Mutagenetix > Incidental Mutation

Incidental Mutation 'R0547:Jam3'

44910

Institutional Source

Beutler Lab

Gene Symbol

Jam3

Ensembl Gene

ENSMUSG00000031990

Gene Name

junction adhesion molecule 3

Synonyms

1110002N23Rik, Jcam3, JAM-3, JAM-C

MMRRC Submission

038739-MU

Accession Numbers

Essential gene?

Possibly essential (E-score: 0.592) question?

Stock #

R0547 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

27008680-27066717 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 27010184 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Histidine at position 267 (Y267H)

Ref Sequence

ENSEMBL: ENSMUSP00000034472 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000034472] [ENSMUST00000073127] [ENSMUST00000086198] [ENSMUST00000216677]

AlphaFold

Q9D8B7

Predicted Effect

probably damaging
Transcript: ENSMUST00000034472
AA Change: Y267H

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000034472
Gene: ENSMUSG00000031990
AA Change: Y267H

Domain	Start	End	E-Value	Type
signal peptide	1	31	N/A	INTRINSIC
IG	38	136	2.7e-9	SMART
IGc2	151	226	8.12e-13	SMART
transmembrane domain	245	267	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000073127

SMART Domains

Protein: ENSMUSP00000072871
Gene: ENSMUSG00000035024

Domain	Start	End	E-Value	Type
low complexity region	159	170	N/A	INTRINSIC
low complexity region	173	184	N/A	INTRINSIC
Pfam:Cnd1	949	1148	1.7e-46	PFAM
low complexity region	1192	1200	N/A	INTRINSIC
coiled coil region	1213	1270	N/A	INTRINSIC
low complexity region	1290	1315	N/A	INTRINSIC
low complexity region	1393	1410	N/A	INTRINSIC
low complexity region	1485	1498	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000086198

SMART Domains

Protein: ENSMUSP00000083374
Gene: ENSMUSG00000035024

Domain	Start	End	E-Value	Type
low complexity region	159	170	N/A	INTRINSIC
low complexity region	173	184	N/A	INTRINSIC
Pfam:Cohesin_HEAT	536	560	4.6e-5	PFAM
Pfam:Cnd1	949	1148	6.6e-59	PFAM
low complexity region	1192	1200	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000167074

SMART Domains

Protein: ENSMUSP00000128003
Gene: ENSMUSG00000031990

Domain	Start	End	E-Value	Type
low complexity region	3	15	N/A	INTRINSIC
low complexity region	18	24	N/A	INTRINSIC
IG	38	136	2.7e-9	SMART
Pfam:C2-set_2	138	206	4.8e-7	PFAM
Pfam:Ig_3	139	206	7.1e-5	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000213170

