Incidental Mutation 'R8724:Ehbp1l1'
| ID |
662318 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Ehbp1l1
|
| Ensembl Gene |
ENSMUSG00000024937 |
| Gene Name |
EH domain binding protein 1-like 1 |
| Synonyms |
G430002G23Rik |
| MMRRC Submission |
068573-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R8724 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
19 |
| Chromosomal Location |
5757404-5776345 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 5765886 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Proline
at position 1486
(S1486P)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000037656
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000049295]
[ENSMUST00000075606]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000049295
AA Change: S1486P
PolyPhen 2
Score 0.734 (Sensitivity: 0.85; Specificity: 0.92)
|
| SMART Domains |
Protein: ENSMUSP00000037656
Gene: ENSMUSG00000024937
AA Change: S1486P
| 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 |
possibly damaging
Transcript: ENSMUST00000075606
AA Change: S542P
PolyPhen 2
Score 0.921 (Sensitivity: 0.81; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000126740
Gene: ENSMUSG00000024937
AA Change: S542P
| 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: 100.0%
- 3x: 100.0%
- 10x: 99.8%
- 20x: 99.5%
|
| Validation Efficiency |
99% (69/70) |
| 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: 70 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adamtsl4 |
C |
T |
3: 95,584,426 (GRCm39) |
R990Q |
possibly damaging |
Het |
| Ampd2 |
C |
A |
3: 107,987,432 (GRCm39) |
V134L |
probably benign |
Het |
| Ank2 |
A |
T |
3: 126,737,405 (GRCm39) |
D2826E |
unknown |
Het |
| Asb3 |
A |
T |
11: 31,051,120 (GRCm39) |
I486F |
probably damaging |
Het |
| Atg4b |
A |
T |
1: 93,696,023 (GRCm39) |
Y54F |
probably damaging |
Het |
| Atp1a2 |
T |
A |
1: 172,106,945 (GRCm39) |
I792F |
probably benign |
Het |
| Bltp1 |
G |
A |
3: 36,945,042 (GRCm39) |
V334I |
probably damaging |
Het |
| Ccser1 |
A |
C |
6: 61,288,199 (GRCm39) |
S121R |
probably damaging |
Het |
| Cdc40 |
C |
T |
10: 40,717,480 (GRCm39) |
D404N |
probably damaging |
Het |
| Cep120 |
A |
T |
18: 53,856,199 (GRCm39) |
V406E |
possibly damaging |
Het |
| Ces2g |
C |
A |
8: 105,692,955 (GRCm39) |
A331D |
probably benign |
Het |
| Csnk1g2 |
G |
A |
10: 80,474,760 (GRCm39) |
R299H |
probably damaging |
Het |
| Dlat |
G |
T |
9: 50,560,967 (GRCm39) |
A360E |
probably damaging |
Het |
| Dock10 |
T |
G |
1: 80,570,344 (GRCm39) |
I371L |
probably benign |
Het |
| Dpp9 |
T |
A |
17: 56,512,867 (GRCm39) |
T114S |
probably benign |
Het |
| Dusp13b |
T |
C |
14: 21,796,475 (GRCm39) |
R160G |
probably benign |
Het |
| Dync2i2 |
T |
C |
2: 29,923,961 (GRCm39) |
D188G |
probably benign |
Het |
| Edem3 |
A |
G |
1: 151,651,624 (GRCm39) |
K122R |
possibly damaging |
Het |
| Elf3 |
A |
G |
1: 135,182,098 (GRCm39) |
I361T |
probably damaging |
Het |
| Epha3 |
C |
T |
16: 63,403,818 (GRCm39) |
C761Y |
probably damaging |
Het |
| Ephb2 |
A |
G |
4: 136,498,368 (GRCm39) |
I237T |
probably damaging |
Het |
| Eya1 |
A |
T |
1: 14,279,206 (GRCm39) |
D346E |
probably benign |
Het |
| Fat2 |
T |
C |
11: 55,173,786 (GRCm39) |
Y2309C |
probably damaging |
Het |
| Fbn1 |
T |
C |
2: 125,202,066 (GRCm39) |
D1269G |
probably damaging |
Het |
| Fmn2 |
CCCTCCTCTCCCTGGAATGGGAATACCTCCCCCACCTCCTCTCCCTGGAATGGGAATACCTCCCCCACCTCCTCTCCCTGGAATGGGAATATCTCCCCTACCTCCTCTCCCTGGAATGGGAATACCTCC |
CCCTCCTCTCCCTGGAATGGGAATACCTCCCCCACCTCCTCTCCCTGGAATGGGAATATCTCCCCTACCTCCTCTCCCTGGAATGGGAATACCTCC |
1: 174,436,769 (GRCm39) |
|
probably benign |
Het |
| Fnbp4 |
T |
C |
2: 90,577,097 (GRCm39) |
V143A |
probably damaging |
Het |
