Incidental Mutation 'R4914:Ehbp1'
| ID |
379838 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Ehbp1
|
| Ensembl Gene |
ENSMUSG00000042302 |
| Gene Name |
EH domain binding protein 1 |
| Synonyms |
Flj21950, KIAA0903-like |
| MMRRC Submission |
042516-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.859)
|
| Stock # |
R4914 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
11 |
| Chromosomal Location |
21955825-22237086 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 22096592 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Glycine
at position 299
(D299G)
|
| 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: D299G
PolyPhen 2
Score 0.018 (Sensitivity: 0.95; Specificity: 0.80)
|
| SMART Domains |
Protein: ENSMUSP00000037489
Gene: ENSMUSG00000042302
AA Change: D299G
| 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: D324G
PolyPhen 2
Score 0.011 (Sensitivity: 0.96; Specificity: 0.78)
|
| SMART Domains |
Protein: ENSMUSP00000105191
Gene: ENSMUSG00000042302
AA Change: D324G
| 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
AA Change: D289G
PolyPhen 2
Score 0.044 (Sensitivity: 0.94; Specificity: 0.83)
|
| SMART Domains |
Protein: ENSMUSP00000118583
Gene: ENSMUSG00000042302
AA Change: D289G
| 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: D299G
PolyPhen 2
Score 0.201 (Sensitivity: 0.92; Specificity: 0.88)
|
| SMART Domains |
Protein: ENSMUSP00000136697
Gene: ENSMUSG00000042302
AA Change: D299G
| 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 |
0.0730 |
| Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.4%
- 10x: 96.6%
- 20x: 93.4%
|
| Validation Efficiency |
|
| 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: 99 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Ace |
G |
A |
11: 105,870,423 (GRCm39) |
V281M |
probably damaging |
Het |
| Ap1b1 |
C |
T |
11: 4,974,400 (GRCm39) |
T363I |
possibly damaging |
Het |
| Apobec2 |
T |
C |
17: 48,730,153 (GRCm39) |
E171G |
probably benign |
Het |
| Arhgef1 |
T |
A |
7: 24,623,264 (GRCm39) |
L436Q |
probably damaging |
Het |
| Atxn2 |
T |
A |
5: 121,887,159 (GRCm39) |
D276E |
probably damaging |
Het |
| AU040320 |
A |
T |
4: 126,729,469 (GRCm39) |
K544* |
probably null |
Het |
| Baz2b |
T |
A |
2: 59,744,387 (GRCm39) |
T1373S |
possibly damaging |
Het |
| Bcas1 |
T |
C |
2: 170,220,806 (GRCm39) |
D324G |
probably damaging |
Het |
| Bdp1 |
A |
G |
13: 100,192,844 (GRCm39) |
V1330A |
probably benign |
Het |
| Bfsp1 |
C |
T |
2: 143,669,391 (GRCm39) |
R396Q |
probably benign |
Het |
| Bpifb9b |
T |
A |
2: 154,156,026 (GRCm39) |
|
probably null |
Het |
| Cabs1 |
T |
C |
5: 88,128,296 (GRCm39) |
Y316H |
probably damaging |
Het |
| Carmil2 |
A |
G |
8: 106,420,175 (GRCm39) |
K908E |
possibly damaging |
Het |
| Ccdc188 |
C |
A |
16: 18,036,083 (GRCm39) |
P86Q |
probably benign |
Het |
| Cdh26 |
T |
C |
2: 178,091,614 (GRCm39) |
S58P |
probably benign |
Het |
| Cemip2 |
G |
A |
19: 21,786,653 (GRCm39) |
V472I |
probably benign |
Het |
| Cybb |
C |
G |
X: 9,316,989 (GRCm39) |
D246H |
probably benign |
Het |
| Dclk2 |
A |
T |
3: 86,732,049 (GRCm39) |
|
probably null |
Het |
| Dennd5a |
A |
G |
7: 109,500,296 (GRCm39) |
F943S |
probably damaging |
Het |
| Disp2 |
A |
