Incidental Mutation 'R2010:Ehbp1l1'
| ID |
219580 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Ehbp1l1
|
| Ensembl Gene |
ENSMUSG00000024937 |
| Gene Name |
EH domain binding protein 1-like 1 |
| Synonyms |
G430002G23Rik |
| MMRRC Submission |
040019-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R2010 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
19 |
| Chromosomal Location |
5757404-5776345 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 5769311 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Threonine
at position 664
(I664T)
|
| 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: I664T
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000037656
Gene: ENSMUSG00000024937
AA Change: I664T
| 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 |
|
| Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.4%
- 10x: 96.5%
- 20x: 92.6%
|
| Validation Efficiency |
|
| 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: 78 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1810062G17Rik |
G |
A |
3: 36,535,955 (GRCm39) |
G74S |
unknown |
Het |
| Aimp1 |
A |
T |
3: 132,373,253 (GRCm39) |
L229Q |
probably benign |
Het |
| Arhgef6 |
T |
C |
X: 56,344,865 (GRCm39) |
T52A |
possibly damaging |
Het |
| Aste1 |
C |
A |
9: 105,280,701 (GRCm39) |
H25Q |
probably damaging |
Het |
| Atp13a1 |
G |
A |
8: 70,244,010 (GRCm39) |
G36R |
possibly damaging |
Het |
| Bahcc1 |
T |
C |
11: 120,163,604 (GRCm39) |
V634A |
probably damaging |
Het |
| Bltp1 |
T |
G |
3: 36,982,700 (GRCm39) |
N788K |
probably benign |
Het |
| C1s1 |
A |
T |
6: 124,514,353 (GRCm39) |
Y168N |
probably damaging |
Het |
| Camsap2 |
T |
C |
1: 136,202,606 (GRCm39) |
S612G |
probably damaging |
Het |
| Cdh23 |
C |
A |
10: 60,150,006 (GRCm39) |
R2611L |
probably damaging |
Het |
| Cfap20dc |
A |
T |
14: 8,511,021 (GRCm38) |
F464L |
probably damaging |
Het |
| Cilp2 |
A |
G |
8: 70,334,344 (GRCm39) |
Y885H |
probably damaging |
Het |
| Dhrs3 |
C |
T |
4: 144,653,758 (GRCm39) |
T227I |
possibly damaging |
Het |
| Dnah2 |
A |
T |
11: 69,349,184 (GRCm39) |
|
probably null |
Het |
| Dnah3 |
T |
G |
7: 119,694,400 (GRCm39) |
M1L |
probably benign |
Het |
| Eif4e |
C |
T |
3: 138,261,219 (GRCm39) |
T171I |
probably benign |
Het |
| Elfn1 |
C |
T |
5: 139,959,071 (GRCm39) |
R692W |
probably damaging |
Het |
| Eps8l3 |
T |
A |
3: 107,786,688 (GRCm39) |
M1K |
probably null |
Het |
| Evi5 |
C |
A |
5: 107,961,411 (GRCm39) |
|
probably null |
Het |
| Fancd2 |
A |
T |
6: 113,570,252 (GRCm39) |
D1401V |
probably damaging |
Het |
| Fat2 |
G |
A |
11: 55,144,653 (GRCm39) |
R4074C |
probably damaging |
Het |
| Fkbp4 |
A |
T |
6: 128,412,765 (GRCm39) |
V55E |
probably benign |
Het |
| Fnip1 |
A |
G |
11: 54,373,329 (GRCm39) |
D180G |
probably damaging |
Het |
| Galc |
A |
G |
12: 98,220,489 (GRCm39) |
F126S |
possibly damaging |
Het |
| Gdf7 |
C |
T |
12: 8,351,729 (GRCm39) |
V69M |
unknown |
Het |
| Glis2 |
A |
G |
16: 4,426,575 (GRCm39) |
E22G |
probably damaging |
Het |
| H2bc3 |
G |
A |
13: 23,931,111 (GRCm39) |
V112M |
possibly damaging |
Het |
| Hps4 |
T |
A |
5: 112,517,342 (GRCm39) |
V243E |
probably damaging |
Het |
| Ighe |
T |
A |
12: 113,235,108 (GRCm39) |
I351F |
unknown |
Het |
| Irak4 |
A |
T |
15: 94,449,687 (GRCm39) |
R55S |
probably damaging |
Het |
| Itpr2 |
G |
A |
6: 146,129,022 (GRCm39) |
|
probably null |
Het |
| Katnip |
A |
G |
7: 125,472,128 (GRCm39) |
I1544M |
possibly damaging |
Het |
| Kirrel3 |
T |
C |
9: 34,850,494 (GRCm39) |
Y41H |
probably damaging |
Het |
| Krr1 |
A |
G |
10: 111,811,474 (GRCm39) |
E56G |
possibly damaging |
Het |
| Lgi1 |
G |
A |
19: 38,289,683 (GRCm39) |
V250I |
probably damaging |
Het |
| Lipf |
A |
G |
19: 33,950,946 (GRCm39) |
N306D |
