Incidental Mutation 'R6226:Shkbp1'
| ID |
504336 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Shkbp1
|
| Ensembl Gene |
ENSMUSG00000089832 |
| Gene Name |
Sh3kbp1 binding protein 1 |
| Synonyms |
SB1, B930062H15Rik |
| MMRRC Submission |
044397-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R6226 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
7 |
| Chromosomal Location |
27041558-27055444 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to A
at 27051405 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Arginine to Methionine
at position 218
(R218M)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000003857
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000003857]
[ENSMUST00000003857]
[ENSMUST00000003857]
[ENSMUST00000011895]
[ENSMUST00000108362]
[ENSMUST00000108363]
[ENSMUST00000108364]
[ENSMUST00000172269]
|
| AlphaFold |
Q6P7W2 |
| Predicted Effect |
probably null
Transcript: ENSMUST00000003857
AA Change: R218M
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000003857
Gene: ENSMUSG00000089832
AA Change: R218M
| 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 null
Transcript: ENSMUST00000003857
AA Change: R218M
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000003857
Gene: ENSMUSG00000089832
AA Change: R218M
| 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 null
Transcript: ENSMUST00000003857
AA Change: R218M
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000003857
Gene: ENSMUSG00000089832
AA Change: R218M
| 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: ENSMUST00000138449
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000136589
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000143239
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000152053
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000132684
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000132046
|
| 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 |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000157078
|
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.6%
- 10x: 98.3%
- 20x: 95.3%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 70 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Actn2 |
T |
C |
13: 12,293,853 (GRCm39) |
T62A |
probably benign |
Het |
| Adam33 |
G |
A |
2: 130,897,530 (GRCm39) |
T265I |
probably damaging |
Het |
| Afap1l2 |
T |
C |
19: 56,904,560 (GRCm39) |
T654A |
probably benign |
Het |
| Agrn |
A |
G |
4: 156,258,066 (GRCm39) |
S992P |
probably damaging |
Het |
| Anapc1 |
A |
G |
2: 128,492,292 (GRCm39) |
F939L |
probably damaging |
Het |
| Anks1 |
G |
A |
17: 28,276,304 (GRCm39) |
V1016I |
probably benign |
Het |
| Ankzf1 |
A |
G |
1: 75,173,238 (GRCm39) |
T401A |
probably benign |
Het |
| Atad1 |
G |
T |
19: 32,678,987 (GRCm39) |
D105E |
probably benign |
Het |
| Carmil2 |
A |
G |
8: 106,415,664 (GRCm39) |
T313A |
possibly damaging |
Het |
| Cdk15 |
T |
C |
1: 59,304,792 (GRCm39) |
V131A |
probably damaging |
Het |
| Cldnd1 |
A |
T |
16: 58,551,663 (GRCm39) |
|
probably null |
Het |
| Col16a1 |
A |
T |
4: 129,948,882 (GRCm39) |
|
probably benign |
Het |
| Cts3 |
T |
A |
13: 61,716,535 (GRCm39) |
I34L |
probably benign |
Het |
| Dnah7b |
A |
C |
1: 46,165,828 (GRCm39) |
K498Q |
probably benign |
Het |
| Dnase2b |
A |
G |
3: 146,290,318 (GRCm39) |
Y218H |
probably benign |
Het |
| Dsg2 |
T |
A |
18: 20,712,506 (GRCm39) |
V170D |
probably damaging |
Het |
| Dst |
T |
C |
1: 34,309,955 (GRCm39) |
V1543A |
probably damaging |
Het |
| Ell3 |
A |
T |
2: 121,272,258 (GRCm39) |
I72K |
probably damaging |
Het |
| Fank1 |
A |
G |
7: 133,463,927 (GRCm39) |
Y41C |
probably benign |
Het |
| Foxd3 |
T |
C |
4: 99,545,261 (GRCm39) |
Y134H |
probably damaging |
Het |
| Frmd6 |
A |
G |
12: 70,910,685 (GRCm39) |
|
probably benign |
Het |
| Gale |
A |
G |
4: 135,692,916 (GRCm39) |
E53G |
possibly damaging |
Het |
| Glis3 |
A |
G |
19: 28,294,702 (GRCm39) |
S699P |
probably damaging |
Het |
| Gm12830 |
