Incidental Mutation 'R9612:Ehbp1'
| ID |
724324 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Ehbp1
|
| Ensembl Gene |
ENSMUSG00000042302 |
| Gene Name |
EH domain binding protein 1 |
| Synonyms |
Flj21950, KIAA0903-like |
| MMRRC Submission |
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.829)
|
| Stock # |
R9612 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
11 |
| Chromosomal Location |
21955825-22237086 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 22119124 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Glycine
at position 182
(D182G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000105191
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000045167]
[ENSMUST00000109563]
[ENSMUST00000134293]
[ENSMUST00000180360]
|
| AlphaFold |
Q69ZW3 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000045167
AA Change: D182G
PolyPhen 2
Score 0.975 (Sensitivity: 0.76; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000037489
Gene: ENSMUSG00000042302
AA Change: D182G
| 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: D182G
PolyPhen 2
Score 0.986 (Sensitivity: 0.74; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000105191
Gene: ENSMUSG00000042302
AA Change: D182G
| 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: ENSMUST00000134293
AA Change: D182G
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000118583
Gene: ENSMUSG00000042302
AA Change: D182G
| 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 |
probably damaging
Transcript: ENSMUST00000180360
AA Change: D182G
PolyPhen 2
Score 0.975 (Sensitivity: 0.76; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000136697
Gene: ENSMUSG00000042302
AA Change: D182G
| 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: 99.9%
- 10x: 99.5%
- 20x: 98.6%
|
| 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: 96 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 2610021A01Rik |
T |
C |
7: 41,276,327 (GRCm39) |
S677P |
possibly damaging |
Het |
| 5730480H06Rik |
A |
G |
5: 48,531,872 (GRCm39) |
I67V |
probably benign |
Het |
| Adam15 |
T |
A |
3: 89,249,247 (GRCm39) |
Y736F |
probably damaging |
Het |
| Adam29 |
A |
T |
8: 56,325,118 (GRCm39) |
F445L |
possibly damaging |
Het |
| Adgrv1 |
A |
G |
13: 81,641,082 (GRCm39) |
Y3318H |
probably damaging |
Het |
| Akap6 |
A |
G |
12: 52,958,690 (GRCm39) |
Y815C |
probably damaging |
Het |
| Ankar |
T |
A |
1: 72,704,294 (GRCm39) |
D876V |
possibly damaging |
Het |
| Atp6v1g2 |
G |
A |
17: 35,456,733 (GRCm39) |
V106I |
probably benign |
Het |
| Bdp1 |
A |
G |
13: 100,214,370 (GRCm39) |
S490P |
probably benign |
Het |
| Bet1 |
A |
T |
6: 4,077,918 (GRCm39) |
V107D |
probably damaging |
Het |
| Bri3bp |
T |
C |
5: 125,531,390 (GRCm39) |
V112A |
probably damaging |
Het |
| Cage1 |
T |
A |
13: 38,216,351 (GRCm39) |
D33V |
probably damaging |
Het |
| Ccdc146 |
G |
T |
5: 21,535,577 (GRCm39) |
A159E |
probably damaging |
Het |
| Ccnl1 |
C |
A |
3: 65,865,404 (GRCm39) |
G49V |
probably damaging |
Het |
| Cdk13 |
A |
C |
13: 17,926,440 (GRCm39) |
F787V |
|
Het |
| Cdk5r1 |
T |
C |
11: 80,368,480 (GRCm39) |
V49A |
probably benign |
Het |
| Cdon |
G |
A |
9: 35,398,201 (GRCm39) |
V973I |
probably damaging |
Het |
| Cfap298 |
A |
T |
16: 90,724,275 (GRCm39) |
M166K |
probably benign |
