Incidental Mutation 'R8958:Ephb1'
| ID |
682170 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Ephb1
|
| Ensembl Gene |
ENSMUSG00000032537 |
| Gene Name |
Eph receptor B1 |
| Synonyms |
Net, C130099E04Rik, Cek6, Hek6, Elkh, Elk |
| MMRRC Submission |
068794-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R8958 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
9 |
| Chromosomal Location |
101799327-102231892 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 102072614 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Threonine
at position 55
(I55T)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000139470
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000035129]
[ENSMUST00000085169]
[ENSMUST00000149800]
|
| AlphaFold |
Q8CBF3 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000035129
AA Change: I55T
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000035129
Gene: ENSMUSG00000032537
AA Change: I55T
| 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 damaging
Transcript: ENSMUST00000085169
AA Change: I55T
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000082261
Gene: ENSMUSG00000032537
AA Change: I55T
| 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 damaging
Transcript: ENSMUST00000149800
AA Change: I55T
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000139470
Gene: ENSMUSG00000032537
AA Change: I55T
| 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: 99.4%
- 20x: 97.8%
|
| 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: 60 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adam17 |
A |
T |
12: 21,399,934 (GRCm39) |
N157K |
possibly damaging |
Het |
| Adck2 |
T |
C |
6: 39,560,848 (GRCm39) |
V412A |
probably benign |
Het |
| Adgrb3 |
C |
T |
1: 25,865,190 (GRCm39) |
V11I |
possibly damaging |
Het |
| Arhgef17 |
T |
C |
7: 100,579,019 (GRCm39) |
D643G |
probably damaging |
Het |
| Arvcf |
A |
G |
16: 18,221,376 (GRCm39) |
Q597R |
probably damaging |
Het |
| Brdt |
T |
C |
5: 107,525,877 (GRCm39) |
V910A |
probably benign |
Het |
| Cachd1 |
A |
G |
4: 100,851,283 (GRCm39) |
D1167G |
probably benign |
Het |
| Ccdc187 |
A |
C |
2: 26,165,577 (GRCm39) |
S860A |
probably benign |
Het |
| Ccdc28a |
T |
C |
10: 18,089,926 (GRCm39) |
I113M |
probably benign |
Het |
| Cdc5l |
T |
C |
17: 45,704,127 (GRCm39) |
N699S |
probably benign |
Het |
| Cenpf |
A |
T |
1: 189,385,350 (GRCm39) |
I2310K |
possibly damaging |
Het |
| Ch25h |
A |
T |
19: 34,452,414 (GRCm39) |
I38N |
probably benign |
Het |
| Chrdl2 |
C |
A |
7: 99,670,129 (GRCm39) |
P84Q |
probably damaging |
Het |
| Cltc |
A |
T |
11: 86,586,403 (GRCm39) |
Y1673N |
possibly damaging |
Het |
| Cr1l |
C |
G |
1: 194,812,243 (GRCm39) |
G27R |
probably damaging |
Het |
| Crebbp |
G |
A |
16: 4,031,172 (GRCm39) |
|
probably benign |
Het |
| Dync1h1 |
G |
A |
12: 110,586,805 (GRCm39) |
E929K |
probably benign |
Het |
| E2f7 |
C |
A |
10: 110,601,615 (GRCm39) |
P324Q |
probably damaging |
Het |
| Eif3b |
A |
G |
5: 140,411,194 (GRCm39) |
D215G |
probably benign |
Het |
| Fbxw14 |
A |
T |
9: 109,107,810 (GRCm39) |
L188Q |
probably damaging |
Het |
| Foxg1 |
T |
C |
12: 49,431,944 (GRCm39) |
S226P |
probably damaging |
Het |
| Gbe1 |
T |
C |
