Incidental Mutation 'R4917:Ehbp1'
| ID |
378314 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Ehbp1
|
| Ensembl Gene |
ENSMUSG00000042302 |
| Gene Name |
EH domain binding protein 1 |
| Synonyms |
Flj21950, KIAA0903-like |
| MMRRC Submission |
042519-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.829)
|
| Stock # |
R4917 (G1)
|
| Quality Score |
225 |
|
Status
|
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: 99.0%
- 3x: 98.3%
- 10x: 96.1%
- 20x: 91.7%
|
| Validation Efficiency |
97% (111/114) |
| 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: 92 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adgrv1 |
C |
T |
13: 81,658,996 (GRCm39) |
V2783I |
probably benign |
Het |
| Ago4 |
A |
C |
4: 126,400,635 (GRCm39) |
C693G |
probably damaging |
Het |
| Apobec2 |
T |
C |
17: 48,730,153 (GRCm39) |
E171G |
probably benign |
Het |
| Arfgef3 |
T |
A |
10: 18,492,638 (GRCm39) |
I1258F |
probably damaging |
Het |
| Arhgef40 |
A |
G |
14: 52,227,556 (GRCm39) |
E434G |
probably damaging |
Het |
| Bcas1 |
T |
C |
2: 170,220,806 (GRCm39) |
D324G |
probably damaging |
Het |
| Bdp1 |
A |
T |
13: 100,191,713 (GRCm39) |
V1422E |
probably damaging |
Het |
| Bfsp1 |
C |
T |
2: 143,669,391 (GRCm39) |
R396Q |
probably benign |
Het |
| Bpifb9b |
T |
A |
2: 154,156,026 (GRCm39) |
|
probably null |
Het |
| Cacna1s |
T |
A |
1: 136,029,302 (GRCm39) |
|
probably null |
Het |
| Casp8 |
T |
C |
1: 58,866,377 (GRCm39) |
F126S |
probably damaging |
Het |
| Cdh26 |
T |
C |
2: 178,091,614 (GRCm39) |
S58P |
probably benign |
Het |
| Cds2 |
A |
G |
2: 132,140,398 (GRCm39) |
T182A |
probably damaging |
Het |
| Cfap157 |
C |
T |
2: 32,669,965 (GRCm39) |
R206H |
probably benign |
Het |
| Col7a1 |
G |
A |
9: 108,795,532 (GRCm39) |
G1529E |
unknown |
Het |
| Crybg3 |
A |
G |
16: 59,350,782 (GRCm39) |
F2567L |
probably benign |
Het |
| Cyp2e1 |
T |
C |
7: 140,354,527 (GRCm39) |
S393P |
possibly damaging |
Het |
| D5Ertd579e |
A |
G |
5: 36,773,160 (GRCm39) |
Y412H |
probably damaging |
Het |
| Dclk2 |
A |
T |
3: 86,732,049 (GRCm39) |
|
probably null |
Het |
| Ddx50 |
A |
T |
10: 62,463,450 (GRCm39) |
C414* |
probably null |
Het |
| Dip2c |
T |
A |
13: 9,671,905 (GRCm39) |
|
probably null |
Het |
| Dmtn |
G |
T |
14: 70,843,159 (GRCm39) |
P283Q |
probably damaging |
Het |
| Dspp |
C |
A |
5: 104,325,789 (GRCm39) |
D717E |
unknown |
Het |
| Efcab11 |
T |
C |
12: 99,685,321 (GRCm39) |
D151G |
probably damaging |
Het |
| Egfem1 |
T |
C |
3: 29,206,042 (GRCm39) |
V93A |
probably damaging |
Het |
| Erlec1 |
A |
G |
11: 30,884,710 (GRCm39) |
Y448H |
possibly damaging |
Het |
| Fer1l4 |
T |
C |