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000214432

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000215446

Predicted Effect

probably benign
Transcript: ENSMUST00000216677

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000217654

Meta Mutation Damage Score

0.1971

Coding Region Coverage

1x: 99.2%
3x: 98.5%
10x: 96.8%
20x: 94.3%

Validation Efficiency

98% (57/58)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Tight junctions represent one mode of cell-to-cell adhesion in epithelial or endothelial cell sheets, forming continuous seals around cells and serving as a physical barrier to prevent solutes and water from passing freely through the paracellular space. The protein encoded by this immunoglobulin superfamily gene member is localized in the tight junctions between high endothelial cells. Unlike other proteins in this family, the this protein is unable to adhere to leukocyte cell lines and only forms weak homotypic interactions. The encoded protein is a member of the junctional adhesion molecule protein family and acts as a receptor for another member of this family. A mutation in an intron of this gene is associated with hemorrhagic destruction of the brain, subependymal calcification, and congenital cataracts. Alternative splicing results in multiple transcript variants.[provided by RefSeq, Apr 2011]
PHENOTYPE: Approximately 60% of mice homozygous for a targeted mutation exhibit postnatal lethality. Males are infertile and display small testes and arrested differentiation of round spermatids into spermatozoa, as shown by the absence of acrosomes, elongated nuclei, and morphological signs of polarization. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 58 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2310057N15Rik	A	G	16: 88,570,498 (GRCm39)	Y181H	probably benign	Het
A530084C06Rik	A	G	13: 31,742,813 (GRCm39)		probably benign	Het
Adamtsl1	A	G	4: 86,274,592 (GRCm39)	D1208G	probably benign	Het
Ankrd55	T	C	13: 112,504,757 (GRCm39)	F501S	probably benign	Het
Aox1	G	A	1: 58,349,201 (GRCm39)	D656N	probably damaging	Het
Atr	A	T	9: 95,781,218 (GRCm39)		probably benign	Het
Bicra	G	A	7: 15,706,173 (GRCm39)	R1423W	probably damaging	Het
Cabyr	T	A	18: 12,884,073 (GRCm39)	S187T	probably benign	Het
Car5b	G	A	X: 162,762,297 (GRCm39)	R282C	probably damaging	Het
Cdon	A	T	9: 35,368,794 (GRCm39)	T343S	possibly damaging	Het
Cep350	C	T	1: 155,777,181 (GRCm39)		probably null	Het
Cimap1a	A	G	7: 140,428,728 (GRCm39)		probably null	Het
Copa	T	C	1: 171,949,254 (GRCm39)		probably benign	Het
Cyp4f18	T	C	8: 72,749,854 (GRCm39)	D265G	probably benign	Het
Dgkb	T	A	12: 38,654,157 (GRCm39)	C759S	probably benign	Het
Dnah6	T	C	6: 73,021,757 (GRCm39)	M3470V	probably benign	Het
Eif4g2	T	C	7: 110,677,500 (GRCm39)	N177S	probably damaging	Het
Etfb	C	T	7: 43,104,002 (GRCm39)	Q145*	probably null	Het
Flnb	T	A	14: 7,912,943 (GRCm38)		probably null	Het
G430095P16Rik	G	A	8: 85,453,271 (GRCm39)		probably benign	Het
Gfral	A	T	9: 76,115,924 (GRCm39)	S17T	probably benign	Het
Gpr26	T	C	7: 131,586,026 (GRCm39)	I332T	probably benign	Het
Greb1	T	A	12: 16,773,412 (GRCm39)	T221S	probably benign	Het
Haus5	A	T	7: 30,358,508 (GRCm39)	S289T	probably damaging	Het
Ighv6-4	T	C	12: 114,370,221 (GRCm39)	Y77C	probably damaging	Het
Il23r	A	T	6: 67,400,685 (GRCm39)	D548E	probably benign	Het
Il23r	A	T	6: 67,463,235 (GRCm39)	F86Y	possibly damaging	Het
Inppl1	A	T	7: 101,480,210 (GRCm39)	M424K	probably benign	Het
Lrrc37	T	C	11: 103,510,990 (GRCm39)	N326S	unknown	Het
Mms19	A	T	19: 41,951,857 (GRCm39)	M160K	probably damaging	Het
Muc2	CGTG	CGTGTG	7: 141,699,185 (GRCm38)		probably null	Het
Mup5	A	G	4: 61,751,237 (GRCm39)	L137P	probably damaging	Het
Mylk	G	C	16: 34,699,845 (GRCm39)	E403Q	possibly damaging	Het
Ntrk2	G	A	13: 59,022,184 (GRCm39)	S413N	probably damaging	Het
Nuak2	C	A	1: 132,259,941 (GRCm39)	T573N	probably benign	Het
Or4m1	A	T	14: 50,557,575 (GRCm39)	I239K	probably benign	Het
Or52h9	G	A	7: 104,202,563 (GRCm39)	V146M	probably benign	Het
Padi4	GCTGCGTACCTCCAC	GC	4: 140,475,760 (GRCm39)		probably benign	Het
Pclo	T	A	5: 14,842,086 (GRCm39)	I4787N	unknown	Het
Pde8a	G	T	7: 80,973,878 (GRCm39)	V612L	probably benign	Het
Pear1	A	T	3: 87,696,107 (GRCm39)		probably null	Het
Pgbd1	A	G	13: 21,607,688 (GRCm39)	Y169H	probably damaging	Het
Pkd1l1	A	G	11: 8,786,448 (GRCm39)		probably benign	Het
Prkag3	C	T	1: 74,783,879 (GRCm39)		probably null	Het
Rsph9	A	T	17: 46,455,050 (GRCm39)	S9T	possibly damaging	Het
Rxfp1	A	T	3: 79,612,876 (GRCm39)		probably null	Het
Senp7	A	G	16: 55,996,189 (GRCm39)	E756G	probably damaging	Het
Serpina1e	G	T	12: 103,915,450 (GRCm39)	T252K	probably benign	Het
Sipa1l1	T	A	12: 82,484,510 (GRCm39)	S1555T	probably benign	Het
Slain1	T	C	14: 103,932,711 (GRCm39)	S432P	probably damaging	Het
Slc37a2	A	T	9: 37,144,418 (GRCm39)		probably null	Het
Thg1l	C	T	11: 45,845,018 (GRCm39)	R18Q	probably damaging	Het
Tnn	A	G	1: 159,943,907 (GRCm39)		probably benign	Het
Trim32	G	A	4: 65,531,491 (GRCm39)	R16Q	probably damaging	Het
Tshz3	A	G	7: 36,470,842 (GRCm39)	T944A	probably damaging	Het
Ttn	C	G	2: 76,684,774 (GRCm39)		probably benign	Het
Ythdc2	T	C	18: 44,973,331 (GRCm39)	S323P	possibly damaging	Het
Zfp827	A	G	8: 79,786,939 (GRCm39)	N35S	probably damaging	Het

