Incidental Mutation 'R6572:Ephb1'
| ID |
526283 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Ephb1
|
| Ensembl Gene |
ENSMUSG00000032537 |
| Gene Name |
Eph receptor B1 |
| Synonyms |
Net, C130099E04Rik, Cek6, Hek6, Elkh, Elk |
| MMRRC Submission |
044696-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R6572 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
9 |
| Chromosomal Location |
101799327-102231892 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 101944097 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Phenylalanine to Leucine
at position 312
(F312L)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000139470
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000035129]
[ENSMUST00000085169]
[ENSMUST00000149800]
|
| AlphaFold |
Q8CBF3 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000035129
AA Change: F312L
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000035129
Gene: ENSMUSG00000032537
AA Change: F312L
| 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
AA Change: F312L
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000082261
Gene: ENSMUSG00000032537
AA Change: F312L
| 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: F312L
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000139470
Gene: ENSMUSG00000032537
AA Change: F312L
| 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 |
|
| Meta Mutation Damage Score |
0.0592 |
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.4%
- 20x: 98.2%
|
| Validation Efficiency |
97% (62/64) |
| 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: 61 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4930447A16Rik |
C |
T |
15: 37,425,961 (GRCm39) |
Q34* |
probably null |
Het |
| Adamts3 |
T |
A |
5: 90,009,468 (GRCm39) |
H65L |
possibly damaging |
Het |
| Ago2 |
A |
G |
15: 72,998,826 (GRCm39) |
V257A |
probably benign |
Het |
| Ahnak |
A |
G |
19: 8,985,340 (GRCm39) |
K2208R |
probably damaging |
Het |
| Apc2 |
C |
T |
10: 80,147,613 (GRCm39) |
S860L |
probably damaging |
Het |
| Arhgap18 |
A |
G |
10: 26,722,412 (GRCm39) |
|
probably null |
Het |
| Arhgap33 |
T |
C |
7: 30,226,635 (GRCm39) |
E524G |
probably damaging |
Het |
| Ascc3 |
C |
T |
10: 50,566,343 (GRCm39) |
Q763* |
probably null |
Het |
| Atg2a |
T |
C |
19: 6,304,695 (GRCm39) |
L1184P |
probably damaging |
Het |
| Baiap2l1 |
A |
G |
5: 144,223,112 (GRCm39) |
L75P |
probably damaging |
Het |
| Btbd17 |
A |
T |
11: 114,683,046 (GRCm39) |
L222Q |
probably damaging |
Het |
| Chst13 |
G |
T |
6: 90,286,588 (GRCm39) |
R125S |
probably benign |
Het |
| Cpsf1 |
CCCCTGCATGAGGCAGGTCCC |
CCCC |
15: 76,481,655 (GRCm39) |
|
probably null |
Het |
| Cracr2a |
T |
C |
6: 127,585,715 (GRCm39) |
|
probably null |
Het |
| Dchs1 |
T |
A |
7: 105,408,013 (GRCm39) |
T1940S |
possibly damaging |
Het |
| Ddit4l |
G |
T |
3: 137,332,111 (GRCm39) |
R159L |
probably benign |
Het |
| Dock3 |
A |
G |
9: 106,866,674 (GRCm39) |
Y679H |
probably damaging |
Het |
| Dyrk4 |
T |
G |
6: 126,874,201 (GRCm39) |
I130L |
probably benign |
Het |
| Eml2 |
T |
C |
7: 18,930,539 (GRCm39) |
V373A |
possibly damaging |
Het |
| Entrep1 |
A |
T |
19: 23,962,082 (GRCm39) |
M307K |
possibly damaging |
Het |
| Fndc9 |
A |
T |
11: 46,128,708 (GRCm39) |
I76F |
probably damaging |
Het |
| Frk |
G |
A |
10: 34,459,963 (GRCm39) |
R186K |
probably benign |
