Incidental Mutation 'R5979:Ehbp1'
| ID |
481323 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Ehbp1
|
| Ensembl Gene |
ENSMUSG00000042302 |
| Gene Name |
EH domain binding protein 1 |
| Synonyms |
Flj21950, KIAA0903-like |
| MMRRC Submission |
044161-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.829)
|
| Stock # |
R5979 (G1)
|
| Quality Score |
198.009 |
|
Status
|
Validated
|
| Chromosome |
11 |
| Chromosomal Location |
21955825-22237086 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to A
at 22101887 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Leucine
at position 214
(V214L)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000136697
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000045167]
[ENSMUST00000109563]
[ENSMUST00000134293]
[ENSMUST00000180360]
|
| AlphaFold |
Q69ZW3 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000045167
AA Change: V214L
PolyPhen 2
Score 0.064 (Sensitivity: 0.94; Specificity: 0.84)
|
| SMART Domains |
Protein: ENSMUSP00000037489
Gene: ENSMUSG00000042302
AA Change: V214L
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:NT-C2
|
12 |
165 |
3.8e-32 |
PFAM |
|
Blast:DUF3585
|
176 |
285 |
7e-6 |
BLAST |
|
low complexity region
|
332 |
343 |
N/A |
INTRINSIC |
|
low complexity region
|
374 |
392 |
N/A |
INTRINSIC |
|
low complexity region
|
411 |
422 |
N/A |
INTRINSIC |
|
CH
|
430 |
528 |
1.42e-15 |
SMART |
|
Blast:CH
|
757 |
826 |
3e-12 |
BLAST |
|
low complexity region
|
829 |
850 |
N/A |
INTRINSIC |
|
low complexity region
|
883 |
898 |
N/A |
INTRINSIC |
|
DUF3585
|
1043 |
1187 |
4.25e-61 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000109563
AA Change: V214L
PolyPhen 2
Score 0.064 (Sensitivity: 0.94; Specificity: 0.84)
|
| SMART Domains |
Protein: ENSMUSP00000105191
Gene: ENSMUSG00000042302
AA Change: V214L
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:NT-C2
|
12 |
165 |
1.3e-29 |
PFAM |
|
Blast:DUF3585
|
176 |
285 |
7e-6 |
BLAST |
|
low complexity region
|
357 |
368 |
N/A |
INTRINSIC |
|
low complexity region
|
399 |
417 |
N/A |
INTRINSIC |
|
low complexity region
|
436 |
447 |
N/A |
INTRINSIC |
|
CH
|
455 |
553 |
1.42e-15 |
SMART |
|
Blast:CH
|
782 |
851 |
3e-12 |
BLAST |
|
low complexity region
|
854 |
875 |
N/A |
INTRINSIC |
|
low complexity region
|
908 |
923 |
N/A |
INTRINSIC |
|
DUF3585
|
1068 |
1212 |
4.25e-61 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000134293
|
| SMART Domains |
Protein: ENSMUSP00000118583
Gene: ENSMUSG00000042302
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:NT-C2
|
12 |
165 |
3.5e-33 |
PFAM |
|
low complexity region
|
185 |
205 |
N/A |
INTRINSIC |
|
Blast:DUF3585
|
206 |
250 |
4e-18 |
BLAST |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000152372
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000180360
AA Change: V214L
PolyPhen 2
Score 0.064 (Sensitivity: 0.94; Specificity: 0.84)
|
| SMART Domains |
Protein: ENSMUSP00000136697
Gene: ENSMUSG00000042302
AA Change: V214L
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:NT-C2
|
12 |
165 |
3.8e-32 |
PFAM |
|
