Incidental Mutation 'R7737:Ephb1'
| ID |
596328 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Ephb1
|
| Ensembl Gene |
ENSMUSG00000032537 |
| Gene Name |
Eph receptor B1 |
| Synonyms |
Net, C130099E04Rik, Cek6, Hek6, Elkh, Elk |
| MMRRC Submission |
045793-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R7737 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
9 |
| Chromosomal Location |
101799327-102231892 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 101861302 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Phenylalanine
at position 621
(I621F)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000035129
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000035129]
[ENSMUST00000085169]
|
| AlphaFold |
Q8CBF3 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000035129
AA Change: I621F
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000035129
Gene: ENSMUSG00000032537
AA Change: I621F
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
17 |
N/A |
INTRINSIC |
|
EPH_lbd
|
19 |
196 |
1.69e-129 |
SMART |
|
FN3
|
323 |
416 |
2.44e-5 |
SMART |
|
FN3
|
434 |
515 |
2.26e-9 |
SMART |
|
Pfam:EphA2_TM
|
542 |
616 |
3e-24 |
PFAM |
|
TyrKc
|
619 |
878 |
6.45e-141 |
SMART |
|
SAM
|
908 |
975 |
1.22e-21 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000085169
|
| SMART Domains |
Protein: ENSMUSP00000082261
Gene: ENSMUSG00000032537
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
17 |
N/A |
INTRINSIC |
|
EPH_lbd
|
19 |
196 |
1.69e-129 |
SMART |
|
FN3
|
323 |
416 |
2.44e-5 |
SMART |
|
FN3
|
434 |
515 |
2.26e-9 |
SMART |
|
transmembrane domain
|
541 |
563 |
N/A |
INTRINSIC |
|
TyrKc
|
585 |
837 |
2.35e-134 |
SMART |
|
SAM
|
867 |
934 |
1.22e-21 |
SMART |
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.7%
- 20x: 99.0%
|
| Validation Efficiency |
98% (63/64) |
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Ephrin receptors and their ligands, the ephrins, mediate numerous developmental processes, particularly in the nervous system. Based on their structures and sequence relationships, ephrins are divided into the ephrin-A (EFNA) class, which are anchored to the membrane by a glycosylphosphatidylinositol linkage, and the ephrin-B (EFNB) class, which are transmembrane proteins. The Eph family of receptors are divided into 2 groups based on the similarity of their extracellular domain sequences and their affinities for binding ephrin-A and ephrin-B ligands. Ephrin receptors make up the largest subgroup of the receptor tyrosine kinase (RTK) family. The protein encoded by this gene is a receptor for ephrin-B family members. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for disruptions of this gene display marked reductions of the ipsilateral optic tract. Homozygotes for one null allele show reduced corticospinal tract and abnormal anterior commissure axon crossing. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 67 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adamts18 |
A |
T |
8: 114,463,566 (GRCm39) |
|
probably null |
Het |
| Akap3 |
T |
A |
6: 126,851,065 (GRCm39) |
M861K |
probably damaging |
Het |
| Ankrd42 |
T |
C |
7: 92,254,470 (GRCm39) |
T380A |
possibly damaging |
Het |
| Arhgef5 |
A |
G |
6: 43,250,728 (GRCm39) |
E493G |
possibly damaging |
Het |
| Arvcf |
G |
