Incidental Mutation 'R1493:Ehbp1'
ID |
165569 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Ehbp1
|
Ensembl Gene |
ENSMUSG00000042302 |
Gene Name |
EH domain binding protein 1 |
Synonyms |
Flj21950, KIAA0903-like |
MMRRC Submission |
039544-MU
|
Accession Numbers |
|
Essential gene? |
Probably essential
(E-score: 0.829)
|
Stock # |
R1493 (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 A
at 21956866 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Glutamic Acid to Valine
at position 1204
(E1204V)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000105191
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000045167]
[ENSMUST00000109563]
[ENSMUST00000147486]
[ENSMUST00000180360]
|
AlphaFold |
Q69ZW3 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000045167
AA Change: E1179V
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000037489 Gene: ENSMUSG00000042302 AA Change: E1179V
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: E1204V
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000105191 Gene: ENSMUSG00000042302 AA Change: E1204V
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: ENSMUST00000147486
|
SMART Domains |
Protein: ENSMUSP00000134704 Gene: ENSMUSG00000005917
Domain | Start | End | E-Value | Type |
HOX
|
38 |
100 |
1.21e-25 |
SMART |
low complexity region
|
117 |
125 |
N/A |
INTRINSIC |
low complexity region
|
133 |
147 |
N/A |
INTRINSIC |
|
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000180360
AA Change: E1179V
PolyPhen 2
Score 0.621 (Sensitivity: 0.87; Specificity: 0.91)
|
SMART Domains |
Protein: ENSMUSP00000136697 Gene: ENSMUSG00000042302 AA Change: E1179V
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: 99.0%
- 3x: 98.2%
- 10x: 96.2%
- 20x: 92.9%
|
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: 57 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
2810021J22Rik |
T |
C |
11: 58,767,544 (GRCm39) |
S14P |
probably damaging |
Het |
Abca15 |
A |
T |
7: 119,981,513 (GRCm39) |
D989V |
probably benign |
Het |
Abcg8 |
T |
C |
17: 85,004,107 (GRCm39) |
S472P |
probably damaging |
Het |
Ablim2 |
T |
C |
5: 35,966,605 (GRCm39) |
F178S |
probably damaging |
Het |
Adprm |
A |
G |
11: 66,932,702 (GRCm39) |
V69A |
possibly damaging |
Het |
Ankrd27 |
C |
T |
7: 35,307,790 (GRCm39) |
S343L |
probably benign |
Het |
Arfgef3 |
A |
G |
10: 18,506,627 (GRCm39) |
S833P |
probably damaging |
Het |
Arhgap42 |
T |
G |
9: 9,030,798 (GRCm39) |
E339D |
probably benign |
Het |
Axdnd1 |
T |
A |
1: 156,174,271 (GRCm39) |
M799L |
probably benign |
Het |
Cars2 |
A |
T |
8: 11,567,817 (GRCm39) |
|
probably null |
Het |
Cd7 |
T |
C |
11: 120,928,967 (GRCm39) |
T95A |
probably damaging |
Het |
Cep290 |
A |
T |
10: 100,398,043 (GRCm39) |
T2200S |
probably benign |
Het |
Cep44 |
A |
G |
8: 56,985,870 (GRCm39) |
S299P |
probably damaging |
Het |
Cfap58 |
C |
T |
19: 47,976,943 (GRCm39) |
H731Y |
probably damaging |
Het |
Fgd5 |
A |
G |
6: 91,964,612 (GRCm39) |
K124E |
probably benign |
Het |
Folh1 |
T |
C |
7: 86,410,938 (GRCm39) |
D268G |
probably damaging |
Het |
Gm4559 |
A |
T |
7: 141,828,050 (GRCm39) |
C17* |
probably null |
Het |
Helz |
A |
G |
11: 107,504,751 (GRCm39) |
I413V |
probably benign |
Het |
Hexd |
A |
G |