Blast:DUF3585
|
176 |
285 |
7e-6 |
BLAST |
|
low complexity region
|
332 |
343 |
N/A |
INTRINSIC |
|
low complexity region
|
374 |
392 |
N/A |
INTRINSIC |
|
low complexity region
|
411 |
422 |
N/A |
INTRINSIC |
|
CH
|
430 |
528 |
1.42e-15 |
SMART |
|
Blast:CH
|
757 |
826 |
3e-12 |
BLAST |
|
low complexity region
|
829 |
850 |
N/A |
INTRINSIC |
|
low complexity region
|
883 |
898 |
N/A |
INTRINSIC |
|
DUF3585
|
1043 |
1187 |
4.25e-61 |
SMART |
|
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.6%
- 10x: 98.4%
- 20x: 95.4%
|
| Validation Efficiency |
100% (87/87) |
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes an Eps15 homology domain binding protein. The encoded protein may play a role in endocytic trafficking. A single nucleotide polymorphism in this gene is associated with an aggressive form of prostate cancer. Alternate splicing results in multiple transcript variants. [provided by RefSeq, Feb 2010]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 85 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acss2 |
A |
G |
2: 155,364,029 (GRCm39) |
I103V |
possibly damaging |
Het |
| Adam3 |
T |
C |
8: 25,167,383 (GRCm39) |
N36S |
probably benign |
Het |
| Adamts3 |
A |
G |
5: 90,009,528 (GRCm39) |
V45A |
probably damaging |
Het |
| Afg3l2 |
G |
T |
18: 67,554,329 (GRCm39) |
L458M |
probably damaging |
Het |
| Agtpbp1 |
A |
T |
13: 59,681,860 (GRCm39) |
L69* |
probably null |
Het |
| Alkbh5 |
T |
A |
11: 60,429,517 (GRCm39) |
I90N |
probably damaging |
Het |
| Alx1 |
T |
C |
10: 102,858,120 (GRCm39) |
Y193C |
probably damaging |
Het |
| Ankrd11 |
T |
G |
8: 123,619,139 (GRCm39) |
D1571A |
probably damaging |
Het |
| Brd4 |
T |
C |
17: 32,417,700 (GRCm39) |
D124G |
probably benign |
Het |
| C2cd2 |
G |
A |
16: 97,676,418 (GRCm39) |
T443I |
probably benign |
Het |
| Casp8 |
A |
T |
1: 58,868,071 (GRCm39) |
M171L |
probably benign |
Het |
| Cd200r4 |
G |
A |
16: 44,653,295 (GRCm39) |
V22I |
probably benign |
Het |
| Cdcp2 |
A |
G |
4: 106,962,478 (GRCm39) |
Y217C |
probably damaging |
Het |
| Cfh |
C |
A |
1: 140,046,409 (GRCm39) |
V556F |
possibly damaging |
Het |
| Chka |
T |
G |
19: 3,934,513 (GRCm39) |
I182M |
probably damaging |
Het |
| Cope |
T |
C |
8: 70,755,193 (GRCm39) |
|
probably null |
Het |
| Coq10b |
T |
C |
1: 55,092,077 (GRCm39) |
V15A |
probably benign |
Het |
| Cpne9 |
T |
A |
6: 113,270,710 (GRCm39) |
S309T |
probably benign |
Het |
| Daam2 |
T |
A |
17: 49,766,232 (GRCm39) |
H992L |
possibly damaging |
Het |
| Dctn3 |
T |
C |
4: 41,715,393 (GRCm39) |
|
probably null |
Het |
| Dhx35 |
G |
T |
2: 158,684,789 (GRCm39) |
R536L |
probably benign |
Het |
| Dnah8 |
G |
T |
17: 31,034,638 (GRCm39) |
E4186* |
probably null |
Het |
| Dnah9 |
A |
G |
11: 65,725,307 (GRCm39) |
L4282P |
probably damaging |
Het |
| Dpp10 |
A |
G |
1: 123,312,012 (GRCm39) |
|
probably null |
Het |
| Dst |
T |
A |
1: 34,199,453 (GRCm39) |
|
probably benign |
Het |
| Fam131b |
T |
C |
6: 42,298,905 (GRCm39) |
D25G |
probably damaging |
Het |
| Fbxl13 |
T |
A |
5: 21,787,089 (GRCm39) |
I283F |
probably damaging |
