Incidental Mutation 'R7797:Ehbp1'
ID |
600297 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Ehbp1
|
Ensembl Gene |
ENSMUSG00000042302 |
Gene Name |
EH domain binding protein 1 |
Synonyms |
Flj21950, KIAA0903-like |
MMRRC Submission |
045853-MU
|
Accession Numbers |
|
Essential gene? |
Probably essential
(E-score: 0.829)
|
Stock # |
R7797 (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 22046109 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Methionine to Valine
at position 547
(M547V)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000105191
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000045167]
[ENSMUST00000109563]
[ENSMUST00000180360]
|
AlphaFold |
Q69ZW3 |
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000045167
AA Change: M522V
PolyPhen 2
Score 0.915 (Sensitivity: 0.81; Specificity: 0.94)
|
SMART Domains |
Protein: ENSMUSP00000037489 Gene: ENSMUSG00000042302 AA Change: M522V
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: M547V
PolyPhen 2
Score 0.789 (Sensitivity: 0.85; Specificity: 0.93)
|
SMART Domains |
Protein: ENSMUSP00000105191 Gene: ENSMUSG00000042302 AA Change: M547V
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 |
possibly damaging
Transcript: ENSMUST00000180360
AA Change: M522V
PolyPhen 2
Score 0.915 (Sensitivity: 0.81; Specificity: 0.94)
|
SMART Domains |
Protein: ENSMUSP00000136697 Gene: ENSMUSG00000042302 AA Change: M522V
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: 100.0%
- 3x: 99.9%
- 10x: 99.6%
- 20x: 98.9%
|
Validation Efficiency |
100% (68/68) |
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: 65 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abca8b |
A |
G |
11: 109,862,509 (GRCm39) |
|
probably null |
Het |
Adam3 |
T |
G |
8: 25,184,660 (GRCm39) |
N535T |
probably damaging |
Het |
Adam34l |
T |
A |
8: 44,079,411 (GRCm39) |
E271V |
probably benign |
Het |
Adamts4 |
A |
G |
1: 171,085,387 (GRCm39) |
K679E |
probably damaging |
Het |
Arnt |
G |
A |
3: 95,387,572 (GRCm39) |
|
probably null |
Het |
Asah2 |
A |
G |
19: 31,999,761 (GRCm39) |
F321L |
probably damaging |
Het |
Asb15 |
T |
C |
6: 24,562,505 (GRCm39) |
S156P |
probably damaging |
Het |
Baiap2l1 |
A |
C |
5: 144,255,760 (GRCm39) |
S65A |
probably damaging |
Het |
Bend7 |
T |
G |
2: 4,754,455 (GRCm39) |
M186R |
probably damaging |
Het |
Blnk |
T |
C |
19: 40,948,232 (GRCm39) |
K146E |
possibly damaging |
Het |
Cd19 |
A |
G |
7: 126,012,680 (GRCm39) |
W238R |
probably damaging |
Het |
Cd44 |
T |
A |
2: 102,679,079 (GRCm39) |
N241I |
probably benign |
Het |
Cdh23 |
T |
C |
10: 60,220,973 (GRCm39) |
E1257G |
probably benign |
Het |
Cfap300 |
G |
T |
9: 8,027,130 (GRCm39) |
P136Q |
possibly damaging |
Het |
Cntnap5c |
T |
C |
17: 58,666,270 (GRCm39) |
V1100A |
probably benign |
Het |
Cul7 |
T |
C |
17: 46,969,568 (GRCm39) |
V945A |
possibly damaging |
Het |
Dock2 |
C |
T |
11: 34,232,652 (GRCm39) |
C1116Y |
probably damaging |
Het |
Fam50b |
G |
A |
13: 34,931,084 (GRCm39) |
E187K |
possibly damaging |
Het |
Grhl3 |
C |
G |
4: 135,286,416 (GRCm39) |
K88N |
possibly damaging |
Het |
Hbb-y |
T |
A |
7: 103,501,088 (GRCm39) |
Y146F |
probably damaging |
Het |
Hivep2 |
T |
C |
10: 14,005,847 (GRCm39) |
V815A |
probably benign |
Het |
Hoxa7 |
T |
A |
6: 52,192,870 (GRCm39) |
I173F |
probably damaging |
Het |
Igkv1-110 |
T |
G |
6: 68,247,977 (GRCm39) |
S29A |
probably benign |
