Incidental Mutation 'R5602:Ehbp1l1'
| ID |
501217 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Ehbp1l1
|
| Ensembl Gene |
ENSMUSG00000024937 |
| Gene Name |
EH domain binding protein 1-like 1 |
| Synonyms |
G430002G23Rik |
| MMRRC Submission |
043154-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R5602 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
19 |
| Chromosomal Location |
5757404-5776345 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 5758698 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamic Acid to Glycine
at position 1648
(E1648G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000037656
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000049295]
[ENSMUST00000052448]
[ENSMUST00000075606]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000049295
AA Change: E1648G
PolyPhen 2
Score 0.847 (Sensitivity: 0.83; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000037656
Gene: ENSMUSG00000024937
AA Change: E1648G
| 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: E704G
|
| SMART Domains |
Protein: ENSMUSP00000126740
Gene: ENSMUSG00000024937
AA Change: E704G
| 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: 99.7%
- 10x: 98.6%
- 20x: 96.2%
|
| 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: 56 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4921509C19Rik |
G |
A |
2: 151,315,459 (GRCm39) |
S73F |
possibly damaging |
Het |
| 4932414N04Rik |
A |
T |
2: 68,578,712 (GRCm39) |
*753L |
probably null |
Het |
| Acyp2 |
C |
T |
11: 30,456,354 (GRCm39) |
E98K |
possibly damaging |
Het |
| Adam19 |
T |
C |
11: 46,027,142 (GRCm39) |
S592P |
probably benign |
Het |
| Adamtsl3 |
A |
G |
7: 82,206,447 (GRCm39) |
K843R |
possibly damaging |
Het |
| Ap2a2 |
A |
T |
7: 141,184,855 (GRCm39) |
T213S |
probably benign |
Het |
| Asb5 |
A |
G |
8: 55,038,974 (GRCm39) |
E280G |
probably benign |
Het |
| Becn1 |
T |
C |
11: 101,179,778 (GRCm39) |
D403G |
probably damaging |
Het |
| Ccr7 |
G |
T |
11: 99,036,315 (GRCm39) |
N202K |
probably benign |
Het |
| Cd36 |
T |
C |
5: 18,019,790 (GRCm39) |
T104A |
possibly damaging |
Het |
| Cnot4 |
C |
T |
6: 35,028,464 (GRCm39) |
W384* |
probably null |
Het |
| Col15a1 |
G |
A |
4: 47,312,087 (GRCm39) |
V1301M |
probably damaging |
Het |
| Dock2 |
C |
A |
11: 34,204,391 (GRCm39) |
A1384S |
probably benign |
Het |
| Fbn1 |
G |
T |
2: 125,163,661 (GRCm39) |
A2065E |
possibly damaging |
Het |
| Fras1 |
A |
G |
5: 96,884,880 (GRCm39) |
Y2586C |
probably damaging |
Het |
| Galm |
T |
A |
17: 80,457,568 (GRCm39) |
Y28* |
probably null |
Het |
| Ggt7 |
A |
G |
2: 155,332,919 (GRCm39) |
V648A |
possibly damaging |
Het |
| Gm17067 |
T |
A |
7: 42,357,839 (GRCm39) |
D221V |
probably damaging |
Het |
| Gpr3 |
T |
C |
4: 132,937,805 (GRCm39) |
N289S |
probably damaging |
Het |
| Ighv11-2 |
A |
G |
12: 114,012,277 (GRCm39) |
|
probably benign |
Het |
| Ighv11-2 |
G |
A |
12: 114,012,099 (GRCm39) |
L39F |
probably damaging |
Het |
| Ipo9 |
G |
A |
1: 135,329,983 (GRCm39) |