T |
2: 118,620,935 (GRCm39) |
S556C |
probably damaging |
Het |
| Dnai3 |
A |
G |
3: 145,772,582 (GRCm39) |
I488T |
probably damaging |
Het |
| Dpp4 |
A |
T |
2: 62,178,236 (GRCm39) |
M632K |
probably benign |
Het |
| E030030I06Rik |
G |
A |
10: 21,990,197 (GRCm39) |
T192M |
possibly damaging |
Het |
| Ece2 |
C |
T |
16: 20,462,820 (GRCm39) |
R582C |
probably damaging |
Het |
| Emc1 |
C |
T |
4: 139,102,476 (GRCm39) |
R924* |
probably null |
Het |
| Etaa1 |
A |
T |
11: 17,896,532 (GRCm39) |
S528R |
probably benign |
Het |
| Exoc2 |
A |
T |
13: 31,060,796 (GRCm39) |
N569K |
probably benign |
Het |
| Fasn |
T |
G |
11: 120,707,472 (GRCm39) |
N799T |
probably benign |
Het |
| Fbxo3 |
T |
G |
2: 103,885,311 (GRCm39) |
N388K |
probably damaging |
Het |
| Fbxw16 |
C |
T |
9: 109,267,245 (GRCm39) |
V329I |
probably benign |
Het |
| Fer1l4 |
T |
C |
2: 155,873,220 (GRCm39) |
K1287E |
probably benign |
Het |
| Fermt1 |
A |
G |
2: 132,748,760 (GRCm39) |
V621A |
probably damaging |
Het |
| Fnbp4 |
A |
G |
2: 90,581,513 (GRCm39) |
T189A |
probably benign |
Het |
| Fut8 |
G |
T |
12: 77,521,818 (GRCm39) |
A486S |
probably damaging |
Het |
| G6pd2 |
T |
A |
5: 61,967,672 (GRCm39) |
Y482* |
probably null |
Het |
| Gfra1 |
A |
T |
19: 58,255,522 (GRCm39) |
S308R |
probably damaging |
Het |
| Glp2r |
G |
T |
11: 67,648,419 (GRCm39) |
Y94* |
probably null |
Het |
| Gper1 |
A |
G |
5: 139,412,623 (GRCm39) |
I323V |
probably benign |
Het |
| Grm5 |
C |
A |
7: 87,779,337 (GRCm39) |
R958S |
probably benign |
Het |
| H2-DMb2 |
A |
G |
17: 34,369,503 (GRCm39) |
T85A |
probably benign |
Het |
| Hgsnat |
A |
G |
8: 26,454,866 (GRCm39) |
S220P |
probably damaging |
Het |
| Hspa12a |
A |
T |
19: 58,787,884 (GRCm39) |
M646K |
probably damaging |
Het |
| Inpp5f |
A |
T |
7: 128,286,840 (GRCm39) |
D573V |
probably damaging |
Het |
| Jmjd1c |
A |
G |
10: 67,054,750 (GRCm39) |
N344D |
probably damaging |
Het |
| Kif1c |
A |
G |
11: 70,599,681 (GRCm39) |
E471G |
probably damaging |
Het |
| Lalba |
T |
A |
15: 98,380,061 (GRCm39) |
N63I |
probably benign |
Het |
| Mcoln1 |
T |
A |
8: 3,557,483 (GRCm39) |
L163* |
probably null |
Het |
| Mllt1 |
T |
C |
17: 57,206,813 (GRCm39) |
T344A |
probably benign |
Het |
| Mpzl2 |
T |
A |
9: 44,955,146 (GRCm39) |
D114E |
probably benign |
Het |
| Myef2 |
T |
A |
2: 124,951,659 (GRCm39) |
K259* |
probably null |
Het |
| Myh8 |
C |
A |
11: 67,183,510 (GRCm39) |
D740E |
probably damaging |
Het |
| Myo1b |
A |
T |
1: 51,863,367 (GRCm39) |
|
probably null |
Het |
| Nfix |
T |
C |
8: 85,498,458 (GRCm39) |
I172V |
probably benign |
Het |
| Or1b1 |
A |
T |
2: 36,995,170 (GRCm39) |
I164N |
possibly damaging |
Het |
| Or2h2 |
T |
C |
17: 37,396,883 (GRCm39) |
Y58C |
probably damaging |
Het |
| Or2w1b |
A |
T |
13: 21,300,567 (GRCm39) |
Q235L |
probably benign |
Het |
| Or3a1b |
A |
T |
11: 74,012,705 (GRCm39) |
I197F |
probably benign |
Het |
| Or5b106 |
T |
A |
19: 13,123,355 (GRCm39) |
I223L |
possibly damaging |
Het |
| Orc1 |
T |
C |
4: 108,461,755 (GRCm39) |
F584S |
probably damaging |
Het |
| Osgin1 |
C |
A |
8: 120,169,283 (GRCm39) |
A60D |
possibly damaging |
Het |
| Pde4dip |
C |
A |
3: 97,622,644 (GRCm39) |
V1522L |
probably benign |
Het |
| Phactr1 |
A |
