Incidental Mutation 'R7025:Shkbp1'
| ID |
545907 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Shkbp1
|
| Ensembl Gene |
ENSMUSG00000089832 |
| Gene Name |
Sh3kbp1 binding protein 1 |
| Synonyms |
SB1, B930062H15Rik |
| MMRRC Submission |
045126-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R7025 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
7 |
| Chromosomal Location |
27041558-27055444 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 27054706 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Valine
at position 65
(I65V)
|
| 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: I65V
PolyPhen 2
Score 0.474 (Sensitivity: 0.89; Specificity: 0.90)
|
| SMART Domains |
Protein: ENSMUSP00000003857
Gene: ENSMUSG00000089832
AA Change: I65V
| 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 |
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 |
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.6%
- 20x: 98.8%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 57 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acbd4 |
T |
A |
11: 102,995,364 (GRCm39) |
L90M |
probably damaging |
Het |
| Acot7 |
T |
C |
4: 152,262,646 (GRCm39) |
S7P |
unknown |
Het |
| Ahcyl2 |
T |
C |
6: 29,908,420 (GRCm39) |
Y388H |
probably damaging |
Het |
| Atp1a2 |
T |
A |
1: 172,112,117 (GRCm39) |
R593* |
probably null |
Het |
| Bicral |
T |
C |
17: 47,112,594 (GRCm39) |
T869A |
probably benign |
Het |
| Brca2 |
C |
T |
5: 150,463,943 (GRCm39) |
P1236S |
probably benign |
Het |
| Cacna2d1 |
C |
T |
5: 16,557,666 (GRCm39) |
Q699* |
probably null |
Het |
| Ccser2 |
T |
C |
14: 36,661,964 (GRCm39) |
N407D |
probably damaging |
Het |
| Cd300lg |
A |
G |
11: 101,933,900 (GRCm39) |
Y49C |
probably damaging |
Het |
| Cdh12 |
C |
A |
15: 21,358,900 (GRCm39) |
T108K |
probably damaging |
Het |
| Ctnnd1 |
A |
T |
2: 84,440,950 (GRCm39) |
I715K |
possibly damaging |
Het |
| Cyp17a1 |
T |
A |
19: 46,659,419 (GRCm39) |
D137V |
probably damaging |
Het |
| Dbr1 |
A |
G |
9: 99,458,036 (GRCm39) |
T19A |
probably damaging |
Het |
| Dnah3 |
C |
T |
7: 119,629,233 (GRCm39) |
A1441T |
possibly damaging |
Het |
| Dpt |
G |
A |
1: 164,624,508 (GRCm39) |
D70N |
probably damaging |
Het |
| Elk4 |
C |
A |
1: 131,947,107 (GRCm39) |
P366Q |
probably damaging |
Het |
| Eml4 |
A |
C |
17: 83,732,740 (GRCm39) |
D131A |
probably benign |
Het |
| Faap24 |
A |
G |
7: 35,092,296 (GRCm39) |
I207T |
possibly damaging |
Het |
| Fam219a |
T |
C |
4: 41,521,925 (GRCm39) |
S41G |
probably benign |
Het |
| Gask1b |
T |
C |
3: 79,793,855 (GRCm39) |
Y108H |
probably damaging |
Het |
| Ifi203 |
T |
C |
1: 173,755,951 (GRCm39) |
|
probably benign |
Het |
| Inpp4a |
T |
C |
1: 37,408,504 (GRCm39) |
V295A |
probably benign |
Het |
| Kif2a |
A |
G |
13: 107,119,102 (GRCm39) |
Y267H |
probably damaging |
Het |
| Kprp |
T |
A |
3: 92,732,504 (GRCm39) |
Q182L |
probably benign |