L486F |
probably damaging |
Het |
| Jak2 |
T |
A |
19: 29,275,739 (GRCm39) |
N726K |
probably benign |
Het |
| Map4 |
T |
C |
9: 109,881,768 (GRCm39) |
S211P |
possibly damaging |
Het |
| Mlh1 |
A |
T |
9: 111,081,946 (GRCm39) |
L259Q |
probably damaging |
Het |
| Naa25 |
A |
G |
5: 121,558,558 (GRCm39) |
E300G |
probably benign |
Het |
| Or8g34 |
A |
T |
9: 39,373,326 (GRCm39) |
M200L |
probably benign |
Het |
| Or8g54 |
T |
A |
9: 39,707,490 (GRCm39) |
V273E |
possibly damaging |
Het |
| Parva |
G |
A |
7: 112,166,972 (GRCm39) |
V182I |
probably benign |
Het |
| Pcdhgb4 |
T |
C |
18: 37,854,697 (GRCm39) |
I364T |
probably damaging |
Het |
| Pdik1l |
A |
G |
4: 134,011,580 (GRCm39) |
S164P |
probably damaging |
Het |
| Pfas |
A |
T |
11: 68,881,871 (GRCm39) |
I938N |
probably benign |
Het |
| Plscr1l1 |
G |
A |
9: 92,234,721 (GRCm39) |
C152Y |
possibly damaging |
Het |
| Prdm4 |
TCTCCTCCT |
TCTCCT |
10: 85,728,987 (GRCm39) |
|
probably null |
Het |
| Prob1 |
C |
T |
18: 35,787,079 (GRCm39) |
V392M |
possibly damaging |
Het |
| Rasgrf1 |
T |
C |
9: 89,793,624 (GRCm39) |
S134P |
possibly damaging |
Het |
| Rorb |
T |
A |
19: 18,955,301 (GRCm39) |
Y20F |
probably damaging |
Het |
| Rsph9 |
G |
T |
17: 46,445,909 (GRCm39) |
D220E |
probably damaging |
Het |
| Safb2 |
C |
A |
17: 56,882,630 (GRCm39) |
K334N |
possibly damaging |
Het |
| Sall3 |
T |
C |
18: 81,016,027 (GRCm39) |
T634A |
probably benign |
Het |
| Scaf1 |
A |
G |
7: 44,657,007 (GRCm39) |
|
probably benign |
Het |
| Slco1a5 |
T |
A |
6: 142,221,255 (GRCm39) |
|
probably benign |
Het |
| Spata21 |
C |
T |
4: 140,824,210 (GRCm39) |
R158C |
probably benign |
Het |
| Srrm2 |
G |
A |
17: 24,038,311 (GRCm39) |
|
probably benign |
Het |
| Stk38l |
C |
A |
6: 146,659,998 (GRCm39) |
T10N |
probably benign |
Het |
| Supv3l1 |
G |
A |
10: 62,266,371 (GRCm39) |
P602S |
possibly damaging |
Het |
| Timm44 |
C |
T |
8: 4,316,769 (GRCm39) |
|
probably null |
Het |
| Tll2 |
T |
A |
19: 41,093,420 (GRCm39) |
R465S |
possibly damaging |
Het |
| Tmem104 |
G |
A |
11: 115,095,950 (GRCm39) |
A164T |
probably damaging |
Het |
| Tmem151b |
A |
G |
17: 45,856,526 (GRCm39) |
S305P |
probably damaging |
Het |
| Utrn |
T |
C |
10: 12,625,839 (GRCm39) |
D114G |
probably damaging |
Het |
| Vmn2r109 |
A |
T |
17: 20,760,933 (GRCm39) |
M808K |
possibly damaging |
Het |
| Washc2 |
T |
A |
6: 116,225,056 (GRCm39) |
D801E |
possibly damaging |
Het |
| Xkr4 |
T |
C |
1: 3,286,751 (GRCm39) |
I480V |
probably benign |
Het |
| Zfp507 |
G |
T |
7: 35,475,663 (GRCm39) |
S58* |
probably null |
Het |
| Zfp768 |
T |
A |
7: 126,943,804 (GRCm39) |
D108V |
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 |
|
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'- AGTTAGTCTCAAAGTTGGCCCTAC -3'
(R):5'- TTCTCTGACAGCATCGAGGAG -3'
Sequencing Primer
(F):5'- AAGTTGGCCCTACTTGCAAG -3'
(R):5'- CATCGAGGAGCAGGACTTG -3'
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| Posted On |
2017-12-01 |
Incidental Mutation