Incidental Mutation 'R4995:Ehbp1'
| ID |
385192 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Ehbp1
|
| Ensembl Gene |
ENSMUSG00000042302 |
| Gene Name |
EH domain binding protein 1 |
| Synonyms |
Flj21950, KIAA0903-like |
| MMRRC Submission |
042589-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.859)
|
| Stock # |
R4995 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
11 |
| Chromosomal Location |
21955825-22237086 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 22051073 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Histidine to Leucine
at position 493
(H493L)
|
| 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: H468L
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000037489
Gene: ENSMUSG00000042302
AA Change: H468L
| 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: H493L
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000105191
Gene: ENSMUSG00000042302
AA Change: H493L
| 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: H468L
PolyPhen 2
Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000136697
Gene: ENSMUSG00000042302
AA Change: H468L
| 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 |
0.9606 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.5%
- 10x: 96.7%
- 20x: 93.6%
|
| Validation Efficiency |
99% (86/87) |
| 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: 79 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4921504E06Rik |
G |
A |
2: 19,498,995 (GRCm39) |
Q333* |
probably null |
Het |
| 4930505A04Rik |
C |
T |
11: 30,376,349 (GRCm39) |
V173M |
probably damaging |
Het |
| Acvrl1 |
G |
A |
15: 101,033,741 (GRCm39) |
R141H |
probably benign |
Het |
| Adprm |
A |
G |
11: 66,932,436 (GRCm39) |
F158L |
possibly damaging |
Het |
| Aldoart2 |
C |
T |
12: 55,613,038 (GRCm39) |
T321M |
probably benign |
Het |
| Ap3m2 |
A |
G |
8: 23,293,792 (GRCm39) |
V86A |
probably benign |
Het |
| Arhgef19 |
T |
A |
4: 140,974,826 (GRCm39) |
|
probably null |
Het |
| Bcl2l12 |
T |
G |
7: 44,643,615 (GRCm39) |
|
probably null |
Het |
| Bptf |
T |
C |
11: 106,945,391 (GRCm39) |
Q2501R |
probably damaging |
Het |
| C230029F24Rik |
A |
T |
1: 49,377,295 (GRCm39) |
|
noncoding transcript |
Het |
| C7 |
C |
T |
15: 5,079,074 (GRCm39) |
G78D |
probably damaging |
Het |
| Caly |
T |
C |
7: 139,650,538 (GRCm39) |
T135A |
probably benign |
Het |
| Cbl |
A |
G |
9: 44,065,108 (GRCm39) |
M740T |
possibly damaging |
Het |
| Cbx4 |
A |
G |
11: 118,972,037 (GRCm39) |
V446A |
probably benign |
Het |
| Celsr1 |
C |
A |
15: 85,822,112 (GRCm39) |
R1735L |
probably damaging |
Het |
| Cep250 |
A |
G |
2: 155,830,236 (GRCm39) |
D135G |
probably damaging |
Het |
| Cgn |
T |
C |
3: 94,687,246 (GRCm39) |
T19A |
probably damaging |
Het |
| Chic2 |
A |
T |
5: 75,204,865 (GRCm39) |
V32D |
probably damaging |
Het |
| Cntln |
A |
G |
4: 84,968,120 (GRCm39) |
K780E |
probably benign |
Het |
| Col8a2 |
A |
T |
4: 126,204,581 (GRCm39) |
D197V |
probably damaging |
Het |
| Crot |
A |
T |
5: 9,024,000 (GRCm39) |
V372E |
probably damaging |
Het |
| Cyb561d2 |
C |
T |
9: 107,418,747 (GRCm39) |
V26M |
probably damaging |
Het |
| Ddx5 |
G |
A |
11: 106,676,062 (GRCm39) |
T237I |
probably damaging |
Het |
| Dmxl2 |
G |
T |
9: 54,408,725 (GRCm39) |
|
probably benign |
Het |
| Dock8 |
T |
A |
19: 25,135,747 (GRCm39) |
S1188R |
probably benign |
Het |
| Eif5b |
T |
A |
1: 38,090,792 (GRCm39) |
*1217K |
probably null |
Het |
| Eprs1 |
A |
G |
1: 185,142,336 (GRCm39) |
|
probably benign |
Het |
| Etfdh |
T |
C |
3: 79,513,095 (GRCm39) |
D376G |
probably benign |
Het |
| Fam186a |
T |
C |
15: 99,842,980 (GRCm39) |
Q1088R |
probably benign |
Het |
| Fbxw16 |
G |
T |
9: 109,270,318 (GRCm39) |
T141N |
probably damaging |
Het |
| Fgf11 |
G |
A |
11: 69,689,585 (GRCm39) |
H138Y |
probably damaging |
Het |
| Htra3 |
T |
C |
5: 35,828,418 (GRCm39) |
E154G |
probably damaging |