| Foxo6 |
A |
G |
4: 120,144,109 (GRCm39) |
I114T |
probably damaging |
Het |
| Gm6741 |
T |
C |
17: 91,544,564 (GRCm39) |
I109T |
probably benign |
Het |
| Gtf2h5 |
C |
CA |
17: 6,134,833 (GRCm39) |
|
probably null |
Het |
| Hsf1 |
C |
T |
15: 76,381,999 (GRCm39) |
S199L |
probably damaging |
Het |
| Htr3a |
T |
C |
9: 48,815,981 (GRCm39) |
N152S |
probably damaging |
Het |
| Ikzf2 |
T |
A |
1: 69,617,100 (GRCm39) |
E82D |
probably benign |
Het |
| Kank2 |
T |
G |
9: 21,705,917 (GRCm39) |
K367T |
possibly damaging |
Het |
| Kif20b |
T |
A |
19: 34,916,146 (GRCm39) |
|
probably benign |
Het |
| Ktn1 |
G |
A |
14: 47,931,335 (GRCm39) |
V643I |
probably benign |
Het |
| Lipk |
G |
A |
19: 33,996,120 (GRCm39) |
V11M |
probably benign |
Het |
| Med4 |
T |
A |
14: 73,751,249 (GRCm39) |
L66* |
probably null |
Het |
| Mtus1 |
T |
C |
8: 41,451,500 (GRCm39) |
K379E |
probably damaging |
Het |
| Nat1 |
T |
A |
8: 67,944,443 (GRCm39) |
I276N |
probably damaging |
Het |
| Nav2 |
G |
A |
7: 49,141,184 (GRCm39) |
V910M |
possibly damaging |
Het |
| Or10ag53 |
T |
A |
2: 87,082,704 (GRCm39) |
I141N |
probably damaging |
Het |
| Or4a80 |
A |
T |
2: 89,582,373 (GRCm39) |
D266E |
probably damaging |
Het |
| Pcdh9 |
A |
G |
14: 94,124,583 (GRCm39) |
V529A |
probably benign |
Het |
| Pcdhga7 |
C |
T |
18: 37,848,146 (GRCm39) |
T51I |
probably benign |
Het |
| Pdcd1 |
A |
G |
1: 93,968,956 (GRCm39) |
Y121H |
probably damaging |
Het |
| Pdia6 |
A |
G |
12: 17,333,982 (GRCm39) |
D438G |
unknown |
Het |
| Pgm1 |
A |
G |
4: 99,786,964 (GRCm39) |
T68A |
probably benign |
Het |
| Pik3c2g |
G |
A |
6: 139,913,619 (GRCm39) |
V1006I |
unknown |
Het |
| Plk4 |
C |
T |
3: 40,768,022 (GRCm39) |
T855I |
probably damaging |
Het |
| Pnldc1 |
T |
A |
17: 13,111,703 (GRCm39) |
N335Y |
probably damaging |
Het |
| Prkcq |
C |
T |
2: 11,304,784 (GRCm39) |
P658S |
probably benign |
Het |
| Rbl2 |
T |
C |
8: 91,841,837 (GRCm39) |
I1011T |
possibly damaging |
Het |
| Rev1 |
A |
C |
1: 38,127,150 (GRCm39) |
V370G |
probably damaging |
Het |
| Rtn4 |
A |
G |
11: 29,643,316 (GRCm39) |
E43G |
unknown |
Het |
| Rtp2 |
C |
T |
16: 23,746,064 (GRCm39) |
G189D |
possibly damaging |
Het |
| Ryr1 |
G |
A |
7: 28,816,802 (GRCm39) |
A78V |
probably benign |
Het |
| Sel1l3 |
A |
C |
5: 53,293,165 (GRCm39) |
Y850* |
probably null |
Het |
| Senp3 |
T |
C |
11: 69,564,419 (GRCm39) |
Q547R |
probably damaging |
Het |
| Siglecf |
T |
C |
7: 43,004,976 (GRCm39) |
L402P |
probably damaging |
Het |
| Slc24a1 |
T |
C |
9: 64,855,453 (GRCm39) |
I485V |
probably benign |
Het |
| Slc45a2 |
T |
A |
15: 11,012,610 (GRCm39) |
H204Q |
probably benign |
Het |
| Slc9a4 |
T |
G |
1: 40,623,301 (GRCm39) |
I180S |
probably damaging |
Het |
| Smyd1 |
T |
A |
6: 71,193,767 (GRCm39) |
Y420F |
probably damaging |
Het |
| Sorcs1 |
A |
G |
19: 50,139,658 (GRCm39) |
I1168T |
probably benign |
Het |
| Syne1 |
T |
C |
10: 5,033,861 (GRCm39) |
E7737G |
possibly damaging |
Het |
| Trappc4 |
T |
A |
9: 44,316,560 (GRCm39) |
H145L |
probably benign |
Het |
| Wdr75 |
T |
A |
1: 45,856,560 (GRCm39) |
W528R |
probably damaging |
Het |
| Zc3h13 |
T |
C |
14: 75,569,512 (GRCm39) |
V1453A |
probably benign |
Het |
| Zfp143 |
T |
C |
7: 109,681,110 (GRCm39) |
I318T |
probably benign |
Het |
| Zfp846 |
G |
A |
9: 20,505,352 (GRCm39) |
R404H |
possibly damaging |
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 |
|
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 |
|
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'- CATCCAGCAAAGTGGCTTTTCTAAAG -3'
(R):5'- ACCTGAGCTGCTCCTCTAAG -3'
Sequencing Primer
(F):5'- TCTAAAGCTGCGCCCATG -3'
(R):5'- TCCTCTAAGGATGGGGAGGC -3'
|
| Posted On |
2021-03-08 |
Incidental Mutation