Incidental Mutation 'R1563:Ehbp1'
| ID |
170768 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Ehbp1
|
| Ensembl Gene |
ENSMUSG00000042302 |
| Gene Name |
EH domain binding protein 1 |
| Synonyms |
Flj21950, KIAA0903-like |
| MMRRC Submission |
039602-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.829)
|
| Stock # |
R1563 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
11 |
| Chromosomal Location |
21955825-22237086 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 22009231 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Leucine to Proline
at position 954
(L954P)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000105191
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000045167]
[ENSMUST00000109563]
[ENSMUST00000180360]
|
| AlphaFold |
Q69ZW3 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000045167
AA Change: L929P
PolyPhen 2
Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000037489
Gene: ENSMUSG00000042302
AA Change: L929P
| 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 damaging
Transcript: ENSMUST00000109563
AA Change: L954P
PolyPhen 2
Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
|
| SMART Domains |
Protein: ENSMUSP00000105191
Gene: ENSMUSG00000042302
AA Change: L954P
| 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 damaging
Transcript: ENSMUST00000180360
AA Change: L929P
PolyPhen 2
Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000136697
Gene: ENSMUSG00000042302
AA Change: L929P
| 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 |
|
| Meta Mutation Damage Score |
0.1003 |
| Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.3%
- 10x: 96.2%
- 20x: 92.4%
|
| Validation Efficiency |
98% (82/84) |
| 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: 79 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4930519G04Rik |
T |
C |
5: 115,001,569 (GRCm39) |
M22T |
probably benign |
Het |
| A930018M24Rik |
A |
G |
14: 51,134,576 (GRCm39) |
L22P |
probably damaging |
Het |
| Aipl1 |
A |
T |
11: 71,927,538 (GRCm39) |
M59K |
probably damaging |
Het |
| Atg2b |
T |
C |
12: 105,589,747 (GRCm39) |
I1835V |
probably damaging |
Het |
| Cacna1i |
A |
T |
15: 80,274,056 (GRCm39) |
|
probably benign |
Het |
| Cacna1i |
T |
C |
15: 80,205,389 (GRCm39) |
V115A |
probably damaging |
Het |
| Catsperb |
T |
A |
12: 101,554,361 (GRCm39) |
M685K |
probably damaging |
Het |
| Cdh10 |
T |
A |
15: 18,986,853 (GRCm39) |
Y361* |
probably null |
Het |
| Clcn4 |
C |
T |
7: 7,296,981 (GRCm39) |
C219Y |
probably damaging |
Het |
| Cpeb2 |
G |
A |
5: 43,443,080 (GRCm39) |
V924M |
probably damaging |
Het |
| Cpxm2 |
T |
C |
7: 131,745,411 (GRCm39) |
E138G |
probably benign |
Het |
| Dennd1a |
T |
C |
2: 37,748,441 (GRCm39) |
Y346C |
probably damaging |
Het |
| Dnah8 |
T |
A |
17: 30,854,638 (GRCm39) |
L100Q |
probably benign |
Het |
| Dnajc6 |
A |
C |
4: 101,456,334 (GRCm39) |
N76T |
probably damaging |
Het |
| Eral1 |
A |
T |
11: 77,966,232 (GRCm39) |
D315E |
probably benign |
Het |
| Fbln2 |
G |
T |
6: 91,240,365 (GRCm39) |
E724* |
probably null |
Het |
| Fyco1 |
A |
G |
9: 123,656,247 (GRCm39) |
|
probably benign |
Het |
| Fzd3 |
T |
A |
14: 65,473,173 (GRCm39) |
E198D |
probably damaging |
Het |
| Fzd9 |
T |
C |
5: 135,279,408 (GRCm39) |
N159S |
probably damaging |
Het |
| Galnt6 |
T |
A |
15: 100,601,259 (GRCm39) |
Q340L |
probably benign |
Het |
| Gm20939 |
C |
T |
17: 95,184,522 (GRCm39) |
A390V |
probably damaging |
Het |
| Gm5435 |
T |
G |
12: 82,542,464 (GRCm39) |
|
noncoding transcript |
Het |
| Gm9949 |
A |
C |
18: 62,317,089 (GRCm39) |
|
probably benign |
Het |
| Gprc5b |
G |
A |
7: 118,582,984 (GRCm39) |
T295I |
probably benign |
Het |
| Gria2 |
G |
T |
3: 80,598,704 (GRCm39) |
Q777K |
probably damaging |
Het |
| Gtf3c3 |
C |
T |
1: 54,456,937 (GRCm39) |
A488T |
probably damaging |
Het |
| Haao |
T |
C |
17: 84,142,318 (GRCm39) |
T174A |
probably benign |
Het |
| Hes6 |
A |
T |
1: 91,340,858 (GRCm39) |
M1K |
probably null |
Het |
| Hook3 |
G |
T |
8: 26,600,780 (GRCm39) |
Q43K |
probably benign |
Het |
| Klhl35 |
T |
C |
7: 99,120,902 (GRCm39) |
V390A |
probably damaging |
Het |
| Myh9 |
G |
T |
15: 77,656,057 (GRCm39) |
