Incidental Mutation 'R5893:Ehbp1l1'
ID |
457342 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Ehbp1l1
|
Ensembl Gene |
ENSMUSG00000024937 |
Gene Name |
EH domain binding protein 1-like 1 |
Synonyms |
G430002G23Rik |
MMRRC Submission |
044094-MU
|
Accession Numbers |
|
Essential gene? |
Essential
(E-score: 1.000)
|
Stock # |
R5893 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
19 |
Chromosomal Location |
5757404-5776345 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 5768459 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Glutamic Acid to Glycine
at position 948
(E948G)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000037656
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000049295]
[ENSMUST00000075606]
|
AlphaFold |
no structure available at present |
Predicted Effect |
probably benign
Transcript: ENSMUST00000049295
AA Change: E948G
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
SMART Domains |
Protein: ENSMUSP00000037656 Gene: ENSMUSG00000024937 AA Change: E948G
Domain | Start | End | E-Value | Type |
Pfam:NT-C2
|
12 |
164 |
3.2e-24 |
PFAM |
low complexity region
|
245 |
256 |
N/A |
INTRINSIC |
low complexity region
|
276 |
291 |
N/A |
INTRINSIC |
internal_repeat_1
|
442 |
821 |
1.71e-12 |
PROSPERO |
internal_repeat_1
|
833 |
1197 |
1.71e-12 |
PROSPERO |
CH
|
1212 |
1310 |
3.55e-16 |
SMART |
low complexity region
|
1316 |
1331 |
N/A |
INTRINSIC |
low complexity region
|
1426 |
1449 |
N/A |
INTRINSIC |
low complexity region
|
1471 |
1484 |
N/A |
INTRINSIC |
low complexity region
|
1493 |
1547 |
N/A |
INTRINSIC |
DUF3585
|
1552 |
1696 |
6.7e-59 |
SMART |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000075606
|
SMART Domains |
Protein: ENSMUSP00000126740 Gene: ENSMUSG00000024937
Domain | Start | End | E-Value | Type |
Pfam:NT-C2
|
12 |
164 |
3.9e-25 |
PFAM |
CH
|
268 |
366 |
3.55e-16 |
SMART |
low complexity region
|
372 |
387 |
N/A |
INTRINSIC |
low complexity region
|
482 |
505 |
N/A |
INTRINSIC |
low complexity region
|
527 |
540 |
N/A |
INTRINSIC |
low complexity region
|
549 |
603 |
N/A |
INTRINSIC |
DUF3585
|
608 |
752 |
6.7e-59 |
SMART |
|
Meta Mutation Damage Score |
0.0906 |
Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.6%
- 10x: 98.1%
- 20x: 94.4%
|
Validation Efficiency |
95% (73/77) |
MGI Phenotype |
PHENOTYPE: Homozygous knockout leads to a reduction in the length and density of small intestinal microvilli, severe anemia, and neonatal lethality. [provided by MGI curators]
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 68 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
AAdacl4fm3 |
C |
T |
4: 144,429,766 (GRCm39) |
V408I |
probably benign |
Het |
Ablim1 |
T |
A |
19: 57,204,285 (GRCm39) |
R35S |
probably benign |
Het |
Acacb |
A |
T |