Het |
| Hydin |
T |
A |
8: 111,296,274 (GRCm39) |
V3601D |
probably damaging |
Het |
| Jup |
G |
T |
11: 100,270,367 (GRCm39) |
S380* |
probably null |
Het |
| Klrg1 |
T |
A |
6: 122,255,234 (GRCm39) |
D66V |
probably benign |
Het |
| Llgl1 |
C |
T |
11: 60,600,550 (GRCm39) |
A633V |
probably benign |
Het |
| Lmln |
T |
A |
16: 32,894,467 (GRCm39) |
Y203* |
probably null |
Het |
| Lrrc58 |
T |
G |
16: 37,697,418 (GRCm39) |
C165G |
probably benign |
Het |
| Lss |
T |
C |
10: 76,383,371 (GRCm39) |
V557A |
probably benign |
Het |
| Mast4 |
T |
C |
13: 103,042,262 (GRCm39) |
|
probably benign |
Het |
| Med13l |
C |
A |
5: 118,869,014 (GRCm39) |
P754Q |
possibly damaging |
Het |
| Mga |
C |
T |
2: 119,763,063 (GRCm39) |
R1240* |
probably null |
Het |
| Mgat5b |
T |
A |
11: 116,865,025 (GRCm39) |
|
probably null |
Het |
| Mtor |
A |
G |
4: 148,610,209 (GRCm39) |
D1572G |
probably damaging |
Het |
| Muc4 |
T |
A |
16: 32,754,214 (GRCm38) |
S1363T |
probably benign |
Het |
| Muc4 |
T |
A |
16: 32,575,332 (GRCm39) |
S1306T |
probably benign |
Het |
| Myo18b |
A |
G |
5: 112,908,258 (GRCm39) |
V2005A |
probably damaging |
Het |
| Myo1e |
G |
A |
9: 70,260,554 (GRCm39) |
D571N |
probably benign |
Het |
| Mypn |
T |
C |
10: 62,955,747 (GRCm39) |
|
probably null |
Het |
| Ndufb10 |
T |
C |
17: 24,941,731 (GRCm39) |
|
probably null |
Het |
| Nelfb |
G |
T |
2: 25,096,208 (GRCm39) |
D300E |
probably benign |
Het |
| Nicol1 |
G |
A |
5: 34,142,270 (GRCm39) |
R79H |
probably damaging |
Het |
| Odad2 |
G |
A |
18: 7,223,663 (GRCm39) |
T460M |
probably damaging |
Het |
| Or2y1d |
T |
A |
11: 49,321,482 (GRCm39) |
Y60N |
probably damaging |
Het |
| Or4e5 |
A |
T |
14: 52,727,988 (GRCm39) |
C61* |
probably null |
Het |
| Or52n2c |
T |
A |
7: 104,574,942 (GRCm39) |
T10S |
probably benign |
Het |
| Or52z15 |
T |
A |
7: 103,332,574 (GRCm39) |
D206E |
probably damaging |
Het |
| Pcdha11 |
C |
T |
18: 37,144,080 (GRCm39) |
T57M |
probably benign |
Het |
| Pkp1 |
A |
T |
1: 135,808,593 (GRCm39) |
I458N |
possibly damaging |
Het |
| Prr12 |
T |
A |
7: 44,700,653 (GRCm39) |
|
probably benign |
Het |
| Prrc2c |
A |
T |
1: 162,532,879 (GRCm39) |
|
probably benign |
Het |
| Psd4 |
T |
C |
2: 24,287,259 (GRCm39) |
F397S |
probably benign |
Het |
| Pygm |
T |
C |
19: 6,448,169 (GRCm39) |
I737T |
probably damaging |
Het |
| Rfx1 |
T |
A |
8: 84,806,743 (GRCm39) |
|
probably null |
Het |
| Rsl1 |
A |
G |
13: 67,330,313 (GRCm39) |
T254A |
possibly damaging |
Het |
| Sh3rf3 |
A |
G |
10: 58,922,646 (GRCm39) |
Q574R |
probably benign |
Het |
| Spire1 |
T |
C |
18: 67,685,849 (GRCm39) |
|
probably null |
Het |
| St6galnac4 |
G |
A |
2: 32,484,075 (GRCm39) |
G91D |
probably damaging |
Het |
| Sytl2 |
T |
C |
7: 90,031,465 (GRCm39) |
|
probably benign |
Het |
| Tbpl2 |
T |
A |
2: 23,983,872 (GRCm39) |
K188N |
possibly damaging |
Het |
| Tenm3 |
A |
T |
8: 48,682,172 (GRCm39) |
M2486K |
possibly damaging |
Het |
| Tgoln1 |
A |
C |
6: 72,593,123 (GRCm39) |
V119G |
possibly damaging |
Het |
| Tpgs1 |
A |
T |
10: 79,505,325 (GRCm39) |
N28Y |
probably benign |
Het |
| U2surp |
A |
C |
9: 95,344,847 (GRCm39) |
|
probably benign |
Het |
| Vmn2r103 |
A |
G |
17: 19,993,773 (GRCm39) |
H50R |
probably benign |
Het |
| Vmn2r19 |
A |
G |
6: 123,306,869 (GRCm39) |
N459S |
probably benign |
Het |
| Vmn2r72 |
T |
C |
7: 85,387,693 (GRCm39) |
S624G |
probably damaging |
Het |
| Vps13c |
A |
G |
9: 67,826,603 (GRCm39) |
T1415A |
probably benign |
Het |
| Vwa5b1 |
G |
A |
4: 138,336,154 (GRCm39) |
P147S |
probably damaging |
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 |
|
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'- AAAAGGTTGGCATCCTGGC -3'
(R):5'- GTTGAAGGACCAAACTGACATC -3'
Sequencing Primer
(F):5'- GGCATCCTGGCATATACTTGTC -3'
(R):5'- GGACCAAACTGACATCAAAGGTTTC -3'
|
| Posted On |
2016-05-10 |
Incidental Mutation