T |
A |
4: 114,702,246 (GRCm39) |
M136K |
unknown |
Het |
| Grik3 |
T |
C |
4: 125,553,582 (GRCm39) |
V438A |
probably benign |
Het |
| Gsap |
A |
G |
5: 21,422,429 (GRCm39) |
N133D |
probably damaging |
Het |
| Gsg1 |
T |
A |
6: 135,217,110 (GRCm39) |
D239V |
probably damaging |
Het |
| H2-T10 |
A |
T |
17: 36,431,975 (GRCm39) |
W23R |
probably damaging |
Het |
| Itgae |
A |
G |
11: 73,031,583 (GRCm39) |
T1100A |
probably benign |
Het |
| Kcnh7 |
A |
T |
2: 62,607,903 (GRCm39) |
F559L |
probably damaging |
Het |
| Kdm5b |
G |
T |
1: 134,536,616 (GRCm39) |
R612L |
probably damaging |
Het |
| Lrrc74a |
T |
A |
12: 86,795,231 (GRCm39) |
N253K |
possibly damaging |
Het |
| Mcm3ap |
A |
G |
10: 76,351,540 (GRCm39) |
H1961R |
possibly damaging |
Het |
| Ncam1 |
C |
T |
9: 49,476,304 (GRCm39) |
E262K |
probably benign |
Het |
| Nckap1 |
A |
G |
2: 80,339,125 (GRCm39) |
S968P |
possibly damaging |
Het |
| Nkapd1 |
T |
C |
9: 50,519,070 (GRCm39) |
T181A |
possibly damaging |
Het |
| Nr2f2 |
T |
G |
7: 70,009,744 (GRCm39) |
S112R |
probably benign |
Het |
| Nup93 |
T |
C |
8: 95,013,165 (GRCm39) |
W137R |
probably damaging |
Het |
| Or10ag53 |
A |
G |
2: 87,082,736 (GRCm39) |
S152G |
probably benign |
Het |
| Or2t26 |
A |
G |
11: 49,039,660 (GRCm39) |
D192G |
possibly damaging |
Het |
| Or4a78 |
A |
T |
2: 89,497,333 (GRCm39) |
L299H |
probably damaging |
Het |
| Or52n1 |
A |
T |
7: 104,383,243 (GRCm39) |
F109L |
probably damaging |
Het |
| Or8b12 |
T |
A |
9: 37,657,433 (GRCm39) |
M1K |
probably null |
Het |
| Or8b55 |
T |
C |
9: 38,727,666 (GRCm39) |
I289T |
probably damaging |
Het |
| Otogl |
A |
T |
10: 107,607,067 (GRCm39) |
Y2105* |
probably null |
Het |
| Pibf1 |
A |
G |
14: 99,338,555 (GRCm39) |
S24G |
probably damaging |
Het |
| Pitx2 |
C |
T |
3: 129,009,491 (GRCm39) |
R130W |
probably damaging |
Het |
| Pkd1l1 |
T |
C |
11: 8,851,287 (GRCm39) |
N715S |
probably benign |
Het |
| Pou6f2 |
A |
T |
13: 18,303,739 (GRCm39) |
I123N |
possibly damaging |
Het |
| Prss29 |
T |
A |
17: 25,539,513 (GRCm39) |
H35Q |
possibly damaging |
Het |
| Ptpn21 |
A |
G |
12: 98,646,375 (GRCm39) |
F1028L |
probably benign |
Het |
| Ptpn21 |
A |
T |
12: 98,681,431 (GRCm39) |
Y68N |
probably damaging |
Het |
| Ptprk |
A |
G |
10: 28,440,099 (GRCm39) |
T856A |
probably benign |
Het |
| Rnd2 |
C |
T |
11: 101,359,825 (GRCm39) |
L57F |
probably damaging |
Het |
| Rpl22l1 |
A |
G |
3: 28,860,676 (GRCm39) |
T13A |
possibly damaging |
Het |
| Rptn |
C |
G |
3: 93,305,437 (GRCm39) |
H923Q |
possibly damaging |
Het |
| Sec14l5 |
G |
A |
16: 4,994,429 (GRCm39) |
V408I |
probably damaging |
Het |
| Serpina5 |
T |
C |
12: 104,068,037 (GRCm39) |
S33P |
possibly damaging |
Het |
| Sgip1 |
A |
G |
4: 102,823,392 (GRCm39) |
N524S |
probably damaging |
Het |
| Sorcs1 |
T |
A |
19: 50,169,852 (GRCm39) |
I970F |
probably damaging |
Het |
| Spg11 |
A |
G |
2: 121,918,743 (GRCm39) |
V962A |
possibly damaging |
Het |
| Sptbn1 |
A |
G |
11: 30,086,054 (GRCm39) |
M1205T |
probably damaging |
Het |
| Sufu |
G |
A |
19: 46,462,093 (GRCm39) |
V369M |
probably damaging |
Het |
| Tmem98 |
T |
C |
11: 80,712,220 (GRCm39) |
F219S |
probably benign |
Het |
| Trim27 |
T |
C |
13: 21,365,086 (GRCm39) |
|
probably benign |
Het |
| Trim43b |
T |
C |
9: 88,973,328 (GRCm39) |
E135G |
possibly damaging |
Het |
| Ube2m |
A |
G |
7: 12,769,815 (GRCm39) |
V110A |
probably damaging |
Het |
| Ugt2b36 |
A |
G |
5: 87,239,989 (GRCm39) |
V132A |
probably damaging |
Het |
| Usp36 |
A |
T |
11: 118,168,100 (GRCm39) |
S86T |
probably damaging |
Het |
| Zfp941 |
A |
T |
7: 140,392,398 (GRCm39) |
D320E |
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 |
|
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 |
|
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'- AGCCACCATCTTGTCATGC -3'
(R):5'- GCCTACACCACCAGATGTAG -3'
Sequencing Primer
(F):5'- TTGTCATGCTCACCCGGAG -3'
(R):5'- AGCTTACATTTCTGTCCTTTAGGAG -3'
|
| Posted On |
2018-02-28 |
Incidental Mutation