Het |
| Gabrr3 |
T |
G |
16: 59,254,931 (GRCm39) |
N205K |
possibly damaging |
Het |
| Got1l1 |
C |
T |
8: 27,687,951 (GRCm39) |
|
probably null |
Het |
| Gprin1 |
G |
A |
13: 54,887,791 (GRCm39) |
A161V |
probably benign |
Het |
| Hepacam2 |
A |
T |
6: 3,476,149 (GRCm39) |
F183I |
probably damaging |
Het |
| Hmx2 |
A |
G |
7: 131,156,279 (GRCm39) |
T82A |
probably benign |
Het |
| Igsf10 |
C |
T |
3: 59,243,894 (GRCm39) |
E147K |
probably damaging |
Het |
| Kndc1 |
G |
A |
7: 139,519,740 (GRCm39) |
A1700T |
probably benign |
Het |
| Knl1 |
T |
C |
2: 118,899,841 (GRCm39) |
V514A |
possibly damaging |
Het |
| Lama2 |
T |
C |
10: 27,111,728 (GRCm39) |
D764G |
probably damaging |
Het |
| Lgi3 |
G |
A |
14: 70,773,900 (GRCm39) |
R358H |
probably damaging |
Het |
| Limd1 |
G |
T |
9: 123,308,479 (GRCm39) |
Q59H |
possibly damaging |
Het |
| Lrrk2 |
A |
G |
15: 91,657,148 (GRCm39) |
Y1814C |
possibly damaging |
Het |
| Lysmd3 |
G |
A |
13: 81,813,393 (GRCm39) |
|
probably null |
Het |
| Mroh7 |
T |
C |
4: 106,578,123 (GRCm39) |
N185S |
probably benign |
Het |
| Muc2 |
G |
A |
7: 141,305,143 (GRCm39) |
G149D |
probably damaging |
Het |
| Muc2 |
A |
G |
7: 141,283,493 (GRCm39) |
|
probably null |
Het |
| Nlrp3 |
T |
C |
11: 59,439,797 (GRCm39) |
F458S |
probably benign |
Het |
| Nop58 |
A |
T |
1: 59,741,990 (GRCm39) |
D173V |
probably damaging |
Het |
| Nrxn1 |
C |
T |
17: 91,395,631 (GRCm39) |
R175H |
possibly damaging |
Het |
| Nxpe4 |
A |
G |
9: 48,307,862 (GRCm39) |
N322S |
probably benign |
Het |
| Ocstamp |
A |
G |
2: 165,239,467 (GRCm39) |
S240P |
probably damaging |
Het |
| Or10a5 |
G |
A |
7: 106,635,543 (GRCm39) |
M60I |
probably damaging |
Het |
| Or2j3 |
T |
C |
17: 38,616,083 (GRCm39) |
K90E |
probably benign |
Het |
| Or8b36 |
ATTGCTGTTT |
ATTGCTGTTTGCTGTTT |
9: 37,937,836 (GRCm39) |
|
probably null |
Het |
| Or9e1 |
A |
G |
11: 58,732,666 (GRCm39) |
H242R |
probably damaging |
Het |
| Ovch2 |
G |
A |
7: 107,393,595 (GRCm39) |
T177I |
possibly damaging |
Het |
| Parn |
A |
C |
16: 13,424,035 (GRCm39) |
L454R |
probably damaging |
Het |
| Pcdhb12 |
T |
A |
18: 37,571,044 (GRCm39) |
L730Q |
possibly damaging |
Het |
| Phf3 |
G |
T |
1: 30,844,827 (GRCm39) |
F1377L |
probably damaging |
Het |
| Pign |
G |
T |
1: 105,516,999 (GRCm39) |
S542R |
probably benign |
Het |
| Prex2 |
G |
T |
1: 11,202,596 (GRCm39) |
V502F |
probably damaging |
Het |
| Psmd1 |
A |
T |
1: 86,017,775 (GRCm39) |
I529F |
possibly damaging |
Het |
| Ptafr |
A |
G |
4: 132,306,616 (GRCm39) |
E2G |
probably benign |
Het |
| R3hdm1 |
A |
G |
1: 128,138,960 (GRCm39) |
N380S |
probably benign |
Het |
| Rbm12 |
A |
C |
2: 155,939,679 (GRCm39) |
|
probably benign |
Het |
| Rgl1 |
A |
G |
1: 152,433,244 (GRCm39) |
Y174H |
probably damaging |
Het |
| Rps6kc1 |
A |
G |
1: 190,532,632 (GRCm39) |
S457P |
probably damaging |
Het |
| Sall4 |
A |
T |
2: 168,592,263 (GRCm39) |
S964T |
probably benign |
Het |
| Sart1 |
T |
A |
19: 5,431,251 (GRCm39) |
I681F |
probably damaging |
Het |
| Serinc5 |
T |
C |
13: 92,797,644 (GRCm39) |
L49P |
probably benign |
