Incidental Mutation 'R0086:Shkbp1'
ID |
19895 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Shkbp1
|
Ensembl Gene |
ENSMUSG00000089832 |
Gene Name |
Sh3kbp1 binding protein 1 |
Synonyms |
SB1, B930062H15Rik |
MMRRC Submission |
038373-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R0086 (G1)
|
Quality Score |
222 |
Status
|
Validated
|
Chromosome |
7 |
Chromosomal Location |
27041558-27055444 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
G to T
at 27051451 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Histidine to Asparagine
at position 203
(H203N)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000003857
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000003857]
[ENSMUST00000011895]
[ENSMUST00000108362]
[ENSMUST00000108363]
[ENSMUST00000108364]
[ENSMUST00000172269]
|
AlphaFold |
Q6P7W2 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000003857
AA Change: H203N
PolyPhen 2
Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
|
SMART Domains |
Protein: ENSMUSP00000003857 Gene: ENSMUSG00000089832 AA Change: H203N
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 |
probably benign
Transcript: ENSMUST00000011895
|
SMART Domains |
Protein: ENSMUSP00000011895 Gene: ENSMUSG00000011751
Domain | Start | End | E-Value | Type |
low complexity region
|
39 |
45 |
N/A |
INTRINSIC |
CH
|
64 |
164 |
8.03e-24 |
SMART |
CH
|
183 |
281 |
7.38e-23 |
SMART |
Pfam:Spectrin
|
310 |
420 |
1.4e-10 |
PFAM |
SPEC
|
433 |
533 |
5.22e-26 |
SMART |
SPEC
|
539 |
642 |
7.62e-19 |
SMART |
SPEC
|
648 |
766 |
1.31e-8 |
SMART |
SPEC
|
772 |
874 |
2.94e-11 |
SMART |
SPEC
|
880 |
980 |
1.49e-21 |
SMART |
SPEC
|
986 |
1081 |
1.65e0 |
SMART |
SPEC
|
1087 |
1192 |
2.82e-13 |
SMART |
SPEC
|
1198 |
1298 |
6.59e-14 |
SMART |
SPEC
|
1304 |
1403 |
4.08e-19 |
SMART |
SPEC
|
1409 |
1508 |
5.92e-7 |
SMART |
SPEC
|
1514 |
1614 |
2.45e-22 |
SMART |
SPEC
|
1620 |
1720 |
1.45e-24 |
SMART |
SPEC
|
1726 |
1827 |
1.86e-22 |
SMART |
SPEC
|
1833 |
1935 |
9.54e-11 |
SMART |
SPEC
|
1941 |
2041 |
1.35e-19 |
SMART |
SPEC
|
2047 |
2297 |
1.06e-8 |
SMART |
low complexity region
|
2358 |
2412 |
N/A |
INTRINSIC |
PH
|
2416 |
2526 |
1.54e-14 |
SMART |
low complexity region
|
2549 |
2560 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000108362
|
SMART Domains |
Protein: ENSMUSP00000103999 Gene: ENSMUSG00000011751
Domain | Start | End | E-Value | Type |
SPEC
|
1 |
83 |
9.7e-3 |
SMART |
SPEC
|
89 |
188 |
5.92e-7 |
SMART |
SPEC
|
194 |
294 |
2.45e-22 |
SMART |
SPEC
|
300 |
400 |
1.45e-24 |
SMART |
SPEC
|
406 |
507 |
1.86e-22 |
SMART |
SPEC
|
513 |
615 |
9.54e-11 |
SMART |
SPEC
|
621 |
721 |
1.35e-19 |
SMART |
SPEC
|
727 |
977 |
1.06e-8 |
SMART |
