Incidental Mutation 'R8207:Shkbp1'
| ID |
635958 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Shkbp1
|
| Ensembl Gene |
ENSMUSG00000089832 |
| Gene Name |
Sh3kbp1 binding protein 1 |
| Synonyms |
SB1, B930062H15Rik |
| MMRRC Submission |
067630-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R8207 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
7 |
| Chromosomal Location |
27041558-27055444 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 27052109 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Alanine
at position 158
(V158A)
|
| 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: V158A
PolyPhen 2
Score 0.014 (Sensitivity: 0.96; Specificity: 0.79)
|
| SMART Domains |
Protein: ENSMUSP00000003857
Gene: ENSMUSG00000089832
AA Change: V158A
| 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: 99.9%
- 10x: 99.5%
- 20x: 98.5%
|
| Validation Efficiency |
100% (49/49) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 48 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Aen |
G |
A |
7: 78,552,491 (GRCm39) |
M150I |
possibly damaging |
Het |
| Arhgef11 |
A |
G |
3: 87,606,082 (GRCm39) |
N279S |
possibly damaging |
Het |
| Arid3a |
T |
C |
10: 79,786,760 (GRCm39) |
|
probably null |
Het |
| Casp8ap2 |
A |
G |
4: 32,646,446 (GRCm39) |
T1840A |
possibly damaging |
Het |
| Ccdc14 |
T |
A |
16: 34,525,413 (GRCm39) |
N235K |
possibly damaging |
Het |
| Cdh20 |
T |
C |
1: 109,922,076 (GRCm39) |
V56A |
probably damaging |
Het |
| Clec16a |
G |
A |
16: 10,512,574 (GRCm39) |
R837H |
probably damaging |
Het |
| Clec16a |
A |
G |
16: 10,445,312 (GRCm39) |
N518S |
probably benign |
Het |
| Cog7 |
T |
C |
7: 121,576,515 (GRCm39) |
D137G |
possibly damaging |
Het |
| Cpt1b |
T |
C |
15: 89,303,018 (GRCm39) |
T649A |
probably damaging |
Het |
| Efcab8 |
C |
G |
2: 153,631,145 (GRCm39) |
L192V |
probably damaging |
Het |
| Farp2 |
A |
G |
1: 93,548,965 (GRCm39) |
R1024G |
probably benign |
Het |
| Flvcr2 |
GTAGTGTATA |
GTA |
12: 85,849,922 (GRCm39) |
|
probably null |
Het |
| Fmo1 |
T |
A |
1: 162,677,676 (GRCm39) |
T147S |
probably benign |
Het |
| Fryl |
A |
C |
5: 73,257,843 (GRCm39) |
|
probably null |
Het |
| Galnt13 |
A |
C |
2: 54,770,122 (GRCm39) |
I305L |
probably benign |
Het |
| Guca2a |
A |
G |
4: 119,494,951 (GRCm39) |
N2D |
unknown |
Het |
| Iqcd |
C |
T |
5: 120,740,514 (GRCm39) |
R282W |
probably damaging |
Het |
| Lamc1 |
A |
C |
1: 153,126,268 (GRCm39) |
C475G |
probably damaging |
Het |
| Map3k5 |
AAAAGAAAAAGA |
AA |
10: 19,986,612 (GRCm39) |
|
probably null |
Het |
| Med13 |
A |
T |
11: 86,194,375 (GRCm39) |
D789E |
probably damaging |
Het |
| Mn1 |
A |
G |
5: 111,569,651 (GRCm39) |
Y1207C |
probably damaging |
Het |
| Mroh2b |
A |
G |
15: 4,967,892 (GRCm39) |
D977G |
possibly damaging |
Het |
| Mrpl53 |
A |
T |
6: 83,086,169 (GRCm39) |
N26I |
probably damaging |
Het |
| Nell1 |
A |
T |
7: 49,869,760 (GRCm39) |
|
probably null |
Het |
| Ogdh |
T |
G |
11: 6,299,329 (GRCm39) |
F743V |
probably benign |
Het |
| Or4d10b |
A |
T |
19: 12,036,222 (GRCm39) |
M298K |
possibly damaging |
Het |
| Or4n4 |
C |
T |
14: 50,519,036 (GRCm39) |
V225I |
probably benign |
Het |
| Or6c3 |
A |
G |
10: 129,308,953 (GRCm39) |
T131A |
probably benign |
Het |
| Plscr1l1 |
T |
A |
9: 92,233,061 (GRCm39) |
F61L |
probably benign |
Het |
| Pmvk |
A |
G |
3: 89,375,899 (GRCm39) |
E174G |
probably benign |
Het |
| Pou6f2 |
T |
C |
13: 18,414,158 (GRCm39) |
N206D |
|
Het |
| Prelid3a |
A |
T |
18: 67,606,018 (GRCm39) |
S42C |
probably benign |
Het |
| Riok1 |
T |
A |
13: 38,236,296 (GRCm39) |
H347Q |
probably damaging |
Het |
| Ryr1 |
A |
G |
7: 28,789,650 (GRCm39) |
L1488P |
probably damaging |
Het |
| Slc9c1 |
A |
G |
16: 45,360,076 (GRCm39) |
I43M |
possibly damaging |
Het |
| Smarca2 |
A |
G |
19: 26,654,080 (GRCm39) |
N755S |
possibly damaging |
Het |
| Tcof1 |
G |
C |
18: 60,962,123 (GRCm39) |
A702G |
possibly damaging |
Het |
| Tfb2m |
G |
A |
1: 179,373,668 (GRCm39) |
P10L |
probably benign |
Het |
| Trim30c |
T |
C |
7: 104,032,703 (GRCm39) |
M252V |
probably benign |
Het |
| Ttll1 |
A |
G |
15: 83,384,279 (GRCm39) |
L116P |
probably damaging |
Het |
| Tubd1 |
C |
T |
11: 86,440,248 (GRCm39) |
H91Y |
possibly damaging |
Het |
| Vgll4 |
A |
G |
6: 114,839,786 (GRCm39) |
S175P |
probably damaging |
Het |
| Vmn1r79 |
A |
G |
7: 11,910,415 (GRCm39) |
Y99C |
possibly damaging |
Het |
| Vmn2r80 |
C |
T |
10: 79,030,150 (GRCm39) |
Q659* |
probably null |
Het |
| Zfp382 |
A |
G |
7: 29,833,840 (GRCm39) |
D497G |
possibly damaging |
Het |
| Zfp41 |
A |
G |
15: 75,490,384 (GRCm39) |
E112G |
probably damaging |
Het |
| Zfyve26 |
A |
G |
12: 79,307,605 (GRCm39) |
S1754P |
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 |
|
|
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 |
|
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'- TGCTGAGTTCACACATGGAC -3'
(R):5'- CATTGAATGCTGAATCCCGG -3'
Sequencing Primer
(F):5'- TGGACCAGAGTAAGATCCTGTCTC -3'
(R):5'- TGAATCCCGGCACACAGAG -3'
|
| Posted On |
2020-07-13 |
Incidental Mutation