Incidental Mutation 'R2763:Shkbp1'
| ID |
254154 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Shkbp1
|
| Ensembl Gene |
ENSMUSG00000089832 |
| Gene Name |
Sh3kbp1 binding protein 1 |
| Synonyms |
SB1, B930062H15Rik |
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R2763 (G1)
|
| Quality Score |
189 |
|
Status
|
Not validated
|
| Chromosome |
7 |
| Chromosomal Location |
27041558-27055444 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 27046454 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Methionine to Leucine
at position 437
(M437L)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000003857
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000003857]
|
| AlphaFold |
Q6P7W2 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000003857
AA Change: M437L
PolyPhen 2
Score 0.050 (Sensitivity: 0.94; Specificity: 0.83)
|
| SMART Domains |
Protein: ENSMUSP00000003857
Gene: ENSMUSG00000089832
AA Change: M437L
| 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: ENSMUST00000136589
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000138449
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000140638
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000152053
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000143239
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000148933
|
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.4%
- 20x: 95.6%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 23 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| A4galt |
T |
A |
15: 83,111,871 (GRCm39) |
D304V |
probably benign |
Het |
| Ablim3 |
T |
A |
18: 61,946,615 (GRCm39) |
K516* |
probably null |
Het |
| Akap11 |
A |
G |
14: 78,756,332 (GRCm39) |
F22S |
probably damaging |
Het |
| Alg11 |
C |
A |
8: 22,558,095 (GRCm39) |
A469E |
probably benign |
Het |
| Ano7 |
A |
G |
1: 93,326,908 (GRCm39) |
|
probably null |
Het |
| Apol9a |
T |
C |
15: 77,288,617 (GRCm39) |
E250G |
probably benign |
Het |
| Calcrl |
T |
C |
2: 84,200,847 (GRCm39) |
R66G |
probably damaging |
Het |
| Camta2 |
G |
A |
11: 70,573,356 (GRCm39) |
Q187* |
probably null |
Het |
| Cd177 |
G |
A |
7: 24,457,462 (GRCm39) |
A193V |
probably benign |
Het |
| Cdk5rap2 |
A |
G |
4: 70,199,508 (GRCm39) |
V872A |
probably benign |
Het |
| Cebpz |
A |
G |
17: 79,243,358 (GRCm39) |
S99P |
probably benign |
Het |
| Cmtr1 |
G |
A |
17: 29,899,602 (GRCm39) |
E632K |
possibly damaging |
Het |
| Dysf |
A |
T |
6: 84,083,914 (GRCm39) |
H782L |
probably benign |
Het |
| Fem1a |
A |
G |
17: 56,564,537 (GRCm39) |
E210G |
probably benign |
Het |
| Golga3 |
T |
C |
5: 110,352,761 (GRCm39) |
I884T |
possibly damaging |
Het |
| Gstm6 |
G |
A |
3: 107,848,358 (GRCm39) |
T173M |
possibly damaging |
Het |
| Pcdhgb8 |
T |
A |
18: 37,895,315 (GRCm39) |
N128K |
probably damaging |
Het |
| Phkg2 |
A |
G |
7: 127,179,005 (GRCm39) |
E139G |
probably benign |
Het |
| Sdk1 |
T |
A |
5: 142,070,306 (GRCm39) |
V1157E |
possibly damaging |
Het |
| Septin9 |
C |
T |
11: 117,217,327 (GRCm39) |
T6I |
probably benign |
Het |
| Svep1 |
A |
G |
4: 58,084,061 (GRCm39) |
C1904R |
possibly damaging |
Het |
| Ulk1 |
C |
T |
5: 110,937,223 (GRCm39) |
R691Q |
probably benign |
Het |
| Zfp646 |
T |
A |
7: 127,479,210 (GRCm39) |
C242* |
probably null |
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 |
|
|
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'- AGCCTGGTTCCCTTACTATAAGC -3'
(R):5'- CCGGTGTCAGATTCTCTGTG -3'
Sequencing Primer
(F):5'- CCTTAGAGCTATGCTAAGCAAGTGC -3'
(R):5'- AGATTCTCTGTGTGTCTGTCC -3'
|
| Posted On |
2014-12-04 |
Incidental Mutation