Mutagenetix > Incidental Mutation

Incidental Mutation 'R9642:Jaml'

726078

Institutional Source

Beutler Lab

Gene Symbol

Jaml

Ensembl Gene

ENSMUSG00000048534

Gene Name

junction adhesion molecule like

Synonyms

Amica1, LOC270152

MMRRC Submission

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.054) question?

Stock #

R9642 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

44990481-45019832 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 45000116 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 138 (V138A)

Ref Sequence

ENSEMBL: ENSMUSP00000052033 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000050020] [ENSMUST00000215880] [ENSMUST00000216426]

AlphaFold

Q80UL9

PDB Structure

Crystal structure of the gammadelta T cell costimulatory receptor Junctional Adhesion Molecule-Like Protein, JAML [X-RAY DIFFRACTION]
Crystal structure of the complex of JAML and Coxsackie and Adenovirus receptor, CAR [X-RAY DIFFRACTION]
Crystal structure of JAML in complex with the stimulatory antibody HL4E10 [X-RAY DIFFRACTION]

Predicted Effect

probably damaging
Transcript: ENSMUST00000050020
AA Change: V138A

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

SMART Domains

Protein: ENSMUSP00000052033
Gene: ENSMUSG00000048534
AA Change: V138A

Domain	Start	End	E-Value	Type
signal peptide	1	20	N/A	INTRINSIC
IG	30	139	5.7e-8	SMART
IG	143	254	9.26e-8	SMART
low complexity region	293	304	N/A	INTRINSIC
low complexity region	309	320	N/A	INTRINSIC