Het |
| Chd1l |
T |
A |
3: 97,488,463 (GRCm39) |
K518* |
probably null |
Het |
| Col24a1 |
A |
G |
3: 145,250,960 (GRCm39) |
D1653G |
probably benign |
Het |
| Cstf3 |
G |
T |
2: 104,483,370 (GRCm39) |
V359F |
possibly damaging |
Het |
| Dchs2 |
T |
C |
3: 83,178,193 (GRCm39) |
I1082T |
probably damaging |
Het |
| Dlec1 |
A |
T |
9: 118,956,533 (GRCm39) |
I736F |
probably damaging |
Het |
| Dnah9 |
T |
C |
11: 65,818,475 (GRCm39) |
N3288D |
probably benign |
Het |
| Dpcd |
G |
T |
19: 45,560,422 (GRCm39) |
E82* |
probably null |
Het |
| Eif1ad13 |
A |
G |
12: 87,762,507 (GRCm39) |
I76V |
probably benign |
Het |
| Evc2 |
G |
T |
5: 37,544,130 (GRCm39) |
E626D |
probably benign |
Het |
| Evi5 |
T |
C |
5: 107,943,578 (GRCm39) |
E589G |
probably benign |
Het |
| Exoc4 |
T |
C |
6: 33,226,161 (GRCm39) |
I25T |
probably benign |
Het |
| Extl2 |
T |
A |
3: 115,821,145 (GRCm39) |
*331R |
probably null |
Het |
| Fkbp8 |
G |
A |
8: 70,984,324 (GRCm39) |
R225H |
probably damaging |
Het |
| Foxred2 |
A |
T |
15: 77,836,206 (GRCm39) |
S384T |
probably damaging |
Het |
| Garre1 |
A |
T |
7: 33,947,656 (GRCm39) |
C451S |
probably damaging |
Het |
| Glmn |
T |
C |
5: 107,741,731 (GRCm39) |
E18G |
probably damaging |
Het |
| Gm7489 |
A |
C |
15: 53,749,369 (GRCm39) |
Q147P |
unknown |
Het |
| Gm7489 |
C |
A |
15: 53,749,368 (GRCm39) |
Q147K |
unknown |
Het |
| Gm8005 |
T |
A |
14: 42,260,355 (GRCm39) |
I94F |
|
Het |
| Golgb1 |
G |
A |
16: 36,739,967 (GRCm39) |
V2810M |
probably benign |
Het |
| Gpr21 |
T |
C |
2: 37,408,399 (GRCm39) |
L315P |
probably damaging |
Het |
| Grip1 |
G |
A |
10: 119,874,569 (GRCm39) |
E778K |
possibly damaging |
Het |
| Herc6 |
T |
G |
6: 57,629,017 (GRCm39) |
S643A |
probably benign |
Het |
| Igkv14-100 |
T |
A |
6: 68,496,317 (GRCm39) |
I70N |
probably damaging |
Het |
| Kcnn3 |
A |
G |
3: 89,516,703 (GRCm39) |
M371V |
probably benign |
Het |
| Kif1a |
T |
A |
1: 92,953,416 (GRCm39) |
H1256L |
probably damaging |
Het |
| Klhdc4 |
A |
G |
8: 122,527,917 (GRCm39) |
S266P |
possibly damaging |
Het |
| Kmt2d |
CTGTTG |
CTG |
15: 98,743,057 (GRCm39) |
|
probably benign |
Het |
| Lefty2 |
T |
A |
1: 180,722,286 (GRCm39) |
L208Q |
probably damaging |
Het |
| Lingo2 |
T |
C |
4: 35,708,450 (GRCm39) |
Y510C |
probably damaging |
Het |
| Lrif1 |
T |
A |
3: 106,639,200 (GRCm39) |
V70D |
probably damaging |
Het |
| Lrrc74a |
A |
T |
12: 86,805,345 (GRCm39) |
K389I |
possibly damaging |
Het |
| Megf8 |
A |
T |
7: 25,054,488 (GRCm39) |
E1868V |
probably benign |
Het |
| Mmp1a |
TG |
TGG |
9: 7,465,083 (GRCm38) |
|
probably null |
Het |
| Mmp8 |
A |
G |
9: 7,560,608 (GRCm39) |
D95G |
probably damaging |
Het |
| Mmrn1 |
T |
A |
6: 60,953,408 (GRCm39) |
I563N |
probably damaging |
Het |
| Mroh3 |
T |
C |
1: 136,118,713 (GRCm39) |
T535A |
probably benign |
Het |
| Mroh9 |
A |
G |
1: 162,866,498 (GRCm39) |
L715P |
probably damaging |
Het |
| Myh6 |
G |
T |
14: 55,201,054 (GRCm39) |
A136E |
probably benign |
Het |
| Myom1 |
G |
T |
17: 71,412,475 (GRCm39) |
E1231* |
probably null |
Het |
| Nod2 |
G |
T |
8: 89,397,101 (GRCm39) |
C837F |
probably benign |
Het |
| Nos2 |
T |
A |
11: 78,839,984 (GRCm39) |
W698R |
probably damaging |
Het |
| Nup210l |
C |
T |
3: 90,107,173 (GRCm39) |
P1570L |
probably benign |
Het |
