Incidental Mutation 'R8334:Ehbp1'
| ID |
644532 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Ehbp1
|
| Ensembl Gene |
ENSMUSG00000042302 |
| Gene Name |
EH domain binding protein 1 |
| Synonyms |
Flj21950, KIAA0903-like |
| MMRRC Submission |
067862-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.859)
|
| Stock # |
R8334 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
11 |
| Chromosomal Location |
21955825-22237086 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to A
at 21957170 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Arginine to Leucine
at position 1173
(R1173L)
|
| 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: R1148L
PolyPhen 2
Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
|
| SMART Domains |
Protein: ENSMUSP00000037489
Gene: ENSMUSG00000042302
AA Change: R1148L
| 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: R1173L
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000105191
Gene: ENSMUSG00000042302
AA Change: R1173L
| 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 |
probably damaging
Transcript: ENSMUST00000180360
AA Change: R1148L
PolyPhen 2
Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
|
| SMART Domains |
Protein: ENSMUSP00000136697
Gene: ENSMUSG00000042302
AA Change: R1148L
| 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: 99.7%
- 20x: 99.0%
|
| Validation Efficiency |
98% (63/64) |
| 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: 69 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca8a |
A |
T |
11: 109,959,650 (GRCm39) |
S696T |
probably damaging |
Het |
| Abhd12 |
T |
C |
2: 150,700,373 (GRCm39) |
I75V |
probably benign |
Het |
| Adamts9 |
T |
C |
6: 92,914,225 (GRCm39) |
|
probably null |
Het |
| Ap2a1 |
C |
T |
7: 44,554,135 (GRCm39) |
V499I |
possibly damaging |
Het |
| Arhgef16 |
T |
A |
4: 154,367,224 (GRCm39) |
K394* |
probably null |
Het |
| Armc2 |
A |
G |
10: 41,799,761 (GRCm39) |
F699S |
probably damaging |
Het |
| Atat1 |
C |
T |
17: 36,220,150 (GRCm39) |
|
probably null |
Het |
| Atm |
A |
G |
9: 53,433,573 (GRCm39) |
S226P |
probably benign |
Het |
| Bcas3 |
A |
G |
11: 85,467,637 (GRCm39) |
T687A |
possibly damaging |
Het |
| Bmp2k |
T |
C |
5: 97,175,753 (GRCm39) |
M78T |
possibly damaging |
Het |
| Brinp3 |
T |
A |
1: 146,777,791 (GRCm39) |
L746H |
probably damaging |
Het |
| Capn8 |
G |
A |
1: 182,438,670 (GRCm39) |
|
probably null |
Het |
| Ccdc154 |
T |
A |
17: 25,390,581 (GRCm39) |
F602I |
probably damaging |
Het |
| Celsr3 |
CGGGG |
CGGGGG |
9: 108,718,471 (GRCm39) |
|
probably null |
Het |
| Chd3 |
A |
G |
11: 69,241,622 (GRCm39) |
F1504L |
probably damaging |
Het |
| Cpsf1 |
A |
T |
15: 76,487,787 (GRCm39) |
N77K |
probably benign |
Het |
| Crybb3 |
T |
A |
5: 113,223,845 (GRCm39) |
Q188L |
possibly damaging |
Het |
| Dnah8 |
T |
A |
17: 30,988,805 (GRCm39) |
H3258Q |
probably benign |
Het |
| Dnajb6 |
C |
T |
5: 29,986,238 (GRCm39) |
R269W |
unknown |
Het |
| Dusp9 |
TAAAGCGGAGGCCAAAGCGGAGGCCAAAGCGGAGGCTAAAGCGGAGGCCAAAGCGGAGGCCAAAGCGGAGGCCAAAGCGGAGGCTAAAGCGGAGGCCAAAGCGGAGGCCAAAG |
TAAAGCGGAGGCCAAAGCGGAGGCCAAAGCGGAGGCTAAAGCGGAGGCCAAAGCGGAGGCCAAAG |
X: 72,684,217 (GRCm39) |
|
probably benign |
Het |
| Ech1 |
A |
G |
7: 28,531,248 (GRCm39) |
I279V |
probably benign |
Het |
| Ehd4 |
T |
C |
2: 119,967,545 (GRCm39) |
E83G |
probably damaging |
Het |
| Epha7 |
A |
G |
4: 28,938,777 (GRCm39) |
E544G |
probably benign |
Het |
| Esp23 |
A |
G |
17: 39,384,795 (GRCm39) |
V67A |
possibly damaging |
Het |
| Etl4 |
T |
C |
2: 20,785,857 (GRCm39) |
V726A |
probably damaging |
Het |
| Fbxo39 |
G |
A |
11: 72,208,470 (GRCm39) |
W274* |