5: 114,367,912 (GRCm39) |
I1637F |
probably benign |
Het |
Adamts18 |
A |
T |
8: 114,499,709 (GRCm39) |
C402S |
probably damaging |
Het |
Adra2b |
T |
A |
2: 127,206,402 (GRCm39) |
D306E |
probably benign |
Het |
Ammecr1l |
C |
T |
18: 31,911,973 (GRCm39) |
T263I |
probably damaging |
Het |
Antxr1 |
T |
C |
6: 87,114,241 (GRCm39) |
I509V |
probably benign |
Het |
Bahcc1 |
A |
G |
11: 120,176,256 (GRCm39) |
E1967G |
probably damaging |
Het |
Brap |
T |
A |
5: 121,817,405 (GRCm39) |
Y337* |
probably null |
Het |
Brca2 |
T |
C |
5: 150,492,603 (GRCm39) |
V3206A |
probably benign |
Het |
Cacna1e |
A |
T |
1: 154,313,069 (GRCm39) |
F1486I |
probably damaging |
Het |
Cbx4 |
A |
G |
11: 118,973,016 (GRCm39) |
Y120H |
probably damaging |
Het |
Ccar2 |
T |
A |
14: 70,388,800 (GRCm39) |
Q137L |
probably benign |
Het |
Ceacam12 |
A |
G |
7: 17,803,299 (GRCm39) |
D235G |
probably damaging |
Het |
Celsr1 |
A |
G |
15: 85,788,215 (GRCm39) |
V2679A |
probably benign |
Het |
Champ1 |
C |
T |
8: 13,928,777 (GRCm39) |
P312S |
probably benign |
Het |
Chst5 |
A |
G |
8: 112,616,828 (GRCm39) |
L264S |
probably damaging |
Het |
Cip2a |
A |
G |
16: 48,817,863 (GRCm39) |
S78G |
probably benign |
Het |
Colec10 |
T |
A |
15: 54,274,185 (GRCm39) |
F4L |
probably benign |
Het |
Cyp2a4 |
G |
A |
7: 26,008,353 (GRCm39) |
G165D |
probably damaging |
Het |
Cyp2c29 |
G |
C |
19: 39,318,833 (GRCm39) |
A438P |
possibly damaging |
Het |
Dlat |
A |
G |
9: 50,555,439 (GRCm39) |
|
probably benign |
Het |
Dmxl2 |
A |
G |
9: 54,294,704 (GRCm39) |
V2457A |
possibly damaging |
Het |
Dnah7a |
A |
G |
1: 53,496,944 (GRCm39) |
M3104T |
possibly damaging |
Het |
Dock8 |
C |
T |
19: 25,099,811 (GRCm39) |
H645Y |
probably damaging |
Het |
Eps8l2 |
C |
T |
7: 140,937,537 (GRCm39) |
R384C |
probably damaging |
Het |
Fam174a |
A |
T |
1: 95,252,884 (GRCm39) |
N162I |
probably damaging |
Het |
Fbp2 |
T |
A |
13: 62,984,916 (GRCm39) |
N335I |
probably benign |
Het |
Foxred2 |
C |
A |
15: 77,831,344 (GRCm39) |
G490C |
probably damaging |
Het |
Fyttd1 |
T |
G |
16: 32,719,283 (GRCm39) |
D200E |
probably damaging |
Het |
Gdf15 |
A |
T |
8: 71,082,473 (GRCm39) |
V211E |
possibly damaging |
Het |
Gm6214 |
A |
G |
3: 140,545,107 (GRCm39) |
|
noncoding transcript |
Het |
Havcr2 |
A |
G |
11: 46,347,143 (GRCm39) |
Y40C |
probably damaging |
Het |
Htra1 |
T |
G |
7: 130,563,321 (GRCm39) |
V184G |
probably damaging |
Het |
Hydin |
A |
T |
8: 111,217,308 (GRCm39) |
I1399F |
probably benign |
Het |
Igtp |
T |
C |
11: 58,097,474 (GRCm39) |
L215P |
probably damaging |
Het |
Kctd1 |
T |
C |
18: 15,102,745 (GRCm39) |
E812G |
possibly damaging |
Het |
Lap3 |
T |
C |
5: 45,668,621 (GRCm39) |
|
probably benign |
Het |
Lgalsl2 |
A |
T |
7: 5,362,623 (GRCm39) |
T85S |
probably benign |
