Mutagenetix > Incidental Mutation

Incidental Mutation 'R1657:Esam'

186465

Institutional Source

Beutler Lab

Gene Symbol

Esam

Ensembl Gene

ENSMUSG00000001946

Gene Name

endothelial cell-specific adhesion molecule

Synonyms

2310008D05Rik, W117m

MMRRC Submission

039693-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.157) question?

Stock #

R1657 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

37528078-37538319 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 37537621 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Serine to Proline at position 342 (S342P)

Ref Sequence

ENSEMBL: ENSMUSP00000002011 (fasta)

Gene Model

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

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 damaging
Transcript: ENSMUST00000002011
AA Change: S342P

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000002011
Gene: ENSMUSG00000001946
AA Change: S342P

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

probably benign
Transcript: ENSMUST00000215271

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000215710

Predicted Effect

probably benign
Transcript: ENSMUST00000215957

Coding Region Coverage

1x: 99.1%
3x: 98.4%
10x: 96.5%
20x: 93.2%

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: 55 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
0610009B22Rik	T	C	11: 51,685,678	Q131R	probably benign	Het
3632451O06Rik	G	C	14: 49,773,560	T230S	probably damaging	Het
Acaca	T	G	11: 84,264,084	D988E	probably benign	Het
Als2	A	G	1: 59,180,601	V1185A	probably damaging	Het
Amdhd2	A	G	17: 24,156,055	V391A	probably damaging	Het
Caprin1	A	T	2: 103,769,506	V608E	probably damaging	Het
Celsr3	T	A	9: 108,842,952	C2512*	probably null	Het
Cfl1	A	T	19: 5,493,555	R187W	probably damaging	Het
Cgnl1	C	T	9: 71,725,944	V42I	probably damaging	Het
Chd2	A	G	7: 73,480,430	Y826H	probably damaging	Het
Col9a2	C	A	4: 121,040,974	P28T	unknown	Het
Cyp3a44	G	A	5: 145,779,743	P346S	probably damaging	Het
Dact2	A	G	17: 14,197,990	V151A	probably benign	Het
Dhx29	T	C	13: 112,952,843	I716T	probably damaging	Het
Fam189a2	C	A	19: 23,975,635	C437F	probably damaging	Het
Fer1l4	A	G	2: 156,035,598	V1053A	possibly damaging	Het
Grk3	A	G	5: 112,966,982	F124S	probably damaging	Het
H2-DMa	G	A	17: 34,137,399		probably null	Het
Hsd3b5	T	A	3: 98,619,720	I137F	possibly damaging	Het
Itgav	A	T	2: 83,801,779	I902F	probably benign	Het
Itsn1	G	T	16: 91,909,223	C179F	probably damaging	Het
Kcnh8	G	A	17: 52,839,125	R347H	probably damaging	Het
Kif9	T	C	9: 110,489,966	M166T	possibly damaging	Het
Kmt5c	C	T	7: 4,746,454	Q324*	probably null	Het
Lcn9	G	A	2: 25,824,710	E154K	probably benign	Het
Mfge8	A	T	7: 79,141,773	L227Q	probably benign	Het
Mroh2b	A	T	15: 4,931,043	R753*	probably null	Het
Mtif2	G	A	11: 29,540,721	R475Q	probably benign	Het
Nln	C	T	13: 104,036,947	V584I	possibly damaging	Het
Nr2e3	T	C	9: 59,948,767	E129G	probably benign	Het
Ocstamp	T	C	2: 165,397,516	D250G	probably damaging	Het
Olfr1065	A	C	2: 86,445,218	L255V	probably damaging	Het
Olfr403	A	T	11: 74,195,896	H131L	probably damaging	Het
Olfr503	T	C	7: 108,545,377	I284T	possibly damaging	Het
Pld1	A	T	3: 28,071,187	I417L	probably benign	Het
Polr1a	A	T	6: 71,941,535	K692N	probably damaging	Het
Qsox2	A	T	2: 26,220,747	Y152*	probably null	Het
Rpap1	T	C	2: 119,783,778	D46G	possibly damaging	Het
Rpe65	A	G	3: 159,614,448	T246A	probably damaging	Het
Scn5a	T	C	9: 119,562,380	D82G	probably damaging	Het
Sema3d	A	G	5: 12,584,974	E669G	possibly damaging	Het
Serpinb6c	T	C	13: 33,880,226	N282S	probably benign	Het
Snap47	A	T	11: 59,428,770	S181T	probably benign	Het
Snx9	A	C	17: 5,918,436	T336P	possibly damaging	Het
Sphkap	G	A	1: 83,277,515	R838*	probably null	Het
Terb1	A	T	8: 104,488,491	D284E	possibly damaging	Het
Tmem266	C	T	9: 55,418,008	A153V	probably damaging	Het
Ttn	T	C	2: 76,742,804	E25915G	possibly damaging	Het
Tubal3	A	G	13: 3,933,011	T264A	possibly damaging	Het
Vldlr	G	A	19: 27,245,670	R747Q	probably benign	Het
Zc3h8	G	T	2: 128,929,957		probably benign	Het
Zfp184	C	T	13: 21,959,273	T383M	probably damaging	Het
Zfp455	T	C	13: 67,198,639	F38S	possibly damaging	Het
Zfp746	A	G	6: 48,082,174	V167A	possibly damaging	Het
Zfp985	T	A	4: 147,584,110	N478K	probably benign	Het

Other mutations in Esam

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL03180:Esam	APN	9	37534570	missense	probably damaging	0.99
IGL03408:Esam	APN	9	37534653	missense	possibly damaging	0.52
R0755:Esam	UTSW	9	37536702	missense	probably damaging	0.98
R2349:Esam	UTSW	9	37528231	missense	probably benign
R3418:Esam	UTSW	9	37537130	splice site	probably null
R4373:Esam	UTSW	9	37534196	missense	probably benign
R4669:Esam	UTSW	9	37536656	nonsense	probably null
R6175:Esam	UTSW	9	37528248	missense	probably benign	0.01
R6357:Esam	UTSW	9	37537780	makesense	probably null
R7293:Esam	UTSW	9	37537724	missense	probably damaging	1.00
R7472:Esam	UTSW	9	37537567	missense	possibly damaging	0.77
R7953:Esam	UTSW	9	37537021	missense	probably damaging	0.99
R8043:Esam	UTSW	9	37537021	missense	probably damaging	0.99
R8336:Esam	UTSW	9	37537066	missense	probably benign	0.37
R8790:Esam	UTSW	9	37531631	missense	probably benign

Predicted Primers

PCR Primer
(F):5'- TGACCAGGGAAGATGCCATTGC -3'
(R):5'- TCCCAAGATTGAGTCCTCTGTGCC -3'

Sequencing Primer
(F):5'- GAAGATGCCATTGCTCCCC -3'
(R):5'- TACCAGATGTAGCTAATGAGTGCC -3'

Posted On

2014-05-09