Incidental Mutation 'R4111:Epha1'
ID 317301
Institutional Source Beutler Lab
Gene Symbol Epha1
Ensembl Gene ENSMUSG00000029859
Gene Name Eph receptor A1
Synonyms Esk, 5730453L17Rik, Eph
Accession Numbers
Essential gene? Probably non essential (E-score: 0.142) question?
Stock # R4111 (G1)
Quality Score 225
Status Not validated
Chromosome 6
Chromosomal Location 42335421-42350202 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to A at 42335772 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Methionine at position 955 (T955M)
Ref Sequence ENSEMBL: ENSMUSP00000073099 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000070635] [ENSMUST00000073387] [ENSMUST00000164375] [ENSMUST00000203401] [ENSMUST00000203652] [ENSMUST00000204357]
AlphaFold Q60750
PDB Structure The solution structure of the second fibronectin type III domain of mouse Ephrin type-A receptor 1 [SOLUTION NMR]
Predicted Effect probably benign
Transcript: ENSMUST00000070635
SMART Domains Protein: ENSMUSP00000070427
Gene: ENSMUSG00000029860

DomainStartEndE-ValueType
low complexity region 2 18 N/A INTRINSIC
low complexity region 21 36 N/A INTRINSIC
low complexity region 61 84 N/A INTRINSIC
low complexity region 92 131 N/A INTRINSIC
low complexity region 144 158 N/A INTRINSIC
low complexity region 174 186 N/A INTRINSIC
low complexity region 199 220 N/A INTRINSIC
low complexity region 250 266 N/A INTRINSIC
low complexity region 269 283 N/A INTRINSIC
low complexity region 323 333 N/A INTRINSIC
low complexity region 343 363 N/A INTRINSIC
LIM 375 428 2.4e-17 SMART
LIM 435 487 7.39e-18 SMART
LIM 495 557 9.31e-15 SMART
Predicted Effect possibly damaging
Transcript: ENSMUST00000073387
AA Change: T955M

PolyPhen 2 Score 0.875 (Sensitivity: 0.83; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000073099
Gene: ENSMUSG00000029859
AA Change: T955M

DomainStartEndE-ValueType
signal peptide 1 26 N/A INTRINSIC
EPH_lbd 28 205 3.23e-103 SMART
FN3 334 430 8.43e-9 SMART
FN3 448 526 1.59e-4 SMART
Pfam:EphA2_TM 549 622 3.4e-13 PFAM
TyrKc 625 881 2.57e-126 SMART
SAM 911 977 4.13e-19 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000164375
SMART Domains Protein: ENSMUSP00000126622
Gene: ENSMUSG00000029860

DomainStartEndE-ValueType
low complexity region 2 18 N/A INTRINSIC
low complexity region 21 36 N/A INTRINSIC
low complexity region 61 84 N/A INTRINSIC
low complexity region 92 131 N/A INTRINSIC
low complexity region 144 158 N/A INTRINSIC
low complexity region 174 186 N/A INTRINSIC
low complexity region 199 220 N/A INTRINSIC
low complexity region 250 266 N/A INTRINSIC
low complexity region 269 283 N/A INTRINSIC
low complexity region 323 333 N/A INTRINSIC
low complexity region 343 363 N/A INTRINSIC
LIM 375 428 2.4e-17 SMART
LIM 435 487 7.39e-18 SMART
LIM 495 557 9.31e-15 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000203290
Predicted Effect probably benign
Transcript: ENSMUST00000203401
SMART Domains Protein: ENSMUSP00000145236
Gene: ENSMUSG00000029860

DomainStartEndE-ValueType
low complexity region 2 18 N/A INTRINSIC
low complexity region 21 36 N/A INTRINSIC
low complexity region 61 84 N/A INTRINSIC
low complexity region 92 131 N/A INTRINSIC
low complexity region 143 155 N/A INTRINSIC
low complexity region 168 189 N/A INTRINSIC
low complexity region 219 235 N/A INTRINSIC
low complexity region 238 252 N/A INTRINSIC
low complexity region 292 302 N/A INTRINSIC
low complexity region 312 332 N/A INTRINSIC
LIM 344 397 2.4e-17 SMART
LIM 404 456 7.39e-18 SMART
LIM 464 526 9.31e-15 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000203652
SMART Domains Protein: ENSMUSP00000145451
Gene: ENSMUSG00000029860