Het |
Lrp1b |
C |
A |
2: 40,491,599 (GRCm39) |
A223S |
probably damaging |
Het |
Mtnr1b |
A |
T |
9: 15,774,540 (GRCm39) |
V173E |
probably damaging |
Het |
Nat10 |
A |
C |
2: 103,552,184 (GRCm39) |
|
probably benign |
Het |
Ndfip2 |
T |
A |
14: 105,532,291 (GRCm39) |
V229E |
probably damaging |
Het |
Nefh |
G |
A |
11: 4,891,323 (GRCm39) |
T432M |
probably damaging |
Het |
Nfe2l3 |
A |
G |
6: 51,434,832 (GRCm39) |
Y464C |
probably damaging |
Het |
Nrip1 |
C |
A |
16: 76,090,841 (GRCm39) |
A239S |
probably damaging |
Het |
Olfml2b |
A |
G |
1: 170,490,042 (GRCm39) |
S221G |
probably benign |
Het |
Orc4 |
G |
T |
2: 48,795,559 (GRCm39) |
S389* |
probably null |
Het |
P4hb |
A |
G |
11: 120,462,476 (GRCm39) |
S77P |
probably damaging |
Het |
Pcyt2 |
T |
C |
11: 120,508,623 (GRCm39) |
|
probably null |
Het |
Plagl1 |
T |
C |
10: 13,003,938 (GRCm39) |
|
probably benign |
Het |
Poglut1 |
C |
T |
16: 38,349,957 (GRCm39) |
R272Q |
probably damaging |
Het |
Pramel26 |
T |
A |
4: 143,537,038 (GRCm39) |
Y431F |
probably damaging |
Het |
Rdh5 |
T |
C |
10: 128,750,090 (GRCm39) |
|
probably null |
Het |
Rogdi |
A |
T |
16: 4,831,258 (GRCm39) |
L3* |
probably null |
Het |
Skap1 |
T |
C |
11: 96,472,224 (GRCm39) |
*166Q |
probably null |
Het |
Slc38a4 |
A |
G |
15: 96,897,432 (GRCm39) |
I461T |
probably benign |
Het |
Snx31 |
A |
C |
15: 36,523,601 (GRCm39) |
I360M |
probably damaging |
Het |
Spata22 |
A |
T |
11: 73,227,073 (GRCm39) |
K96* |
probably null |
Het |
Strn3 |
A |
T |
12: 51,690,006 (GRCm39) |
|
probably null |
Het |
Trip12 |
A |
C |
1: 84,736,884 (GRCm39) |
|
probably benign |
Het |
Uggt1 |
A |
T |
1: 36,266,709 (GRCm39) |
|
probably null |
Het |
Upk3a |
A |
C |
15: 84,903,538 (GRCm39) |
D79A |
probably damaging |
Het |
Uts2r |
A |
T |
11: 121,052,105 (GRCm39) |
Y323F |
probably benign |
Het |
Vmn2r1 |
A |
T |
3: 63,993,974 (GRCm39) |
N107Y |
probably damaging |
Het |
Vps13c |
A |
T |
9: 67,810,121 (GRCm39) |
|
probably null |
Het |
Wnt7b |
A |
G |
15: 85,465,575 (GRCm39) |
|
probably benign |
Het |
Zfp410 |
T |
A |
12: 84,384,385 (GRCm39) |
|
probably null |
Het |
|
Other mutations in Ehbp1l1 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL00933:Ehbp1l1
|
APN |
19 |
5,767,961 (GRCm39) |
missense |
probably benign |
0.33 |
IGL01061:Ehbp1l1
|
APN |
19 |
5,767,916 (GRCm39) |
missense |
probably benign |
|
IGL01372:Ehbp1l1
|
APN |
19 |
5,765,817 (GRCm39) |
splice site |
probably benign |
|
IGL01790:Ehbp1l1
|
APN |
19 |
5,773,012 (GRCm39) |
missense |
probably damaging |
0.99 |
IGL01936:Ehbp1l1
|
APN |
19 |
5,768,277 (GRCm39) |
nonsense |
probably null |
|
IGL02194:Ehbp1l1
|
APN |
19 |
5,768,885 (GRCm39) |
missense |
probably benign |
|
IGL02347:Ehbp1l1
|
APN |
19 |
5,769,600 (GRCm39) |
missense |
possibly damaging |