Het |
| Krt90 |
T |
C |
15: 101,465,610 (GRCm39) |
K337R |
possibly damaging |
Het |
| Lrp2 |
T |
A |
2: 69,313,372 (GRCm39) |
Y2453F |
possibly damaging |
Het |
| Magel2 |
A |
C |
7: 62,029,535 (GRCm39) |
Y813S |
unknown |
Het |
| Myh7 |
C |
A |
14: 55,212,101 (GRCm39) |
E1548* |
probably null |
Het |
| Myh8 |
A |
G |
11: 67,188,365 (GRCm39) |
T1009A |
probably benign |
Het |
| Nab2 |
T |
A |
10: 127,502,377 (GRCm39) |
|
probably benign |
Het |
| Neb |
T |
C |
2: 52,186,285 (GRCm39) |
D929G |
possibly damaging |
Het |
| Nelfb |
A |
C |
2: 25,100,505 (GRCm39) |
V155G |
probably damaging |
Het |
| Nmur1 |
C |
A |
1: 86,315,570 (GRCm39) |
M65I |
possibly damaging |
Het |
| Nop56 |
C |
T |
2: 130,119,801 (GRCm39) |
R81* |
probably null |
Het |
| Npnt |
C |
T |
3: 132,614,157 (GRCm39) |
C47Y |
probably damaging |
Het |
| Nrp1 |
G |
T |
8: 129,207,435 (GRCm39) |
C610F |
probably damaging |
Het |
| Or4a71 |
T |
A |
2: 89,357,948 (GRCm39) |
I269F |
probably damaging |
Het |
| Or5d45 |
T |
C |
2: 88,153,606 (GRCm39) |
K148E |
probably damaging |
Het |
| Or6c63-ps1 |
T |
A |
10: 128,900,544 (GRCm39) |
M1L |
probably benign |
Het |
| Pax5 |
G |
A |
4: 44,679,501 (GRCm39) |
Q93* |
probably null |
Het |
| Pcnt |
G |
T |
10: 76,239,669 (GRCm39) |
Q1273K |
probably damaging |
Het |
| Pde4dip |
G |
A |
3: 97,631,499 (GRCm39) |
Q1137* |
probably null |
Het |
| Pfas |
A |
T |
11: 68,881,586 (GRCm39) |
D959E |
probably benign |
Het |
| Pira13 |
T |
A |
7: 3,824,261 (GRCm39) |
K629* |
probably null |
Het |
| Prex1 |
TCCGACCCC |
TCCGACCCCGACCCC |
2: 166,455,107 (GRCm39) |
|
probably benign |
Het |
| Prpf40b |
C |
T |
15: 99,204,281 (GRCm39) |
Q182* |
probably null |
Het |
| Ptk2 |
G |
A |
15: 73,093,658 (GRCm39) |
P854S |
possibly damaging |
Het |
| Rpe65 |
A |
C |
3: 159,328,322 (GRCm39) |
E406A |
probably damaging |
Het |
| Serpina3k |
A |
T |
12: 104,307,401 (GRCm39) |
Y211F |
probably benign |
Het |
| Slc22a29 |
G |
A |
19: 8,137,944 (GRCm39) |
P544S |
probably benign |
Het |
| Stab2 |
T |
C |
10: 86,686,701 (GRCm39) |
D2281G |
probably damaging |
Het |
| Tjp2 |
A |
G |
19: 24,110,052 (GRCm39) |
M64T |
probably benign |
Het |
| Tnfrsf8 |
C |
T |
4: 145,000,973 (GRCm39) |
V378I |
possibly damaging |
Het |
| Trpm1 |
A |
T |
7: 63,876,462 (GRCm39) |
|
probably null |
Het |
| Ubqln3 |
A |
G |
7: 103,790,482 (GRCm39) |
I536T |
probably benign |
Het |
| Vmn1r44 |
A |
G |
6: 89,870,736 (GRCm39) |
T161A |
possibly damaging |
Het |
| Vmn2r108 |
T |
A |
17: 20,691,345 (GRCm39) |
I393F |
possibly 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 |
|
|
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 |
|
|
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'- AATGGTGCAAATGTGTGGGC -3'
(R):5'- GGAGACCCATTTCTACAATACTCAC -3'
Sequencing Primer
(F):5'- GCAAATGTGTGGGCATATTTTAATG -3'
(R):5'- TCTGCAACTCGGCCCATG -3'
|
| Posted On |
2019-05-13 |
Incidental Mutation