DomainStartEndE-ValueType
low complexity region 2 18 N/A INTRINSIC
low complexity region 21 36 N/A INTRINSIC
low complexity region 61 84 N/A INTRINSIC
low complexity region 92 131 N/A INTRINSIC
low complexity region 144 158 N/A INTRINSIC
low complexity region 174 186 N/A INTRINSIC
low complexity region 199 220 N/A INTRINSIC
low complexity region 250 266 N/A INTRINSIC
low complexity region 269 283 N/A INTRINSIC
low complexity region 323 333 N/A INTRINSIC
low complexity region 343 363 N/A INTRINSIC
LIM 375 428 2.4e-17 SMART
LIM 435 487 7.39e-18 SMART
LIM 495 557 9.31e-15 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000204357
AA Change: T923M

PolyPhen 2 Score 0.045 (Sensitivity: 0.94; Specificity: 0.83)
SMART Domains Protein: ENSMUSP00000144763
Gene: ENSMUSG00000029859
AA Change: T923M

DomainStartEndE-ValueType
signal peptide 1 26 N/A INTRINSIC
EPH_lbd 28 205 1.1e-105 SMART
FN3 334 430 4.2e-11 SMART
low complexity region 459 473 N/A INTRINSIC
FN3 483 563 2.4e-8 SMART
Pfam:EphA2_TM 586 659 7.6e-11 PFAM
STYKc 662 849 1.1e-65 SMART
SAM 879 945 2.5e-21 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000204480
Predicted Effect noncoding transcript
Transcript: ENSMUST00000204270
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.5%
  • 20x: 96.0%
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene belongs to the ephrin receptor subfamily of the protein-tyrosine kinase family. EPH and EPH-related receptors have been implicated in mediating developmental events, particularly in the nervous system. Receptors in the EPH subfamily typically have a single kinase domain and an extracellular region containing a Cys-rich domain and 2 fibronectin type III repeats. The ephrin 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. This gene is expressed in some human cancer cell lines and has been implicated in carcinogenesis. [provided by RefSeq, Jul 2008]
PHENOTYPE: Most mice homozygous for a null allele exhibit a kinked tail while 18% of mice exhibit vagina atresia with hydrometrocolops and infertility. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 54 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700012B07Rik G T 11: 109,684,980 (GRCm39) C172* probably null Het
Acot10 A T 15: 20,666,612 (GRCm39) L43Q probably damaging Het
Alms1 G A 6: 85,597,870 (GRCm39) V1368I probably benign Het
Ambra1 T C 2: 91,730,903 (GRCm39) S894P probably damaging Het
Arhgef12 C A 9: 42,883,570 (GRCm39) G1320C probably damaging Het
Atg7 G C 6: 114,690,255 (GRCm39) G596R probably damaging Het
Birc6 T C 17: 74,873,010 (GRCm39) V423A probably damaging Het
Bltp3a T A 17: 28,105,064 (GRCm39) L586* probably null Het
Cdh17 T C 4: 11,814,628 (GRCm39) S728P probably damaging Het
Ctu2 G A 8: 123,203,256 (GRCm39) R24Q possibly damaging Het
Dclk3 T C 9: 111,298,148 (GRCm39) I564T probably damaging Het
Ddx39b T A 17: 35,462,340 (GRCm39) I42N possibly damaging Het
