Incidental Mutation 'R9706:Ephb3'
| ID |
729825 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Ephb3
|
| Ensembl Gene |
ENSMUSG00000005958 |
| Gene Name |
Eph receptor B3 |
| Synonyms |
Cek10, Tyro6, Etk2, Sek4, MDK5, HEK2 |
| MMRRC Submission |
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.929)
|
| Stock # |
R9706 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
16 |
| Chromosomal Location |
21023530-21042054 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 21039193 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Phenylalanine
at position 604
(I604F)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000006112
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000006112]
[ENSMUST00000161063]
|
| AlphaFold |
P54754 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000006112
AA Change: I604F
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000006112
Gene: ENSMUSG00000005958
AA Change: I604F
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
6 |
26 |
N/A |
INTRINSIC |
|
EPH_lbd
|
31 |
204 |
6.47e-126 |
SMART |
|
Pfam:GCC2_GCC3
|
269 |
312 |
5.8e-9 |
PFAM |
|
FN3
|
332 |
430 |
8.43e-9 |
SMART |
|
FN3
|
448 |
527 |
2.72e-12 |
SMART |
|
Pfam:EphA2_TM
|
555 |
625 |
1e-24 |
PFAM |
|
TyrKc
|
628 |
887 |
1.35e-134 |
SMART |
|
SAM
|
917 |
984 |
3.88e-24 |
SMART |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000161063
AA Change: I350F
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.8%
- 20x: 99.3%
|
| 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 two 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. This gene encodes a receptor for ephrin-B family members. [provided by RefSeq, Mar 2010]
PHENOTYPE: Homozygotes for a targeted null mutation exhibit defects in corpus callosum formation and impaired Paneth cell downward migration in the intestinal epithelium, resulting in scattered positioning along crypt and villus. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 53 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adam20 |
G |
A |
8: 41,248,490 (GRCm39) |
R200H |
probably benign |
Het |
| Atad3a |
C |
T |
4: 155,834,929 (GRCm39) |
|
probably null |
Het |
| Atg16l1 |
T |
C |
1: 87,713,977 (GRCm39) |
F463L |
possibly damaging |
Het |
| Camsap3 |
C |
T |
8: 3,658,689 (GRCm39) |
T1209I |
possibly damaging |
Het |
| Cldn10 |
T |
A |
14: 119,099,189 (GRCm39) |
M101K |
probably damaging |
Het |
| Crb2 |
G |
A |
2: 37,681,215 (GRCm39) |
G686D |
probably damaging |
Het |
| Creb3 |
T |
A |
4: 43,565,520 (GRCm39) |
L209* |
probably null |
Het |
| Crocc |
C |
A |
4: 140,746,046 (GRCm39) |
R1855L |
possibly damaging |
Het |
| Decr2 |
A |
T |
17: 26,302,869 (GRCm39) |
M169K |
probably benign |
Het |
| Defb22 |
T |
C |
2: 152,327,820 (GRCm39) |
T122A |
unknown |
Het |
| Dnaaf6rt |
A |
C |
1: 31,262,252 (GRCm39) |
E78A |
possibly damaging |
Het |
| Dnah17 |
A |
T |
11: 118,017,026 (GRCm39) |
I238N |
probably damaging |
Het |
| Efcab14 |
T |
A |
4: 115,625,901 (GRCm39) |
S457T |
possibly damaging |
Het |
| Fam184a |
T |
C |
10: 53,575,249 (GRCm39) |
D120G |
probably damaging |
Het |
| Fcrlb |
T |
A |
1: 170,735,474 (GRCm39) |
T267S |
possibly damaging |
Het |
| Gm15446 |
A |
T |
5: 110,091,161 (GRCm39) |
Q471L |
probably damaging |
Het |
| H2-Q4 |
A |
T |
17: 35,599,129 (GRCm39) |
Y133F |
probably damaging |
Het |
| H2-T24 |
A |
T |
17: 36,325,735 (GRCm39) |
H285Q |
probably benign |
Het |
| Hc |
A |
C |
2: 34,914,196 (GRCm39) |
V837G |
probably damaging |
Het |
| Hmcn2 |
G |
A |
2: 31,305,279 (GRCm39) |
V3151I |
probably benign |
Het |
| Inpp5e |
T |
A |
2: 26,292,126 (GRCm39) |
M311L |
probably benign |
Het |
| Inpp5j |
A |
G |
11: 3,449,960 (GRCm39) |
F644S |
possibly damaging |
Het |
| Krt79 |
T |
G |
15: 101,839,196 (GRCm39) |
E424D |
probably benign |
Het |
| Lingo3 |
A |
T |
