'
(R):5'- ACTCTTGGCAGAAAATACTTGAATC -3'
|
| Posted On |
2015-03-25 |
Incidental Mutation