Het |
| Serpinb9e |
T |
C |
13: 33,439,036 (GRCm39) |
V154A |
probably benign |
Het |
| Skic2 |
A |
T |
17: 35,060,439 (GRCm39) |
N851K |
probably benign |
Het |
| Smox |
G |
A |
2: 131,358,334 (GRCm39) |
V136I |
probably damaging |
Het |
| Sspo |
C |
T |
6: 48,440,627 (GRCm39) |
T1747I |
probably benign |
Het |
| Swt1 |
A |
T |
1: 151,283,339 (GRCm39) |
D339E |
possibly damaging |
Het |
| Synpo2 |
A |
G |
3: 122,911,060 (GRCm39) |
L195P |
probably damaging |
Het |
| Syt7 |
G |
T |
19: 10,420,843 (GRCm39) |
G414W |
probably damaging |
Het |
| Tmem186 |
G |
A |
16: 8,454,024 (GRCm39) |
T79I |
probably damaging |
Het |
| Tmem39a |
A |
T |
16: 38,396,106 (GRCm39) |
N113I |
probably damaging |
Het |
| Trim14 |
C |
T |
4: 46,507,239 (GRCm39) |
V326M |
probably damaging |
Het |
| Trim58 |
A |
G |
11: 58,536,909 (GRCm39) |
E234G |
probably damaging |
Het |
| Ttr |
T |
C |
18: 20,803,059 (GRCm39) |
L75P |
probably damaging |
Het |
| Ubr1 |
C |
T |
2: 120,776,863 (GRCm39) |
V293I |
probably benign |
Het |
| Vmn1r91 |
T |
A |
7: 19,835,990 (GRCm39) |
V303E |
probably benign |
Het |
| Vmn2r30 |
A |
C |
7: 7,315,334 (GRCm39) |
I833S |
probably damaging |
Het |
| Zfp131 |
G |
T |
13: 120,237,982 (GRCm39) |
N125K |
probably benign |
Het |
| Zfp169 |
A |
T |
13: 48,644,516 (GRCm39) |
|
probably benign |
Het |
| Zfp213 |
C |
A |
17: 23,776,885 (GRCm39) |
E386* |
probably null |
Het |
|
| Other mutations in Ehbp1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00754:Ehbp1
|
APN |
11 |
22,197,967 (GRCm39) |
splice site |
probably benign |
|
|
IGL00786:Ehbp1
|
APN |
11 |
22,050,460 (GRCm39) |
missense |
possibly damaging |
0.79 |
|
IGL01308:Ehbp1
|
APN |
11 |
22,088,022 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01322:Ehbp1
|
APN |
11 |
22,039,636 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01590:Ehbp1
|
APN |
11 |
22,045,611 (GRCm39) |
missense |
possibly damaging |
0.91 |
|
IGL01611:Ehbp1
|
APN |
11 |
22,122,883 (GRCm39) |
missense |
probably damaging |
0.98 |
|
IGL01636:Ehbp1
|
APN |
11 |
22,039,584 (GRCm39) |
missense |
probably benign |
0.03 |
|
IGL01728:Ehbp1
|
APN |
11 |
22,051,115 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02012:Ehbp1
|
APN |
11 |
22,051,218 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02034:Ehbp1
|
APN |
11 |
22,235,486 (GRCm39) |
critical splice donor site |
probably null |
|
|
IGL02324:Ehbp1
|
APN |
11 |
22,046,048 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02511:Ehbp1
|
APN |
11 |
22,039,653 (GRCm39) |
missense |
probably damaging |
1.00 |
|
trajan
|
UTSW |
11 |
22,101,850 (GRCm39) |
missense |
probably damaging |
1.00 |
|
K7894:Ehbp1
|
UTSW |
11 |
22,039,683 (GRCm39) |
splice site |
probably benign |
|
|
PIT4418001:Ehbp1
|
UTSW |
11 |
22,003,494 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0218:Ehbp1
|
UTSW |
11 |
22,181,992 (GRCm39) |
splice site |
probably benign |
|
|
R0294:Ehbp1
|
UTSW |
11 |
22,045,427 (GRCm39) |
missense |
probably benign |
0.27 |
|
R0398:Ehbp1
|
UTSW |
11 |
22,045,886 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R0420:Ehbp1