probably benign |
Het |
| Lman2l |
C |
T |
1: 36,484,262 (GRCm39) |
W18* |
probably null |
Het |
| Lztfl1 |
T |
A |
9: 123,531,251 (GRCm39) |
N239I |
possibly damaging |
Het |
| Mief1 |
T |
C |
15: 80,132,126 (GRCm39) |
S66P |
possibly damaging |
Het |
| Mmp8 |
C |
A |
9: 7,567,535 (GRCm39) |
S465* |
probably null |
Het |
| Muc2 |
A |
T |
7: 141,287,444 (GRCm39) |
T208S |
probably damaging |
Het |
| Myh8 |
A |
T |
11: 67,187,990 (GRCm39) |
K921* |
probably null |
Het |
| Myh9 |
T |
C |
15: 77,656,147 (GRCm39) |
E1121G |
probably benign |
Het |
| Nbn |
T |
C |
4: 15,969,393 (GRCm39) |
S213P |
probably damaging |
Het |
| Nol10 |
A |
G |
12: 17,466,102 (GRCm39) |
E499G |
probably benign |
Het |
| Nxn |
T |
C |
11: 76,289,627 (GRCm39) |
E87G |
probably damaging |
Het |
| Or14c40 |
A |
G |
7: 86,313,811 (GRCm39) |
T314A |
probably benign |
Het |
| Or51f2 |
T |
A |
7: 102,526,892 (GRCm39) |
C188* |
probably null |
Het |
| Or8g23 |
T |
C |
9: 38,971,395 (GRCm39) |
H189R |
probably benign |
Het |
| Pds5b |
CATTTATTTATTTATTTATTTATTTATTTATTTATTTAT |
CATTTATTTATTTATTTATTTATTTATTTATTTATTTATTTAT |
5: 150,698,819 (GRCm39) |
|
probably benign |
Het |
| Pigk |
A |
G |
3: 152,472,151 (GRCm39) |
I354M |
probably damaging |
Het |
| Pigl |
T |
A |
11: 62,349,508 (GRCm39) |
C75S |
probably damaging |
Het |
| Pm20d1 |
T |
A |
1: 131,739,852 (GRCm39) |
I400N |
probably benign |
Het |
| Prkg2 |
T |
A |
5: 99,172,664 (GRCm39) |
H17L |
probably benign |
Het |
| Psmd1 |
T |
A |
1: 86,003,719 (GRCm39) |
L168Q |
probably damaging |
Het |
| Rab3gap2 |
A |
T |
1: 185,010,478 (GRCm39) |
H1136L |
possibly damaging |
Het |
| Rb1 |
T |
C |
14: 73,532,433 (GRCm39) |
T134A |
probably benign |
Het |
| Rims1 |
T |
C |
1: 22,367,220 (GRCm39) |
E1024G |
probably damaging |
Het |
| Rrp12 |
A |
G |
19: 41,861,376 (GRCm39) |
V977A |
probably benign |
Het |
| Rusc2 |
C |
T |
4: 43,415,212 (GRCm39) |
P173S |
probably benign |
Het |
| Selenov |
A |
T |
7: 27,987,447 (GRCm39) |
D310E |
probably damaging |
Het |
| Serpina3f |
T |
A |
12: 104,183,582 (GRCm39) |
L148Q |
probably damaging |
Het |
| Slc10a1 |
C |
T |
12: 81,007,221 (GRCm39) |
V187I |
probably benign |
Het |
| Spsb2 |
A |
G |
6: 124,787,339 (GRCm39) |
K258E |
probably damaging |
Het |
| Tas2r105 |
A |
C |
6: 131,664,365 (GRCm39) |
V21G |
probably benign |
Het |
| Tmem229b-ps |
T |
A |
10: 53,351,295 (GRCm39) |
|
noncoding transcript |
Het |
| Tnrc6a |
C |
G |
7: 122,770,269 (GRCm39) |
H686Q |
probably benign |
Het |
| Trpc2 |
T |
A |
7: 101,743,780 (GRCm39) |
F715L |
probably benign |
Het |
| Ube2t |
T |
A |
1: 134,897,036 (GRCm39) |
I56N |
probably benign |
Het |
| Ubr4 |
T |
C |
4: 139,207,963 (GRCm39) |
Y4915H |
possibly damaging |
Het |
| Usp32 |
T |
A |
11: 84,930,830 (GRCm39) |
E533D |
probably damaging |
Het |
| Vipr2 |
T |
G |
12: 116,086,430 (GRCm39) |
|
probably null |
Het |
| Vmn1r15 |
A |
G |
6: 57,235,269 (GRCm39) |
T46A |
probably benign |
Het |
| Vmn1r203 |
T |
G |
13: 22,708,617 (GRCm39) |
S133A |
possibly damaging |
Het |
| Vmn1r215 |
T |
G |
13: 23,260,378 (GRCm39) |
N139K |
probably damaging |
Het |
| Vmn1r232 |
C |
T |
17: 21,133,601 (GRCm39) |
R333H |
probably benign |
Het |
| Wdr20rt |
C |
A |
12: 65,273,988 (GRCm39) |
H311N |
possibly damaging |
Het |
| Zranb1 |
T |
C |
7: 132,568,425 (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 |
|
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 |
|
R5893:Ehbp1l1
|
UTSW |
19 |
5,768,459 (GRCm39) |
missense |
probably benign |
|
|
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'- TGTGGATCCCCAATGTCTCAG -3'
(R):5'- ATATTGGAGGCCCAGGAGTC -3'
Sequencing Primer
(F):5'- GGATCCCCAATGTCTCAGTTCCTG -3'
(R):5'- CCCAGGAGTCAGAAGCAGC -3'
|
| Posted On |
2014-08-25 |
Incidental Mutation