11: 121,112,093 (GRCm39) |
I438V |
probably benign |
Het |
Hrh1 |
G |
A |
6: 114,457,838 (GRCm39) |
G373D |
probably damaging |
Het |
Hs3st5 |
G |
A |
10: 36,708,870 (GRCm39) |
G135D |
probably damaging |
Het |
Iqcf6 |
T |
C |
9: 106,504,641 (GRCm39) |
Y102H |
probably benign |
Het |
Kmt2a |
A |
T |
9: 44,758,202 (GRCm39) |
S1124R |
probably damaging |
Het |
Map3k5 |
A |
G |
10: 19,904,859 (GRCm39) |
D387G |
probably damaging |
Het |
Morc2a |
A |
G |
11: 3,628,557 (GRCm39) |
N337D |
probably benign |
Het |
Musk |
C |
T |
4: 58,354,003 (GRCm39) |
A352V |
probably benign |
Het |
Myef2l |
A |
G |
3: 10,153,944 (GRCm39) |
K238E |
probably damaging |
Het |
Nans |
G |
A |
4: 46,500,761 (GRCm39) |
E218K |
probably damaging |
Het |
Niban1 |
T |
A |
1: 151,581,841 (GRCm39) |
V479D |
probably damaging |
Het |
Ninl |
T |
G |
2: 150,822,015 (GRCm39) |
D29A |
probably damaging |
Het |
Nod1 |
A |
G |
6: 54,921,041 (GRCm39) |
F426L |
probably damaging |
Het |
Notch4 |
T |
A |
17: 34,786,656 (GRCm39) |
C265* |
probably null |
Het |
Nsd3 |
A |
G |
8: 26,203,407 (GRCm39) |
D1307G |
probably benign |
Het |
Or51h1 |
T |
C |
7: 102,308,220 (GRCm39) |
L64P |
probably damaging |
Het |
Or52e18 |
T |
A |
7: 104,609,709 (GRCm39) |
T77S |
probably damaging |
Het |
Orai3 |
G |
A |
7: 127,373,077 (GRCm39) |
V193M |
possibly damaging |
Het |
Prkag1 |
T |
C |
15: 98,711,551 (GRCm39) |
Y271C |
probably benign |
Het |
Rfc4 |
T |
C |
16: 22,936,758 (GRCm39) |
I116V |
probably damaging |
Het |
Ric1 |
T |
C |
19: 29,557,249 (GRCm39) |
Y445H |
probably benign |
Het |
Rnmt |
G |
A |
18: 68,446,778 (GRCm39) |
D268N |
probably damaging |
Het |
Rsph1 |
C |
T |
17: 31,484,873 (GRCm39) |
G139D |
probably damaging |
Het |
Sez6l2 |
C |
A |
7: 126,560,984 (GRCm39) |
P483Q |
probably damaging |
Het |
Sgo2b |
A |
G |
8: 64,379,889 (GRCm39) |
L981P |
probably damaging |
Het |
Shmt2 |
A |
G |
10: 127,354,812 (GRCm39) |
|
probably null |
Het |
Sorbs3 |
T |
C |
14: 70,430,076 (GRCm39) |
T353A |
possibly damaging |
Het |
Stk25 |
T |
C |
1: 93,553,322 (GRCm39) |
T260A |
probably benign |
Het |
Tasor |
A |
G |
14: 27,171,926 (GRCm39) |
S425G |
probably damaging |
Het |
Thap12 |
A |
G |
7: 98,364,645 (GRCm39) |
H271R |
probably benign |
Het |
Tmprss13 |
A |
G |
9: 45,247,405 (GRCm39) |
T256A |
probably benign |
Het |
Tpo |
A |
T |
12: 30,181,808 (GRCm39) |
I29N |
possibly damaging |
Het |
Trpc2 |
A |
T |
7: 101,739,783 (GRCm39) |
N569I |
probably damaging |
Het |
Unc13c |
T |
C |
9: 73,546,350 (GRCm39) |
T1607A |
probably benign |
Het |
Vldlr |
A |
G |
19: 27,218,691 (GRCm39) |
N514S |
probably benign |
Het |
Vps18 |
A |
G |
2: 119,127,613 (GRCm39) |
Y812C |
probably damaging |
Het |
Zfp692 |
A |
T |
11: 58,204,866 (GRCm39) |
I409F |
probably damaging |
Het |
Zfp735 |
G |
A |
11: 73,601,305 (GRCm39) |
C83Y |
possibly damaging |
Het |
Zic1 |
A |
G |
9: 91,246,809 (GRCm39) |
S88P |
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 |
|
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 |
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'- AGCATCTTCAGTACCAGTCATTCACG -3'
(R):5'- GTTCATTTCGGGAATCTGAGAGGTCC -3'
Sequencing Primer
(F):5'- CGCAAATCTACTTCACAGGATTTC -3'
(R):5'- AATCTGAGAGGTCCGGTGC -3'
|
Posted On |
2014-03-28 |