|
UTSW |
11 |
22,101,836 (GRCm39) |
missense |
probably benign |
|
|
R0468:Ehbp1
|
UTSW |
11 |
22,119,184 (GRCm39) |
splice site |
probably benign |
|
|
R0943:Ehbp1
|
UTSW |
11 |
22,045,883 (GRCm39) |
missense |
probably benign |
0.12 |
|
R1181:Ehbp1
|
UTSW |
11 |
22,012,831 (GRCm39) |
missense |
probably benign |
0.25 |
|
R1481:Ehbp1
|
UTSW |
11 |
21,956,782 (GRCm39) |
makesense |
probably null |
|
|
R1493:Ehbp1
|
UTSW |
11 |
21,956,866 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1563:Ehbp1
|
UTSW |
11 |
22,009,231 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1648:Ehbp1
|
UTSW |
11 |
22,046,000 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1656:Ehbp1
|
UTSW |
11 |
22,096,694 (GRCm39) |
missense |
probably benign |
|
|
R1696:Ehbp1
|
UTSW |
11 |
22,003,441 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R1923:Ehbp1
|
UTSW |
11 |
22,101,850 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1950:Ehbp1
|
UTSW |
11 |
22,009,228 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2263:Ehbp1
|
UTSW |
11 |
22,045,462 (GRCm39) |
missense |
probably benign |
|
|
R2436:Ehbp1
|
UTSW |
11 |
22,039,524 (GRCm39) |
critical splice donor site |
probably null |
|
|
R3148:Ehbp1
|
UTSW |
11 |
22,050,465 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3973:Ehbp1
|
UTSW |
11 |
22,087,867 (GRCm39) |
missense |
probably benign |
0.00 |
|
R3974:Ehbp1
|
UTSW |
11 |
22,087,867 (GRCm39) |
missense |
probably benign |
0.00 |
|
R4030:Ehbp1
|
UTSW |
11 |
22,235,498 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4085:Ehbp1
|
UTSW |
11 |
22,045,898 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R4089:Ehbp1
|
UTSW |
11 |
22,045,898 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R4524:Ehbp1
|
UTSW |
11 |
22,101,843 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4641:Ehbp1
|
UTSW |
11 |
22,045,892 (GRCm39) |
missense |
probably benign |
0.00 |
|
R4873:Ehbp1
|
UTSW |
11 |
22,051,164 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4875:Ehbp1
|
UTSW |
11 |
22,051,164 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4914:Ehbp1
|
UTSW |
11 |
22,096,592 (GRCm39) |
missense |
probably benign |
0.20 |
|
R4915:Ehbp1
|
UTSW |
11 |
22,096,592 (GRCm39) |
missense |
probably benign |
0.20 |
|
R4916:Ehbp1
|
UTSW |
11 |
22,096,592 (GRCm39) |
missense |
probably benign |
0.20 |
|
R4917:Ehbp1
|
UTSW |
11 |
22,096,592 (GRCm39) |
missense |
probably benign |
0.20 |
|
R4918:Ehbp1
|
UTSW |
11 |
22,096,592 (GRCm39) |
missense |
probably benign |
0.20 |
|
R4929:Ehbp1
|
UTSW |
11 |
22,189,169 (GRCm39) |
missense |
possibly damaging |
0.48 |
|
R4995:Ehbp1
|
UTSW |
11 |
22,051,073 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5325:Ehbp1
|
UTSW |
11 |
22,045,370 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
R5579:Ehbp1
|
UTSW |
11 |
22,087,846 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6025:Ehbp1
|
UTSW |
11 |
22,189,156 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6259:Ehbp1
|
UTSW |
11 |
22,235,684 (GRCm39) |
start gained |
probably benign |
|
|
R6685:Ehbp1
