Incidental Mutation 'R6416:Ehbp1l1'
| ID |
517973 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Ehbp1l1
|
| Ensembl Gene |
ENSMUSG00000024937 |
| Gene Name |
EH domain binding protein 1-like 1 |
| Synonyms |
G430002G23Rik |
| MMRRC Submission |
044558-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R6416 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
19 |
| Chromosomal Location |
5757404-5776345 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 5768785 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Methionine
at position 839
(I839M)
|
| 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: I839M
PolyPhen 2
Score 0.008 (Sensitivity: 0.96; Specificity: 0.76)
|
| SMART Domains |
Protein: ENSMUSP00000037656
Gene: ENSMUSG00000024937
AA Change: I839M
| 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: 100.0%
- 3x: 99.8%
- 10x: 98.4%
- 20x: 94.6%
|
| Validation Efficiency |
99% (67/68) |
| 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: 68 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 2310061N02Rik |
C |
A |
16: 88,504,779 (GRCm39) |
R6L |
unknown |
Het |
| Anxa11 |
A |
G |
14: 25,874,694 (GRCm39) |
Q235R |
possibly damaging |
Het |
| Ap2b1 |
T |
A |
11: 83,199,065 (GRCm39) |
M1K |
probably null |
Het |
| Atl2 |
G |
A |
17: 80,157,652 (GRCm39) |
T563I |
probably benign |
Het |
| Azin1 |
A |
T |
15: 38,492,587 (GRCm39) |
S307R |
possibly damaging |
Het |
| Ccdc153 |
A |
G |
9: 44,157,077 (GRCm39) |
T118A |
probably benign |
Het |
| Chac1 |
G |
A |
2: 119,184,015 (GRCm39) |
V206I |
probably damaging |
Het |
| Chrm3 |
A |
G |
13: 9,927,698 (GRCm39) |
V446A |
probably benign |
Het |
| Cped1 |
T |
C |
6: 22,123,648 (GRCm39) |
F467S |
probably damaging |
Het |
| Csmd3 |
G |
A |
15: 48,536,956 (GRCm39) |
P82L |
probably damaging |
Het |
| Ddx60 |
T |
A |
8: 62,430,984 (GRCm39) |
S840T |
probably benign |
Het |
| Ddx60 |
C |
T |
8: 62,451,715 (GRCm39) |
H1202Y |
probably benign |
Het |
| Dnah8 |
T |
A |
17: 30,984,609 (GRCm39) |
N3102K |
probably benign |
Het |
| Dst |
A |
T |
1: 34,155,209 (GRCm39) |
K85M |
probably damaging |
Het |
| Fam184b |
T |
A |
5: 45,694,995 (GRCm39) |
M750L |
probably benign |
Het |
| Frem2 |
T |
C |
3: 53,479,799 (GRCm39) |
T1965A |
probably benign |
Het |
| Ftl1 |
A |
T |
7: 45,108,634 (GRCm39) |
D41E |
probably benign |
Het |
| Garem2 |
G |
A |
5: 30,321,735 (GRCm39) |
W698* |
probably null |
Het |
| Glt8d2 |
T |
C |
10: 82,488,740 (GRCm39) |
Y283C |
probably damaging |
Het |
| Hars1 |
T |
C |
18: 36,906,643 (GRCm39) |
E109G |
possibly damaging |
Het |
| Hspb9 |
T |
C |
11: 100,605,036 (GRCm39) |
S121P |
probably damaging |
Het |
| Hus1b |
A |
T |
13: 31,131,188 (GRCm39) |
L157Q |
probably damaging |
Het |
| Hykk |
A |
G |
9: 54,853,643 (GRCm39) |
M322V |
probably benign |
Het |
| Igkv4-61 |
C |
A |
6: 69,394,138 (GRCm39) |
A31S |
possibly damaging |
Het |
| Il17f |
T |
A |
1: 20,848,131 (GRCm39) |
M116L |
probably benign |
Het |
| Kif22 |
T |
C |
7: 126,628,104 (GRCm39) |
K9E |
possibly damaging |
Het |
| Krt90 |
T |
C |
15: 101,467,679 (GRCm39) |
E233G |
probably benign |
Het |
| Lipg |
T |
C |
18: 75,090,307 (GRCm39) |
M81V |
probably benign |
Het |
| Mocos |
C |
T |
18: 24,834,513 (GRCm39) |
S850L |
probably damaging |
Het |
| Mug2 |
T |
