Mutagenetix > Incidental Mutation

Incidental Mutation 'R9688:Jam3'

728986

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

Accession Numbers

Essential gene?

Possibly essential (E-score: 0.592) question?

Stock #

R9688 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

27008680-27066717 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 27010204 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Methionine at position 260 (T260M)

Ref Sequence

ENSEMBL: ENSMUSP00000034472 (fasta)

Gene Model

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

AlphaFold

Q9D8B7

Predicted Effect

probably benign
Transcript: ENSMUST00000034472
AA Change: T260M

PolyPhen 2 Score 0.304 (Sensitivity: 0.90; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000034472
Gene: ENSMUSG00000031990
AA Change: T260M

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

probably benign
Transcript: ENSMUST00000216677

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.8%
20x: 99.3%

Validation Efficiency

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: 69 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700093K21Rik	A	G	11: 23,469,067 (GRCm39)		probably null	Het
Abca2	G	C	2: 25,324,459 (GRCm39)	A272P	possibly damaging	Het
Adarb1	T	A	10: 77,147,099 (GRCm39)	D479V	probably damaging	Het
Amz2	T	C	11: 109,320,765 (GRCm39)	F162S	probably damaging	Het
Ano4	A	T	10: 89,180,506 (GRCm39)	M1K	probably null	Het
Antxr1	G	A	6: 87,114,334 (GRCm39)	R478C	probably damaging	Het
Apobr	T	C	7: 126,186,663 (GRCm39)	S725P	probably benign	Het
Arap2	A	T	5: 62,872,109 (GRCm39)	D506E	probably damaging	Het
Ash1l	T	G	3: 88,892,024 (GRCm39)	I1301S	probably damaging	Het
Camk1g	T	A	1: 193,031,029 (GRCm39)	R305W	probably damaging	Het
Ces2g	A	T	8: 105,691,304 (GRCm39)	I147F	probably benign	Het
Cfap61	T	C	2: 145,878,758 (GRCm39)	F505L	probably damaging	Het
Cndp1	G	C	18: 84,655,982 (GRCm39)	N62K	probably benign	Het
Cog6	G	T	3: 52,916,528 (GRCm39)	Q214K	probably benign	Het
Depdc5	T	A	5: 33,055,276 (GRCm39)	Y226*	probably null	Het
Elp5	T	A	11: 69,861,425 (GRCm39)	I185F	probably damaging	Het
Ercc6	A	C	14: 32,297,755 (GRCm39)	H1334P	probably benign	Het
Ern1	T	C	11: 106,349,836 (GRCm39)	T27A	possibly damaging	Het
Esf1	A	T	2: 140,010,095 (GRCm39)	D80E	probably damaging	Het
Evpl	T	C	11: 116,124,986 (GRCm39)	K159E	probably damaging	Het
Gbx1	T	C	5: 24,731,510 (GRCm39)	Y102C	probably damaging	Het
Gjd2	A	G	2: 113,842,109 (GRCm39)	S123P	probably benign	Het
H2-M11	A	G	17: 36,859,054 (GRCm39)	Y198C	probably damaging	Het
Hps1	A	C	19: 42,755,147 (GRCm39)	V265G	probably benign	Het
Ifna16	C	A	4: 88,594,874 (GRCm39)	E74*	probably null	Het
Inca1	C	T	11: 70,579,810 (GRCm39)		probably null	Het
Jag2	A	G	12: 112,872,564 (GRCm39)	V1230A	probably benign	Het
Klhl5	A	T	5: 65,321,930 (GRCm39)	D652V	probably damaging	Het
L3mbtl1	A	T	2: 162,790,697 (GRCm39)	I81L	possibly damaging	Het
