Incidental Mutation 'R9627:Ephb1'
| ID |
725225 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Ephb1
|
| Ensembl Gene |
ENSMUSG00000032537 |
| Gene Name |
Eph receptor B1 |
| Synonyms |
Net, C130099E04Rik, Cek6, Hek6, Elkh, Elk |
| MMRRC Submission |
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R9627 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
9 |
| Chromosomal Location |
101799327-102231892 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 101918468 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamic Acid to Glycine
at position 347
(E347G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000035129
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000035129]
[ENSMUST00000085169]
[ENSMUST00000149800]
|
| AlphaFold |
Q8CBF3 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000035129
AA Change: E347G
PolyPhen 2
Score 0.945 (Sensitivity: 0.80; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000035129
Gene: ENSMUSG00000032537
AA Change: E347G
| 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 |
possibly damaging
Transcript: ENSMUST00000085169
AA Change: E347G
PolyPhen 2
Score 0.616 (Sensitivity: 0.87; Specificity: 0.91)
|
| SMART Domains |
Protein: ENSMUSP00000082261
Gene: ENSMUSG00000032537
AA Change: E347G
| 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 |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000149800
AA Change: E347G
PolyPhen 2
Score 0.239 (Sensitivity: 0.91; Specificity: 0.88)
|
| SMART Domains |
Protein: ENSMUSP00000139470
Gene: ENSMUSG00000032537
AA Change: E347G
| 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 |
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.6%
- 20x: 98.9%
|
| Validation Efficiency |
|
| 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: 62 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4932414N04Rik |
A |
T |
2: 68,487,834 (GRCm39) |
|
probably benign |
Het |
| Abca14 |
T |
C |
7: 119,854,530 (GRCm39) |
V898A |
probably benign |
Het |
| Adamtsl1 |
A |
T |
4: 86,306,762 (GRCm39) |
D1400V |
possibly damaging |
Het |
| Akap6 |
T |
A |
12: 53,151,413 (GRCm39) |
M1159K |
|
Het |
| Atg13 |
C |
A |
2: 91,509,098 (GRCm39) |
G446* |
probably null |
Het |
| Atp6v1g2 |
G |
T |
17: 35,454,956 (GRCm39) |
|
probably null |
Het |
| Bmp2k |
C |
T |
5: 97,201,028 (GRCm39) |
A316V |
possibly damaging |
Het |
| Ccdc34 |
AAGA |
AA |
2: 109,871,010 (GRCm39) |
|
probably null |
Het |
| Cfap251 |
A |
G |
5: 123,460,557 (GRCm39) |
D1173G |
probably benign |
Het |
| Cln6 |
T |
A |
9: 62,754,303 (GRCm39) |
I115N |
probably damaging |
Het |
| Cma1 |
T |
C |
14: 56,181,289 (GRCm39) |
T39A |
probably benign |
Het |
| Cpsf1 |
A |
T |
15: 76,484,088 (GRCm39) |
M744K |
probably damaging |
Het |
| Csf1r |
A |
G |
18: 61,260,972 (GRCm39) |
Y721C |
probably damaging |
Het |
| Dcaf12 |
A |
G |
4: 41,293,976 (GRCm39) |
L387P |
probably benign |
Het |
| Fig4 |
T |
A |
10: 41,108,178 (GRCm39) |
H674L |
probably benign |
Het |
| Foxa3 |
T |
A |
7: 18,748,458 (GRCm39) |
K223* |
probably null |
Het |
| Gimap7 |
T |
C |
6: 48,700,600 (GRCm39) |
V62A |
probably damaging |
Het |
| Glrx3 |
T |
A |
7: 137,046,755 (GRCm39) |
V49E |
probably benign |
Het |
| Greb1 |
T |
C |
12: 16,756,167 (GRCm39) |
Y823C |
probably damaging |
Het |
| H3c7 |
G |
T |
13: 23,728,793 (GRCm39) |
V47L |
possibly damaging |
Het |
| Hapln4 |
C |
A |
8: 70,539,520 (GRCm39) |
R184S |
possibly damaging |
Het |
| Hmcn1 |
C |
T |
1: 150,506,054 (GRCm39) |