A |
16: 18,214,966 (GRCm39) |
R119Q |
probably damaging |
Het |
| Asmt |
T |
C |
X: 169,110,175 (GRCm39) |
F228S |
probably damaging |
Het |
| Atp2c2 |
T |
A |
8: 120,469,134 (GRCm39) |
V349E |
probably damaging |
Het |
| BC034090 |
A |
G |
1: 155,117,419 (GRCm39) |
V233A |
possibly damaging |
Het |
| Brinp3 |
G |
T |
1: 146,558,332 (GRCm39) |
K85N |
probably damaging |
Het |
| Ccr6 |
G |
A |
17: 8,463,926 (GRCm39) |
|
probably benign |
Het |
| D7Ertd443e |
A |
G |
7: 133,871,930 (GRCm39) |
S644P |
probably damaging |
Het |
| Ddb1 |
C |
T |
19: 10,603,338 (GRCm39) |
A882V |
possibly damaging |
Het |
| Epha4 |
C |
T |
1: 77,357,649 (GRCm39) |
G783D |
probably damaging |
Het |
| Fbxw18 |
G |
T |
9: 109,530,331 (GRCm39) |
Y93* |
probably null |
Het |
| Fcgbpl1 |
T |
A |
7: 27,856,498 (GRCm39) |
V2095E |
probably damaging |
Het |
| Gak |
A |
C |
5: 108,764,874 (GRCm39) |
L84R |
probably benign |
Het |
| Gm5458 |
A |
T |
14: 19,649,805 (GRCm39) |
|
probably null |
Het |
| Gpatch3 |
C |
G |
4: 133,302,407 (GRCm39) |
Q113E |
probably benign |
Het |
| Gpld1 |
C |
A |
13: 25,159,709 (GRCm39) |
L426M |
probably damaging |
Het |
| Ighmbp2 |
G |
A |
19: 3,324,467 (GRCm39) |
P234S |
unknown |
Het |
| Itga6 |
G |
A |
2: 71,652,787 (GRCm39) |
V217I |
probably benign |
Het |
| Kdm7a |
A |
T |
6: 39,121,338 (GRCm39) |
N872K |
probably benign |
Het |
| Klhl14 |
G |
T |
18: 21,691,191 (GRCm39) |
Y446* |
probably null |
Het |
| Larp4b |
T |
A |
13: 9,220,679 (GRCm39) |
|
probably null |
Het |
| Lct |
A |
T |
1: 128,226,430 (GRCm39) |
W1320R |
probably benign |
Het |
| Lrp2 |
T |
C |
2: 69,326,782 (GRCm39) |
D1763G |
possibly damaging |
Het |
| Lrrk2 |
A |
T |
15: 91,699,649 (GRCm39) |
N2499Y |
probably damaging |
Het |
| Lsg1 |
T |
C |
16: 30,400,003 (GRCm39) |
|
probably null |
Het |
| Mettl15 |
T |
C |
2: 108,967,723 (GRCm39) |
K188E |
probably damaging |
Het |
| Mfsd4b1 |
A |
G |
10: 39,879,274 (GRCm39) |
S208P |
probably damaging |
Het |
| Mlxipl |
T |
C |
5: 135,164,235 (GRCm39) |
S793P |
possibly damaging |
Het |
| Ms4a14 |
G |
A |
19: 11,280,150 (GRCm39) |
Q803* |
probably null |
Het |
| Mtor |
A |
C |
4: 148,623,195 (GRCm39) |
E2015A |
possibly damaging |
Het |
| Myo15b |
A |
T |
11: 115,778,749 (GRCm39) |
Y2581F |
unknown |
Het |
| Myo7b |
A |
T |
18: 32,147,257 (GRCm39) |
Y95* |
probably null |
Het |
| Nf1 |
A |
G |
11: 79,436,314 (GRCm39) |
I1985V |
probably benign |
Het |
| Noxred1 |
G |
A |
12: 87,268,136 (GRCm39) |
Q332* |
probably null |
Het |
| Nudt21 |
A |
T |
8: 94,749,461 (GRCm39) |
Y202N |
probably damaging |
Het |
| Odad2 |
A |
G |
18: 7,217,890 (GRCm39) |
L608P |
probably damaging |
Het |
| Or1j16 |
A |
T |
2: 36,530,632 (GRCm39) |
I194F |
probably benign |
Het |
| Pik3c2a |
A |
T |
7: 115,955,488 (GRCm39) |
S1176T |
probably damaging |
Het |
| Pramel14 |
A |
C |
4: 143,718,526 (GRCm39) |
S306A |
possibly damaging |
Het |
| Qrich2 |
GCTGCACCTGGTTGCAACACACCAGGCTGAACTGCACCTGGTTGCAACACACCAGGCTGAACTGCACCTGGTTGCAACACACCAGGCTGAACTGCACCTGGTTG |
GCTGCACCTGGTTGCAACACACCAGGCTGAACTGCACCTGGTTGCAACACACCAGGCTGAACTGCACCTGGTTG |
11: 116,348,367 (GRCm39) |
|
probably benign |
Het |
| Rbmxl1 |
A |
G |
8: 79,232,252 (GRCm39) |
S364P |
unknown |
Het |
| Rnf24 |
T |
A |
2: 131,145,416 (GRCm39) |
K131N |
probably benign |
Het |
| Scai |
T |
A |