Lgalsl	C	T	11: 20,779,442 (GRCm39)	A68T	probably benign	Het
Map3k14	T	A	11: 103,130,059 (GRCm39)	D286V	possibly damaging	Het
Mdn1	A	G	4: 32,745,590 (GRCm39)	I4083V	probably damaging	Het
Ms4a5	T	C	19: 11,254,058 (GRCm39)	I136M	possibly damaging	Het
Mtcl3	T	C	10: 29,072,691 (GRCm39)	V661A	possibly damaging	Het
Naa16	A	T	14: 79,573,309 (GRCm39)	Y820*	probably null	Het
Nbea	G	T	3: 55,557,165 (GRCm39)	N2537K	probably benign	Het
Ncapd3	A	G	9: 26,967,349 (GRCm39)	S562G	probably benign	Het
Or5t5	A	C	2: 86,617,005 (GRCm39)	K310N	probably damaging	Het
Or6c1b	C	A	10: 129,272,967 (GRCm39)	C95*	probably null	Het
Pcdhac2	A	G	18: 37,277,628 (GRCm39)	S203G	probably benign	Het
Pds5a	A	T	5: 65,812,196 (GRCm39)	F309I	probably benign	Het
Pdzd8	G	A	19: 59,333,683 (GRCm39)	L113F	probably benign	Het
Pex12	T	C	11: 83,189,257 (GRCm39)	Y4C	possibly damaging	Het
Ppfibp2	A	G	7: 107,318,448 (GRCm39)	D332G	probably benign	Het
Psg23	A	T	7: 18,344,547 (GRCm39)	W303R	probably damaging	Het
Pyy	T	A	11: 101,998,099 (GRCm39)	D27V	probably damaging	Het
Rc3h1	A	G	1: 160,770,234 (GRCm39)	Q302R	probably damaging	Het
Rhoh	A	G	5: 66,049,656 (GRCm39)		probably benign	Het
Samd9l	A	G	6: 3,377,087 (GRCm39)	M58T	probably damaging	Het
Scaf11	A	C	15: 96,313,808 (GRCm39)	H1324Q	probably damaging	Het
Serinc2	C	A	4: 130,158,133 (GRCm39)	A105S	probably damaging	Het
Setx	A	T	2: 29,036,328 (GRCm39)	S938C	probably damaging	Het
Sgo2a	A	T	1: 58,056,737 (GRCm39)	T974S	probably damaging	Het
Sh3rf1	T	C	8: 61,679,348 (GRCm39)	V130A	probably benign	Het
Slc43a2	T	C	11: 75,434,112 (GRCm39)	F97L	probably damaging	Het
Slc9a9	C	A	9: 95,111,107 (GRCm39)	Q642K	probably benign	Het
Sox6	G	T	7: 115,076,225 (GRCm39)	D804E	probably benign	Het
Tbx15	A	T	3: 99,233,708 (GRCm39)	R290S	possibly damaging	Het
Tent4a	A	G	13: 69,655,199 (GRCm39)	L425P	probably damaging	Het
Terf2	A	G	8: 107,821,543 (GRCm39)	S176P	probably damaging	Het
Ttc6	A	T	12: 57,720,602 (GRCm39)	H956L	possibly damaging	Het
Tti2	T	C	8: 31,644,279 (GRCm39)	V292A	probably damaging	Het
Vmn1r29	A	T	6: 58,284,739 (GRCm39)	E153V	probably benign	Het
Vmn1r55	G	T	7: 5,149,669 (GRCm39)	H251Q	probably benign	Het
Yeats4	T	C	10: 117,051,586 (GRCm39)	T224A	probably benign	Het
Yipf4	T	A	17: 74,806,078 (GRCm39)	F239Y	probably benign	Het
Zan	T	C	5: 137,466,717 (GRCm39)	D380G	probably damaging	Het
Zbtb9	T	C	17: 27,193,894 (GRCm39)	F433S	probably damaging	Het
Zic5	T	C	14: 122,701,435 (GRCm39)	K432R	unknown	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
R0547:Jam3	UTSW	9	27,010,184 (GRCm39)	missense	probably damaging	1.00
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
R9700:Jam3	UTSW	9	27,010,183 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- AACACCGTCATGCTTCCCTG -3'
(R):5'- TACCCAGAGAGATGTTAATGGGTC -3'

Sequencing Primer
(F):5'- ATGCTTCCCTGGGCTCTTATAG -3'
(R):5'- CAGAGAGATGTTAATGGGTCAGTTTC -3'

Posted On

2022-10-06