Mutagenetix > Incidental Mutation

Incidental Mutation 'R4373:Esam'

326066

Institutional Source

Beutler Lab

Gene Symbol

Esam

Ensembl Gene

ENSMUSG00000001946

Gene Name

endothelial cell-specific adhesion molecule

Synonyms

W117m, 2310008D05Rik

MMRRC Submission

041675-MU

Accession Numbers

Essential gene?

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

Stock #

R4373 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

37439385-37449615 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 37445492 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Isoleucine at position 71 (T71I)

Ref Sequence

ENSEMBL: ENSMUSP00000122473 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000002011] [ENSMUST00000123198] [ENSMUST00000144596] [ENSMUST00000146860] [ENSMUST00000214142]

AlphaFold

Q925F2

Predicted Effect

probably benign
Transcript: ENSMUST00000002011
AA Change: T101I

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000002011
Gene: ENSMUSG00000001946
AA Change: T101I

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
AA Change: T71I

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000116300
Gene: ENSMUSG00000001946
AA Change: T71I

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000131832

Predicted Effect

probably benign
Transcript: ENSMUST00000144596

Predicted Effect

probably benign
Transcript: ENSMUST00000146860
AA Change: T71I

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000122473
Gene: ENSMUSG00000001946
AA Change: T71I

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

probably benign
Transcript: ENSMUST00000214142

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.2%
20x: 94.9%

Validation Efficiency

98% (54/55)

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: 50 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adck5	A	G	15: 76,478,535 (GRCm39)		probably benign	Het
Akr1b1	A	C	6: 34,281,202 (GRCm39)		probably benign	Het
Armh4	T	A	14: 50,007,893 (GRCm39)	T527S	probably damaging	Het
Asns	A	T	6: 7,677,978 (GRCm39)	S367T	probably damaging	Het
BC034090	T	C	1: 155,101,904 (GRCm39)	N120S	probably benign	Het
Bub1	A	T	2: 127,647,156 (GRCm39)		probably benign	Het
Csf1	T	A	3: 107,664,055 (GRCm39)	T38S	probably damaging	Het
Ctsz	T	C	2: 174,270,378 (GRCm39)	E268G	possibly damaging	Het
Dach1	G	A	14: 98,065,186 (GRCm39)	T685I	possibly damaging	Het
Dclre1a	A	G	19: 56,533,874 (GRCm39)	L240S	probably benign	Het
Ercc1	G	A	7: 19,081,057 (GRCm39)		probably benign	Het
Espl1	A	G	15: 102,221,424 (GRCm39)	I944V	probably damaging	Het
Gde1	A	G	7: 118,297,781 (GRCm39)	L35P	possibly damaging	Het
Gm10382	A	G	5: 125,466,647 (GRCm39)		probably benign	Het
H2-M10.6	T	C	17: 37,123,958 (GRCm39)	Y141H	probably damaging	Het
Hk1	C	A	10: 62,151,319 (GRCm39)	K10N	probably damaging	Het
Lamc3	A	G	2: 31,788,244 (GRCm39)	K135E	probably damaging	Het
Lrtm2	A	G	6: 119,297,489 (GRCm39)	F184S	probably damaging	Het
Marchf11	A	G	15: 26,309,532 (GRCm39)	E62G	probably damaging	Het
Mtcl1	T	A	17: 66,687,074 (GRCm39)	T611S	probably benign	Het
Myc	A	T	15: 61,861,513 (GRCm39)	H373L	probably damaging	Het
Myh6	T	A	14: 55,199,565 (GRCm39)	I249F	probably damaging	Het
Naaa	T	C	5: 92,426,002 (GRCm39)		probably benign	Het
Nfib	A	G	4: 82,241,895 (GRCm39)	V432A	probably damaging	Het
Nmt1	A	G	11: 102,934,026 (GRCm39)	K55R	probably damaging	Het
Opa3	C	T	7: 18,978,699 (GRCm39)	R55W	probably damaging	Het
Or4c122	T	C	2: 89,079,589 (GRCm39)	R150G	possibly damaging	Het
Pfn4	T	A	12: 4,820,182 (GRCm39)	D10E	probably damaging	Het
Pld5	T	A	1: 175,967,583 (GRCm39)	I91F	probably damaging	Het
Plec	A	C	15: 76,067,317 (GRCm39)	S1350A	probably damaging	Het
Polq	G	T	16: 36,833,543 (GRCm39)	V79F	probably damaging	Het
Ppp1r16b	T	C	2: 158,603,685 (GRCm39)	Y537H	probably damaging	Het
Prdm8	T	C	5: 98,334,367 (GRCm39)	S645P	probably damaging	Het
Rgs1	T	C	1: 144,123,644 (GRCm39)	T94A	probably benign	Het
Rpl11	G	A	4: 135,778,454 (GRCm39)		probably benign	Het
Sanbr	A	T	11: 23,565,265 (GRCm39)		probably null	Het
Scamp3	G	A	3: 89,089,234 (GRCm39)		probably null	Het
Sgsm1	TTTTATATT	TTT	5: 113,405,989 (GRCm39)		probably benign	Het
Sirpb1b	A	T	3: 15,613,821 (GRCm39)	I87K	probably damaging	Het
Slc14a2	G	A	18: 78,250,283 (GRCm39)	R62C	probably damaging	Het
Stat4	T	C	1: 52,111,100 (GRCm39)		probably null	Het
Tex9	A	T	9: 72,387,877 (GRCm39)		probably null	Het
Tsku	T	C	7: 98,002,038 (GRCm39)	T98A	probably benign	Het
Ttc23l	CT	CTTGGATT	15: 10,537,648 (GRCm39)		probably benign	Het
Ttc23l	G	A	15: 10,537,652 (GRCm39)	S206L	probably benign	Het
Vmn2r116	A	C	17: 23,620,395 (GRCm39)	I710L	probably benign	Het
Vmn2r16	A	T	5: 109,511,667 (GRCm39)	I625F	probably damaging	Het
Xpo4	G	A	14: 57,828,479 (GRCm39)	Q794*	probably null	Het
Zfp112	T	A	7: 23,824,473 (GRCm39)	I147N	probably damaging	Het
Zmiz1	T	C	14: 25,636,434 (GRCm39)	S140P	probably damaging	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
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'- ACTGCCTAGAGTTGTGAGCG -3'
(R):5'- GTGTGTCTTACTCACCCAGCAC -3'

Sequencing Primer
(F):5'- AGGTTACTAAAAGGTGGTTCAGGTC -3'
(R):5'- ACCCAGCACTTTGAGCTCTATG -3'

Posted On

2015-07-06