2: 39,013,034 (GRCm39) |
Q132L |
probably damaging |
Het |
| Sh3tc1 |
T |
C |
5: 35,881,297 (GRCm39) |
R49G |
probably benign |
Het |
| Slc12a7 |
A |
G |
13: 73,936,796 (GRCm39) |
E152G |
probably benign |
Het |
| Slc22a27 |
A |
T |
19: 7,874,127 (GRCm39) |
M316K |
probably damaging |
Het |
| Spag1 |
G |
T |
15: 36,210,856 (GRCm39) |
A427S |
probably benign |
Het |
| Speer4a3 |
AACT |
A |
5: 26,155,849 (GRCm39) |
|
probably benign |
Het |
| Sry |
GCTGCTGGTGGTGGTCATGGAACTGCTGCTTCTGCTGGTGGTGGTCATGGAACTGCTGCTTCTGCTGGTGGTGGTCATGGAACTGCTGCTTCTGCTG |
GCTGCTGGTGGTGGTCATGGAACTGCTGCTTCTGCTGGTGGTGGTCATGGAACTGCTGCTTCTGCTG |
Y: 2,662,638 (GRCm39) |
|
probably benign |
Het |
| Stk16 |
G |
T |
1: 75,187,995 (GRCm39) |
C8F |
probably damaging |
Het |
| Syne2 |
T |
C |
12: 75,989,622 (GRCm39) |
C1834R |
probably damaging |
Het |
| Tie1 |
C |
T |
4: 118,336,054 (GRCm39) |
|
probably null |
Het |
| Timp2 |
A |
G |
11: 118,194,721 (GRCm39) |
I156T |
probably damaging |
Het |
| Tmem163 |
A |
G |
1: 127,419,347 (GRCm39) |
M286T |
possibly damaging |
Het |
| Tmx4 |
T |
A |
2: 134,481,588 (GRCm39) |
M112L |
probably benign |
Het |
| Trank1 |
G |
T |
9: 111,195,080 (GRCm39) |
E1035* |
probably null |
Het |
| Trim5 |
C |
T |
7: 103,928,771 (GRCm39) |
V57M |
probably damaging |
Het |
| Ubr3 |
A |
G |
2: 69,821,910 (GRCm39) |
S1391G |
probably benign |
Het |
| Vmn1r72 |
A |
T |
7: 11,403,634 (GRCm39) |
S271R |
probably damaging |
Het |
| Xpo5 |
G |
A |
17: 46,547,016 (GRCm39) |
|
probably null |
Het |
| Zfp592 |
A |
T |
7: 80,674,941 (GRCm39) |
H635L |
probably damaging |
Het |
| Zfp791 |
A |
T |
8: 85,838,844 (GRCm39) |
N62K |
probably benign |
Het |
| Zfp998 |
A |
G |
13: 66,581,738 (GRCm39) |
|
probably null |
Het |
| Zmynd11 |
G |
A |
13: 9,745,175 (GRCm39) |
T248M |
probably damaging |
Het |
|
| Other mutations in Ephb1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01671:Ephb1
|
APN |
9 |
101,873,986 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01910:Ephb1
|
APN |
9 |
101,879,056 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL02006:Ephb1
|
APN |
9 |
102,071,971 (GRCm39) |
critical splice donor site |
probably null |
|
|
IGL02660:Ephb1
|
APN |
9 |
101,918,291 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
IGL02685:Ephb1
|
APN |
9 |
101,918,302 (GRCm39) |
nonsense |
probably null |
|
|
IGL02802:Ephb1
|
UTSW |
9 |
101,887,218 (GRCm39) |
missense |
possibly damaging |
0.87 |
|
R0098:Ephb1
|
UTSW |
9 |
101,918,339 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R0098:Ephb1
|
UTSW |
9 |
101,918,339 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R0180:Ephb1
|
UTSW |
9 |
101,804,703 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R0488:Ephb1
|
UTSW |
9 |
101,841,207 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0511:Ephb1
|
UTSW |
9 |
101,873,179 (GRCm39) |
splice site |
probably benign |
|
|
R0601:Ephb1
|
UTSW |
9 |
102,072,329 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1622:Ephb1
|
UTSW |
9 |
101,878,910 (GRCm39) |
missense |
probably benign |
0.00 |
|
R1643:Ephb1
|
UTSW |
9 |
101,874,024 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R1645:Ephb1
|
UTSW |
9 |
101,804,758 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1914:Ephb1
|
UTSW |
9 |
101,806,577 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1964:Ephb1
