Incidental Mutation 'PIT4418001:Ehbp1'
| ID |
555602 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Ehbp1
|
| Ensembl Gene |
ENSMUSG00000042302 |
| Gene Name |
EH domain binding protein 1 |
| Synonyms |
Flj21950, KIAA0903-like |
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.859)
|
| Stock # |
PIT4418001 (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 A
at 22003494 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamine to Leucine
at position 1085
(Q1085L)
|
| 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: Q1060L
PolyPhen 2
Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000037489
Gene: ENSMUSG00000042302
AA Change: Q1060L
| 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: Q1085L
PolyPhen 2
Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
|
| SMART Domains |
Protein: ENSMUSP00000105191
Gene: ENSMUSG00000042302
AA Change: Q1085L
| 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: Q1060L
PolyPhen 2
Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000136697
Gene: ENSMUSG00000042302
AA Change: Q1060L
| 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: 93.3%
- 3x: 90.8%
- 10x: 84.7%
- 20x: 71.4%
|
| 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: 68 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abtb1 |
T |
C |
6: 88,816,630 (GRCm39) |
Y100C |
possibly damaging |
Het |
| Adamtsl1 |
T |
C |
4: 86,161,961 (GRCm39) |
Y365H |
probably damaging |
Het |
| Atad2b |
A |
T |
12: 5,074,587 (GRCm39) |
I1049F |
probably benign |
Het |
| Atg9b |
A |
T |
5: 24,590,513 (GRCm39) |
S859T |
possibly damaging |
Het |
| Banp |
G |
A |
8: 122,732,365 (GRCm39) |
A380T |
probably damaging |
Het |
| Brinp3 |
C |
T |
1: 146,777,161 (GRCm39) |
T536I |
probably damaging |
Het |
| Cacna1c |
T |
C |
6: 118,631,384 (GRCm39) |
E1155G |
|
Het |
| Capn12 |
T |
C |
7: 28,585,961 (GRCm39) |
S270P |
probably benign |
Het |
| Cbs |
A |
T |
17: 31,834,495 (GRCm39) |
I498N |
possibly damaging |
Het |
| Cep68 |
T |
C |
11: 20,189,731 (GRCm39) |
K427R |
probably benign |
Het |
| Cobl |
G |
A |
11: 12,206,240 (GRCm39) |
T545I |
possibly damaging |
Het |
| Cr2 |
T |
A |
1: 194,839,760 (GRCm39) |
M556L |
probably benign |
Het |
| Crebbp |
A |
G |
16: 3,932,689 (GRCm39) |
S1068P |
probably benign |
Het |
| D2hgdh |
C |
T |
1: 93,766,590 (GRCm39) |
H385Y |
possibly damaging |
Het |
| Dennd1b |
T |
C |
1: 139,008,999 (GRCm39) |
L159P |
|
Het |
| Dnajb4 |
A |
T |
3: 151,899,134 (GRCm39) |
F31I |
possibly damaging |
Het |
| Dnajc16 |
A |
G |
4: 141,498,260 (GRCm39) |
F369S |
probably damaging |
Het |
| Dtl |
A |
T |
1: 191,273,429 (GRCm39) |
L493H |
possibly damaging |
Het |
| Efcab5 |
T |
A |
11: 77,022,877 (GRCm39) |
Q612L |
possibly damaging |
Het |
| Efr3b |
A |
T |
12: 4,030,490 (GRCm39) |
L407Q |
possibly damaging |
Het |
| Ell |
T |
C |
8: 71,034,331 (GRCm39) |
V199A |
probably damaging |
Het |
| Elmod2 |
G |
T |
8: 84,048,171 (GRCm39) |
T97K |
probably benign |
Het |
| Epn3 |
T |
C |
11: 94,386,956 (GRCm39) |
E138G |
probably damaging |
Het |
| Esf1 |
A |
T |
2: 140,001,697 (GRCm39) |
F383L |
probably benign |
Het |
| Fam193a |
A |
T |
5: 34,597,879 (GRCm39) |
T559S |
probably damaging |
Het |
| Galr2 |
T |
C |
11: 116,174,084 (GRCm39) |
V238A |
probably benign |
Het |
| Gm3476 |
T |
C |
14: 6,118,411 (GRCm38) |
I237M |
probably benign |
Het |
| Gm5160 |
A |
T |
18: 14,558,339 (GRCm39) |
I139F |
probably damaging |
Het |