probably null |
Het |
| Filip1l |
T |
C |
16: 57,390,510 (GRCm39) |
I366T |
probably benign |
Het |
| Gm4841 |
T |
C |
18: 60,404,054 (GRCm39) |
D13G |
probably benign |
Het |
| Gtpbp2 |
T |
A |
17: 46,477,368 (GRCm39) |
F411Y |
possibly damaging |
Het |
| Kmt5b |
G |
T |
19: 3,864,795 (GRCm39) |
V620L |
probably benign |
Het |
| Lrrc24 |
T |
C |
15: 76,600,200 (GRCm39) |
Q313R |
probably benign |
Het |
| Lsm1 |
A |
G |
8: 26,292,047 (GRCm39) |
E108G |
probably benign |
Het |
| Macf1 |
T |
C |
4: 123,325,901 (GRCm39) |
K5201E |
possibly damaging |
Het |
| Matcap2 |
A |
G |
9: 22,355,414 (GRCm39) |
E483G |
probably benign |
Het |
| Mettl25b |
C |
T |
3: 87,835,056 (GRCm39) |
V31I |
possibly damaging |
Het |
| Mki67 |
G |
T |
7: 135,298,245 (GRCm39) |
T2263K |
probably damaging |
Het |
| Mroh1 |
G |
A |
15: 76,330,756 (GRCm39) |
G1156S |
probably benign |
Het |
| Ncor1 |
A |
T |
11: 62,274,070 (GRCm39) |
M190K |
probably damaging |
Het |
| Nsmce3 |
A |
G |
7: 64,522,467 (GRCm39) |
V67A |
probably damaging |
Het |
| Nuggc |
T |
C |
14: 65,882,478 (GRCm39) |
V741A |
probably benign |
Het |
| Olfm3 |
G |
T |
3: 114,916,206 (GRCm39) |
L379F |
probably damaging |
Het |
| Or4x13 |
T |
C |
2: 90,231,277 (GRCm39) |
S91P |
probably benign |
Het |
| Or8g21 |
T |
A |
9: 38,905,889 (GRCm39) |
I281F |
probably benign |
Het |
| Pcdhb13 |
A |
G |
18: 37,577,853 (GRCm39) |
T744A |
probably damaging |
Het |
| Plek |
T |
C |
11: 16,933,220 (GRCm39) |
T298A |
probably benign |
Het |
| Pou5f2 |
A |
G |
13: 78,173,392 (GRCm39) |
I111M |
probably benign |
Het |
| Pou6f2 |
C |
T |
13: 18,299,991 (GRCm39) |
R556H |
probably damaging |
Het |
| Pramel58 |
T |
G |
5: 94,830,635 (GRCm39) |
N44K |
probably benign |
Het |
| Rcor1 |
G |
A |
12: 111,059,529 (GRCm39) |
A148T |
|
Het |
| Rnh1 |
A |
G |
7: 140,748,544 (GRCm39) |
V11A |
probably benign |
Het |
| Slc35f1 |
T |
C |
10: 52,984,244 (GRCm39) |
F335L |
possibly damaging |
Het |
| Srrm2 |
T |
C |
17: 24,027,330 (GRCm39) |
V22A |
unknown |
Het |
| St7 |
A |
T |
6: 17,934,220 (GRCm39) |
H534L |
probably damaging |
Het |
| Swi5 |
T |
A |
2: 32,170,463 (GRCm39) |
|
probably benign |
Het |
| Syf2 |
T |
A |
4: 134,658,586 (GRCm39) |
H40Q |
probably benign |
Het |
| Tgtp2 |
G |
A |
11: 48,949,721 (GRCm39) |
L284F |
probably benign |
Het |
| Tnn |
C |
T |
1: 159,946,053 (GRCm39) |
G922R |
probably damaging |
Het |
| Trbc1 |
A |
C |
6: 41,516,046 (GRCm39) |
|
probably benign |
Het |
| Trim33 |
A |
T |
3: 103,261,145 (GRCm39) |
T1115S |
probably benign |
Het |
| Ttc22 |
C |
A |
4: 106,496,115 (GRCm39) |
|
probably null |
Het |
| Ttn |
C |
T |
2: 76,638,374 (GRCm39) |
A13969T |
probably damaging |
Het |
| Tuba4a |
T |
C |
1: 75,193,945 (GRCm39) |
D74G |
probably benign |
Het |
| Ube3c |
T |
A |
5: 29,795,882 (GRCm39) |
D90E |
probably benign |
Het |
| Ubr7 |
T |
C |
12: 102,724,397 (GRCm39) |
V37A |
probably damaging |
Het |
| Vmn2r28 |
A |
C |
7: 5,487,059 (GRCm39) |
C535G |
probably damaging |
Het |
| Wdr36 |
A |
G |
18: 32,992,346 (GRCm39) |
T628A |
possibly damaging |
Het |
| Whrn |
C |
T |
4: 63,413,047 (GRCm39) |
V142M |
probably damaging |
Het |
| Wnk2 |
A |
T |
13: 49,203,958 (GRCm39) |
|
probably null |
Het |
| Xkr7 |
C |
T |
2: 152,896,883 (GRCm39) |
T579I |
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 |
|
|
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 |
|
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'- GACCTCTCAGATTCCCGAAATG -3'
(R):5'- GCAGCTCCAATCTTCTAGAAGTG -3'
Sequencing Primer
(F):5'- CTCAGATTCCCGAAATGAACTTTC -3'
(R):5'- GGTTTGGGGCATGAAACCC -3'
|
| Posted On |
2020-09-02 |
Incidental Mutation