10: 80,670,288 (GRCm39) |
F547L |
probably damaging |
Het |
| Lrrc47 |
T |
G |
4: 154,096,487 (GRCm39) |
L94R |
probably damaging |
Het |
| Lrriq1 |
A |
G |
10: 102,881,902 (GRCm39) |
F155S |
|
Het |
| Masp2 |
A |
G |
4: 148,696,597 (GRCm39) |
E398G |
probably benign |
Het |
| Mcm3ap |
C |
T |
10: 76,312,352 (GRCm39) |
S477L |
probably damaging |
Het |
| Mllt10 |
T |
C |
2: 18,151,655 (GRCm39) |
V256A |
possibly damaging |
Het |
| Muc1 |
T |
A |
3: 89,138,888 (GRCm39) |
I499K |
probably benign |
Het |
| Nup50 |
G |
A |
15: 84,811,648 (GRCm39) |
|
probably null |
Het |
| Or13a21 |
A |
T |
7: 139,999,266 (GRCm39) |
I140N |
probably damaging |
Het |
| Or4p20 |
T |
A |
2: 88,253,779 (GRCm39) |
M197L |
probably benign |
Het |
| Or52e18 |
A |
G |
7: 104,609,195 (GRCm39) |
V248A |
probably damaging |
Het |
| Or5ar1 |
T |
A |
2: 85,671,658 (GRCm39) |
H159L |
probably damaging |
Het |
| Pclo |
A |
T |
5: 14,905,683 (GRCm39) |
H4971L |
unknown |
Het |
| Pcsk1 |
G |
T |
13: 75,247,473 (GRCm39) |
|
probably null |
Het |
| Pik3r5 |
C |
A |
11: 68,381,426 (GRCm39) |
T204N |
probably benign |
Het |
| Prrc2b |
T |
C |
2: 32,107,300 (GRCm39) |
V1621A |
probably benign |
Het |
| Ptchd4 |
A |
G |
17: 42,814,806 (GRCm39) |
*902W |
probably null |
Het |
| R3hdm2 |
A |
G |
10: 127,334,298 (GRCm39) |
D907G |
probably benign |
Het |
| R3hdm4 |
A |
T |
10: 79,752,655 (GRCm39) |
|
probably null |
Het |
| Rbpms2 |
C |
T |
9: 65,558,285 (GRCm39) |
A107V |
probably benign |
Het |
| Rgs14 |
G |
A |
13: 55,531,934 (GRCm39) |
E544K |
probably benign |
Het |
| Sacs |
C |
T |
14: 61,445,822 (GRCm39) |
Q2623* |
probably null |
Het |
| Sec16b |
G |
A |
1: 157,378,695 (GRCm39) |
|
probably null |
Het |
| Spire1 |
C |
T |
18: 67,636,508 (GRCm39) |
R386Q |
probably benign |
Het |
| Sqle |
A |
T |
15: 59,201,625 (GRCm39) |
Y492F |
probably damaging |
Het |
| Stk38l |
C |
T |
6: 146,677,104 (GRCm39) |
T427I |
probably benign |
Het |
| Tbx5 |
C |
A |
5: 119,979,909 (GRCm39) |
L152I |
probably benign |
Het |
| Vmn2r101 |
T |
C |
17: 19,809,925 (GRCm39) |
M237T |
probably damaging |
Het |
| Vmn2r58 |
A |
T |
7: 41,510,000 (GRCm39) |
F526I |
probably damaging |
Het |
| Vwf |
G |
A |
6: 125,601,536 (GRCm39) |
R826Q |
|
Het |
|
| Other mutations in Ephb3 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00476:Ephb3
|
APN |
16 |
21,039,165 (GRCm39) |
splice site |
probably null |
|
|
IGL00966:Ephb3
|
APN |
16 |
21,036,044 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL02166:Ephb3
|
APN |
16 |
21,039,499 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02245:Ephb3
|
APN |
16 |
21,040,174 (GRCm39) |
missense |
probably benign |
0.04 |
|
IGL02321:Ephb3
|
APN |
16 |
21,033,139 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02337:Ephb3
|
APN |
16 |
21,040,253 (GRCm39) |
splice site |
probably null |
|
|
IGL02507:Ephb3
|
APN |
16 |
21,039,389 (GRCm39) |
splice site |
probably benign |
|
|
IGL02755:Ephb3
|
APN |
16 |
21,040,448 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02806:Ephb3
|
APN |
16 |
21,041,031 (GRCm39) |
missense |
probably benign |
0.02 |
|
PIT4362001:Ephb3
|
UTSW |
16 |
21,039,607 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0026:Ephb3
|
UTSW |
16 |
21,033,667 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0194:Ephb3
|
UTSW |
16 |
21,036,859 (GRCm39) |
missense |
probably benign |
0.01 |
|
R0196:Ephb3
|
UTSW |
16 |
21,036,804 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0230:Ephb3
|
UTSW |
16 |
21,039,525 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0828:Ephb3
|
UTSW |
16 |
21,037,784 (GRCm39) |
unclassified |
probably benign |
|
|
R1126:Ephb3
|
UTSW |
16 |
21,041,226 (GRCm39) |
missense |
possibly damaging |
0.87 |
|
R1460:Ephb3
|
UTSW |
16 |
21,037,672 (GRCm39) |
missense |
probably benign |
|
|
R1592:Ephb3
|
