Incidental Mutation 'R3027:Shkbp1'
| ID |
265850 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Shkbp1
|
| Ensembl Gene |
ENSMUSG00000089832 |
| Gene Name |
Sh3kbp1 binding protein 1 |
| Synonyms |
SB1, B930062H15Rik |
| MMRRC Submission |
040543-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R3027 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
7 |
| Chromosomal Location |
27041558-27055444 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to C
at 27042818 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Alanine
at position 540
(S540A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000003857
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000003857]
|
| AlphaFold |
Q6P7W2 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000003857
AA Change: S540A
PolyPhen 2
Score 0.183 (Sensitivity: 0.92; Specificity: 0.87)
|
| SMART Domains |
Protein: ENSMUSP00000003857
Gene: ENSMUSG00000089832
AA Change: S540A
| Domain | Start | End | E-Value | Type |
|---|
|
BTB
|
19 |
119 |
1.65e-16 |
SMART |
|
low complexity region
|
183 |
194 |
N/A |
INTRINSIC |
|
Blast:WD40
|
196 |
271 |
1e-21 |
BLAST |
|
WD40
|
277 |
313 |
1.9e2 |
SMART |
|
WD40
|
419 |
457 |
3.45e-1 |
SMART |
|
WD40
|
527 |
577 |
3.68e1 |
SMART |
|
low complexity region
|
612 |
631 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000123190
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000132046
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000132684
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000140638
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000143239
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000148933
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000152053
|
| Meta Mutation Damage Score |
0.0716 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.3%
- 20x: 95.0%
|
| Validation Efficiency |
100% (33/33) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 31 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Arap2 |
T |
C |
5: 62,827,240 (GRCm39) |
T993A |
probably damaging |
Het |
| Arhgap18 |
G |
A |
10: 26,722,092 (GRCm39) |
G21D |
probably benign |
Het |
| Cluap1 |
T |
A |
16: 3,729,396 (GRCm39) |
C84* |
probably null |
Het |
| Dnmt3a |
T |
A |
12: 3,899,626 (GRCm39) |
|
probably null |
Het |
| Etaa1 |
T |
C |
11: 17,897,886 (GRCm39) |
D146G |
probably damaging |
Het |
| Fam227a |
T |
C |
15: 79,532,934 (GRCm39) |
|
probably null |
Het |
| Htt |
T |
A |
5: 34,977,439 (GRCm39) |
I775N |
possibly damaging |
Het |
| Itgax |
C |
A |
7: 127,747,744 (GRCm39) |
Y1053* |
probably null |
Het |
| Kif21a |
T |
A |
15: 90,856,845 (GRCm39) |
N583Y |
probably damaging |
Het |
| Lrp1b |
T |
A |
2: 40,760,283 (GRCm39) |
E2995V |
probably benign |
Het |
| Or1ad8 |
G |
A |
11: 50,897,879 (GRCm39) |
V27M |
possibly damaging |
Het |
| Or5h22 |
C |
T |
16: 58,895,330 (GRCm39) |
V38I |
probably benign |
Het |
| Or6aa1 |
T |
C |
7: 86,043,761 (GRCm39) |
N315S |
probably benign |
Het |
| Or8k39 |
C |
T |
2: 86,563,930 (GRCm39) |
V9M |
possibly damaging |
Het |
| Otos |
A |
T |
1: 92,572,076 (GRCm39) |
H83Q |
probably damaging |
Het |
| Pramel7 |
A |
G |
2: 87,321,747 (GRCm39) |
M96T |
probably benign |
Het |
| Ptprz1 |
T |
A |
6: 23,016,196 (GRCm39) |
S1680T |
possibly damaging |
Het |
| Rad50 |
A |
G |
11: 53,586,208 (GRCm39) |
S263P |
probably benign |
Het |
| Resf1 |
T |
C |
6: 149,230,533 (GRCm39) |
L1193P |
probably benign |
Het |
| Retreg2 |
A |
G |
1: 75,123,088 (GRCm39) |
S339G |
probably damaging |
Het |
| Schip1 |
G |
A |
3: 68,401,943 (GRCm39) |
A7T |
probably damaging |
Het |
| Slc15a4 |
A |
G |
5: 127,681,600 (GRCm39) |
|
probably null |
Het |
| Socs1 |
T |
C |
16: 10,602,578 (GRCm39) |
D53G |
possibly damaging |
Het |
| Spag9 |
G |
T |
11: 93,977,203 (GRCm39) |
R103L |
probably null |
Het |
| Spc24 |
AGAGGTAGTCACTGA |
AGA |
9: 21,667,511 (GRCm39) |
|
probably null |
Het |
| Spo11 |