C3824Y |
probably damaging |
Het |
| Hrnr |
T |
C |
3: 93,233,235 (GRCm39) |
S1158P |
unknown |
Het |
| Itln1 |
A |
G |
1: 171,360,985 (GRCm39) |
S36P |
probably benign |
Het |
| Kcnh5 |
A |
C |
12: 75,160,990 (GRCm39) |
I306S |
probably damaging |
Het |
| Kctd19 |
T |
A |
8: 106,113,997 (GRCm39) |
M559L |
probably benign |
Het |
| Kif2a |
A |
G |
13: 107,158,558 (GRCm39) |
I9T |
possibly damaging |
Het |
| Klra5 |
G |
A |
6: 129,883,701 (GRCm39) |
T142I |
probably benign |
Het |
| Ldlrad3 |
A |
G |
2: 101,785,423 (GRCm39) |
V184A |
probably damaging |
Het |
| Lrrc27 |
T |
C |
7: 138,808,582 (GRCm39) |
|
probably benign |
Het |
| Mark1 |
A |
G |
1: 184,646,817 (GRCm39) |
V340A |
probably benign |
Het |
| Mrps31 |
T |
C |
8: 22,901,558 (GRCm39) |
V26A |
probably benign |
Het |
| Mtrr |
G |
A |
13: 68,725,756 (GRCm39) |
L118F |
probably damaging |
Het |
| Naip5 |
T |
A |
13: 100,356,338 (GRCm39) |
E1092D |
probably benign |
Het |
| Nbas |
G |
T |
12: 13,350,203 (GRCm39) |
V285F |
possibly damaging |
Het |
| Nfrkb |
T |
C |
9: 31,321,189 (GRCm39) |
L675P |
possibly damaging |
Het |
| Or10v9 |
T |
A |
19: 11,832,910 (GRCm39) |
I136F |
possibly damaging |
Het |
| Or1q1 |
T |
A |
2: 36,887,665 (GRCm39) |
V281E |
|
Het |
| Or5k15 |
T |
A |
16: 58,709,771 (GRCm39) |
I271L |
probably benign |
Het |
| Phkg1 |
C |
T |
5: 129,893,376 (GRCm39) |
W358* |
probably null |
Het |
| Plekhj1 |
A |
C |
10: 80,633,494 (GRCm39) |
I51S |
possibly damaging |
Het |
| Plxnd1 |
C |
T |
6: 115,940,274 (GRCm39) |
R1370Q |
possibly damaging |
Het |
| Prkg2 |
T |
C |
5: 99,079,869 (GRCm39) |
*763W |
probably null |
Het |
| Rhobtb2 |
A |
G |
14: 70,034,349 (GRCm39) |
F292S |
probably damaging |
Het |
| Rlf |
A |
T |
4: 121,007,002 (GRCm39) |
C769* |
probably null |
Het |
| Rmi1 |
C |
A |
13: 58,557,366 (GRCm39) |
D538E |
possibly damaging |
Het |
| Scn4a |
C |
T |
11: 106,212,839 (GRCm39) |
V1389I |
probably benign |
Het |
| Serpinc1 |
A |
T |
1: 160,821,101 (GRCm39) |
K183* |
probably null |
Het |
| Setd4 |
A |
T |
16: 93,380,562 (GRCm39) |
M399K |
possibly damaging |
Het |
| Setx |
T |
C |
2: 29,034,661 (GRCm39) |
M382T |
probably damaging |
Het |
| Slc6a9 |
A |
G |
4: 117,721,210 (GRCm39) |
Y208C |
probably damaging |
Het |
| Slfn2 |
A |
T |
11: 82,960,367 (GRCm39) |
K115N |
|
Het |
| Snrk |
A |
T |
9: 121,966,427 (GRCm39) |
K117* |
probably null |
Het |
| Spata31 |
A |
G |
13: 65,065,409 (GRCm39) |
Y38C |
possibly damaging |
Het |
| Stab2 |
T |
C |
10: 86,793,704 (GRCm39) |
T464A |
probably damaging |
Het |
| Tagap1 |
C |
T |
17: 7,224,327 (GRCm39) |
G123D |
probably benign |
Het |
| Tas2r136 |
T |
C |
6: 132,754,948 (GRCm39) |
K60E |
possibly damaging |
Het |
| Tasor |
T |
C |
14: 27,194,123 (GRCm39) |
S1108P |
probably benign |
Het |
| Tmem200b |
A |
C |
4: 131,649,437 (GRCm39) |
Y119S |
probably damaging |
Het |
| Usp48 |
G |
A |
4: 137,340,996 (GRCm39) |
G332E |
probably benign |
Het |
| Wwp2 |
T |
G |
8: 108,278,959 (GRCm39) |
L578W |
probably damaging |
Het |
| Zfp53 |
T |
A |
17: 21,728,745 (GRCm39) |
C259* |
probably null |
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 |
|
R7737:Ephb1
|
UTSW |
9 |
101,861,302 (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 |
|
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'- TTGATGGCCTGGATATCAAAGGTG -3'
(R):5'- GAACATGGAGCATTGGCCTTG -3'
Sequencing Primer
(F):5'- CCTGGATATCAAAGGTGTACGG -3'
(R):5'- GCATTGGCCTTGAGGAACAC -3'
|
| Posted On |
2022-09-12 |
Incidental Mutation