0.72 |
IGL02372:Ehbp1l1
|
APN |
19 |
5,760,862 (GRCm39) |
missense |
possibly damaging |
0.53 |
IGL02681:Ehbp1l1
|
APN |
19 |
5,770,853 (GRCm39) |
missense |
probably damaging |
0.98 |
IGL02824:Ehbp1l1
|
APN |
19 |
5,769,326 (GRCm39) |
missense |
probably benign |
|
IGL03070:Ehbp1l1
|
APN |
19 |
5,765,981 (GRCm39) |
missense |
probably benign |
0.33 |
IGL03146:Ehbp1l1
|
APN |
19 |
5,770,061 (GRCm39) |
missense |
probably benign |
0.00 |
PIT4802001:Ehbp1l1
|
UTSW |
19 |
5,769,603 (GRCm39) |
missense |
possibly damaging |
0.93 |
R0309:Ehbp1l1
|
UTSW |
19 |
5,770,598 (GRCm39) |
missense |
possibly damaging |
0.72 |
R0787:Ehbp1l1
|
UTSW |
19 |
5,772,696 (GRCm39) |
missense |
possibly damaging |
0.95 |
R1156:Ehbp1l1
|
UTSW |
19 |
5,758,364 (GRCm39) |
unclassified |
probably benign |
|
R1337:Ehbp1l1
|
UTSW |
19 |
5,768,258 (GRCm39) |
missense |
probably benign |
0.00 |
R1474:Ehbp1l1
|
UTSW |
19 |
5,769,112 (GRCm39) |
missense |
possibly damaging |
0.86 |
R1501:Ehbp1l1
|
UTSW |
19 |
5,766,452 (GRCm39) |
missense |
probably damaging |
0.98 |
R1582:Ehbp1l1
|
UTSW |
19 |
5,771,995 (GRCm39) |
missense |
possibly damaging |
0.83 |
R1766:Ehbp1l1
|
UTSW |
19 |
5,766,434 (GRCm39) |
missense |
probably damaging |
0.98 |
R1838:Ehbp1l1
|
UTSW |
19 |
5,767,719 (GRCm39) |
missense |
probably benign |
0.39 |
R1842:Ehbp1l1
|
UTSW |
19 |
5,775,958 (GRCm39) |
missense |
probably damaging |
0.99 |
R1863:Ehbp1l1
|
UTSW |
19 |
5,767,882 (GRCm39) |
missense |
probably benign |
0.01 |
R1955:Ehbp1l1
|
UTSW |
19 |
5,760,697 (GRCm39) |
missense |
possibly damaging |
0.51 |
R2010:Ehbp1l1
|
UTSW |
19 |
5,769,311 (GRCm39) |
missense |
probably benign |
|
R2098:Ehbp1l1
|
UTSW |
19 |
5,758,686 (GRCm39) |
missense |
possibly damaging |
0.93 |
R2099:Ehbp1l1
|
UTSW |
19 |
5,768,429 (GRCm39) |
missense |
possibly damaging |
0.72 |
R2852:Ehbp1l1
|
UTSW |
19 |
5,766,515 (GRCm39) |
missense |
probably damaging |
0.99 |
R3113:Ehbp1l1
|
UTSW |
19 |
5,769,008 (GRCm39) |
missense |
probably benign |
0.38 |
R3799:Ehbp1l1
|
UTSW |
19 |
5,769,143 (GRCm39) |
missense |
probably benign |
0.33 |
R3891:Ehbp1l1
|
UTSW |
19 |
5,768,340 (GRCm39) |
missense |
possibly damaging |
0.73 |
R3964:Ehbp1l1
|
UTSW |
19 |
5,760,601 (GRCm39) |
critical splice donor site |
probably null |
|
R3966:Ehbp1l1
|
UTSW |
19 |
5,760,601 (GRCm39) |
critical splice donor site |
probably null |
|
R4335:Ehbp1l1
|
UTSW |
19 |
5,758,797 (GRCm39) |
missense |
probably damaging |
0.98 |
R4434:Ehbp1l1
|
UTSW |
19 |
5,766,276 (GRCm39) |
missense |
possibly damaging |
0.93 |
R4457:Ehbp1l1
|
UTSW |
19 |
5,766,321 (GRCm39) |
missense |
possibly damaging |
0.83 |
R4597:Ehbp1l1
|
UTSW |
19 |
5,767,955 (GRCm39) |
missense |
possibly damaging |
0.72 |
R4726:Ehbp1l1
|
UTSW |
19 |
5,769,204 (GRCm39) |