G |
13: 43,287,439 (GRCm39) |
T556A |
possibly damaging |
Het |
| Ppfia2 |
G |
C |
10: 106,597,978 (GRCm39) |
L180F |
probably damaging |
Het |
| Ppm1k |
T |
A |
6: 57,487,762 (GRCm39) |
N354Y |
probably damaging |
Het |
| Ppp1r1a |
A |
G |
15: 103,446,265 (GRCm39) |
V14A |
probably damaging |
Het |
| Prkcd |
A |
T |
14: 30,327,395 (GRCm39) |
|
probably null |
Het |
| Ranbp17 |
T |
C |
11: 33,163,425 (GRCm39) |
S1082G |
probably benign |
Het |
| Rere |
T |
A |
4: 150,703,601 (GRCm39) |
W1528R |
probably damaging |
Het |
| Rnf103 |
T |
A |
6: 71,487,248 (GRCm39) |
F626L |
possibly damaging |
Het |
| Rsrc2 |
A |
G |
5: 123,877,613 (GRCm39) |
|
probably benign |
Het |
| Scin |
T |
A |
12: 40,119,373 (GRCm39) |
I552F |
possibly damaging |
Het |
| Scn3a |
T |
C |
2: 65,291,799 (GRCm39) |
N1649S |
probably damaging |
Het |
| Slain2 |
T |
A |
5: 73,115,609 (GRCm39) |
M448K |
probably benign |
Het |
| Slc25a54 |
T |
C |
3: 109,018,395 (GRCm39) |
F292L |
probably benign |
Het |
| Slc4a1 |
A |
G |
11: 102,243,279 (GRCm39) |
V784A |
probably damaging |
Het |
| Slco1b2 |
G |
A |
6: 141,615,096 (GRCm39) |
V334I |
probably benign |
Het |
| Slf2 |
T |
G |
19: 44,960,100 (GRCm39) |
D1022E |
probably damaging |
Het |
| Smg8 |
T |
C |
11: 86,971,536 (GRCm39) |
E745G |
probably damaging |
Het |
| Smyd1 |
T |
G |
6: 71,196,321 (GRCm39) |
I322L |
probably benign |
Het |
| Snx13 |
G |
A |
12: 35,182,032 (GRCm39) |
V694I |
possibly damaging |
Het |
| Sox6 |
T |
C |
7: 115,076,199 (GRCm39) |
D814G |
probably damaging |
Het |
| Spag6 |
A |
T |
2: 18,750,360 (GRCm39) |
I469F |
probably benign |
Het |
| Spsb2 |
A |
C |
6: 124,786,711 (GRCm39) |
E148A |
probably benign |
Het |
| Srprb |
C |
A |
9: 103,079,147 (GRCm39) |
V747L |
possibly damaging |
Het |
| Stam |
A |
G |
2: 14,107,227 (GRCm39) |
E16G |
probably damaging |
Het |
| Taar5 |
A |
T |
10: 23,847,468 (GRCm39) |
I289F |
possibly damaging |
Het |
| Tgif1 |
C |
T |
17: 71,152,242 (GRCm39) |
R70H |
probably damaging |
Het |
| Top2a |
A |
T |
11: 98,893,786 (GRCm39) |
L1036H |
probably damaging |
Het |
| Tph1 |
T |
A |
7: 46,303,283 (GRCm39) |
I232F |
probably damaging |
Het |
| Ttn |
T |
C |
2: 76,577,175 (GRCm39) |
T24573A |
probably damaging |
Het |
| Tub |
C |
T |
7: 108,620,161 (GRCm39) |
R102* |
probably null |
Het |
| Ube2n |
T |
A |
10: 95,377,607 (GRCm39) |
W129R |
possibly damaging |
Het |
| Usp8 |
A |
T |
2: 126,562,060 (GRCm39) |
K85* |
probably null |
Het |
| Vmn2r81 |
A |
T |
10: 79,106,357 (GRCm39) |
K445M |
probably null |
Het |
| Vps45 |
T |
C |
3: 95,926,943 (GRCm39) |
T535A |
probably damaging |
Het |
| Zfp1007 |
A |
G |
5: 109,826,396 (GRCm39) |
S59P |
probably damaging |
Het |
| Zfp157 |
T |
C |
5: 138,454,557 (GRCm39) |
S252P |
possibly damaging |
Het |
| Zfp605 |
T |
A |
5: 110,275,567 (GRCm39) |
C228* |
probably null |
Het |
| Zfp791 |
T |
A |
8: 85,837,580 (GRCm39) |
I95L |
probably benign |
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 |
|
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'- ACATGGGCTACGCTGTGATG -3'
(R):5'- ATTGCTTTTGTACTCTCAACCACAGAG -3'
Sequencing Primer
(F):5'- CTACGCTGTGATGGTAGCTTAGTAAG -3'
(R):5'- CAGAGTTCATTTATTCAAGACTGCC -3'
|
| Posted On |
2016-04-15 |
Incidental Mutation