Incidental Mutation 'R8218:Ehbp1'
| ID |
636495 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Ehbp1
|
| Ensembl Gene |
ENSMUSG00000042302 |
| Gene Name |
EH domain binding protein 1 |
| Synonyms |
Flj21950, KIAA0903-like |
| MMRRC Submission |
067637-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.829)
|
| Stock # |
R8218 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
11 |
| Chromosomal Location |
21955825-22237086 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 22046096 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Tyrosine to Cysteine
at position 551
(Y551C)
|
| 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: Y526C
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000037489
Gene: ENSMUSG00000042302
AA Change: Y526C
| 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 |
possibly damaging
Transcript: ENSMUST00000109563
AA Change: Y551C
PolyPhen 2
Score 0.772 (Sensitivity: 0.85; Specificity: 0.92)
|
| SMART Domains |
Protein: ENSMUSP00000105191
Gene: ENSMUSG00000042302
AA Change: Y551C
| 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: Y526C
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000136697
Gene: ENSMUSG00000042302
AA Change: Y526C
| 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 |
99% (72/73) |
| 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: 74 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 5031439G07Rik |
G |
A |
15: 84,839,668 (GRCm39) |
H191Y |
probably damaging |
Het |
| 5730480H06Rik |
T |
A |
5: 48,536,769 (GRCm39) |
L155* |
probably null |
Het |
| Ackr4 |
T |
C |
9: 103,976,410 (GRCm39) |
N179S |
probably benign |
Het |
| Acp5 |
T |
C |
9: 22,040,902 (GRCm39) |
Y107C |
probably damaging |
Het |
| Aff4 |
A |
T |
11: 53,289,084 (GRCm39) |
H411L |
probably damaging |
Het |
| Atp5pb |
A |
G |
3: 105,866,502 (GRCm39) |
M1T |
probably null |
Het |
| Atp8b5 |
G |
A |
4: 43,372,728 (GRCm39) |
|
probably null |
Het |
| C1qtnf2 |
A |
G |
11: 43,381,775 (GRCm39) |
T166A |
possibly damaging |
Het |
| Dctn2 |
A |
G |
10: 127,112,398 (GRCm39) |
D170G |
probably damaging |
Het |
| Dennd3 |
T |
A |
15: 73,384,622 (GRCm39) |
S10T |
probably benign |
Het |
| Eif4g2 |
A |
T |
7: 110,673,639 (GRCm39) |
D743E |
possibly damaging |
Het |
| Esr1 |
G |
A |
10: 4,696,808 (GRCm39) |
|
probably null |
Het |
| Exo1 |
A |
T |
1: 175,728,480 (GRCm39) |
I515L |
probably benign |
Het |
| Fam83h |
C |
T |
15: 75,874,886 (GRCm39) |
G817D |
probably damaging |
Het |
| Flvcr2 |
GTAGTGTATA |
GTA |
12: 85,849,922 (GRCm39) |
|
probably null |
Het |
| Garin1a |
T |
C |
6: 29,286,072 (GRCm39) |
I177T |
probably damaging |
Het |
| Gcn1 |
G |
A |
5: 115,719,588 (GRCm39) |
S361N |
probably benign |
Het |
| Gm6337 |
C |
T |
14: 6,050,613 (GRCm38) |
|
probably null |
Het |
| Grk4 |
T |
A |
5: 34,826,540 (GRCm39) |
S47T |
probably benign |
Het |
| Gstp2 |
C |
A |
19: 4,091,668 (GRCm39) |
M20I |
probably benign |
Het |
| Harbi1 |
T |
C |
2: 91,543,237 (GRCm39) |
F233L |
probably benign |
Het |
| Iqch |
C |
T |
9: 63,389,915 (GRCm39) |
V755I |
possibly damaging |
Het |
| Iws1 |
T |
C |
18: 32,226,688 (GRCm39) |
F756L |
probably benign |
Het |
| Kcnh6 |
T |
G |
11: 105,908,200 (GRCm39) |
V272G |
possibly damaging |
Het |
| Kcnj10 |
C |
T |
1: 172,196,539 (GRCm39) |
R18C |
probably damaging |
Het |
| Kmt2c |
A |
C |
5: 25,488,104 (GRCm39) |
S4670A |
probably damaging |
Het |
| Krt80 |
T |
G |
15: 101,267,884 (GRCm39) |
M18L |
probably benign |
Het |
| Lbx1 |
A |
G |
19: 45,223,359 (GRCm39) |
V103A |
probably benign |
Het |
| Marchf8 |
A |
T |
6: 116,315,059 (GRCm39) |
|
probably benign |
Het |
| Muc16 |
T |
A |
9: 18,548,315 (GRCm39) |
T5993S |