A |
6: 122,059,713 (GRCm39) |
S1364T |
probably damaging |
Het |
| Neb |
A |
T |
2: 52,075,340 (GRCm39) |
N208K |
probably benign |
Het |
| Oca2 |
G |
T |
7: 55,978,515 (GRCm39) |
R561L |
probably benign |
Het |
| Olfm5 |
A |
G |
7: 103,803,260 (GRCm39) |
L401P |
probably damaging |
Het |
| Or12d17 |
T |
A |
17: 37,777,971 (GRCm39) |
Y291* |
probably null |
Het |
| Or2t49 |
T |
C |
11: 58,393,166 (GRCm39) |
D72G |
probably damaging |
Het |
| Or4a39 |
C |
A |
2: 89,236,866 (GRCm39) |
A186S |
possibly damaging |
Het |
| Or7g16 |
G |
A |
9: 18,727,188 (GRCm39) |
T134M |
probably benign |
Het |
| Or8g33 |
T |
A |
9: 39,338,187 (GRCm39) |
Y60F |
probably damaging |
Het |
| Oxgr1 |
T |
C |
14: 120,259,860 (GRCm39) |
N116D |
probably damaging |
Het |
| Pcdha11 |
G |
T |
18: 37,145,222 (GRCm39) |
|
probably null |
Het |
| Pi4ka |
T |
C |
16: 17,176,186 (GRCm39) |
I418V |
probably benign |
Het |
| Pih1d2 |
T |
C |
9: 50,529,909 (GRCm39) |
V62A |
probably benign |
Het |
| Pkib |
T |
A |
10: 57,604,234 (GRCm39) |
V46E |
probably damaging |
Het |
| Pum1 |
A |
G |
4: 130,455,598 (GRCm39) |
|
probably null |
Het |
| Rbak |
G |
T |
5: 143,162,307 (GRCm39) |
Q19K |
possibly damaging |
Het |
| Sema3c |
A |
G |
5: 17,781,959 (GRCm39) |
T32A |
probably damaging |
Het |
| Shprh |
T |
C |
10: 11,043,617 (GRCm39) |
W835R |
probably damaging |
Het |
| Sis |
T |
G |
3: 72,819,187 (GRCm39) |
K1456N |
probably damaging |
Het |
| Slc4a4 |
A |
T |
5: 89,327,588 (GRCm39) |
N675I |
probably benign |
Het |
| Slc8a3 |
C |
A |
12: 81,362,401 (GRCm39) |
M139I |
probably damaging |
Het |
| Sorcs3 |
T |
C |
19: 48,791,198 (GRCm39) |
F1182S |
probably damaging |
Het |
| St8sia2 |
A |
T |
7: 73,621,669 (GRCm39) |
I96N |
probably damaging |
Het |
| Stx19 |
T |
C |
16: 62,642,420 (GRCm39) |
S79P |
probably damaging |
Het |
| Tecta |
C |
T |
9: 42,286,563 (GRCm39) |
V698M |
probably damaging |
Het |
| Timm22 |
T |
C |
11: 76,301,965 (GRCm39) |
S150P |
probably damaging |
Het |
| Tjp1 |
C |
T |
7: 64,962,953 (GRCm39) |
D995N |
possibly damaging |
Het |
| Tmem135 |
T |
A |
7: 88,797,002 (GRCm39) |
T365S |
probably benign |
Het |
| Tmem174 |
T |
C |
13: 98,773,489 (GRCm39) |
T114A |
probably benign |
Het |
| Tnc |
A |
G |
4: 63,926,053 (GRCm39) |
I909T |
probably benign |
Het |
| Trcg1 |
A |
G |
9: 57,148,613 (GRCm39) |
I62V |
possibly damaging |
Het |
| Tulp1 |
A |
T |
17: 28,575,005 (GRCm39) |
*487K |
probably null |
Het |
| Unc79 |
T |
A |
12: 103,097,905 (GRCm39) |
V1826E |
possibly damaging |
Het |
| Vmn2r13 |
A |
T |
5: 109,321,982 (GRCm39) |
N238K |
probably damaging |
Het |
| Vmn2r22 |
T |
A |
6: 123,614,697 (GRCm39) |
N298Y |
probably damaging |
Het |
| Vmn2r23 |
T |
A |
6: 123,689,861 (GRCm39) |
F246I |
probably damaging |
Het |
| Vps9d1 |
A |
C |
8: 123,975,378 (GRCm39) |
V194G |
probably damaging |
Het |
| Zfp260 |
A |
T |
7: 29,804,235 (GRCm39) |
H45L |
possibly damaging |
Het |
| Zfp846 |
A |
T |
9: 20,505,016 (GRCm39) |
H292L |
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 |
|
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'- GGGTCCCTAAGAGCTCAGATTC -3'
(R):5'- GGAGACCGATGTTTCAGTGATG -3'
Sequencing Primer
(F):5'- CCCTAAGAGCTCAGATTCTGGTAG -3'
(R):5'- ACCGATGTTTCAGTGATGGAGAC -3'
|
| Posted On |
2018-05-24 |
Incidental Mutation