Incidental Mutation 'R4726:Ehbp1l1'
| ID |
358504 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Ehbp1l1
|
| Ensembl Gene |
ENSMUSG00000024937 |
| Gene Name |
EH domain binding protein 1-like 1 |
| Synonyms |
G430002G23Rik |
| MMRRC Submission |
041989-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R4726 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
19 |
| Chromosomal Location |
5757404-5776345 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to A
at 5769204 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Alanine to Serine
at position 700
(A700S)
|
| 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: A700S
PolyPhen 2
Score 0.705 (Sensitivity: 0.86; Specificity: 0.92)
|
| SMART Domains |
Protein: ENSMUSP00000037656
Gene: ENSMUSG00000024937
AA Change: A700S
| 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 |
0.1795 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.1%
- 20x: 94.8%
|
| Validation Efficiency |
99% (74/75) |
| 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: 71 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4930583I09Rik |
T |
C |
17: 65,141,448 (GRCm39) |
S52G |
probably null |
Het |
| Abcc2 |
T |
C |
19: 43,820,553 (GRCm39) |
S1351P |
probably benign |
Het |
| Acp2 |
T |
A |
2: 91,034,622 (GRCm39) |
L87Q |
probably damaging |
Het |
| Adgrl3 |
C |
A |
5: 81,794,425 (GRCm39) |
T550K |
possibly damaging |
Het |
| Amotl2 |
A |
G |
9: 102,601,018 (GRCm39) |
R329G |
probably benign |
Het |
| Angel1 |
T |
C |
12: 86,768,649 (GRCm39) |
N278S |
probably damaging |
Het |
| Ankrd12 |
A |
C |
17: 66,277,319 (GRCm39) |
M1985R |
probably damaging |
Het |
| Apob |
T |
A |
12: 8,040,267 (GRCm39) |
F535I |
probably damaging |
Het |
| Art3 |
A |
G |
5: 92,559,002 (GRCm39) |
K313R |
probably benign |
Het |
| Asxl2 |
C |
T |
12: 3,551,872 (GRCm39) |
H1205Y |
possibly damaging |
Het |
| Bsph1 |
A |
T |
7: 13,206,920 (GRCm39) |
M99L |
probably benign |
Het |
| Ccdc153 |
T |
C |
9: 44,154,963 (GRCm39) |
|
probably null |
Het |
| Cdh16 |
A |
T |
8: 105,342,664 (GRCm39) |
M28K |
probably damaging |
Het |
| Cdhr2 |
T |
C |
13: 54,866,352 (GRCm39) |
F353L |
probably damaging |
Het |
| Chrna2 |
G |
T |
14: 66,386,345 (GRCm39) |
V164L |
possibly damaging |
Het |
| Cip2a |
A |
G |
16: 48,834,433 (GRCm39) |
T672A |
probably benign |
Het |
| Ckmt1 |
T |
C |
2: 121,191,712 (GRCm39) |
|
probably null |
Het |
| Col25a1 |
A |
T |
3: 130,313,430 (GRCm39) |
E280V |
possibly damaging |
Het |
| Dnajc12 |
A |
G |
10: 63,233,087 (GRCm39) |
D76G |
probably damaging |
Het |
| Drd3 |
G |
T |
16: 43,643,164 (GRCm39) |
E467* |
probably null |
Het |
| Ecpas |
A |
G |
4: 58,844,191 (GRCm39) |
V525A |
probably damaging |
Het |
| Gab1 |
T |
C |
8: 81,515,682 (GRCm39) |
D212G |
possibly damaging |
Het |
| Gm26996 |
A |
G |
6: 130,557,134 (GRCm39) |
|
noncoding transcript |
Het |
| Gm28113 |
A |
G |
15: 75,198,577 (GRCm39) |
|
noncoding transcript |
Het |
| Has3 |
T |
C |
8: 107,604,718 (GRCm39) |
F308S |
probably damaging |
Het |
| Ifit3b |
T |
A |
19: 34,588,860 (GRCm39) |
I12N |
probably benign |
Het |
| Ifna4 |
C |
A |
4: 88,760,519 (GRCm39) |
T141K |
probably benign |
Het |
| Ints3 |
A |
G |
3: 90,301,084 (GRCm39) |
S840P |
probably damaging |
Het |
| Itih4 |
T |
C |
14: 30,611,792 (GRCm39) |
V132A |
probably damaging |
Het |
| Itprid2 |
T |
A |
2: 79,493,101 (GRCm39) |
I1216N |
probably damaging |
Het |
| Kcnj10 |
A |