2: 155,873,220 (GRCm39) |
K1287E |
probably benign |
Het |
| Fn1 |
A |
T |
1: 71,634,968 (GRCm39) |
|
probably null |
Het |
| Fut8 |
G |
T |
12: 77,521,818 (GRCm39) |
A486S |
probably damaging |
Het |
| Gfra1 |
A |
T |
19: 58,255,522 (GRCm39) |
S308R |
probably damaging |
Het |
| Gm10764 |
A |
G |
10: 87,126,579 (GRCm39) |
|
noncoding transcript |
Het |
| Gm5958 |
C |
A |
14: 100,073,189 (GRCm39) |
|
noncoding transcript |
Het |
| Gm6788 |
C |
T |
19: 28,740,664 (GRCm39) |
|
noncoding transcript |
Het |
| Gsdmd |
A |
G |
15: 75,736,241 (GRCm39) |
I123M |
probably benign |
Het |
| H2bc13 |
A |
T |
13: 21,900,189 (GRCm39) |
V42E |
probably damaging |
Het |
| Hsf4 |
A |
G |
8: 105,999,367 (GRCm39) |
E235G |
probably benign |
Het |
| Ighv1-83 |
T |
C |
12: 115,927,580 (GRCm39) |
I57V |
probably benign |
Het |
| Inhca |
A |
C |
9: 103,129,054 (GRCm39) |
Y235* |
probably null |
Het |
| Inpp5f |
A |
T |
7: 128,286,840 (GRCm39) |
D573V |
probably damaging |
Het |
| Kcnj1 |
T |
A |
9: 32,308,056 (GRCm39) |
L160Q |
probably damaging |
Het |
| Kcnmb3 |
A |
T |
3: 32,526,653 (GRCm39) |
C179* |
probably null |
Het |
| Lrig1 |
A |
G |
6: 94,586,700 (GRCm39) |
F659L |
probably damaging |
Het |
| Lrrc3 |
T |
C |
10: 77,737,253 (GRCm39) |
D61G |
probably benign |
Het |
| Marchf4 |
T |
G |
1: 72,467,938 (GRCm39) |
S365R |
probably benign |
Het |
| Mccc1 |
A |
G |
3: 36,051,703 (GRCm39) |
L32S |
probably benign |
Het |
| Mei4 |
A |
G |
9: 81,772,216 (GRCm39) |
T10A |
probably benign |
Het |
| Meis1 |
T |
C |
11: 18,959,222 (GRCm39) |
|
probably benign |
Het |
| Mllt1 |
T |
C |
17: 57,206,813 (GRCm39) |
T344A |
probably benign |
Het |
| Mmp11 |
C |
T |
10: 75,761,419 (GRCm39) |
A31T |
probably damaging |
Het |
| Mrps28 |
A |
G |
3: 8,947,614 (GRCm39) |
|
probably benign |
Het |
| Mthfsl |
A |
C |
9: 88,597,550 (GRCm39) |
L67V |
probably damaging |
Het |
| Ncaph2 |
A |
G |
15: 89,244,574 (GRCm39) |
I11V |
probably damaging |
Het |
| Ncdn |
G |
A |
4: 126,643,731 (GRCm39) |
L364F |
possibly damaging |
Het |
| Nfat5 |
T |
A |
8: 108,051,284 (GRCm39) |
D47E |
probably damaging |
Het |
| Or51g2 |
A |
T |
7: 102,622,614 (GRCm39) |
I195N |
possibly damaging |
Het |
| Or5b106 |
T |
A |
19: 13,123,355 (GRCm39) |
I223L |
possibly damaging |
Het |
| Or5bw2 |
C |
T |
7: 6,573,643 (GRCm39) |
L218F |
possibly damaging |
Het |
| Pcdhb3 |
A |
T |
18: 37,435,452 (GRCm39) |
I473F |
probably damaging |
Het |
| Pcdhgb8 |
A |
T |
18: 37,897,191 (GRCm39) |
N754Y |
probably damaging |
Het |
| Pgbd5 |
C |
A |
8: 125,097,305 (GRCm39) |
K408N |
probably benign |
Het |
| Pnisr |
A |
G |
4: 21,859,330 (GRCm39) |
|
probably benign |
Het |
