Mutagenetix > Incidental Mutation

Incidental Mutation 'R6357:Esam'

512382

Institutional Source

Beutler Lab

Gene Symbol

Esam

Ensembl Gene

ENSMUSG00000001946

Gene Name

endothelial cell-specific adhesion molecule

Synonyms

W117m, 2310008D05Rik

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.127) question?

Stock #

R6357 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

37439385-37449615 bp(+) (GRCm39)

Type of Mutation

makesense

DNA Base Change (assembly)

T to C at 37449076 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Stop codon to Arginine at position 395 (*395R)

Ref Sequence

ENSEMBL: ENSMUSP00000002011 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000002008] [ENSMUST00000002011] [ENSMUST00000123198] [ENSMUST00000146860] [ENSMUST00000213699] [ENSMUST00000214142] [ENSMUST00000215957] [ENSMUST00000215271]

AlphaFold

Q925F2

Predicted Effect

probably benign
Transcript: ENSMUST00000002008

SMART Domains

Protein: ENSMUSP00000002008
Gene: ENSMUSG00000001943

Domain	Start	End	E-Value	Type
IGv	41	124	4.03e-8	SMART
IGc2	158	225	1.06e-7	SMART
transmembrane domain	243	265	N/A	INTRINSIC
low complexity region	315	326	N/A	INTRINSIC

Predicted Effect

probably null
Transcript: ENSMUST00000002011
AA Change: *395R

SMART Domains

Protein: ENSMUSP00000002011
Gene: ENSMUSG00000001946
AA Change: *395R

Domain	Start	End	E-Value	Type
signal peptide	1	29	N/A	INTRINSIC
IG	39	153	4.82e-6	SMART
IGc2	168	234	1.17e-4	SMART
transmembrane domain	252	274	N/A	INTRINSIC
low complexity region	319	332	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000123198

SMART Domains

Protein: ENSMUSP00000116300
Gene: ENSMUSG00000001946

Domain	Start	End	E-Value	Type
Blast:IG	9	72	1e-40	BLAST

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000131832

Predicted Effect

probably benign
Transcript: ENSMUST00000146860

SMART Domains

Protein: ENSMUSP00000122473
Gene: ENSMUSG00000001946

Domain	Start	End	E-Value	Type
IG	9	123	4.82e-6	SMART
IGc2	138	204	1.17e-4	SMART
transmembrane domain	222	244	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000213502

