Incidental Mutation 'R9453:Ehbp1l1'
| ID |
714429 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Ehbp1l1
|
| Ensembl Gene |
ENSMUSG00000024937 |
| Gene Name |
EH domain binding protein 1-like 1 |
| Synonyms |
G430002G23Rik |
| MMRRC Submission |
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R9453 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
19 |
| Chromosomal Location |
5757404-5776345 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to A
at 5758371 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Arginine to Cysteine
at position 1714
(R1714C)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000037656
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000049295]
[ENSMUST00000052448]
[ENSMUST00000075606]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
unknown
Transcript: ENSMUST00000049295
AA Change: R1714C
|
| SMART Domains |
Protein: ENSMUSP00000037656
Gene: ENSMUSG00000024937
AA Change: R1714C
| 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: ENSMUST00000052448
|
| SMART Domains |
Protein: ENSMUSP00000051278
Gene: ENSMUSG00000024936
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
24 |
N/A |
INTRINSIC |
|
Pfam:Ion_trans_2
|
67 |
145 |
3.2e-14 |
PFAM |
|
Pfam:Ion_trans_2
|
175 |
261 |
8.8e-12 |
PFAM |
|
| Predicted Effect |
unknown
Transcript: ENSMUST00000075606
AA Change: R770C
|
| SMART Domains |
Protein: ENSMUSP00000126740
Gene: ENSMUSG00000024937
AA Change: R770C
| 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: 99.9%
- 10x: 99.6%
- 20x: 98.6%
|
| 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: 62 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 2810021J22Rik |
G |
A |
11: 58,771,054 (GRCm39) |
A179T |
probably benign |
Het |
| Abca6 |
A |
G |
11: 110,138,090 (GRCm39) |
|
probably null |
Het |
| Agps |
A |
C |
2: 75,662,585 (GRCm39) |
D10A |
probably damaging |
Het |
| Atad2b |
T |
A |
12: 5,081,578 (GRCm39) |
D1162E |
probably benign |
Het |
| Atp13a4 |
T |
C |
16: 29,239,659 (GRCm39) |
K851R |
unknown |
Het |
| Cdh15 |
A |
G |
8: 123,586,029 (GRCm39) |
D136G |
probably damaging |
Het |
| Cdk5rap1 |
A |
T |
2: 154,190,585 (GRCm39) |
Y459N |
probably damaging |
Het |
| Cep192 |
A |
T |
18: 67,989,354 (GRCm39) |
K1834* |
probably null |
Het |
| Cfap221 |
C |
T |
1: 119,853,361 (GRCm39) |
V778I |
probably benign |
Het |
| Chpf |
G |
A |
1: 75,452,854 (GRCm39) |
T362I |
probably benign |
Het |
| Cyp4x1 |
T |
C |
4: 114,991,069 (GRCm39) |
R36G |
probably damaging |
Het |
| D16Ertd472e |
T |
A |
16: 78,342,052 (GRCm39) |
Q276L |
probably damaging |
Het |
| Dapk3 |
T |
C |
10: 81,025,825 (GRCm39) |
Y39H |
probably damaging |
Het |
| Eefsec |
T |
C |
6: 88,353,337 (GRCm39) |
T111A |
probably damaging |
Het |
| Flcn |
A |
G |
11: 59,694,609 (GRCm39) |
V121A |
probably damaging |
Het |
| Gaa |
G |
T |
11: 119,165,958 (GRCm39) |
D423Y |
probably damaging |
Het |
| Gaa |
A |
C |
11: 119,165,959 (GRCm39) |
D423A |
probably benign |
Het |
| Garnl3 |
A |
G |
2: 32,893,881 (GRCm39) |
I694T |
probably damaging |
Het |
| Gm5114 |
T |
A |
7: 39,058,242 (GRCm39) |
Q459L |
probably damaging |
Het |
| H1f0 |
C |
T |
15: 78,912,947 (GRCm39) |
P9L |
probably damaging |
Het |
| Hmmr |
A |
G |
11: 40,612,655 (GRCm39) |
|
probably null |
Het |
| Klra5 |
C |
A |
6: 129,883,686 (GRCm39) |
W147L |
possibly damaging |
Het |
| Lmnb1 |
G |