low complexity region
|
1038 |
1092 |
N/A |
INTRINSIC |
PH
|
1096 |
1206 |
1.54e-14 |
SMART |
low complexity region
|
1229 |
1240 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000108363
|
SMART Domains |
Protein: ENSMUSP00000104000 Gene: ENSMUSG00000011751
Domain | Start | End | E-Value | Type |
SPEC
|
1 |
83 |
9.7e-3 |
SMART |
SPEC
|
89 |
188 |
5.92e-7 |
SMART |
SPEC
|
194 |
294 |
2.45e-22 |
SMART |
SPEC
|
300 |
400 |
1.45e-24 |
SMART |
SPEC
|
406 |
507 |
1.86e-22 |
SMART |
SPEC
|
513 |
615 |
9.54e-11 |
SMART |
SPEC
|
621 |
721 |
1.35e-19 |
SMART |
SPEC
|
727 |
977 |
1.06e-8 |
SMART |
low complexity region
|
1038 |
1092 |
N/A |
INTRINSIC |
PH
|
1096 |
1206 |
1.54e-14 |
SMART |
low complexity region
|
1229 |
1240 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000108364
|
SMART Domains |
Protein: ENSMUSP00000104001 Gene: ENSMUSG00000011751
Domain | Start | End | E-Value | Type |
SPEC
|
1 |
83 |
9.7e-3 |
SMART |
SPEC
|
89 |
188 |
5.92e-7 |
SMART |
SPEC
|
194 |
294 |
2.45e-22 |
SMART |
SPEC
|
300 |
400 |
1.45e-24 |
SMART |
SPEC
|
406 |
507 |
1.86e-22 |
SMART |
SPEC
|
513 |
615 |
9.54e-11 |
SMART |
SPEC
|
621 |
721 |
1.35e-19 |
SMART |
SPEC
|
727 |
977 |
1.06e-8 |
SMART |
low complexity region
|
1038 |
1092 |
N/A |
INTRINSIC |
PH
|
1096 |
1206 |
1.54e-14 |
SMART |
low complexity region
|
1229 |
1240 |
N/A |
INTRINSIC |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000123190
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000132684
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000136589
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000143239
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000138449
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000132046
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000152053
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000157078
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000126587
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000172269
|
SMART Domains |
Protein: ENSMUSP00000132807 Gene: ENSMUSG00000011751
Domain | Start | End | E-Value | Type |
low complexity region
|
39 |
45 |
N/A |
INTRINSIC |
CH
|
64 |
164 |
8.03e-24 |
SMART |
CH
|
183 |
281 |
7.38e-23 |
SMART |
Pfam:Spectrin
|
310 |
420 |
1.9e-10 |
PFAM |
SPEC
|
433 |
533 |
5.22e-26 |
SMART |
SPEC
|
539 |
637 |
3.45e-17 |
SMART |
SPEC
|
643 |
761 |
1.31e-8 |
SMART |
SPEC
|
767 |
869 |
2.94e-11 |
SMART |
SPEC
|
875 |
975 |
1.49e-21 |
SMART |
SPEC
|
981 |
1076 |
1.65e0 |
SMART |
SPEC
|
1082 |
1187 |
2.82e-13 |
SMART |
SPEC
|
1193 |
1293 |
6.59e-14 |
SMART |
SPEC
|
1299 |
1398 |
4.08e-19 |
SMART |
SPEC
|
1404 |
1503 |
5.92e-7 |
SMART |
SPEC
|
1509 |
1609 |
2.45e-22 |
SMART |
SPEC
|
1615 |