|
UTSW |
11 |
22,096,641 (GRCm39) |
missense |
probably benign |
0.01 |
|
R6893:Ehbp1
|
UTSW |
11 |
21,964,945 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7127:Ehbp1
|
UTSW |
11 |
22,003,529 (GRCm39) |
nonsense |
probably null |
|
|
R7465:Ehbp1
|
UTSW |
11 |
22,088,001 (GRCm39) |
missense |
probably benign |
|
|
R7722:Ehbp1
|
UTSW |
11 |
22,039,572 (GRCm39) |
missense |
probably null |
|
|
R7724:Ehbp1
|
UTSW |
11 |
22,039,572 (GRCm39) |
missense |
probably null |
|
|
R7797:Ehbp1
|
UTSW |
11 |
22,046,109 (GRCm39) |
missense |
possibly damaging |
0.79 |
|
R7868:Ehbp1
|
UTSW |
11 |
22,096,542 (GRCm39) |
nonsense |
probably null |
|
|
R8088:Ehbp1
|
UTSW |
11 |
22,039,572 (GRCm39) |
missense |
probably null |
|
|
R8218:Ehbp1
|
UTSW |
11 |
22,046,096 (GRCm39) |
missense |
possibly damaging |
0.77 |
|
R8235:Ehbp1
|
UTSW |
11 |
22,189,153 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8267:Ehbp1
|
UTSW |
11 |
22,096,562 (GRCm39) |
missense |
probably benign |
0.02 |
|
R8318:Ehbp1
|
UTSW |
11 |
22,087,980 (GRCm39) |
missense |
probably benign |
0.05 |
|
R8334:Ehbp1
|
UTSW |
11 |
21,957,170 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8425:Ehbp1
|
UTSW |
11 |
21,963,495 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8439:Ehbp1
|
UTSW |
11 |
22,046,109 (GRCm39) |
missense |
possibly damaging |
0.79 |
|
R8493:Ehbp1
|
UTSW |
11 |
22,235,842 (GRCm39) |
start gained |
probably benign |
|
|
R8745:Ehbp1
|
UTSW |
11 |
22,119,064 (GRCm39) |
missense |
possibly damaging |
0.78 |
|
R8824:Ehbp1
|
UTSW |
11 |
22,182,053 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R8964:Ehbp1
|
UTSW |
11 |
22,101,154 (GRCm39) |
nonsense |
probably null |
|
|
R8987:Ehbp1
|
UTSW |
11 |
22,003,531 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9144:Ehbp1
|
UTSW |
11 |
22,018,463 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9187:Ehbp1
|
UTSW |
11 |
22,101,184 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R9448:Ehbp1
|
UTSW |
11 |
22,087,881 (GRCm39) |
missense |
probably benign |
|
|
R9549:Ehbp1
|
UTSW |
11 |
22,012,788 (GRCm39) |
missense |
probably benign |
0.44 |
|
R9612:Ehbp1
|
UTSW |
11 |
22,119,124 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R9645:Ehbp1
|
UTSW |
11 |
22,051,052 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9678:Ehbp1
|
UTSW |
11 |
22,101,108 (GRCm39) |
missense |
possibly damaging |
0.89 |
|
R9745:Ehbp1
|
UTSW |
11 |
22,096,692 (GRCm39) |
missense |
probably benign |
0.19 |
|
RF016:Ehbp1
|
UTSW |
11 |
22,096,646 (GRCm39) |
missense |
probably benign |
|
|
RF037:Ehbp1
|
UTSW |
11 |
21,956,783 (GRCm39) |
small deletion |
probably benign |
|
|
X0018:Ehbp1
|
UTSW |
11 |
22,051,085 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Z1176:Ehbp1
|
UTSW |
11 |
22,045,590 (GRCm39) |
missense |
probably benign |
0.03 |
|
| Predicted Primers |
PCR Primer
(F):5'- GGTGCACTACAAATTACCAGAGAG -3'
(R):5'- GCAGTAATGCCCAGTTATTTACC -3'
Sequencing Primer
(F):5'- CTGACAGCTAAGCAGACAGAAGTC -3'
(R):5'- TGCCCAGTTATTTACCTTTGTTATAG -3'
|
| Posted On |
2017-06-26 |
Incidental Mutation