Het |
Jade2 |
A |
G |
11: 51,708,126 (GRCm39) |
S696P |
probably benign |
Het |
Kif1b |
T |
A |
4: 149,321,844 (GRCm39) |
Q1025L |
probably benign |
Het |
Kif2c |
A |
T |
4: 117,028,940 (GRCm39) |
C241S |
probably benign |
Het |
Kmt2d |
G |
T |
15: 98,762,287 (GRCm39) |
H400N |
probably benign |
Het |
Krt35 |
T |
A |
11: 99,985,713 (GRCm39) |
N174Y |
probably damaging |
Het |
Ldlrad1 |
G |
A |
4: 107,066,688 (GRCm39) |
A8T |
probably benign |
Het |
Magi3 |
A |
G |
3: 103,958,618 (GRCm39) |
V489A |
probably damaging |
Het |
Mapk7 |
T |
C |
11: 61,380,241 (GRCm39) |
E739G |
possibly damaging |
Het |
Mcidas |
G |
A |
13: 113,135,521 (GRCm39) |
G315S |
probably damaging |
Het |
Mdga1 |
C |
T |
17: 30,061,814 (GRCm39) |
|
probably null |
Het |
Megf8 |
G |
A |
7: 25,034,022 (GRCm39) |
R607H |
probably damaging |
Het |
Met |
T |
A |
6: 17,533,952 (GRCm39) |
N634K |
probably damaging |
Het |
Miip |
C |
T |
4: 147,947,375 (GRCm39) |
G236S |
probably benign |
Het |
Mmp11 |
G |
T |
10: 75,759,314 (GRCm39) |
T107K |
|
Het |
Mroh2b |
A |
C |
15: 4,978,587 (GRCm39) |
N1378H |
probably benign |
Het |
Naa15 |
G |
A |
3: 51,356,031 (GRCm39) |
C322Y |
probably damaging |
Het |
Naip1 |
T |
A |
13: 100,580,986 (GRCm39) |
Y87F |
probably damaging |
Het |
Ngrn |
A |
G |
7: 79,914,185 (GRCm39) |
D112G |
probably benign |
Het |
Osbpl1a |
C |
A |
18: 13,015,321 (GRCm39) |
C369F |
probably damaging |
Het |
Pcnx2 |
G |
C |
8: 126,512,087 (GRCm39) |
D1406E |
possibly damaging |
Het |
Phf8-ps |
T |
C |
17: 33,286,664 (GRCm39) |
D46G |
probably damaging |
Het |
Pold1 |
G |
A |
7: 44,191,213 (GRCm39) |
P206L |
probably benign |
Het |
Psen1 |
A |
G |
12: 83,746,396 (GRCm39) |
S20G |
probably benign |
Het |
Ptpn23 |
C |
T |
9: 110,222,875 (GRCm39) |
D61N |
possibly damaging |
Het |
Rbfox3 |
A |
T |
11: 118,387,310 (GRCm39) |
L268Q |
possibly damaging |
Het |
Rbm22 |
A |
G |
18: 60,694,344 (GRCm39) |
T26A |
probably damaging |
Het |
Rpgrip1 |
G |
A |
14: 52,371,277 (GRCm39) |
R332Q |
possibly damaging |
Het |
Rrm2b |
A |
T |
15: 37,927,505 (GRCm39) |
L347* |
probably null |
Het |
Rsf1 |
A |
T |
7: 97,310,692 (GRCm39) |
D474V |
|
Het |
Ryr2 |
C |
T |
13: 11,816,066 (GRCm39) |
R640Q |
probably damaging |
Het |
Sec16b |
A |
G |
1: 157,389,245 (GRCm39) |
E691G |
unknown |
Het |
Septin1 |
A |
T |
7: 126,813,937 (GRCm39) |
V365E |
unknown |
Het |
Tlk2 |
A |
G |
11: 105,101,444 (GRCm39) |
H114R |
probably benign |
Het |
Tmem200a |
A |
G |
10: 25,869,864 (GRCm39) |
I135T |
possibly damaging |
Het |
Tpst2 |
T |
A |
5: 112,455,782 (GRCm39) |
V107E |
probably damaging |
Het |
Trim30a |
A |
T |
7: 104,060,407 (GRCm39) |
D456E |
possibly damaging |
Het |
Ttll3 |
T |
C |
6: 113,371,738 (GRCm39) |
V45A |
possibly damaging |
Het |
Ulk2 |
A |
G |
11: 61,672,928 (GRCm39) |
Y889H |
probably benign |
Het |
Umodl1 |
A |
G |
17: 31,178,125 (GRCm39) |
S34G |
probably benign |
Het |
Vmn1r67 |
A |
G |
7: 10,180,903 (GRCm39) |
I56V |
probably benign |
Het |
Vmn2r120 |
C |
T |
17: 57,815,874 (GRCm39) |
G827E |
probably damaging |
Het |
Zc3h6 |
T |
C |
2: 128,857,555 (GRCm39) |
|
probably null |
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 |
|
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'- AGTTACAAACACAGAGTCATCCTG -3'
(R):5'- GTGTCAGTAATTTTATGTGCCCTAC -3'
Sequencing Primer
(F):5'- AGGTTCAGGCTCTCGCTTCAG -3'
(R):5'- CTCAGTGTACCGTCTGTT -3'
|
Posted On |
2019-11-26 |