1715 |
1.45e-24 |
SMART |
SPEC
|
1721 |
1822 |
1.86e-22 |
SMART |
SPEC
|
1828 |
1930 |
9.54e-11 |
SMART |
SPEC
|
1936 |
2036 |
1.35e-19 |
SMART |
SPEC
|
2042 |
2292 |
1.06e-8 |
SMART |
low complexity region
|
2352 |
2406 |
N/A |
INTRINSIC |
PH
|
2410 |
2520 |
1.54e-14 |
SMART |
low complexity region
|
2543 |
2554 |
N/A |
INTRINSIC |
|
Meta Mutation Damage Score |
0.0915 |
Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.0%
- 10x: 94.6%
- 20x: 86.6%
|
Validation Efficiency |
96% (91/95) |
Allele List at MGI |
|
Other mutations in this stock |
Total: 59 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
4930407I10Rik |
T |
A |
15: 81,946,802 (GRCm39) |
V233D |
probably benign |
Het |
Abcg8 |
T |
C |
17: 85,000,199 (GRCm39) |
V252A |
probably damaging |
Het |
Adam39 |
C |
T |
8: 41,279,397 (GRCm39) |
T596I |
possibly damaging |
Het |
Agap2 |
C |
A |
10: 126,923,751 (GRCm39) |
|
probably null |
Het |
Ap4b1 |
T |
G |
3: 103,722,176 (GRCm39) |
V50G |
probably damaging |
Het |
Atp13a1 |
T |
A |
8: 70,250,424 (GRCm39) |
I381N |
possibly damaging |
Het |
Bcl2 |
G |
A |
1: 106,640,292 (GRCm39) |
R107C |
probably damaging |
Het |
Birc6 |
T |
C |
17: 74,900,161 (GRCm39) |
V1113A |
possibly damaging |
Het |
C1galt1 |
T |
A |
6: 7,867,051 (GRCm39) |
|
probably benign |
Het |
Capza2 |
A |
G |
6: 17,660,773 (GRCm39) |
K158E |
probably damaging |
Het |
Cenpe |
C |
T |
3: 134,970,185 (GRCm39) |
|
probably benign |
Het |
Cercam |
T |
C |
2: 29,761,076 (GRCm39) |
L42P |
probably damaging |
Het |
Cfap54 |
T |
C |
10: 92,864,456 (GRCm39) |
E807G |
possibly damaging |
Het |
Cog6 |
A |
G |
3: 52,900,991 (GRCm39) |
V157A |
probably damaging |
Het |
Cts6 |
A |
T |
13: 61,344,271 (GRCm39) |
|
probably benign |
Het |
Cyp2c39 |
A |
T |
19: 39,499,357 (GRCm39) |
I15F |
unknown |
Het |
Dock7 |
A |
T |
4: 98,833,381 (GRCm39) |
V1970D |
probably damaging |
Het |
Exph5 |
A |
G |
9: 53,249,230 (GRCm39) |
D73G |
possibly damaging |
Het |
Gjc2 |
A |
T |
11: 59,067,672 (GRCm39) |
M270K |
probably benign |
Het |
Gns |
G |
A |
10: 121,227,378 (GRCm39) |
D463N |
probably damaging |
Het |
Hoxd8 |
G |
T |
2: 74,536,276 (GRCm39) |
G129W |
probably damaging |
Het |
Ina |
A |
G |
19: 47,012,030 (GRCm39) |
T483A |
possibly damaging |
Het |
Lmod3 |
T |
A |
6: 97,224,306 (GRCm39) |
Q505L |
probably damaging |
Het |
Map3k13 |
A |
G |
16: 21,732,975 (GRCm39) |
N526D |
probably damaging |
Het |
Map3k2 |
A |
T |
18: 32,351,521 (GRCm39) |
I435F |
probably damaging |
Het |
Mfsd6l |
A |
G |
11: 68,447,391 (GRCm39) |
T81A |
probably benign |
Het |
Micall1 |
T |
C |
15: 79,009,689 (GRCm39) |
|
probably benign |
Het |
Mkrn2 |
G |
T |
6: 115,590,296 (GRCm39) |
M217I |
possibly damaging |