| Oas1a |
A |
T |
5: 121,040,028 (GRCm39) |
S188T |
possibly damaging |
Het |
| Ogfr |
GGCCAGAGGACCCCAAAAGCCAGGTGGAGCCAGAGGACCCCAAAAGCCAGGTGGAGCCAGAGGACCCCAAAAGCCAGGTGGAGCCAGAGGACCCCAAAAGCCAGGTGGGGCCAGAGGACCCCCAAAGCCAGGTGG |
GGCCAGAGGACCCCAAAAGCCAGGTGGAGCCAGAGGACCCCAAAAGCCAGGTGGAGCCAGAGGACCCCAAAAGCCAGGTGGGGCCAGAGGACCCCCAAAGCCAGGTGG |
2: 180,237,059 (GRCm39) |
|
probably benign |
Het |
| Opa1 |
T |
C |
16: 29,430,255 (GRCm39) |
M394T |
|
Het |
| Or1e1d-ps1 |
T |
A |
11: 73,819,375 (GRCm39) |
D108E |
possibly damaging |
Het |
| Or5an6 |
A |
T |
19: 12,371,983 (GRCm39) |
M119L |
probably damaging |
Het |
| Or5p66 |
A |
G |
7: 107,885,487 (GRCm39) |
M282T |
probably benign |
Het |
| Or7g21 |
T |
A |
9: 19,032,760 (GRCm39) |
S167T |
probably benign |
Het |
| Or7g29 |
A |
G |
9: 19,286,677 (GRCm39) |
S167P |
possibly damaging |
Het |
| Oxct2a |
T |
A |
4: 123,217,129 (GRCm39) |
D84V |
probably damaging |
Het |
| Oxct2b |
A |
C |
4: 123,011,019 (GRCm39) |
D313A |
probably damaging |
Het |
| Phldb3 |
G |
A |
7: 24,328,372 (GRCm39) |
V639M |
probably damaging |
Het |
| Plppr4 |
T |
A |
3: 117,115,610 (GRCm39) |
N749I |
probably benign |
Het |
| Pmp22 |
G |
T |
11: 63,024,065 (GRCm39) |
V25F |
probably benign |
Het |
| Pofut2 |
A |
T |
10: 77,101,763 (GRCm39) |
M267L |
probably benign |
Het |
| Ppp1r42 |
T |
A |
1: 10,039,067 (GRCm39) |
N351I |
possibly damaging |
Het |
| Prl2b1 |
T |
C |
13: 27,572,479 (GRCm39) |
E37G |
probably benign |
Het |
| Ptpro |
G |
T |
6: 137,391,318 (GRCm39) |
V813F |
probably benign |
Het |
| Rnaseh2c |
T |
C |
19: 5,652,343 (GRCm39) |
F99L |
probably benign |
Het |
| Scn9a |
T |
A |
2: 66,363,708 (GRCm39) |
I857F |
probably damaging |
Het |
| Slf1 |
A |
G |
13: 77,197,204 (GRCm39) |
|
probably null |
Het |
| Smyd2 |
T |
C |
1: 189,612,983 (GRCm39) |
*434W |
probably null |
Het |
| Spata31h1 |
T |
A |
10: 82,125,453 (GRCm39) |
N2519I |
possibly damaging |
Het |
| Stk40 |
A |
G |
4: 126,030,650 (GRCm39) |
D290G |
probably damaging |
Het |
| Tdo2 |
C |
A |
3: 81,879,001 (GRCm39) |
W82C |
probably damaging |
Het |
| Tmem101 |
A |
G |
11: 102,044,194 (GRCm39) |
V231A |
probably damaging |
Het |
| Tns2 |
G |
A |
15: 102,015,577 (GRCm39) |
E160K |
probably damaging |
Het |
| Trim31 |
A |
T |
17: 37,212,551 (GRCm39) |
D174V |
probably benign |
Het |
| Unc13d |
A |
T |
11: 115,961,144 (GRCm39) |
Y404* |
probably null |
Het |
| Ush2a |
C |
A |
1: 188,092,063 (GRCm39) |
Y531* |
probably null |
Het |
| Vapa |
G |
A |
17: 65,889,736 (GRCm39) |
P144S |
probably benign |
Het |
| Vmn1r212 |
C |
T |
13: 23,067,443 (GRCm39) |
V297M |
possibly damaging |
Het |
| Vmn2r80 |
A |
C |
10: 79,030,712 (GRCm39) |
N846T |
probably damaging |
Het |
| Zfp811 |
A |
G |
17: 33,017,740 (GRCm39) |
V100A |
probably benign |
Het |
| Zfp958 |
T |
A |
8: 4,678,298 (GRCm39) |
C108S |
probably damaging |
Het |
| Zic5 |
G |
A |
14: 122,697,100 (GRCm39) |
T505I |
unknown |
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 |
|
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 |
|
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'- ATGCGAGTTAAACTCATGCGAG -3'
(R):5'- AAAGCTTGGGGTTTCAGAGTGC -3'
Sequencing Primer
(F):5'- CTCATGCGAGTTAAAAACGAGATC -3'
(R):5'- TCAGAGTGCTTTAGATTTCGGAG -3'
|
| Posted On |
2022-09-12 |
Incidental Mutation