Incidental Mutation 'R8239:Ehbp1l1'
| ID |
637535 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Ehbp1l1
|
| Ensembl Gene |
ENSMUSG00000024937 |
| Gene Name |
EH domain binding protein 1-like 1 |
| Synonyms |
G430002G23Rik |
| MMRRC Submission |
067646-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R8239 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
19 |
| Chromosomal Location |
5757404-5776345 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 5770089 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Serine
at position 405
(T405S)
|
| 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: T405S
PolyPhen 2
Score 0.528 (Sensitivity: 0.88; Specificity: 0.90)
|
| SMART Domains |
Protein: ENSMUSP00000037656
Gene: ENSMUSG00000024937
AA Change: T405S
| 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: 99.9%
- 3x: 99.8%
- 10x: 99.5%
- 20x: 98.9%
|
| 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: 53 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adam39 |
T |
C |
8: 41,278,106 (GRCm39) |
S166P |
probably damaging |
Het |
| Appl1 |
T |
A |
14: 26,686,914 (GRCm39) |
T19S |
probably damaging |
Het |
| Arid4b |
T |
A |
13: 14,344,594 (GRCm39) |
D557E |
probably benign |
Het |
| Aven |
C |
T |
2: 112,390,120 (GRCm39) |
R8W |
probably benign |
Het |
| C2cd2l |
T |
C |
9: 44,227,502 (GRCm39) |
E307G |
possibly damaging |
Het |
| Cdh20 |
A |
C |
1: 110,027,832 (GRCm39) |
T526P |
probably benign |
Het |
| Dchs1 |
C |
T |
7: 105,414,718 (GRCm39) |
V775M |
probably benign |
Het |
| Dennd1b |
A |
G |
1: 138,969,673 (GRCm39) |
N63S |
probably benign |
Het |
| Dtnb |
A |
T |
12: 3,694,056 (GRCm39) |
Y248F |
unknown |
Het |
| Fam149a |
A |
G |
8: 45,803,490 (GRCm39) |
Y415H |
possibly damaging |
Het |
| Fam186a |
A |
G |
15: 99,839,191 (GRCm39) |
L2351P |
unknown |
Het |
| Fsip2 |
T |
G |
2: 82,819,687 (GRCm39) |
I5140S |
possibly damaging |
Het |
| Gm8674 |
T |
C |
13: 50,054,262 (GRCm39) |
T749A |
noncoding transcript |
Het |
| Kalrn |
A |
G |
16: 33,870,153 (GRCm39) |
V1894A |
noncoding transcript |
Het |
| Kpna3 |
A |
T |
14: 61,624,919 (GRCm39) |
N141K |
probably damaging |
Het |
| Lrba |
G |
A |
3: 86,449,882 (GRCm39) |
G2067D |
probably damaging |
Het |
| Lrp2 |
G |
T |
2: 69,311,611 (GRCm39) |
Y2622* |
probably null |
Het |
| Lrtm2 |
A |
C |
6: 119,297,778 (GRCm39) |
F88V |
probably damaging |
Het |
| Mboat1 |
T |
C |
13: 30,429,333 (GRCm39) |
S454P |
probably damaging |
Het |
| Nkpd1 |
C |
T |
7: 19,253,753 (GRCm39) |
P40S |
probably benign |
Het |
| Or2b7 |
T |
C |
13: 21,739,788 (GRCm39) |
I135V |
probably benign |
Het |
| Or4a76 |
T |
A |
2: 89,460,907 (GRCm39) |
I112F |
probably damaging |
Het |
| Or8b54 |
G |
A |
9: 38,686,577 (GRCm39) |
V9M |
noncoding transcript |
Het |
| Or8k27 |
C |
A |
2: 86,275,473 (GRCm39) |
M284I |
noncoding transcript |
Het |
| Patj |
A |
G |
4: 98,570,308 (GRCm39) |
E1711G |
possibly damaging |
Het |
| Pcdha4 |
A |
T |
18: 37,086,128 (GRCm39) |
I104F |
probably damaging |
Het |
| Peg10 |
GC |
GCTCC |
6: 4,756,452 (GRCm39) |
|
probably benign |
Het |
| Plekhg4 |
C |
T |
8: 106,107,546 (GRCm39) |
R990* |
probably null |
Het |
| Pphln1 |
T |
C |
15: 93,386,930 (GRCm39) |
S343P |
probably benign |
Het |
| Pram1 |
A |
T |
17: 33,860,241 (GRCm39) |
K269N |
probably damaging |
Het |
| Psmd13 |
T |
A |
7: 140,466,450 (GRCm39) |
I79K |
probably damaging |
Het |
| Ptprf |
T |
C |
4: 118,069,309 (GRCm39) |
D1586G |
possibly damaging |
Het |
| Ptprh |
T |
A |
7: 4,584,090 (GRCm39) |
Q167H |
probably damaging |
Het |
| Rbm46 |
C |
T |
3: 82,772,775 (GRCm39) |
R119Q |
probably benign |
Het |
| Rreb1 |
T |
C |
13: 38,077,848 (GRCm39) |
M20T |
probably damaging |
Het |
| Scrn2 |
T |
G |
11: 96,923,046 (GRCm39) |
L163R |
probably damaging |
Het |
| Slc36a3 |
C |
T |
11: 55,022,433 (GRCm39) |
V254I |
probably benign |
Het |
| Slc6a6 |
T |
C |
6: 91,701,951 (GRCm39) |
F120L |
probably benign |
Het |
| Slc8a2 |
A |
T |
7: 15,879,230 (GRCm39) |
H572L |
probably benign |
Het |
| Spats2 |
T |
A |
15: 99,106,776 (GRCm39) |
D357E |
probably damaging |
Het |
| Speg |
A |
T |
1: 75,395,677 (GRCm39) |
N1816I |
probably damaging |
Het |
| Sult2b1 |
A |
G |
7: 45,433,361 (GRCm39) |
V2A |
unknown |
Het |
| Susd3 |
T |
C |
13: 49,384,731 (GRCm39) |
T231A |
probably benign |
Het |
| Tamalin |
C |
T |
15: 101,128,902 (GRCm39) |
L217F |
probably damaging |
Het |
| Tcp1 |
A |
G |
17: 13,139,738 (GRCm39) |
D261G |
probably benign |
Het |
| Trpm2 |
C |
G |
10: 77,771,836 (GRCm39) |
S601T |
probably benign |
Het |
| Ugt2b38 |
A |
T |
5: 87,571,659 (GRCm39) |
F124L |
probably benign |
Het |
| Unc80 |
G |
T |
1: 66,693,178 (GRCm39) |
E2522D |
probably benign |
Het |
| Usp34 |
A |
G |
11: 23,396,750 (GRCm39) |
T2365A |
|
Het |
| Vmn2r92 |
G |
T |
17: 18,405,278 (GRCm39) |
M807I |
probably benign |
Het |
| Vps13b |
C |
A |
15: 35,597,550 (GRCm39) |
P1030Q |
probably damaging |
Het |
| Wrn |
T |
G |
8: 33,819,213 (GRCm39) |
K246N |
probably damaging |
Het |
| Zer1 |
T |
A |
2: 29,991,147 (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 |
|
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 |
|
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'- TTCTTCAGGCTCAGCTGGAG -3'
(R):5'- GCTCAGATAAGCTCTCAGGAAG -3'
Sequencing Primer
(F):5'- AGGTCACTGGGAGCCTCTTC -3'
(R):5'- TAAGCTCTCAGGAAGGGACAG -3'
|
| Posted On |
2020-07-13 |
Incidental Mutation