Incidental Mutation 'R1036:Shkbp1'
| ID |
93792 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Shkbp1
|
| Ensembl Gene |
ENSMUSG00000089832 |
| Gene Name |
Sh3kbp1 binding protein 1 |
| Synonyms |
SB1, B930062H15Rik |
| MMRRC Submission |
039135-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R1036 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
7 |
| Chromosomal Location |
27041558-27055444 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 27044721 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Proline
at position 457
(S457P)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000003857
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000003857]
|
| AlphaFold |
Q6P7W2 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000003857
AA Change: S457P
PolyPhen 2
Score 0.857 (Sensitivity: 0.83; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000003857
Gene: ENSMUSG00000089832
AA Change: S457P
| 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 |
noncoding transcript
Transcript: ENSMUST00000123190
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000132046
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000132684
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000140638
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000143239
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000148933
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000152053
|
| Meta Mutation Damage Score |
0.0888 |
| Coding Region Coverage |
- 1x: 98.9%
- 3x: 97.9%
- 10x: 94.7%
- 20x: 86.2%
|
| Validation Efficiency |
100% (40/40) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 38 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Aasdh |
G |
A |
5: 77,024,130 (GRCm39) |
T174M |
probably damaging |
Het |
| Abca12 |
A |
G |
1: 71,302,569 (GRCm39) |
|
probably null |
Het |
| Abcg1 |
C |
A |
17: 31,330,243 (GRCm39) |
Q515K |
probably damaging |
Het |
| Acaa1b |
A |
T |
9: 118,979,884 (GRCm39) |
|
probably benign |
Het |
| Adamts3 |
T |
C |
5: 89,843,952 (GRCm39) |
|
probably benign |
Het |
| Aoah |
A |
C |
13: 21,024,339 (GRCm39) |
|
probably benign |
Het |
| Arhgap10 |
G |
A |
8: 78,037,398 (GRCm39) |
P610L |
probably damaging |
Het |
| Casq2 |
G |
T |
3: 102,049,531 (GRCm39) |
A295S |
probably damaging |
Het |
| Col6a4 |
A |
G |
9: 105,945,397 (GRCm39) |
Y906H |
probably damaging |
Het |
| Dcaf13 |
T |
A |
15: 39,007,113 (GRCm39) |
I349N |
probably damaging |
Het |
| Ecd |
A |
G |
14: 20,383,386 (GRCm39) |
|
probably benign |
Het |
| Enpep |
C |
A |
3: 129,077,758 (GRCm39) |
V620L |
probably damaging |
Het |
| Fbln7 |
A |
G |
2: 128,735,815 (GRCm39) |
S268G |
possibly damaging |
Het |
| Fcho1 |
C |
T |
8: 72,165,204 (GRCm39) |
A418T |
probably benign |
Het |
| Gatd1 |
T |
A |
7: 140,989,045 (GRCm39) |
T205S |
probably damaging |
Het |
| Gbe1 |
T |
A |
16: 70,325,775 (GRCm39) |
V604E |
probably damaging |
Het |
| Ghsr |
T |
A |
3: 27,428,869 (GRCm39) |
I298N |
probably damaging |
Het |
| Glis1 |
T |
C |
4: 107,489,461 (GRCm39) |
Y683H |
probably benign |
Het |
| Gpr162 |
T |
A |
6: 124,837,823 (GRCm39) |
I276F |
probably damaging |
Het |
| Hps6 |
A |
G |
19: 45,992,680 (GRCm39) |
T206A |
probably benign |
Het |
| Kcnk10 |
T |
C |
12: 98,462,445 (GRCm39) |
|
probably benign |
Het |
| Krt90 |
A |
G |
15: 101,471,151 (GRCm39) |
V37A |
probably benign |
Het |
| Lmbr1 |
T |
C |
5: 29,463,745 (GRCm39) |
K160E |
probably damaging |
Het |
| Nif3l1 |
A |
G |
1: 58,487,032 (GRCm39) |
T73A |
probably damaging |
Het |
| Nup107 |
A |
T |
10: 117,593,199 (GRCm39) |
D826E |
probably damaging |
Het |
| Nup210l |
C |
T |
3: 90,100,247 (GRCm39) |
|
probably benign |
Het |
| Omd |
A |
G |
13: 49,743,447 (GRCm39) |
R166G |
probably damaging |
Het |
| Plekha4 |
T |
C |
7: 45,199,400 (GRCm39) |
|
probably benign |
Het |
| Ptgdr |
A |
G |
14: 45,096,572 (GRCm39) |
S47P |
probably damaging |
Het |
| Sec24c |
A |
G |
14: 20,742,965 (GRCm39) |
I940V |
probably benign |
Het |
| Skint1 |
T |
C |
4: 111,876,493 (GRCm39) |
V138A |
possibly damaging |
Het |
| Slc38a9 |
A |
G |
13: 112,838,193 (GRCm39) |
|
probably benign |
Het |
| Spata31e5 |
A |
G |
1: 28,816,883 (GRCm39) |
L383P |
probably benign |
Het |
| Srsf7 |
A |
T |
17: 80,513,266 (GRCm39) |
|
probably benign |
Het |
| Stau1 |
T |
C |
2: 166,793,235 (GRCm39) |
K300R |
probably damaging |
Het |
| Stox1 |
A |
T |
10: 62,503,674 (GRCm39) |
I127K |
probably damaging |
Het |
| Sympk |
G |
A |
7: 18,782,378 (GRCm39) |
R832Q |
probably damaging |
Het |
| Usp3 |
A |
G |
9: 66,437,513 (GRCm39) |
|
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 |
|
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'- CAGCTAACTAGGCAAGCAGAGGTC -3'
(R):5'- ACAACTCAAACCGCTTCAGGGG -3'
Sequencing Primer
(F):5'- AGGTCTACAGAGGCCAGTG -3'
(R):5'- AGCAGAATCTCCGGGCTTATG -3'
|
| Posted On |
2014-01-05 |
Incidental Mutation