possibly damaging |
Het |
| Or10ag57 |
C |
T |
2: 87,218,922 (GRCm39) |
T291I |
probably damaging |
Het |
| Or1j17 |
A |
G |
2: 36,578,685 (GRCm39) |
T224A |
probably benign |
Het |
| Or1o4 |
A |
G |
17: 37,590,711 (GRCm39) |
V200A |
probably benign |
Het |
| Or8k17 |
C |
T |
2: 86,066,862 (GRCm39) |
V106M |
probably benign |
Het |
| Pbxip1 |
A |
G |
3: 89,352,902 (GRCm39) |
I183V |
probably benign |
Het |
| Pcdh20 |
T |
A |
14: 88,706,047 (GRCm39) |
I418F |
probably damaging |
Het |
| Pclo |
T |
C |
5: 14,725,677 (GRCm39) |
F1512L |
unknown |
Het |
| Phf2 |
G |
T |
13: 48,958,104 (GRCm39) |
T970K |
unknown |
Het |
| Pidd1 |
A |
G |
7: 141,019,566 (GRCm39) |
V698A |
probably damaging |
Het |
| Pik3ca |
T |
A |
3: 32,491,996 (GRCm39) |
V198D |
possibly damaging |
Het |
| Pip5k1c |
T |
A |
10: 81,142,250 (GRCm39) |
D153E |
probably damaging |
Het |
| Ppfia2 |
A |
G |
10: 106,699,236 (GRCm39) |
D795G |
probably benign |
Het |
| Pramel12 |
A |
T |
4: 143,145,706 (GRCm39) |
I392F |
probably benign |
Het |
| Prkar2a |
C |
A |
9: 108,596,448 (GRCm39) |
A131D |
possibly damaging |
Het |
| Pter |
A |
G |
2: 12,985,366 (GRCm39) |
D232G |
probably damaging |
Het |
| Qser1 |
C |
T |
2: 104,593,268 (GRCm39) |
R1583Q |
probably damaging |
Het |
| Rasal2 |
A |
C |
1: 156,984,951 (GRCm39) |
V932G |
probably damaging |
Het |
| Rasgrf2 |
G |
A |
13: 92,130,796 (GRCm39) |
A154V |
|
Het |
| Rbm4 |
A |
G |
19: 4,837,444 (GRCm39) |
Y347H |
probably damaging |
Het |
| Rfxank |
C |
A |
8: 70,584,085 (GRCm39) |
|
probably null |
Het |
| Robo1 |
C |
G |
16: 72,786,678 (GRCm39) |
R897G |
possibly damaging |
Het |
| Sash1 |
G |
A |
10: 8,627,000 (GRCm39) |
T364I |
probably damaging |
Het |
| Skint6 |
T |
A |
4: 112,696,471 (GRCm39) |
|
probably null |
Het |
| Slc22a4 |
T |
A |
11: 53,877,407 (GRCm39) |
M495L |
probably benign |
Het |
| Slc39a8 |
G |
A |
3: 135,563,325 (GRCm39) |
V212I |
probably benign |
Het |
| Slc40a1 |
A |
C |
1: 45,950,129 (GRCm39) |
V441G |
probably benign |
Het |
| Slc7a11 |
A |
T |
3: 50,378,501 (GRCm39) |
Y246N |
probably damaging |
Het |
| Spata9 |
T |
C |
13: 76,125,892 (GRCm39) |
V125A |
probably benign |
Het |
| Svopl |
T |
A |
6: 37,991,741 (GRCm39) |
M380L |
probably benign |
Het |
| Sycp2l |
T |
C |
13: 41,271,544 (GRCm39) |
Y23H |
probably damaging |
Het |
| Syt11 |
A |
T |
3: 88,669,427 (GRCm39) |
V155E |
probably benign |
Het |
| Syt5 |
T |
C |
7: 4,545,822 (GRCm39) |
Y147C |
probably damaging |
Het |
| Thg1l |
T |
C |
11: 45,846,277 (GRCm39) |
T6A |
probably benign |
Het |
| Tlr2 |
A |
G |
3: 83,745,546 (GRCm39) |
L179P |
probably damaging |
Het |
| Tsn |
A |
T |
1: 118,232,984 (GRCm39) |
Y107N |
probably damaging |
Het |
| Tspan32 |
A |
T |
7: 142,564,832 (GRCm39) |
Y114F |
probably benign |
Het |
| Tube1 |
A |
C |
10: 39,023,375 (GRCm39) |
S341R |
possibly damaging |
Het |
| Ubn2 |
T |
A |
6: 38,466,214 (GRCm39) |
V516D |
probably benign |
Het |
| Vmn1r21 |
G |
T |
6: 57,820,910 (GRCm39) |
T178K |
noncoding transcript |
Het |
| Vmn2r108 |
A |
G |
17: 20,683,465 (GRCm39) |
Y580H |
probably damaging |
Het |
| Wdr75 |
T |
A |
1: 45,857,342 (GRCm39) |
F546L |
probably damaging |
Het |
| Yy1 |
A |
G |
12: 108,759,619 (GRCm39) |
D94G |
probably benign |
Het |
| Zfhx3 |
A |
G |
8: 109,677,349 (GRCm39) |
T2800A |
probably benign |
Het |
| Zfy2 |
T |
C |
Y: 2,133,421 (GRCm39) |
T9A |
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 |
|
|
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'- GTTACAAACACAGAGTCATCCTGC -3'
(R):5'- GTGTCAGTAATTTTATGTGCCCTAC -3'
Sequencing Primer
(F):5'- AGAGTCATCCTGCGACAGC -3'
(R):5'- GGCTTACGATGGATTTGC -3'
|
| Posted On |
2020-07-13 |
Incidental Mutation