Mutagenetix > Incidental Mutation

Incidental Mutation 'R9525:Epha1'

719142

Institutional Source

Beutler Lab

Gene Symbol

Epha1

Ensembl Gene

ENSMUSG00000029859

Gene Name

Eph receptor A1

Synonyms

Esk, 5730453L17Rik, Eph

MMRRC Submission

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.142) question?

Stock #

R9525 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

42335421-42350202 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 42344758 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Methionine to Lysine at position 66 (M66K)

Ref Sequence

ENSEMBL: ENSMUSP00000073099 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000073387] [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 damaging
Transcript: ENSMUST00000073387
AA Change: M66K

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000073099
Gene: ENSMUSG00000029859
AA Change: M66K

Domain	Start	End	E-Value	Type
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 damaging
Transcript: ENSMUST00000204357
AA Change: M66K

PolyPhen 2 Score 0.964 (Sensitivity: 0.78; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000144763
Gene: ENSMUSG00000029859
AA Change: M66K

Domain	Start	End	E-Value	Type
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

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 99.1%

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: 67 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aadacl4fm2	T	A	4: 144,282,000 (GRCm39)	D264V	possibly damaging	Het
Adgrv1	C	T	13: 81,593,453 (GRCm39)	G4178E	possibly damaging	Het
Alpk2	A	G	18: 65,399,288 (GRCm39)	Y2097H	probably damaging	Het
Anapc2	T	C	2: 25,166,339 (GRCm39)	S369P	probably damaging	Het
Atr	C	T	9: 95,792,610 (GRCm39)	A1644V	possibly damaging	Het
Camsap1	G	A	2: 25,843,962 (GRCm39)	H230Y	probably benign	Het
Cbx7	A	C	15: 79,814,797 (GRCm39)	W35G	probably damaging	Het
Cc2d2b	T	C	19: 40,773,430 (GRCm39)	Y498H	probably damaging	Het
Ccdc162	T	A	10: 41,559,222 (GRCm39)	R126W	probably damaging	Het
Cd274	T	A	19: 29,359,879 (GRCm39)	L228Q	probably benign	Het
Cfap57	A	T	4: 118,433,778 (GRCm39)	I1000N	probably damaging	Het
Cfhr4	G	T	1: 139,702,250 (GRCm39)	T78K	probably damaging	Het
Chadl	C	A	15: 81,578,220 (GRCm39)	G470C	probably damaging	Het
Clasp2	T	C	9: 113,740,677 (GRCm39)	L1217P	probably damaging	Het
Crnkl1	A	G	2: 145,770,198 (GRCm39)	V215A	probably benign	Het
Dbx2	G	T	15: 95,552,304 (GRCm39)	H114N	probably benign	Het
Ddb2	T	G	2: 91,065,180 (GRCm39)	T82P	probably benign	Het
Emc8	T	C	8: 121,394,656 (GRCm39)	Y21C	probably damaging	Het
Fan1	A	C	7: 64,022,007 (GRCm39)		probably null	Het
Fgd2	T	A	17: 29,583,955 (GRCm39)	L123Q	probably damaging	Het
Flnb	T	A	14: 7,905,481 (GRCm38)	V1077E	probably damaging	Het
Fnbp1l	A	T	3: 122,352,703 (GRCm39)	M251K	probably damaging	Het
Gal3st2c	T	A	1: 93,935,928 (GRCm39)	F93L	probably damaging	Het
Gdf2	T	C	14: 33,667,564 (GRCm39)	*429Q	probably null	Het
Gdpd5	A	G	7: 99,104,156 (GRCm39)	T455A	possibly damaging	Het
Gm8356	G	T	14: 17,691,339 (GRCm39)	Q109K		Het