Defa39 T C 8: 22,192,679 (GRCm39) T106A possibly damaging Het
Dip2c G T 13: 9,687,137 (GRCm39) G1254C probably damaging Het
Dzip1 T A 14: 119,114,645 (GRCm39) K837* probably null Het
Etfbkmt T C 6: 149,046,089 (GRCm39) probably benign Het
Etfrf1 T C 6: 145,161,098 (GRCm39) Y23H probably damaging Het
Fat3 G A 9: 15,909,567 (GRCm39) S2145F probably damaging Het
Gm5611 T A 9: 16,941,989 (GRCm39) noncoding transcript Het
Gpr37l1 T C 1: 135,095,008 (GRCm39) T79A possibly damaging Het
Hrh3 C A 2: 179,744,643 (GRCm39) R99L possibly damaging Het
Hyls1 T A 9: 35,472,714 (GRCm39) Y234F probably damaging Het
Ifnar1 C A 16: 91,293,046 (GRCm39) P230T probably damaging Het
Impact T C 18: 13,109,090 (GRCm39) probably null Het
Kcna6 G C 6: 126,716,737 (GRCm39) R51G probably damaging Het
Lrpprc G A 17: 85,033,766 (GRCm39) T1037M probably benign Het
Or10g9 C A 9: 39,912,194 (GRCm39) E110* probably null Het
Or4a2 C A 2: 89,248,444 (GRCm39) L104F probably benign Het
Or5an6 T C 19: 12,371,665 (GRCm39) F13L probably damaging Het
Or6n2 T A 1: 173,896,999 (GRCm39) I45N probably damaging Het
Pask A G 1: 93,238,540 (GRCm39) V1315A probably damaging Het
Pramel16 T A 4: 143,676,475 (GRCm39) I210F possibly damaging Het
Prl7a2 A T 13: 27,849,050 (GRCm39) Y80N possibly damaging Het
Rhox3f G T X: 36,763,672 (GRCm39) E140* probably null Het
Rtn2 T C 7: 19,020,769 (GRCm39) S81P probably damaging Het
Sbf2 G A 7: 110,027,449 (GRCm39) P470S probably damaging Het
Sec31b G T 19: 44,512,968 (GRCm39) T507N possibly damaging Het
Sox30 A G 11: 45,908,041 (GRCm39) Y736C probably benign Het
Srsf3-ps A T 11: 98,516,223 (GRCm39) V50D probably damaging Het
Synj2 G A 17: 6,058,240 (GRCm39) G243S probably benign Het
Tbr1 C T 2: 61,642,076 (GRCm39) P184L probably benign Het
Tns1 T C 1: 73,981,091 (GRCm39) N1091S probably damaging Het
Trappc10 A G 10: 78,032,264 (GRCm39) F1008S probably benign Het
Ube4a T A 9: 44,860,247 (GRCm39) I272F probably damaging Het
Vmn1r122 A T 7: 20,867,438 (GRCm39) S206T probably damaging Het
Vmn2r1 A C 3: 63,997,176 (GRCm39) K277N probably benign Het
Vps13a T C 19: 16,617,992 (GRCm39) E2931G probably damaging Het
Wdr70 G T 15: 8,006,472 (GRCm39) Q360K probably benign Het
Wdr90 G T 17: 26,068,342 (GRCm39) Q1329K possibly damaging Het
Wrn T C 8: 33,842,183 (GRCm39) N37S probably benign Het
Yap1 A T 9: 7,938,432 (GRCm39) *358K probably null Het
Zfp964 T A 8: 70,116,754 (GRCm39) S450R probably benign Het
Zkscan2 T C 7: 123,081,907 (GRCm39) probably benign Het
Zmynd10 A T 9: 107,426,251 (GRCm39) K133* probably null Het
Other mutations in Epha1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01591:Epha1 APN 6 42,337,485 (GRCm39) missense probably damaging 1.00
IGL02388:Epha1 APN 6 42,341,950 (GRCm39) missense probably damaging 1.00
IGL02614:Epha1 APN 6 42,337,491 (GRCm39) missense probably benign 0.02