T |
C |
2: 172,827,736 (GRCm39) |
Y146H |
probably damaging |
Het |
| Tmem25 |
T |
C |
9: 44,709,511 (GRCm39) |
|
probably null |
Het |
| Ttyh1 |
A |
G |
7: 4,122,721 (GRCm39) |
D23G |
probably benign |
Het |
| Vrk3 |
C |
T |
7: 44,424,866 (GRCm39) |
T427M |
probably benign |
Het |
| Zfp513 |
A |
G |
5: 31,356,673 (GRCm39) |
S540P |
possibly damaging |
Het |
| Zfp808 |
A |
T |
13: 62,319,404 (GRCm39) |
H211L |
probably benign |
Het |
|
| Other mutations in Shkbp1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01327:Shkbp1
|
APN |
7 |
27,054,676 (GRCm39) |
missense |
probably benign |
0.28 |
|
IGL01469:Shkbp1
|
APN |
7 |
27,055,366 (GRCm39) |
missense |
probably benign |
|
|
IGL01787:Shkbp1
|
APN |
7 |
27,041,875 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
IGL02149:Shkbp1
|
APN |
7 |
27,042,064 (GRCm39) |
unclassified |
probably benign |
|
|
IGL02902:Shkbp1
|
APN |
7 |
27,042,141 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R0086:Shkbp1
|
UTSW |
7 |
27,051,451 (GRCm39) |
missense |
probably benign |
0.00 |
|
R0219:Shkbp1
|
UTSW |
7 |
27,051,486 (GRCm39) |
missense |
probably benign |
0.01 |
|
R0485:Shkbp1
|
UTSW |
7 |
27,048,006 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1036:Shkbp1
|
UTSW |
7 |
27,044,721 (GRCm39) |
missense |
possibly damaging |
0.86 |
|
R1468:Shkbp1
|
UTSW |
7 |
27,044,751 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1468:Shkbp1
|
UTSW |
7 |
27,044,751 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1608:Shkbp1
|
UTSW |
7 |
27,054,204 (GRCm39) |
missense |
probably benign |
0.01 |
|
R1757:Shkbp1
|
UTSW |
7 |
27,041,776 (GRCm39) |
missense |
probably benign |
|
|
R1968:Shkbp1
|
UTSW |
7 |
27,054,825 (GRCm39) |
critical splice donor site |
probably null |
|
|
R2763:Shkbp1
|
UTSW |
7 |
27,046,454 (GRCm39) |
missense |
probably benign |
0.05 |
|
R3924:Shkbp1
|
UTSW |
7 |
27,041,827 (GRCm39) |
missense |
probably benign |
|
|
R4425:Shkbp1
|
UTSW |
7 |
27,042,727 (GRCm39) |
missense |
probably benign |
0.38 |
|
R5048:Shkbp1
|
UTSW |
7 |
27,051,521 (GRCm39) |
unclassified |
probably benign |
|
|
R5862:Shkbp1
|
UTSW |
7 |
27,042,829 (GRCm39) |
nonsense |
probably null |
|
|
R5955:Shkbp1
|
UTSW |
7 |
27,041,949 (GRCm39) |
missense |
probably benign |
|
|
R6016:Shkbp1
|
UTSW |
7 |
27,053,826 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
R6226:Shkbp1
|
UTSW |
7 |
27,051,405 (GRCm39) |
missense |
probably null |
1.00 |
|
R6362:Shkbp1
|
UTSW |
7 |
27,051,120 (GRCm39) |
critical splice donor site |
probably null |
|
|
R6382:Shkbp1
|
UTSW |
7 |
27,051,484 (GRCm39) |
nonsense |
probably null |
|
|
R6460:Shkbp1
|
UTSW |
7 |
27,049,963 (GRCm39) |
missense |
probably benign |
0.01 |
|
R6647:Shkbp1
|
UTSW |
7 |
27,041,800 (GRCm39) |
missense |
probably benign |
|
|
R7025:Shkbp1
|
UTSW |
7 |
27,054,706 (GRCm39) |
missense |
possibly damaging |
0.47 |
|
R7255:Shkbp1
|
UTSW |
7 |
27,042,173 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
R7522:Shkbp1
|
UTSW |
7 |
27,046,583 (GRCm39) |
missense |
possibly damaging |
0.88 |
|
R7571:Shkbp1
|
UTSW |
7 |
27,046,556 (GRCm39) |
missense |
possibly damaging |
0.90 |
|
R8207:Shkbp1
|
UTSW |
7 |
27,052,109 (GRCm39) |
missense |
probably benign |
0.01 |
|
R8770:Shkbp1
|
UTSW |
7 |
27,051,311 (GRCm39) |
missense |
possibly damaging |
0.65 |
|
R8996:Shkbp1
|
UTSW |
7 |
27,042,844 (GRCm39) |
missense |
possibly damaging |
0.88 |
|
R9361:Shkbp1
|
UTSW |
7 |
27,051,492 (GRCm39) |
missense |
probably benign |
0.00 |
|
R9758:Shkbp1
|
UTSW |
7 |
27,046,442 (GRCm39) |
missense |
probably benign |
0.22 |
|
Z1177:Shkbp1
|
UTSW |
7 |
27,046,426 (GRCm39) |
critical splice donor site |
probably null |
|
|
| Predicted Primers |
PCR Primer
(F):5'- GGCCTGGGAAGGGAAATCAT -3'
(R):5'- ACTGGATGGGGATGGATACG -3'
Sequencing Primer
(F):5'- AGGGTGGAGCCTGGGAC -3'
(R):5'- TGGATAAGGAGTGGTGGATAATG -3'
|
| Posted On |
2015-02-05 |
Incidental Mutation