Predicted Effect

probably benign
Transcript: ENSMUST00000213699

Predicted Effect

probably benign
Transcript: ENSMUST00000214142

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000215710

Predicted Effect

probably benign
Transcript: ENSMUST00000215957

Predicted Effect

probably benign
Transcript: ENSMUST00000215271

Coding Region Coverage

1x: 100.0%
3x: 99.7%
10x: 97.8%
20x: 92.8%

Validation Efficiency

MGI Phenotype

PHENOTYPE: Mice homozygous for a null allele exhbit a decrease in body weight, impaired neutrophil transmigration and decreased immune and VEGF-stimulated vascular permeability. Tumor growth is inhibited due to decreased pathological angiogenesis in homozygous mutant mice. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 48 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acsbg3	T	C	17: 57,184,591 (GRCm39)		probably null	Het
Aoc1l2	A	G	6: 48,907,908 (GRCm39)	M303V	probably benign	Het
Armh4	A	T	14: 50,010,769 (GRCm39)	S313T	probably benign	Het
Calcr	T	C	6: 3,714,710 (GRCm39)	D140G	probably benign	Het
Card10	T	C	15: 78,683,579 (GRCm39)	E188G	probably damaging	Het
Cenpq	T	C	17: 41,235,418 (GRCm39)	E193G	probably damaging	Het
Cep164	G	A	9: 45,682,182 (GRCm39)	L1874F	probably damaging	Het
Dennd3	T	C	15: 73,428,321 (GRCm39)	M889T	possibly damaging	Het
Dnah9	T	C	11: 65,765,022 (GRCm39)	K3841E	probably damaging	Het
Dynlt2b	T	G	16: 32,247,873 (GRCm39)		probably null	Het
Eci2	A	G	13: 35,177,082 (GRCm39)	V26A	possibly damaging	Het
Eftud2	A	T	11: 102,755,606 (GRCm39)	N200K	probably damaging	Het
Eml5	T	A	12: 98,837,143 (GRCm39)	H357L	probably damaging	Het
Galt	C	T	4: 41,757,565 (GRCm39)	P246S	probably benign	Het
Gjb3	A	T	4: 127,220,423 (GRCm39)	Y36*	probably null	Het
Gli2	T	C	1: 118,769,689 (GRCm39)	E621G	probably damaging	Het
Gls	T	C	1: 52,258,665 (GRCm39)	D201G	probably damaging	Het
Gm10801	C	CGTCA	2: 98,494,152 (GRCm39)		probably null	Het
Gm1110	T	C	9: 26,825,424 (GRCm39)		probably null	Het
Gm5565	T	A	5: 146,097,283 (GRCm39)	H13L	possibly damaging	Het
Hydin	A	C	8: 111,268,289 (GRCm39)	T2923P	possibly damaging	Het
Kank1	A	T	19: 25,388,717 (GRCm39)	I797L	probably benign	Het
Klhdc8a	A	T	1: 132,230,891 (GRCm39)	Q252L	probably damaging	Het
Kmt5c	T	C	7: 4,745,204 (GRCm39)	F65S	possibly damaging	Het
Lix1	C	T	17: 17,666,255 (GRCm39)	P138L	probably benign	Het
Lnpep	T	C	17: 17,773,176 (GRCm39)	N664S	probably benign	Het
Msh6	T	A	17: 88,291,888 (GRCm39)	Y214*	probably null	Het
Nefl	A	G	14: 68,321,767 (GRCm39)	E119G	probably damaging	Het
Nptxr	C	A	15: 79,678,516 (GRCm39)	R257L	possibly damaging	Het
Or4k15c	C	A	14: 50,321,446 (GRCm39)	A231S	probably damaging	Het
Or7e173	T	A	9: 19,938,925 (GRCm39)	Q103L	probably damaging	Het
Oxct2b	A	G	4: 123,010,709 (GRCm39)	I210V	probably benign	Het
Plppr3	T	A	10: 79,701,240 (GRCm39)	Q534L	probably benign	Het
Psma1	T	C	7: 113,873,602 (GRCm39)		probably null	Het
Rbp3	G	A	14: 33,678,991 (GRCm39)	A980T	probably damaging	Het
Ripply2	T	A	9: 86,898,331 (GRCm39)	S58R	possibly damaging	Het
Robo1	T	C	16: 72,767,190 (GRCm39)	V454A	probably benign	Het
Sacs	A	G	14: 61,446,273 (GRCm39)	D2773G	possibly damaging	Het
Sirpb1b	A	T	3: 15,568,243 (GRCm39)	V366E	possibly damaging	Het
Slc5a7	T	C	17: 54,594,389 (GRCm39)	I197M	probably benign	Het
Spata31f1a	T	A	4: 42,850,393 (GRCm39)	I588F	probably damaging	Het
Spmap2	T	C	10: 79,422,789 (GRCm39)	S38G	probably benign	Het
Srgap2	T	C	1: 131,283,280 (GRCm39)	Y267C	probably damaging	Het
Ssc4d	T	C	5: 135,994,950 (GRCm39)	T189A	probably benign	Het
Tas2r106	A	G	6: 131,654,925 (GRCm39)	*309Q	probably null	Het
Vmn2r44	T	C	7: 8,373,657 (GRCm39)	M511V	probably benign	Het
Wdfy4	G	T	14: 32,823,006 (GRCm39)	Y1364*	probably null	Het
Zbtb8a	T	C	4: 129,248,092 (GRCm39)	H393R	probably benign	Het

Other mutations in Esam

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL03180:Esam	APN	9	37,445,866 (GRCm39)	missense	probably damaging	0.99
IGL03408:Esam	APN	9	37,445,949 (GRCm39)	missense	possibly damaging	0.52
R0755:Esam	UTSW	9	37,447,998 (GRCm39)	missense	probably damaging	0.98
R1657:Esam	UTSW	9	37,448,917 (GRCm39)	missense	probably damaging	1.00
R2349:Esam	UTSW	9	37,439,527 (GRCm39)	missense	probably benign
R3418:Esam	UTSW	9	37,448,426 (GRCm39)	splice site	probably null
R4373:Esam	UTSW	9	37,445,492 (GRCm39)	missense	probably benign
R4669:Esam	UTSW	9	37,447,952 (GRCm39)	nonsense	probably null
R6175:Esam	UTSW	9	37,439,544 (GRCm39)	missense	probably benign	0.01
R7293:Esam	UTSW	9	37,449,020 (GRCm39)	missense	probably damaging	1.00
R7472:Esam	UTSW	9	37,448,863 (GRCm39)	missense	possibly damaging	0.77
R7953:Esam	UTSW	9	37,448,317 (GRCm39)	missense	probably damaging	0.99
R8043:Esam	UTSW	9	37,448,317 (GRCm39)	missense	probably damaging	0.99
R8336:Esam	UTSW	9	37,448,362 (GRCm39)	missense	probably benign	0.37
R8790:Esam	UTSW	9	37,442,927 (GRCm39)	missense	probably benign

Predicted Primers

PCR Primer
(F):5'- GACCTGGCACATTTACTCCC -3'
(R):5'- GAAGTGAAGCCTCCTCACTC -3'

Sequencing Primer
(F):5'- CACACCCAGTGTCTCTAGC -3'
(R):5'- GTCCTTTGACCCAGATTTTAGTC -3'

Posted On

2018-04-27