Mutagenetix > Incidental Mutation

Incidental Mutation 'R3418:Esam'

266907

Institutional Source

Beutler Lab

Gene Symbol

Esam

Ensembl Gene

ENSMUSG00000001946

Gene Name

endothelial cell-specific adhesion molecule

Synonyms

W117m, 2310008D05Rik

MMRRC Submission

040636-MU

Accession Numbers

Essential gene?

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

Stock #

R3418 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

37439385-37449615 bp(+) (GRCm39)

Type of Mutation

splice site

DNA Base Change (assembly)

C to T at 37448426 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000002011 (fasta)

Gene Model

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

SMART Domains

Protein: ENSMUSP00000002011
Gene: ENSMUSG00000001946

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

noncoding transcript
Transcript: ENSMUST00000215710

Predicted Effect

probably benign
Transcript: ENSMUST00000215957

Predicted Effect

probably benign
Transcript: ENSMUST00000214142

Predicted Effect

probably benign
Transcript: ENSMUST00000215271

Meta Mutation Damage Score

0.9755

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.2%
20x: 94.6%

Validation Efficiency

98% (61/62)

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: 60 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
5530400C23Rik	A	G	6: 133,271,082 (GRCm39)	Q42R	probably benign	Het
Acaa1a	A	G	9: 119,178,556 (GRCm39)		probably null	Het
Agbl5	T	C	5: 31,062,067 (GRCm39)	S756P	probably damaging	Het
Armc9	T	C	1: 86,122,060 (GRCm39)	L395P	probably damaging	Het
Cdc16	C	T	8: 13,819,489 (GRCm39)	Q362*	probably null	Het
Cdh5	C	T	8: 104,856,002 (GRCm39)	R312C	probably damaging	Het
Cep170b	C	T	12: 112,704,902 (GRCm39)	Q887*	probably null	Het
Chd9	T	C	8: 91,763,219 (GRCm39)	I2348T	probably damaging	Het
Clec9a	A	G	6: 129,398,001 (GRCm39)		probably benign	Het
Col6a3	T	C	1: 90,731,813 (GRCm39)	D873G	probably benign	Het
D130040H23Rik	T	C	8: 69,755,579 (GRCm39)	I328T	probably benign	Het
Dido1	G	T	2: 180,302,728 (GRCm39)	D1725E	possibly damaging	Het
Dnajb14	A	G	3: 137,598,631 (GRCm39)	D123G	probably null	Het
Dock2	A	T	11: 34,580,587 (GRCm39)	M661K	probably damaging	Het
Fam20c	A	T	5: 138,743,623 (GRCm39)	N220Y	probably damaging	Het
Fat2	G	T	11: 55,169,824 (GRCm39)	H2978Q	probably benign	Het
Fbn1	T	C	2: 125,162,846 (GRCm39)	T2147A	possibly damaging	Het
Fdft1	T	C	14: 63,394,070 (GRCm39)	T214A	probably damaging	Het
Fhl5	T	C	4: 25,211,252 (GRCm39)	S147G	probably benign	Het
Flrt2	A	G	12: 95,747,378 (GRCm39)	Y572C	probably damaging	Het
Gcat	A	T	15: 78,926,297 (GRCm39)	T56S	possibly damaging	Het
Gemin5	A	T	11: 58,047,454 (GRCm39)		probably null	Het
Gm4736	A	T	6: 132,092,640 (GRCm39)		noncoding transcript	Het
Grin2b	T	C	6: 135,820,108 (GRCm39)	N368S	probably benign	Het
Gsto1	T	C	19: 47,846,344 (GRCm39)	F64L	probably benign	Het
Gucy1a1	A	G	3: 82,013,440 (GRCm39)	S401P	probably damaging	Het
Htr1f	G	A	16: 64,746,260 (GRCm39)	P344L	probably damaging	Het
Ighv7-3	T	A	12: 114,116,919 (GRCm39)	Y81F	probably damaging	Het
Jakmip3	C	A	7: 138,619,474 (GRCm39)		probably benign	Het
Kcnj13	T	C	1: 87,314,641 (GRCm39)	T194A	probably benign	Het
Khdrbs3	T	C	15: 68,921,224 (GRCm39)		probably benign	Het
Klk14	G	A	7: 43,341,501 (GRCm39)	C51Y	probably damaging	Het
Lyn	A	T	4: 3,746,833 (GRCm39)	I204F	probably damaging	Het
Mbd6	C	G	10: 127,122,372 (GRCm39)	R152P	probably null	Het
Myof	A	G	19: 37,911,426 (GRCm39)	S1502P	probably damaging	Het
Myom2	T	G	8: 15,135,294 (GRCm39)	I499S	probably benign	Het
Nos2	T	A	11: 78,850,521 (GRCm39)	F1126L	possibly damaging	Het
Or3a4	G	A	11: 73,944,814 (GRCm39)	T257I	probably damaging	Het
P2ry1	T	C	3: 60,911,133 (GRCm39)	F91L	probably damaging	Het
Pcdh15	C	A	10: 74,420,054 (GRCm39)	D1166E	probably benign	Het
Pou6f1	C	A	15: 100,478,805 (GRCm39)	V368L	probably benign	Het
Ptcd3	A	T	6: 71,860,470 (GRCm39)	I579K	possibly damaging	Het
Rbm45	A	G	2: 76,209,362 (GRCm39)	E392G	probably damaging	Het
Rnf168	A	G	16: 32,118,010 (GRCm39)	N524D	probably benign	Het
Rnf222	G	T	11: 68,783,982 (GRCm39)	R183L	probably damaging	Het
Robo1	C	T	16: 72,832,805 (GRCm39)	T1526I	probably benign	Het
Sel1l	A	G	12: 91,776,776 (GRCm39)	W689R	probably damaging	Het
Serpinb13	T	C	1: 106,926,657 (GRCm39)	S218P	probably damaging	Het
Serpini1	A	G	3: 75,547,589 (GRCm39)	Y367C	probably damaging	Het
Slc13a2	A	G	11: 78,291,666 (GRCm39)	F329S	probably benign	Het
Smc2	T	C	4: 52,476,850 (GRCm39)		probably benign	Het
Sycp2	A	T	2: 178,043,446 (GRCm39)		probably benign	Het
Tab2	G	A	10: 7,783,245 (GRCm39)	P679L	probably damaging	Het
Tdrd1	T	A	19: 56,819,663 (GRCm39)	N54K	possibly damaging	Het
Tgfbr2	T	C	9: 115,958,901 (GRCm39)	Y146C	probably damaging	Het
Tnfrsf11a	A	G	1: 105,737,130 (GRCm39)	D79G	possibly damaging	Het
Trpa1	T	C	1: 14,944,605 (GRCm39)	I1046M	probably benign	Het
Ubn1	A	G	16: 4,892,243 (GRCm39)		probably benign	Het
Ubp1	T	C	9: 113,780,754 (GRCm39)		probably null	Het
Vmn2r2	A	T	3: 64,024,320 (GRCm39)	F754I	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
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
R6357:Esam	UTSW	9	37,449,076 (GRCm39)	makesense	probably null
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'- GGCAGAATGTCATGGTGATAGC -3'
(R):5'- AGCAATGGCATCTTCCCTGG -3'

Sequencing Primer
(F):5'- TCATGGTGATAGCTGAGTAGTGGAAC -3'
(R):5'- GGCATCTTCCCTGGTCATCAAATAAG -3'

Posted On

2015-02-18