IGL03019:Epha1 APN 6 42,339,686 (GRCm39) missense probably damaging 1.00
buddy UTSW 6 42,338,385 (GRCm39) missense probably damaging 1.00
R0369:Epha1 UTSW 6 42,342,407 (GRCm39) missense probably damaging 1.00
R0894:Epha1 UTSW 6 42,340,756 (GRCm39) missense probably benign 0.45
R1353:Epha1 UTSW 6 42,338,771 (GRCm39) missense probably damaging 0.99
R1451:Epha1 UTSW 6 42,338,385 (GRCm39) missense probably damaging 1.00
R1840:Epha1 UTSW 6 42,340,522 (GRCm39) missense probably damaging 0.99
R2064:Epha1 UTSW 6 42,342,987 (GRCm39) missense probably benign 0.01
R2065:Epha1 UTSW 6 42,342,987 (GRCm39) missense probably benign 0.01
R2067:Epha1 UTSW 6 42,342,987 (GRCm39) missense probably benign 0.01
R2087:Epha1 UTSW 6 42,340,502 (GRCm39) missense probably benign 0.01
R3691:Epha1 UTSW 6 42,338,064 (GRCm39) missense probably damaging 1.00
R3952:Epha1 UTSW 6 42,341,219 (GRCm39) missense probably damaging 0.99
R4280:Epha1 UTSW 6 42,341,986 (GRCm39) missense probably damaging 1.00
R4369:Epha1 UTSW 6 42,342,391 (GRCm39) missense probably damaging 1.00
R4371:Epha1 UTSW 6 42,342,391 (GRCm39) missense probably damaging 1.00
R4491:Epha1 UTSW 6 42,337,600 (GRCm39) missense probably damaging 1.00
R4743:Epha1 UTSW 6 42,349,155 (GRCm39) missense probably benign 0.00
R4838:Epha1 UTSW 6 42,340,750 (GRCm39) missense probably benign 0.04
R4847:Epha1 UTSW 6 42,338,848 (GRCm39) missense possibly damaging 0.88
R4857:Epha1 UTSW 6 42,338,416 (GRCm39) missense probably benign 0.00
R4884:Epha1 UTSW 6 42,337,668 (GRCm39) missense probably damaging 0.99
R4929:Epha1 UTSW 6 42,341,533 (GRCm39) missense probably benign 0.05
R5239:Epha1 UTSW 6 42,341,944 (GRCm39) missense possibly damaging 0.87
R5416:Epha1 UTSW 6 42,342,805 (GRCm39) missense probably damaging 1.00
R5595:Epha1 UTSW 6 42,341,568 (GRCm39) missense possibly damaging 0.78
R5838:Epha1 UTSW 6 42,338,580 (GRCm39) missense probably damaging 1.00
R6395:Epha1 UTSW 6 42,343,106 (GRCm39) missense probably damaging 1.00
R6594:Epha1 UTSW 6 42,341,625 (GRCm39) missense probably benign
R6639:Epha1 UTSW 6 42,342,869 (GRCm39) nonsense probably null
R7092:Epha1 UTSW 6 42,341,179 (GRCm39) missense probably benign 0.36
R7569:Epha1 UTSW 6 42,342,356 (GRCm39) missense possibly damaging 0.70
R7705:Epha1 UTSW 6 42,339,602 (GRCm39) missense probably damaging 0.99
R7802:Epha1 UTSW 6 42,338,875 (GRCm39) missense possibly damaging 0.88
R8306:Epha1 UTSW 6 42,335,722 (GRCm39) missense probably damaging 0.97
R8835:Epha1 UTSW 6 42,342,723 (GRCm39) missense probably benign 0.00
R8881:Epha1 UTSW 6 42,337,961 (GRCm39) missense probably damaging 1.00
R9251:Epha1 UTSW 6 42,341,777 (GRCm39) missense probably damaging 1.00
R9525:Epha1 UTSW 6 42,344,758 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- AGGCTCCTTGGTTCAAAGGC -3'
(R):5'- ATGAAGCGCTACATCCTGCAC -3'

Sequencing Primer
(F):5'- CTCCTTGGTTCAAAGGCAGAGTTC -3'
(R):5'- ACTTCCGTTCGGCTGGG -3'
Posted On 2015-05-15