16: 70,275,210 (GRCm39) |
F337L |
probably damaging |
Het |
| Glg1 |
A |
T |
8: 111,899,116 (GRCm39) |
C716* |
probably null |
Het |
| Gp1ba |
C |
G |
11: 70,531,730 (GRCm39) |
|
probably benign |
Het |
| Grm7 |
C |
T |
6: 111,472,783 (GRCm39) |
S36L |
probably damaging |
Het |
| H2-M5 |
T |
A |
17: 37,299,520 (GRCm39) |
I167F |
probably damaging |
Het |
| H3c6 |
T |
C |
13: 23,746,421 (GRCm39) |
H40R |
possibly damaging |
Het |
| Hycc1 |
A |
G |
5: 24,169,934 (GRCm39) |
C472R |
probably benign |
Het |
| Il18rap |
C |
T |
1: 40,582,177 (GRCm39) |
T366M |
probably benign |
Het |
| Ino80 |
C |
T |
2: 119,213,862 (GRCm39) |
R1236H |
probably damaging |
Het |
| Ism1 |
T |
A |
2: 139,573,995 (GRCm39) |
I115N |
possibly damaging |
Het |
| Kdm4a |
A |
G |
4: 117,999,573 (GRCm39) |
S950P |
probably benign |
Het |
| Lama5 |
T |
C |
2: 179,835,592 (GRCm39) |
T1254A |
probably benign |
Het |
| Lipo2 |
T |
A |
19: 33,698,361 (GRCm39) |
K339* |
probably null |
Het |
| Lrrc7 |
T |
C |
3: 157,946,138 (GRCm39) |
K187R |
probably benign |
Het |
| Mkrn2os |
G |
C |
6: 115,562,317 (GRCm39) |
S215R |
probably benign |
Het |
| Myzap |
G |
T |
9: 71,457,485 (GRCm39) |
D303E |
possibly damaging |
Het |
| Naa11 |
T |
C |
5: 97,540,084 (GRCm39) |
N25D |
probably damaging |
Het |
| Naip5 |
T |
A |
13: 100,354,117 (GRCm39) |
K1149* |
probably null |
Het |
| Obscn |
C |
T |
11: 58,964,158 (GRCm39) |
V3083M |
probably damaging |
Het |
| Or10d1 |
T |
C |
9: 39,484,091 (GRCm39) |
T155A |
probably benign |
Het |
| Or4k48 |
T |
C |
2: 111,476,070 (GRCm39) |
T91A |
possibly damaging |
Het |
| Parn |
T |
A |
16: 13,466,322 (GRCm39) |
E241D |
possibly damaging |
Het |
| Pax1 |
T |
A |
2: 147,210,517 (GRCm39) |
|
probably null |
Het |
| Pclo |
A |
T |
5: 14,725,369 (GRCm39) |
E1409V |
unknown |
Het |
| Pclo |
A |
G |
5: 14,763,056 (GRCm39) |
Y3843C |
unknown |
Het |
| Ppp2r3d |
A |
T |
9: 101,088,634 (GRCm39) |
M563K |
probably benign |
Het |
| Prdm1 |
T |
G |
10: 44,316,729 (GRCm39) |
K623Q |
probably damaging |
Het |
| Ptpn13 |
T |
C |
5: 103,698,973 (GRCm39) |
V1152A |
probably benign |
Het |
| Ptx3 |
G |
A |
3: 66,128,391 (GRCm39) |
A151T |
probably benign |
Het |
| Rab11fip1 |
T |
C |
8: 27,644,940 (GRCm39) |
S282G |
possibly damaging |
Het |
| Ros1 |
G |
T |
10: 51,972,190 (GRCm39) |
N1641K |
probably damaging |
Het |
| Syne1 |
T |
C |
10: 5,181,768 (GRCm39) |
K4189R |
probably benign |
Het |
| Tcf3 |
T |
C |
10: 80,246,091 (GRCm39) |
K611E |
probably damaging |
Het |
| Tmem215 |
A |
G |
4: 40,474,376 (GRCm39) |
Q151R |
probably benign |
Het |
| Trappc8 |
T |
C |
18: 21,003,667 (GRCm39) |
I254V |
probably benign |
Het |
| Trim46 |
T |
C |
3: 89,143,760 (GRCm39) |
D556G |
probably damaging |
Het |
| Wdr97 |
A |
T |
15: 76,245,694 (GRCm39) |
E1310D |
|
Het |
| Zfp513 |
C |
A |
5: 31,356,825 (GRCm39) |
R487L |
probably damaging |
Het |
| Zmpste24 |
C |
A |
4: 120,944,508 (GRCm39) |
E97* |
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 |
|
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'- TGACTTCTTGGTGGCAATCAC -3'
(R):5'- CGAGCTCATTTGCTAAGTGGG -3'
Sequencing Primer
(F):5'- GTGGCAATCACAGAGTCAGTCTC -3'
(R):5'- CTCATTTGCTAAGTGGGAGCGTG -3'
|
| Posted On |
2021-08-31 |
Incidental Mutation