G |
1: 172,196,639 (GRCm39) |
Y51C |
probably damaging |
Het |
| Klk1b24 |
G |
A |
7: 43,839,820 (GRCm39) |
V60I |
probably damaging |
Het |
| Klra14-ps |
C |
A |
6: 130,134,626 (GRCm39) |
|
noncoding transcript |
Het |
| Krt6b |
A |
G |
15: 101,586,520 (GRCm39) |
I323T |
probably damaging |
Het |
| Lilra5 |
A |
C |
7: 4,240,957 (GRCm39) |
Q17P |
probably benign |
Het |
| Lrrc7 |
GAAGTTGTTTGGAGATTCTTATCTTA |
GA |
3: 158,024,045 (GRCm39) |
|
probably benign |
Het |
| Map3k4 |
T |
C |
17: 12,451,851 (GRCm39) |
N1479S |
possibly damaging |
Het |
| Mbd3l2 |
A |
T |
9: 18,356,256 (GRCm39) |
I194F |
probably damaging |
Het |
| Megf10 |
T |
C |
18: 57,420,864 (GRCm39) |
I834T |
probably benign |
Het |
| Mterf4 |
G |
A |
1: 93,229,471 (GRCm39) |
T251M |
probably damaging |
Het |
| Mtmr3 |
A |
T |
11: 4,457,634 (GRCm39) |
D170E |
probably damaging |
Het |
| Myom3 |
C |
T |
4: 135,534,586 (GRCm39) |
|
probably null |
Het |
| Nemp1 |
G |
A |
10: 127,530,462 (GRCm39) |
V305I |
probably benign |
Het |
| Nlrp1b |
G |
T |
11: 71,072,232 (GRCm39) |
T537K |
probably benign |
Het |
| Npdc1 |
G |
A |
2: 25,298,957 (GRCm39) |
D284N |
probably damaging |
Het |
| Or5b3 |
T |
A |
19: 13,388,469 (GRCm39) |
C179S |
probably damaging |
Het |
| Or6c206 |
A |
G |
10: 129,097,045 (GRCm39) |
T72A |
possibly damaging |
Het |
| Or8k28 |
A |
G |
2: 86,286,580 (GRCm39) |
F12L |
possibly damaging |
Het |
| Pias1 |
A |
G |
9: 62,827,771 (GRCm39) |
V212A |
probably damaging |
Het |
| Plscr1 |
T |
A |
9: 92,145,221 (GRCm39) |
V77D |
probably damaging |
Het |
| Plxna1 |
T |
C |
6: 89,299,798 (GRCm39) |
N1657S |
probably damaging |
Het |
| Ptprf |
A |
G |
4: 118,069,414 (GRCm39) |
V1551A |
possibly damaging |
Het |
| Ptprn2 |
C |
A |
12: 117,211,393 (GRCm39) |
Y857* |
probably null |
Het |
| Puf60 |
A |
T |
15: 75,944,183 (GRCm39) |
|
probably null |
Het |
| Rnf20 |
C |
T |
4: 49,654,579 (GRCm39) |
R879* |
probably null |
Het |
| Robo1 |
G |
A |
16: 72,768,931 (GRCm39) |
A499T |
probably damaging |
Het |
| Slc39a14 |
A |
G |
14: 70,551,048 (GRCm39) |
|
probably null |
Het |
| Smarcad1 |
A |
T |
6: 65,052,025 (GRCm39) |
H6L |
probably damaging |
Het |
| Smg5 |
A |
G |
3: 88,243,758 (GRCm39) |
S10G |
possibly damaging |
Het |
| Stk39 |
T |
A |
2: 68,093,647 (GRCm39) |
D488V |
probably damaging |
Het |
| Stx19 |
A |
G |
16: 62,642,495 (GRCm39) |
N104D |
probably benign |
Het |
| Tcstv1b |
A |
T |
13: 120,635,173 (GRCm39) |
S152C |
possibly damaging |
Het |
| Tmem222 |
T |
C |
4: 133,004,975 (GRCm39) |
M21V |
probably benign |
Het |
| Trim43b |
T |
A |
9: 88,971,538 (GRCm39) |
N205I |
possibly damaging |
Het |
| Ubr4 |
C |
A |
4: 139,209,890 (GRCm39) |
H5017N |
possibly damaging |
Het |
| Vmn2r93 |
A |
G |
17: 18,536,960 (GRCm39) |
T548A |
probably damaging |
Het |
| Vps8 |
G |
A |
16: 21,267,154 (GRCm39) |
|
probably null |
Het |
| Wasl |
A |
G |
6: 24,633,110 (GRCm39) |
V176A |
probably benign |
Het |
| Wbp2nl |
T |
A |
15: 82,190,255 (GRCm39) |
V61E |
probably damaging |
Het |
| Zfp959 |
T |
A |
17: 56,205,260 (GRCm39) |
|
probably null |
Het |
| Zmiz1 |
T |
C |
14: 25,644,098 (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 |
|
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'- GGATCCCCAATGTCTCAGTTC -3'
(R):5'- GTGCTGAGGACCCAGAATAAC -3'
Sequencing Primer
(F):5'- CCAATGTCTCAGTTCCTGCTG -3'
(R):5'- CTGAGGACCCAGAATAACGAGATC -3'
|
| Posted On |
2015-11-11 |
Incidental Mutation