Het |
Mtrex |
G |
T |
13: 113,063,862 (GRCm39) |
F10L |
probably benign |
Het |
Myh11 |
C |
A |
16: 14,041,883 (GRCm39) |
Q720H |
probably damaging |
Het |
Ncapg |
A |
G |
5: 45,834,086 (GRCm39) |
|
probably null |
Het |
Nlrp9a |
G |
A |
7: 26,257,972 (GRCm39) |
C530Y |
probably damaging |
Het |
Numb |
T |
C |
12: 83,842,704 (GRCm39) |
T442A |
probably damaging |
Het |
Oip5 |
C |
T |
2: 119,448,410 (GRCm39) |
|
probably benign |
Het |
Or1j14 |
A |
T |
2: 36,417,462 (GRCm39) |
I13F |
possibly damaging |
Het |
Or4c119 |
C |
T |
2: 88,986,820 (GRCm39) |
R233H |
probably benign |
Het |
Or51k1 |
A |
G |
7: 103,661,261 (GRCm39) |
I216T |
probably benign |
Het |
Or8g22 |
T |
C |
9: 38,958,191 (GRCm39) |
T175A |
probably benign |
Het |
Pcnx1 |
T |
C |
12: 82,038,832 (GRCm39) |
|
probably benign |
Het |
Pkhd1l1 |
T |
A |
15: 44,419,404 (GRCm39) |
N2956K |
possibly damaging |
Het |
Plcl1 |
T |
A |
1: 55,754,742 (GRCm39) |
W1030R |
probably damaging |
Het |
Polr2i |
G |
A |
7: 29,932,511 (GRCm39) |
V73M |
probably damaging |
Het |
Prr14l |
T |
A |
5: 32,988,903 (GRCm39) |
|
probably benign |
Het |
Pxdn |
G |
T |
12: 30,052,418 (GRCm39) |
R865L |
possibly damaging |
Het |
Scnn1a |
T |
C |
6: 125,319,550 (GRCm39) |
|
probably benign |
Het |
Slc22a14 |
C |
T |
9: 119,051,804 (GRCm39) |
|
probably benign |
Het |
Snap29 |
C |
A |
16: 17,246,100 (GRCm39) |
T240K |
probably damaging |
Het |
Sp2 |
C |
A |
11: 96,848,253 (GRCm39) |
G457C |
probably damaging |
Het |
Ssr2 |
C |
T |
3: 88,484,187 (GRCm39) |
|
probably benign |
Het |
Synpo2 |
A |
T |
3: 122,910,753 (GRCm39) |
C297* |
probably null |
Het |
Tpm3 |
T |
A |
3: 89,997,399 (GRCm39) |
|
probably benign |
Het |
Trmt6 |
CTG |
C |
2: 132,650,937 (GRCm39) |
|
probably benign |
Het |
Trp63 |
T |
C |
16: 25,689,837 (GRCm39) |
Y431H |
probably damaging |
Het |
Tuba3b |
T |
A |
6: 145,566,886 (GRCm39) |
C376S |
probably damaging |
Het |
Ubxn4 |
G |
A |
1: 128,190,641 (GRCm39) |
E256K |
probably benign |
Het |
Ulk1 |
G |
A |
5: 110,935,573 (GRCm39) |
|
probably benign |
Het |
Usp24 |
T |
C |
4: 106,249,557 (GRCm39) |
S1425P |
probably damaging |
Het |
Xdh |
T |
C |
17: 74,191,433 (GRCm39) |
I1335V |
probably benign |
Het |
Zmynd15 |
T |
C |
11: 70,355,058 (GRCm39) |
Y352H |
probably damaging |
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 |
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 |
R3027:Shkbp1
|
UTSW |
7 |
27,042,818 (GRCm39) |
missense |
probably benign |
0.18 |
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'- TGCAGCCACCATCTTGTCATGC -3'
(R):5'- ATGCTGAACTAGCTCCCCTGACTC -3'
Sequencing Primer
(F):5'- TTGTCATGCTCACCCGGAG -3'
(R):5'- ctcccctgactccAGCC -3'
|
Posted On |
2013-04-11 |