| Gpr15 |
T |
C |
16: 58,538,313 (GRCm39) |
T259A |
probably benign |
Het |
| Iffo1 |
A |
G |
6: 125,126,746 (GRCm39) |
K293E |
possibly damaging |
Het |
| Ikbip |
T |
A |
10: 90,932,395 (GRCm39) |
H346Q |
probably benign |
Het |
| Il4ra |
G |
A |
7: 125,175,510 (GRCm39) |
G573S |
probably benign |
Het |
| Ing2 |
A |
T |
8: 48,122,125 (GRCm39) |
M141K |
probably benign |
Het |
| Itga6 |
T |
C |
2: 71,664,414 (GRCm39) |
S517P |
probably benign |
Het |
| Itprid1 |
T |
G |
6: 55,945,330 (GRCm39) |
S684A |
probably damaging |
Het |
| Kcnab1 |
A |
G |
3: 65,265,741 (GRCm39) |
E295G |
probably benign |
Het |
| Klhl21 |
A |
C |
4: 152,099,835 (GRCm39) |
Y515S |
possibly damaging |
Het |
| Lcn9 |
A |
T |
2: 25,714,553 (GRCm39) |
Y139F |
probably damaging |
Het |
| Mcemp1 |
G |
T |
8: 3,717,052 (GRCm39) |
L64F |
probably null |
Het |
| Mos |
T |
C |
4: 3,870,814 (GRCm39) |
D334G |
possibly damaging |
Het |
| Myo9b |
T |
G |
8: 71,775,591 (GRCm39) |
F338V |
probably damaging |
Het |
| Nefl |
G |
A |
14: 68,323,979 (GRCm39) |
V406M |
probably damaging |
Het |
| Nfam1 |
C |
A |
15: 82,885,689 (GRCm39) |
R181L |
probably damaging |
Het |
| Ntn5 |
A |
G |
7: 45,335,925 (GRCm39) |
R119G |
probably damaging |
Het |
| Or12e10 |
G |
T |
2: 87,640,938 (GRCm39) |
C258F |
probably damaging |
Het |
| Or5b101 |
A |
T |
19: 13,005,095 (GRCm39) |
Y199* |
probably null |
Het |
| Or7a40 |
T |
C |
16: 16,491,719 (GRCm39) |
N42S |
probably damaging |
Het |
| Plch2 |
A |
T |
4: 155,073,960 (GRCm39) |
V914E |
probably damaging |
Het |
| Ppp1r12c |
T |
C |
7: 4,504,266 (GRCm39) |
Q111R |
probably null |
Het |
| Ptchd3 |
T |
A |
11: 121,732,566 (GRCm39) |
Y485* |
probably null |
Het |
| Ptchd4 |
T |
A |
17: 42,813,980 (GRCm39) |
I627N |
probably damaging |
Het |
| Retnlb |
T |
C |
16: 48,637,631 (GRCm39) |
V19A |
probably benign |
Het |
| Rimbp2 |
T |
A |
5: 128,857,425 (GRCm39) |
T809S |
probably benign |
Het |
| Sema6c |
T |
A |
3: 95,077,401 (GRCm39) |
D404E |
possibly damaging |
Het |
| Slc22a16 |
C |
T |
10: 40,479,821 (GRCm39) |
A631V |
unknown |
Het |
| Snai3 |
A |
T |
8: 123,183,073 (GRCm39) |
H157Q |
probably benign |
Het |
| Snx15 |
T |
C |
19: 6,173,961 (GRCm39) |
Y52C |
probably damaging |
Het |
| Strbp |
T |
C |
2: 37,535,504 (GRCm39) |
E68G |
probably benign |
Het |
| Sun1 |
T |
A |
5: 139,212,343 (GRCm39) |
D155E |
probably damaging |
Het |
| Susd2 |
T |
C |
10: 75,474,183 (GRCm39) |
D627G |
probably benign |
Het |
| Tas2r108 |
T |
A |
6: 40,470,614 (GRCm39) |
I30K |
probably damaging |
Het |
| Tmc2 |
T |
C |
2: 130,090,571 (GRCm39) |
V639A |
probably damaging |
Het |
| Trmt1 |
T |
C |
8: 85,424,299 (GRCm39) |
Y445H |
probably damaging |
Het |
| Ttn |
A |
T |
2: 76,597,554 (GRCm39) |
N19786K |
probably damaging |
Het |
| Vmn1r79 |
T |
G |
7: 11,910,766 (GRCm39) |
V216G |
probably damaging |
Het |
| Wdr64 |
C |
A |
1: 175,571,160 (GRCm39) |
Y331* |
probably null |
Het |
| Zfyve28 |
A |
T |
5: 34,390,721 (GRCm39) |
V180E |
probably damaging |
Het |
| Zic4 |
C |
T |
9: 91,261,447 (GRCm39) |
T234I |
possibly 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 |
|
|
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 |
|
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'- AAGGCGCTCTTATCACCAGG -3'
(R):5'- CTAAGGCTGAGGCTAAGTGTATG -3'
Sequencing Primer
(F):5'- TTATCACCAGGGCCCAGAGAG -3'
(R):5'- AGGCTAAGTGTATGTTTGCTTCTC -3'
|
| Posted On |
2019-06-07 |
Incidental Mutation