T1151K |
probably damaging |
Het |
| Nbn |
A |
T |
4: 15,981,668 (GRCm39) |
I587F |
possibly damaging |
Het |
| Nek4 |
A |
G |
14: 30,704,408 (GRCm39) |
D696G |
probably damaging |
Het |
| Niban1 |
A |
T |
1: 151,591,424 (GRCm39) |
Y522F |
possibly damaging |
Het |
| Nlrp2 |
T |
C |
7: 5,311,724 (GRCm39) |
D52G |
probably damaging |
Het |
| Oit3 |
G |
T |
10: 59,263,896 (GRCm39) |
R413S |
probably damaging |
Het |
| Or4k48 |
T |
A |
2: 111,476,027 (GRCm39) |
H105L |
probably damaging |
Het |
| Or6c1b |
A |
G |
10: 129,273,580 (GRCm39) |
M300V |
probably benign |
Het |
| Otof |
T |
C |
5: 30,528,349 (GRCm39) |
T1870A |
probably benign |
Het |
| Pdgfd |
T |
C |
9: 6,293,939 (GRCm39) |
|
probably null |
Het |
| Pitrm1 |
T |
C |
13: 6,613,506 (GRCm39) |
V526A |
possibly damaging |
Het |
| Pknox1 |
T |
C |
17: 31,814,256 (GRCm39) |
S194P |
probably damaging |
Het |
| Plekhg5 |
T |
C |
4: 152,181,266 (GRCm39) |
S8P |
probably benign |
Het |
| Ppp1r13b |
T |
C |
12: 111,807,416 (GRCm39) |
E157G |
probably damaging |
Het |
| Psmd3 |
C |
T |
11: 98,585,051 (GRCm39) |
R466W |
probably damaging |
Het |
| Ptgfrn |
A |
G |
3: 100,967,967 (GRCm39) |
F542S |
possibly damaging |
Het |
| Ptgs1 |
A |
T |
2: 36,135,214 (GRCm39) |
M393L |
possibly damaging |
Het |
| Qpct |
T |
A |
17: 79,371,492 (GRCm39) |
S87T |
probably benign |
Het |
| Qtrt1 |
T |
A |
9: 21,330,607 (GRCm39) |
V269D |
probably benign |
Het |
| Rassf9 |
C |
G |
10: 102,380,821 (GRCm39) |
R68G |
probably damaging |
Het |
| Relch |
A |
G |
1: 105,647,259 (GRCm39) |
Y707C |
probably damaging |
Het |
| Rif1 |
A |
G |
2: 51,963,235 (GRCm39) |
E25G |
probably damaging |
Het |
| Rnf213 |
T |
C |
11: 119,305,352 (GRCm39) |
F528L |
probably benign |
Het |
| Sgip1 |
T |
C |
4: 102,823,457 (GRCm39) |
S693P |
probably benign |
Het |
| She |
A |
G |
3: 89,761,921 (GRCm39) |
D460G |
probably benign |
Het |
| Sipa1l1 |
G |
T |
12: 82,387,935 (GRCm39) |
V54L |
probably benign |
Het |
| Slc8a3 |
T |
A |
12: 81,251,781 (GRCm39) |
D640V |
possibly damaging |
Het |
| Smurf1 |
T |
A |
5: 144,819,323 (GRCm39) |
E601D |
probably damaging |
Het |
| Sned1 |
G |
A |
1: 93,209,376 (GRCm39) |
V830M |
possibly damaging |
Het |
| Synpo2l |
A |
G |
14: 20,711,346 (GRCm39) |
S425P |
probably damaging |
Het |
| Tbck |
T |
C |
3: 132,421,454 (GRCm39) |
V187A |
possibly damaging |
Het |
| Tcf23 |
A |
T |
5: 31,126,175 (GRCm39) |
H18L |
probably benign |
Het |
| Tcp11l2 |
A |
G |
10: 84,420,808 (GRCm39) |
S16G |
probably damaging |
Het |
| Tekt2 |
T |
A |
4: 126,217,200 (GRCm39) |
M233L |
probably benign |
Het |
| Tex14 |
T |
C |
11: 87,427,634 (GRCm39) |
S29P |
probably damaging |
Het |
| Tjp2 |
T |
A |
19: 24,110,067 (GRCm39) |
N59I |
probably damaging |
Het |
| Tlr5 |
G |
A |
1: 182,802,575 (GRCm39) |
M626I |
probably benign |
Het |
| Tnn |
A |
T |
1: 159,952,985 (GRCm39) |
V685D |
probably damaging |
Het |
| Trappc9 |
G |
A |
15: 72,897,816 (GRCm39) |
R377W |
probably damaging |
Het |
| Trhr |
G |
A |
15: 44,060,497 (GRCm39) |
V6I |
probably benign |
Het |
| Trim30c |
C |
T |
7: 104,032,158 (GRCm39) |
R301Q |
probably benign |
Het |
| Usp51 |
T |
C |
X: 151,790,988 (GRCm39) |
I194T |
probably benign |
Het |
| Vmn2r63 |
A |
G |
7: 42,553,550 (GRCm39) |
S569P |
probably benign |
Het |
| Vps26a |
T |
G |
10: 62,300,459 (GRCm39) |
I236L |
probably benign |
Het |
| Zc3h7b |
C |
T |
15: 81,661,289 (GRCm39) |
P376L |
probably benign |
Het |
| Zcchc14 |
T |
C |
8: 122,330,718 (GRCm39) |
M882V |
probably benign |
Het |
| Zfhx2 |
A |
G |
14: 55,302,545 (GRCm39) |
V1813A |
probably benign |
Het |
| Zswim2 |
C |
T |
2: 83,745,626 (GRCm39) |
G604D |
possibly damaging |
Het |
| Zzef1 |
C |
T |
11: 72,739,559 (GRCm39) |
Q669* |
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 |
|
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 |
|
R5979:Ehbp1
|
UTSW |
11 |
22,101,887 (GRCm39) |
missense |
probably benign |
0.06 |
|
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'- TCAATCACACTGCCATCCTCAGGTATG -3'
(R):5'- AACAGCTCTCTGAGTGTCTTAGCCCC -3'
Sequencing Primer
(F):5'- GAAACAGCACTAACTGGTGTTC -3'
(R):5'- GAGTGTCTTAGCCCCAGTGTC -3'
|
| Posted On |
2014-04-13 |
Incidental Mutation