missense |
possibly damaging |
0.70 |
R4761:Ehbp1l1
|
UTSW |
19 |
5,769,875 (GRCm39) |
missense |
possibly damaging |
0.93 |
R4771:Ehbp1l1
|
UTSW |
19 |
5,775,996 (GRCm39) |
missense |
probably damaging |
1.00 |
R5402:Ehbp1l1
|
UTSW |
19 |
5,766,348 (GRCm39) |
missense |
possibly damaging |
0.91 |
R5436:Ehbp1l1
|
UTSW |
19 |
5,766,276 (GRCm39) |
missense |
possibly damaging |
0.93 |
R5602:Ehbp1l1
|
UTSW |
19 |
5,758,698 (GRCm39) |
missense |
possibly damaging |
0.85 |
R6329:Ehbp1l1
|
UTSW |
19 |
5,768,795 (GRCm39) |
missense |
possibly damaging |
0.53 |
R6416:Ehbp1l1
|
UTSW |
19 |
5,768,785 (GRCm39) |
missense |
probably benign |
0.01 |
R7106:Ehbp1l1
|
UTSW |
19 |
5,768,765 (GRCm39) |
missense |
probably benign |
0.33 |
R7262:Ehbp1l1
|
UTSW |
19 |
5,768,474 (GRCm39) |
nonsense |
probably null |
|
R7304:Ehbp1l1
|
UTSW |
19 |
5,766,410 (GRCm39) |
missense |
probably damaging |
1.00 |
R7317:Ehbp1l1
|
UTSW |
19 |
5,770,730 (GRCm39) |
missense |
probably benign |
0.44 |
R7404:Ehbp1l1
|
UTSW |
19 |
5,770,872 (GRCm39) |
missense |
possibly damaging |
0.72 |
R7447:Ehbp1l1
|
UTSW |
19 |
5,769,456 (GRCm39) |
missense |
possibly damaging |
0.53 |
R7862:Ehbp1l1
|
UTSW |
19 |
5,770,851 (GRCm39) |
missense |
probably benign |
|
R7881:Ehbp1l1
|
UTSW |
19 |
5,769,426 (GRCm39) |
missense |
probably benign |
|
R7910:Ehbp1l1
|
UTSW |
19 |
5,766,452 (GRCm39) |
missense |
probably benign |
0.28 |
R8239:Ehbp1l1
|
UTSW |
19 |
5,770,089 (GRCm39) |
missense |
possibly damaging |
0.53 |
R8309:Ehbp1l1
|
UTSW |
19 |
5,767,103 (GRCm39) |
missense |
probably damaging |
1.00 |
R8324:Ehbp1l1
|
UTSW |
19 |
5,770,026 (GRCm39) |
missense |
possibly damaging |
0.86 |
R8724:Ehbp1l1
|
UTSW |
19 |
5,765,886 (GRCm39) |
missense |
possibly damaging |
0.73 |
R9260:Ehbp1l1
|
UTSW |
19 |
5,769,278 (GRCm39) |
missense |
probably benign |
0.07 |
R9453:Ehbp1l1
|
UTSW |
19 |
5,758,371 (GRCm39) |
missense |
unknown |
|
RF053:Ehbp1l1
|
UTSW |
19 |
5,766,030 (GRCm39) |
small deletion |
probably benign |
|
Z1088:Ehbp1l1
|
UTSW |
19 |
5,766,315 (GRCm39) |
missense |
possibly damaging |
0.77 |
Z1176:Ehbp1l1
|
UTSW |
19 |
5,767,917 (GRCm39) |
missense |
probably benign |
|
Z1177:Ehbp1l1
|
UTSW |
19 |
5,769,462 (GRCm39) |
missense |
probably benign |
0.02 |
Z1177:Ehbp1l1
|
UTSW |
19 |
5,769,130 (GRCm39) |
missense |
probably benign |
0.01 |
Z1177:Ehbp1l1
|
UTSW |
19 |
5,769,129 (GRCm39) |
missense |
probably benign |
0.07 |
Z1177:Ehbp1l1
|
UTSW |
19 |
5,768,790 (GRCm39) |
missense |
probably damaging |
0.99 |
|
Predicted Primers |
PCR Primer
(F):5'- AGACCCCAGGATCCACTAGTTC -3'
(R):5'- AGAGTAGTGGCCAACCTACC -3'
Sequencing Primer
(F):5'- TCAGCCTCTCCTCGACGAAG -3'
(R):5'- CTACCAGAATCTGAGCTCTTAGGG -3'
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Posted On |
2017-02-15 |