| Poldip3 |
A |
T |
15: 83,016,776 (GRCm39) |
|
probably null |
Het |
| Ppfia2 |
G |
C |
10: 106,597,978 (GRCm39) |
L180F |
probably damaging |
Het |
| Psmc3 |
A |
G |
2: 90,896,317 (GRCm39) |
|
probably benign |
Het |
| Rab3gap1 |
T |
A |
1: 127,816,914 (GRCm39) |
W58R |
possibly damaging |
Het |
| Rere |
T |
A |
4: 150,703,601 (GRCm39) |
W1528R |
probably damaging |
Het |
| Rhot1 |
A |
G |
11: 80,100,027 (GRCm39) |
|
probably benign |
Het |
| Rsf1 |
T |
C |
7: 97,311,612 (GRCm39) |
S781P |
probably damaging |
Het |
| Rtraf |
T |
C |
14: 19,873,784 (GRCm39) |
K5R |
probably damaging |
Het |
| Rufy4 |
T |
C |
1: 74,186,822 (GRCm39) |
C537R |
probably damaging |
Het |
| Ryr2 |
A |
G |
13: 11,609,872 (GRCm39) |
V753A |
probably damaging |
Het |
| Ryr3 |
T |
C |
2: 112,661,530 (GRCm39) |
H1820R |
probably damaging |
Het |
| Schip1 |
A |
T |
3: 68,315,818 (GRCm39) |
|
probably benign |
Het |
| Scin |
T |
A |
12: 40,119,373 (GRCm39) |
I552F |
possibly damaging |
Het |
| Selp |
A |
C |
1: 163,972,475 (GRCm39) |
T705P |
probably damaging |
Het |
| Sh3rf3 |
A |
T |
10: 58,842,925 (GRCm39) |
D297V |
probably damaging |
Het |
| Slc24a4 |
T |
A |
12: 102,231,203 (GRCm39) |
|
probably null |
Het |
| Slc2a9 |
C |
A |
5: 38,574,603 (GRCm39) |
L224F |
probably benign |
Het |
| Slc35e2 |
C |
A |
4: 155,700,693 (GRCm39) |
P272Q |
probably damaging |
Het |
| Slf2 |
T |
G |
19: 44,960,100 (GRCm39) |
D1022E |
probably damaging |
Het |
| Syne1 |
C |
T |
10: 5,007,909 (GRCm39) |
C7932Y |
probably damaging |
Het |
| Tc2n |
A |
G |
12: 101,631,954 (GRCm39) |
L301P |
probably damaging |
Het |
| Tchhl1 |
A |
G |
3: 93,377,623 (GRCm39) |
D109G |
possibly damaging |
Het |
| Thoc7 |
T |
C |
14: 13,953,154 (GRCm38) |
I83V |
probably damaging |
Het |
| Tm4sf1 |
C |
T |
3: 57,200,448 (GRCm39) |
G85S |
probably damaging |
Het |
| Tmem63a |
T |
A |
1: 180,794,086 (GRCm39) |
I541N |
probably benign |
Het |
| Tmpo |
A |
G |
10: 90,985,411 (GRCm39) |
V357A |
probably damaging |
Het |
| Unc80 |
T |
C |
1: 66,685,709 (GRCm39) |
Y2278H |
possibly damaging |
Het |
| Vmn1r26 |
A |
G |
6: 57,985,808 (GRCm39) |
F127S |
probably damaging |
Het |
| Vmn2r8 |
A |
T |
5: 108,945,264 (GRCm39) |
M781K |
probably damaging |
Het |
| Vps36 |
T |
G |
8: 22,708,280 (GRCm39) |
M348R |
possibly damaging |
Het |
| Vps45 |
T |
C |
3: 95,926,943 (GRCm39) |
T535A |
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 |
|
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'- GCTTTTGTACTCTCAACCACAG -3'
Sequencing Primer
(F):5'- CTACGCTGTGATGGTAGCTTAGTAAG -3'
(R):5'- CAGAGTTCATTTATTCAAGACTGCC -3'
|
| Posted On |
2016-04-15 |
Incidental Mutation