Incidental Mutation 'R6016:Shkbp1'
ID |
478600 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Shkbp1
|
Ensembl Gene |
ENSMUSG00000089832 |
Gene Name |
Sh3kbp1 binding protein 1 |
Synonyms |
SB1, B930062H15Rik |
MMRRC Submission |
043255-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R6016 (G1)
|
Quality Score |
225.009 |
Status
|
Not validated
|
Chromosome |
7 |
Chromosomal Location |
27041558-27055444 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 27053826 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Valine to Alanine
at position 124
(V124A)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000003857
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000003857]
[ENSMUST00000011895]
[ENSMUST00000108362]
[ENSMUST00000108363]
[ENSMUST00000108364]
[ENSMUST00000172269]
|
AlphaFold |
Q6P7W2 |
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000003857
AA Change: V124A
PolyPhen 2
Score 0.920 (Sensitivity: 0.81; Specificity: 0.94)
|
SMART Domains |
Protein: ENSMUSP00000003857 Gene: ENSMUSG00000089832 AA Change: V124A
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 |
probably benign
Transcript: ENSMUST00000126587
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000132684
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000152053
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000136589
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000138449
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000157078
|
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 |
|
Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.4%
- 10x: 97.0%
- 20x: 90.5%
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 32 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Apol9b |
T |
C |
15: 77,620,058 (GRCm39) |
S285P |
probably damaging |
Het |
Casz1 |
C |
A |
4: 149,019,041 (GRCm39) |
N447K |
probably damaging |
Het |
Cltb |
T |
C |
13: 54,754,480 (GRCm39) |
T71A |
possibly damaging |
Het |
Dcaf12 |
A |
G |
4: 41,313,267 (GRCm39) |
F93L |
probably damaging |
Het |
Dnah5 |
T |
C |
15: 28,328,030 (GRCm39) |
Y2135H |
probably damaging |
Het |
Entpd2 |
C |
T |
2: 25,288,568 (GRCm39) |
R191W |
probably damaging |
Het |
Gm17067 |
G |
T |
7: 42,357,654 (GRCm39) |
P283T |
probably benign |
Het |
Gm3250 |
A |
G |
10: 77,618,367 (GRCm39) |
|
probably benign |
Het |
Gne |
T |
C |
4: 44,039,063 (GRCm39) |
E532G |
probably damaging |
Het |
Gsdmc3 |
T |
G |
15: 63,740,261 (GRCm39) |
D86A |
probably benign |
Het |
Hs3st2 |
A |
G |
7: 121,099,922 (GRCm39) |
H256R |
probably damaging |
Het |
Il19 |
T |
A |
1: 130,863,718 (GRCm39) |
D16V |
probably damaging |
Het |
Lats2 |
A |
T |
14: 57,971,632 (GRCm39) |
N14K |
probably damaging |
Het |
Mill2 |
G |
T |
7: 18,590,373 (GRCm39) |
S151I |
probably benign |
Het |
Ncapg2 |
G |
A |
12: 116,390,227 (GRCm39) |
R392H |
probably damaging |
Het |
Nop56 |
T |
C |
2: 130,118,545 (GRCm39) |
|
probably null |
Het |
Or14j8 |
A |
T |
17: 38,262,967 (GRCm39) |
V316D |
probably benign |
Het |
Or2bd2 |
A |
T |
7: 6,443,613 (GRCm39) |
H238L |
probably benign |
Het |
Or5p5 |
A |
T |
7: 107,414,219 (GRCm39) |
I143F |
probably benign |
Het |
Pde1a |
T |
C |
2: 79,695,406 (GRCm39) |
R446G |
probably benign |
Het |
Pes1 |
T |
A |
11: 3,928,004 (GRCm39) |
M552K |
possibly damaging |
Het |
Plxnb2 |
T |
A |
15: 89,045,225 (GRCm39) |
T1074S |
possibly damaging |
Het |
Psg23 |
G |
T |
7: 18,346,112 (GRCm39) |
H194Q |
probably benign |
Het |
Rprd2 |
A |
G |
3: 95,694,685 (GRCm39) |
V116A |
probably damaging |
Het |
Slc38a8 |
A |
T |
8: 120,221,044 (GRCm39) |
|
probably null |
Het |
Slitrk6 |
A |
G |
14: 110,987,958 (GRCm39) |
V583A |
probably benign |
Het |
Sptbn5 |
G |
T |
2: 119,880,573 (GRCm39) |
|
noncoding transcript |
Het |
Stab1 |
A |
T |
14: 30,880,950 (GRCm39) |
I614N |
probably damaging |
Het |
Tgm6 |
A |
G |
2: 129,983,148 (GRCm39) |
T246A |
probably damaging |
Het |
Tnks1bp1 |
T |
C |
2: 84,882,734 (GRCm39) |
L187P |
probably damaging |
Het |
Vmn1r157 |
A |
G |
7: 22,461,272 (GRCm39) |
R51G |
possibly damaging |
Het |
Vmn2r68 |
A |
T |
7: 84,871,453 (GRCm39) |
I610K |
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 |
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 |
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 |
|
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'- TAAAGAGAACTGGCTGTTGCAC -3'
(R):5'- TAAGAGCACCGGATTTGGG -3'
Sequencing Primer
(F):5'- CTGTTGCACAGCTTCAAGG -3'
(R):5'- CACCGGATTTGGGTCTGGC -3'
|
Posted On |
2017-06-26 |