Other mutations in Jam3

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00971:Jam3	APN	9	27,013,188 (GRCm39)	missense	probably damaging	1.00
IGL01311:Jam3	APN	9	27,010,019 (GRCm39)	missense	probably damaging	0.99
IGL01729:Jam3	APN	9	27,016,821 (GRCm39)	missense	probably damaging	1.00
IGL03233:Jam3	APN	9	27,013,217 (GRCm39)	missense	probably damaging	1.00
IGL03275:Jam3	APN	9	27,012,545 (GRCm39)	missense	probably damaging	0.99
R0267:Jam3	UTSW	9	27,017,701 (GRCm39)	missense	probably benign	0.01
R0899:Jam3	UTSW	9	27,010,253 (GRCm39)	missense	probably damaging	1.00
R1499:Jam3	UTSW	9	27,017,701 (GRCm39)	missense	possibly damaging	0.93
R3926:Jam3	UTSW	9	27,017,701 (GRCm39)	missense	possibly damaging	0.93
R4044:Jam3	UTSW	9	27,013,159 (GRCm39)	critical splice donor site	probably null
R4977:Jam3	UTSW	9	27,009,669 (GRCm39)	missense	probably damaging	0.96
R6527:Jam3	UTSW	9	27,066,640 (GRCm39)	missense	unknown
R6759:Jam3	UTSW	9	27,013,276 (GRCm39)	missense	probably benign	0.09
R7843:Jam3	UTSW	9	27,017,712 (GRCm39)	critical splice acceptor site	probably null
R8088:Jam3	UTSW	9	27,010,156 (GRCm39)	missense	probably benign	0.00
R9688:Jam3	UTSW	9	27,010,204 (GRCm39)	missense	probably benign	0.30
R9700:Jam3	UTSW	9	27,010,183 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- AACCCTGAGAGCCACAGAGTTTCC -3'
(R):5'- TAACGGGGCCAAGGTCCTTTGATG -3'

Sequencing Primer
(F):5'- ATACAGAGCACTAGGGTTTCTGC -3'
(R):5'- AAGGTCCTTTGATGGACCAC -3'

Posted On

2013-06-11