UTSW |
16 |
21,040,450 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1632:Ephb3
|
UTSW |
16 |
21,031,687 (GRCm39) |
missense |
probably benign |
0.00 |
|
R1694:Ephb3
|
UTSW |
16 |
21,040,495 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1719:Ephb3
|
UTSW |
16 |
21,039,400 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1777:Ephb3
|
UTSW |
16 |
21,035,985 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R1928:Ephb3
|
UTSW |
16 |
21,041,045 (GRCm39) |
missense |
possibly damaging |
0.86 |
|
R1956:Ephb3
|
UTSW |
16 |
21,040,132 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2378:Ephb3
|
UTSW |
16 |
21,036,993 (GRCm39) |
missense |
probably benign |
|
|
R3408:Ephb3
|
UTSW |
16 |
21,038,254 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R4027:Ephb3
|
UTSW |
16 |
21,040,447 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4429:Ephb3
|
UTSW |
16 |
21,033,213 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4655:Ephb3
|
UTSW |
16 |
21,040,958 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R4826:Ephb3
|
UTSW |
16 |
21,033,745 (GRCm39) |
missense |
possibly damaging |
0.90 |
|
R4828:Ephb3
|
UTSW |
16 |
21,033,745 (GRCm39) |
missense |
possibly damaging |
0.90 |
|
R4960:Ephb3
|
UTSW |
16 |
21,039,245 (GRCm39) |
missense |
probably benign |
0.09 |
|
R5057:Ephb3
|
UTSW |
16 |
21,039,197 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5090:Ephb3
|
UTSW |
16 |
21,033,237 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5396:Ephb3
|
UTSW |
16 |
21,037,855 (GRCm39) |
missense |
possibly damaging |
0.91 |
|
R5540:Ephb3
|
UTSW |
16 |
21,039,610 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5628:Ephb3
|
UTSW |
16 |
21,036,869 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5666:Ephb3
|
UTSW |
16 |
21,041,241 (GRCm39) |
missense |
probably benign |
0.08 |
|
R5838:Ephb3
|
UTSW |
16 |
21,040,437 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5866:Ephb3
|
UTSW |
16 |
21,030,129 (GRCm39) |
intron |
probably benign |
|
|
R6017:Ephb3
|
UTSW |
16 |
21,040,781 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6020:Ephb3
|
UTSW |
16 |
21,040,763 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R6510:Ephb3
|
UTSW |
16 |
21,036,861 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R6539:Ephb3
|
UTSW |
16 |
21,040,218 (GRCm39) |
missense |
probably benign |
|
|
R6591:Ephb3
|
UTSW |
16 |
21,033,223 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6691:Ephb3
|
UTSW |
16 |
21,033,223 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7101:Ephb3
|
UTSW |
16 |
21,037,268 (GRCm39) |
missense |
possibly damaging |
0.86 |
|
R7111:Ephb3
|
UTSW |
16 |
21,037,577 (GRCm39) |
nonsense |
probably null |
|
|
R7236:Ephb3
|
UTSW |
16 |
21,033,231 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7307:Ephb3
|
UTSW |
16 |
21,040,976 (GRCm39) |
missense |
probably benign |
0.04 |
|
R7410:Ephb3
|
UTSW |
16 |
21,040,158 (GRCm39) |
missense |
possibly damaging |
0.75 |
|
R7413:Ephb3
|
UTSW |
16 |
21,033,457 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7452:Ephb3
|
UTSW |
16 |
21,036,107 (GRCm39) |
splice site |
probably null |
|
|
R7944:Ephb3
|
UTSW |
16 |
21,040,434 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7945:Ephb3
|
UTSW |
16 |
21,040,434 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9092:Ephb3
|
UTSW |
16 |
21,041,214 (GRCm39) |
missense |
probably benign |
0.01 |
|
R9504:Ephb3
|
UTSW |
16 |
21,036,830 (GRCm39) |
missense |
possibly damaging |
0.48 |
|
Z1176:Ephb3
|
UTSW |
16 |
21,036,786 (GRCm39) |
missense |
possibly damaging |
0.53 |
|
| Predicted Primers |
PCR Primer
(F):5'- CGTCTAGCTCATGTGGTTCC -3'
(R):5'- TTGATAGCCACGAACACCTC -3'
Sequencing Primer
(F):5'- ATGTGGTTCCCCGGCATTC -3'
(R):5'- ACAGGTCACACGGCGTTG -3'
|
| Posted On |
2022-10-06 |
Incidental Mutation