A |
18: 56,873,114 (GRCm39) |
|
probably null |
Het |
| Lrp2 |
T |
C |
2: 69,288,832 (GRCm39) |
Y3678C |
probably damaging |
Het |
| Map7 |
T |
C |
10: 20,153,981 (GRCm39) |
V699A |
unknown |
Het |
| Mme |
G |
T |
3: 63,272,306 (GRCm39) |
G635V |
possibly damaging |
Het |
| Mroh8 |
A |
T |
2: 157,071,948 (GRCm39) |
I519N |
possibly damaging |
Het |
| Mrps11 |
T |
C |
7: 78,442,390 (GRCm39) |
S157P |
probably damaging |
Het |
| Muc16 |
T |
C |
9: 18,572,061 (GRCm39) |
T153A |
unknown |
Het |
| Nlrp1b |
A |
G |
11: 71,072,913 (GRCm39) |
V310A |
probably damaging |
Het |
| Oas1f |
T |
C |
5: 120,993,592 (GRCm39) |
V268A |
probably damaging |
Het |
| Or56a3b |
T |
A |
7: 104,770,817 (GRCm39) |
I51N |
|
Het |
| Or6y1 |
A |
T |
1: 174,276,233 (GRCm39) |
T15S |
probably benign |
Het |
| Padi4 |
A |
G |
4: 140,479,950 (GRCm39) |
L401P |
probably benign |
Het |
| Pdzd7 |
A |
G |
19: 45,016,056 (GRCm39) |
*1022Q |
probably null |
Het |
| Plcl2 |
C |
A |
17: 50,915,391 (GRCm39) |
T800K |
probably damaging |
Het |
| Polr1has |
TCACCACCACCACCACCACCACCAC |
TCACCACCACCACCACCACCAC |
17: 37,275,939 (GRCm39) |
|
probably benign |
Het |
| Ppp1r37 |
A |
T |
7: 19,295,796 (GRCm39) |
F54I |
probably damaging |
Het |
| Prl7c1 |
T |
A |
13: 27,957,870 (GRCm39) |
Y190F |
probably benign |
Het |
| Prpf8 |
A |
G |
11: 75,397,212 (GRCm39) |
E2015G |
possibly damaging |
Het |
| Rpap3 |
A |
G |
15: 97,579,641 (GRCm39) |
V457A |
|
Het |
| Samd13 |
A |
T |
3: 146,368,510 (GRCm39) |
D27E |
|
Het |
| Sephs1 |
A |
T |
2: 4,889,174 (GRCm39) |
|
probably benign |
Het |
| Slc22a20 |
T |
G |
19: 6,023,024 (GRCm39) |
Q373P |
probably damaging |
Het |
| Sp100 |
A |
G |
1: 85,629,179 (GRCm39) |
*483W |
probably null |
Het |
| Src |
A |
T |
2: 157,307,852 (GRCm39) |
T254S |
probably damaging |
Het |
| St6galnac2 |
A |
T |
11: 116,569,344 (GRCm39) |
M301K |
possibly damaging |
Het |
| Tnfsf13 |
A |
T |
11: 69,576,010 (GRCm39) |
W26R |
probably damaging |
Het |
| Trbv28 |
T |
A |
6: 41,248,687 (GRCm39) |
D72E |
probably benign |
Het |
| Trim75 |
T |
A |
8: 65,436,561 (GRCm39) |
|
probably benign |
Het |
| Ttc39d |
T |
C |
17: 80,524,754 (GRCm39) |
F471S |
probably damaging |
Het |
| Vav1 |
C |
T |
17: 57,613,191 (GRCm39) |
P621L |
probably benign |
Het |
| Vezt |
A |
T |
10: 93,832,856 (GRCm39) |
L185* |
probably null |
Het |
| Vmn2r42 |
T |
C |
7: 8,187,295 (GRCm39) |
I826V |
probably benign |
Het |
| Vmn2r67 |
G |
A |
7: 84,800,697 (GRCm39) |
T413M |
probably benign |
Het |
| Vnn1 |
G |
A |
10: 23,776,723 (GRCm39) |
C358Y |
probably damaging |
Het |
| Wdr83os |
G |
C |
8: 85,808,638 (GRCm39) |
W106C |
probably damaging |
Het |
| Wdr95 |
T |
C |
5: 149,475,917 (GRCm39) |
S72P |
probably damaging |
Het |
| Zfp423 |
T |
A |
8: 88,508,251 (GRCm39) |
T698S |
probably damaging |
Het |
| Zfp521 |
G |
A |
18: 13,977,293 (GRCm39) |
T1040I |
probably damaging |
Het |
| Zfp563 |
T |
A |
17: 33,308,565 (GRCm39) |
V9E |
|
Het |
| Zmym2 |
T |
A |
14: 57,180,770 (GRCm39) |
V894E |
probably 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 |
|
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 |
|
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'- TGCTCCCTCCAGAAGAGAAG -3'
(R):5'- GTTTTGAAGAAGCCCCAGGG -3'
Sequencing Primer
(F):5'- ATGTGGGTGTCAGTCCCC -3'
(R):5'- AGGGCGCACTCCTGGAG -3'
|
| Posted On |
2022-06-15 |
Incidental Mutation