|
UTSW |
9 |
101,848,322 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
R2245:Ephb1
|
UTSW |
9 |
101,873,973 (GRCm39) |
splice site |
probably benign |
|
|
R2247:Ephb1
|
UTSW |
9 |
101,874,010 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R2412:Ephb1
|
UTSW |
9 |
101,879,015 (GRCm39) |
missense |
possibly damaging |
0.85 |
|
R3716:Ephb1
|
UTSW |
9 |
102,071,999 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3756:Ephb1
|
UTSW |
9 |
101,918,238 (GRCm39) |
missense |
probably benign |
0.01 |
|
R3797:Ephb1
|
UTSW |
9 |
101,848,466 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3907:Ephb1
|
UTSW |
9 |
101,878,925 (GRCm39) |
missense |
probably benign |
0.00 |
|
R4981:Ephb1
|
UTSW |
9 |
101,918,159 (GRCm39) |
missense |
probably benign |
|
|
R5112:Ephb1
|
UTSW |
9 |
101,848,378 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5507:Ephb1
|
UTSW |
9 |
101,813,315 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5745:Ephb1
|
UTSW |
9 |
102,072,633 (GRCm39) |
missense |
probably benign |
0.25 |
|
R6082:Ephb1
|
UTSW |
9 |
101,848,303 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6183:Ephb1
|
UTSW |
9 |
102,072,524 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6228:Ephb1
|
UTSW |
9 |
101,800,783 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6572:Ephb1
|
UTSW |
9 |
101,944,097 (GRCm39) |
missense |
probably benign |
|
|
R6596:Ephb1
|
UTSW |
9 |
102,072,001 (GRCm39) |
nonsense |
probably null |
|
|
R6813:Ephb1
|
UTSW |
9 |
101,887,247 (GRCm39) |
missense |
possibly damaging |
0.87 |
|
R6876:Ephb1
|
UTSW |
9 |
101,861,319 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6922:Ephb1
|
UTSW |
9 |
101,806,463 (GRCm39) |
splice site |
probably null |
|
|
R6950:Ephb1
|
UTSW |
9 |
102,072,108 (GRCm39) |
missense |
probably benign |
0.03 |
|
R7144:Ephb1
|
UTSW |
9 |
101,841,276 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7146:Ephb1
|
UTSW |
9 |
101,841,157 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7328:Ephb1
|
UTSW |
9 |
102,072,438 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7644:Ephb1
|
UTSW |
9 |
101,813,393 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8109:Ephb1
|
UTSW |
9 |
101,918,222 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8161:Ephb1
|
UTSW |
9 |
102,072,012 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8486:Ephb1
|
UTSW |
9 |
101,841,164 (GRCm39) |
missense |
probably benign |
0.00 |
|
R8958:Ephb1
|
UTSW |
9 |
102,072,614 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9502:Ephb1
|
UTSW |
9 |
101,918,486 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9627:Ephb1
|
UTSW |
9 |
101,918,468 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R9715:Ephb1
|
UTSW |
9 |
101,848,384 (GRCm39) |
missense |
probably damaging |
1.00 |
|
X0064:Ephb1
|
UTSW |
9 |
101,848,471 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Z1088:Ephb1
|
UTSW |
9 |
101,861,344 (GRCm39) |
missense |
probably damaging |
0.99 |
|
Z1176:Ephb1
|
UTSW |
9 |
102,100,597 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- GTAAGCGTATCCACTGTGACC -3'
(R):5'- GTCCCTCCCAGAAATATCCTTGG -3'
Sequencing Primer
(F):5'- GTATCCACTGTGACCAAGGTC -3'
(R):5'- CCCAGAAATATCCTTGGTGCTGG -3'
|
| Posted On |
2019-11-26 |
Incidental Mutation