Gpr20	A	T	15: 73,567,681 (GRCm39)	V236E	probably benign	Het
Gpr39	T	C	1: 125,800,323 (GRCm39)	V358A	probably damaging	Het
Grin1	T	C	2: 25,187,472 (GRCm39)	N613D	probably damaging	Het
H2bc15	G	T	13: 21,938,305 (GRCm39)	A5S	unknown	Het
Hepacam2	A	G	6: 3,476,046 (GRCm39)	V293A	probably benign	Het
Igf1r	G	A	7: 67,864,682 (GRCm39)	R1160Q	probably damaging	Het
Iqcd	T	C	5: 120,738,217 (GRCm39)	Y12H	probably benign	Het
Itih1	T	C	14: 30,658,711 (GRCm39)	S393G	probably benign	Het
Klhl33	T	C	14: 51,128,929 (GRCm39)	M507V	probably null	Het
Mast4	G	T	13: 102,872,944 (GRCm39)	H2141Q	probably benign	Het
Mkrn2	T	A	6: 115,587,486 (GRCm39)	D54E	probably damaging	Het
Mrm3	A	G	11: 76,141,104 (GRCm39)	T371A	possibly damaging	Het
Msantd5f3	G	A	4: 73,573,061 (GRCm39)	S100N	probably benign	Het
Mylk2	T	A	2: 152,759,552 (GRCm39)	M414K	probably damaging	Het
Nlrp4b	A	G	7: 10,448,748 (GRCm39)	E317G	probably damaging	Het
Or51b6b	A	T	7: 103,310,142 (GRCm39)	I105N	probably damaging	Het
Or51i2	A	G	7: 103,689,820 (GRCm39)	I272M	possibly damaging	Het
Or8k20	A	G	2: 86,106,484 (GRCm39)	S116P	probably benign	Het
Pcdhb18	T	A	18: 37,624,887 (GRCm39)	V739E	probably damaging	Het
Pkhd1l1	A	T	15: 44,448,322 (GRCm39)	T3834S	possibly damaging	Het
Pkp3	A	G	7: 140,668,310 (GRCm39)	D546G	probably damaging	Het
Pot1a	A	T	6: 25,745,916 (GRCm39)	M595K	probably benign	Het
Pus7l	A	G	15: 94,438,764 (GRCm39)	I27T	probably damaging	Het
Rbp3	A	G	14: 33,676,402 (GRCm39)	I117V	probably benign	Het
Rnf19a	A	T	15: 36,247,375 (GRCm39)	L454H	probably damaging	Het
Rps6kb1	C	A	11: 86,410,746 (GRCm39)	K167N	possibly damaging	Het
Saxo1	A	T	4: 86,363,186 (GRCm39)	Y432*	probably null	Het
Setdb2	A	T	14: 59,646,841 (GRCm39)	V558E	probably benign	Het
Spmap2l	A	G	5: 77,195,138 (GRCm39)	N104S	probably benign	Het
Tbck	T	C	3: 132,456,966 (GRCm39)	F627L	probably damaging	Het
Tbpl2	T	G	2: 23,986,547 (GRCm39)	M1L	probably benign	Het
Timp2	A	C	11: 118,194,678 (GRCm39)	D170E	probably benign	Het
Tomm40	A	G	7: 19,436,812 (GRCm39)	Y303H	probably damaging	Het
Trgv5	T	C	13: 19,376,885 (GRCm39)	C111R	probably damaging	Het
Trhr	T	C	15: 44,060,873 (GRCm39)	I131T	possibly damaging	Het
Vmn1r159	A	G	7: 22,542,417 (GRCm39)	V205A	probably damaging	Het
Vmn2r25	G	T	6: 123,800,164 (GRCm39)	T726K	probably damaging	Het
Wwox	T	A	8: 115,433,105 (GRCm39)	V257E	probably benign	Het
Xxylt1	A	G	16: 30,869,593 (GRCm39)	I169T	probably benign	Het
Zfp1007	A	T	5: 109,824,846 (GRCm39)	N201K		Het
Zfp457	T	C	13: 67,441,492 (GRCm39)	Y361C	probably damaging	Het

Other mutations in Epha1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH 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
R4111:Epha1	UTSW	6	42,335,772 (GRCm39)	missense	possibly damaging	0.88
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

Predicted Primers

PCR Primer
(F):5'- TGAATGCCCACATCCTGGTC -3'
(R):5'- GGTTGCTATCTTATCTGCCCCAAG -3'

Sequencing Primer
(F):5'- CTGGTCACTCTCCATGTAGAAAAGG -3'
(R):5'- TTATCTGCCCCAAGTCCAAATAATG -3'

Posted On

2022-07-18