Het |
| Gpatch3 |
G |
T |
4: 133,302,191 (GRCm39) |
G41C |
probably damaging |
Het |
| Greb1l |
T |
A |
18: 10,522,131 (GRCm39) |
H633Q |
probably benign |
Het |
| Gstt4 |
T |
A |
10: 75,650,954 (GRCm39) |
T223S |
probably damaging |
Het |
| Hpd |
C |
T |
5: 123,318,739 (GRCm39) |
E60K |
probably benign |
Het |
| Inpp5d |
C |
T |
1: 87,623,118 (GRCm39) |
P403S |
probably damaging |
Het |
| Klk1b9 |
T |
A |
7: 43,629,159 (GRCm39) |
I189K |
probably benign |
Het |
| Kmt2e |
A |
T |
5: 23,702,579 (GRCm39) |
H239L |
possibly damaging |
Het |
| Lrriq3 |
A |
G |
3: 154,887,312 (GRCm39) |
D344G |
probably benign |
Het |
| Neb |
A |
G |
2: 52,168,859 (GRCm39) |
I1892T |
probably damaging |
Het |
| Neto2 |
A |
T |
8: 86,397,033 (GRCm39) |
I73N |
possibly damaging |
Het |
| Nipal3 |
A |
T |
4: 135,174,564 (GRCm39) |
S396T |
probably benign |
Het |
| Or1e35 |
A |
G |
11: 73,797,629 (GRCm39) |
S230P |
possibly damaging |
Het |
| Or51q1c |
T |
A |
7: 103,648,391 (GRCm39) |
|
probably null |
Het |
| Phf20l1 |
T |
A |
15: 66,481,396 (GRCm39) |
V264D |
probably damaging |
Het |
| Pigs |
A |
G |
11: 78,230,190 (GRCm39) |
Y319C |
probably damaging |
Het |
| Pkd2l2 |
T |
C |
18: 34,571,824 (GRCm39) |
Y608H |
probably damaging |
Het |
| Ppard |
G |
T |
17: 28,516,093 (GRCm39) |
E106* |
probably null |
Het |
| Pramel11 |
C |
T |
4: 143,621,943 (GRCm39) |
V471I |
possibly damaging |
Het |
| Pramel16 |
A |
G |
4: 143,676,262 (GRCm39) |
S281P |
probably benign |
Het |
| Psenen |
T |
C |
7: 30,261,773 (GRCm39) |
T48A |
probably benign |
Het |
| Ralgps2 |
A |
T |
1: 156,651,620 (GRCm39) |
|
probably null |
Het |
| Ripk4 |
T |
A |
16: 97,547,105 (GRCm39) |
R323* |
probably null |
Het |
| Rsf1 |
CG |
CGACGGCGGTG |
7: 97,229,115 (GRCm39) |
|
probably benign |
Het |
| Scgb2b24 |
T |
A |
7: 33,437,902 (GRCm39) |
E68D |
probably damaging |
Het |
| Setx |
A |
G |
2: 29,063,706 (GRCm39) |
D2334G |
possibly damaging |
Het |
| Sh3bp4 |
A |
G |
1: 89,072,643 (GRCm39) |
D497G |
possibly damaging |
Het |
| Smarca2 |
A |
T |
19: 26,656,573 (GRCm39) |
I850F |
possibly damaging |
Het |
| Smyd1 |
A |
G |
6: 71,202,396 (GRCm39) |
Y270H |
probably damaging |
Het |
| Spidr |
T |
A |
16: 15,730,380 (GRCm39) |
|
probably null |
Het |
| Srms |
T |
C |
2: 180,854,450 (GRCm39) |
D39G |
probably benign |
Het |
| Trpc2 |
T |
A |
7: 101,739,213 (GRCm39) |
I528N |
probably damaging |
Het |
| Tshr |
A |
G |
12: 91,505,134 (GRCm39) |
I691V |
probably benign |
Het |
| Urb1 |
A |
C |
16: 90,584,302 (GRCm39) |
V560G |
probably benign |
Het |
| Usp37 |
A |
G |
1: 74,534,941 (GRCm39) |
S2P |
possibly damaging |
Het |
| Vmn1r60 |
G |
A |
7: 5,547,599 (GRCm39) |
S167F |
probably benign |
Het |
| Vmn2r89 |
G |
A |
14: 51,693,450 (GRCm39) |
V267I |
probably damaging |
Het |
| Washc3 |
T |
A |
10: 88,049,568 (GRCm39) |
D63E |
probably benign |
Het |
| Wdr89 |
A |
G |
12: 75,680,159 (GRCm39) |
S32P |
probably damaging |
Het |
| Zfp157 |
T |
C |
5: 138,455,313 (GRCm39) |
S504P |
possibly 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 |
|
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 |
|
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'- GAGACCTCTCTTTCAGCACC -3'
(R):5'- ATCTTGGTGTGAGCGGGAAC -3'
Sequencing Primer
(F):5'- TTTCAGCACCACGGCCAG -3'
(R):5'- GGGAACTCAGCCTCCTTTG -3'
|
| Posted On |
2018-06-22 |
Incidental Mutation