Predicted Effect

probably damaging
Transcript: ENSMUST00000215880
AA Change: V138A

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000216426
AA Change: V96A

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

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 99.2%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 75 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4921524L21Rik	T	C	18: 6,619,412 (GRCm39)		probably null	Het
Aadacl3	A	G	4: 144,182,512 (GRCm39)	S319P	probably benign	Het
Abcc6	C	A	7: 45,639,765 (GRCm39)	D907Y	probably benign	Het
Apol7b	T	C	15: 77,308,103 (GRCm39)	S131G	probably benign	Het
Atg2a	C	T	19: 6,300,198 (GRCm39)	R669*	probably null	Het
Atr	T	A	9: 95,821,294 (GRCm39)	I2260N	probably damaging	Het
Bmper	T	A	9: 23,395,198 (GRCm39)	V643E	probably benign	Het
Cacna2d2	A	G	9: 107,392,627 (GRCm39)	I524V	possibly damaging	Het
Ccdc171	C	A	4: 83,599,525 (GRCm39)	A780E	probably benign	Het
Cdcp3	C	A	7: 130,848,257 (GRCm39)	Q688K	probably benign	Het
Cfhr2	A	G	1: 139,738,620 (GRCm39)	S314P	probably damaging	Het
Cops2	A	T	2: 125,682,410 (GRCm39)	D190E	probably benign	Het
Dmxl1	G	A	18: 50,013,825 (GRCm39)	G1538R	probably damaging	Het
Dyrk4	A	T	6: 126,893,253 (GRCm39)	V43E	probably benign	Het
Eif4a3l2	A	G	6: 116,528,350 (GRCm39)	R76G	probably damaging	Het
Enoph1	T	C	5: 100,188,115 (GRCm39)	I13T	possibly damaging	Het
Eya3	A	T	4: 132,426,374 (GRCm39)	I268F	probably damaging	Het
Ezh2	A	C	6: 47,521,453 (GRCm39)	M439R	probably benign	Het
Fam83c	T	C	2: 155,672,980 (GRCm39)	N259S	probably damaging	Het
Gbf1	A	T	19: 46,258,707 (GRCm39)	M963L	probably benign	Het
Ghr	A	T	15: 3,355,469 (GRCm39)	D271E	probably benign	Het
Gm40460	ACCCCCACAGGAGCCACAGCCTCCCTTGCAGCCCCCACAGGAGCCACAGCCTCCCTTGCAGCCCCCACAGGAGCCACAGCCTCCCTTGCAGCCCCCACAGGAGCCACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAG	ACCCCCACAGGAGCCACAGCCTCCCTTGCAGCCCCCACAGGAGCCACAGCCTCCCTTGCAGCCCCCACAGGAGCCACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAG	7: 141,794,450 (GRCm39)		probably benign	Het
Gtse1	T	A	15: 85,751,697 (GRCm39)	L297I	probably damaging	Het
Hecw1	T	A	13: 14,515,394 (GRCm39)	H246L	probably damaging	Het
Hmox1	G	A	8: 75,823,881 (GRCm39)	R183H	possibly damaging	Het
Ifi202b	A	T	1: 173,799,850 (GRCm39)	Y210*	probably null	Het
Ighv1-76	A	T	12: 115,811,918 (GRCm39)	I6N	possibly damaging	Het
Ildr1	T	A	16: 36,536,490 (GRCm39)	I173N	probably damaging	Het
Kmt2b	A	T	7: 30,283,340 (GRCm39)		probably null	Het
Krt87	T	C	15: 101,385,074 (GRCm39)	N341D	probably benign	Het
Map3k20	T	C	2: 72,272,181 (GRCm39)	W770R	probably damaging	Het
Mast2	A	G	4: 116,170,966 (GRCm39)	I667T	probably damaging	Het
Mdp1	T	C	14: 55,896,933 (GRCm39)	T71A	probably damaging	Het
Muc5ac	A	T	7: 141,349,601 (GRCm39)	T505S	possibly damaging	Het
Mx1	A	G	16: 97,256,376 (GRCm39)	V181A	probably damaging	Het
Myo15b	A	G	11: 115,772,335 (GRCm39)	E83G	possibly damaging	Het
Ncam2	A	T	16: 81,418,251 (GRCm39)	I769L	probably benign	Het
Notum	T	C	11: 120,550,980 (GRCm39)	D62G	probably damaging	Het
Or4c124	A	T	2: 89,155,907 (GRCm39)	C206S	possibly damaging	Het
Or5ac22	A	T	16: 59,135,610 (GRCm39)	H53Q	possibly damaging	Het
Or7a39	C	T	10: 78,715,395 (GRCm39)	P130S	probably damaging	Het
Or8g32	T	C	9: 39,305,857 (GRCm39)	S254P	probably damaging	Het
P2rx2	A	G	5: 110,489,878 (GRCm39)	S196P	possibly damaging	Het
Pcdh7	A	T	5: 57,876,717 (GRCm39)	I91F	probably damaging	Het
Peak1	A	G	9: 56,167,205 (GRCm39)	V241A	probably benign	Het
Ppl	C	A	16: 4,915,602 (GRCm39)	R623S	probably benign	Het
Prkaca	A	G	8: 84,717,088 (GRCm39)	I151V	probably benign	Het
Psmb11	A	T	14: 54,863,295 (GRCm39)	Q171L	probably benign	Het
Rab3gap2	T	G	1: 184,967,692 (GRCm39)	F166V	probably benign	Het
Rab7	G	A	6: 87,981,187 (GRCm39)	A165V	probably damaging	Het
Ranbp2	T	C	10: 58,318,907 (GRCm39)	Y2473H	probably damaging	Het
Runx3	A	G	4: 134,848,341 (GRCm39)		probably benign	Het
Sh3bp5l	T	A	11: 58,237,085 (GRCm39)	C347*	probably null	Het
Smc5	A	G	19: 23,238,752 (GRCm39)	M208T	probably damaging	Het
Stk11ip	T	C	1: 75,510,899 (GRCm39)		probably null	Het
Tas2r136	A	T	6: 132,754,462 (GRCm39)	C222S	probably benign	Het
Themis2	A	G	4: 132,513,047 (GRCm39)	V393A	possibly damaging	Het
Tln2	A	C	9: 67,157,826 (GRCm39)	V1171G	probably benign	Het
Tmem63a	T	C	1: 180,776,393 (GRCm39)	F68L	probably damaging	Het
Tpst1	T	A	5: 130,130,959 (GRCm39)	L143Q	probably damaging	Het
Trp63	C	A	16: 25,682,508 (GRCm39)	Q284K	probably benign	Het
Ttc17	T	C	2: 94,194,735 (GRCm39)	E546G	probably benign	Het
Ttn	A	G	2: 76,804,570 (GRCm39)	I234T	unknown	Het
Upp1	A	G	11: 9,085,206 (GRCm39)	K231R	probably benign	Het
Uso1	T	A	5: 92,285,967 (GRCm39)	L4H	probably damaging	Het
Vmn1r9	T	A	6: 57,048,216 (GRCm39)	L97Q	probably damaging	Het
Vmn2r107	T	C	17: 20,580,661 (GRCm39)	C533R	probably damaging	Het
Vps35l	C	A	7: 118,437,451 (GRCm39)	D909E	probably benign	Het
Wdr90	A	G	17: 26,072,694 (GRCm39)		probably null	Het
Ydjc	A	G	16: 16,966,073 (GRCm39)	H219R	probably benign	Het
Ykt6	T	C	11: 5,905,917 (GRCm39)	L6P	probably damaging	Het
Zfp236	A	G	18: 82,622,384 (GRCm39)	V1682A	probably benign	Het
Zfp35	C	T	18: 24,137,155 (GRCm39)	Q500*	probably null	Het
Zfp780b	T	A	7: 27,664,135 (GRCm39)	D140V	probably benign	Het
Zyg11b	T	C	4: 108,117,185 (GRCm39)	T352A	probably damaging	Het

Other mutations in Jaml

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00595:Jaml	APN	9	45,012,287 (GRCm39)	unclassified	probably benign
IGL00771:Jaml	APN	9	45,005,105 (GRCm39)	missense	possibly damaging	0.94
IGL01139:Jaml	APN	9	45,012,317 (GRCm39)	missense	possibly damaging	0.91
IGL02669:Jaml	APN	9	45,015,489 (GRCm39)	missense	possibly damaging	0.68
IGL03405:Jaml	APN	9	45,005,107 (GRCm39)	missense	possibly damaging	0.61
R0207:Jaml	UTSW	9	45,005,065 (GRCm39)	missense	probably benign	0.01
R1962:Jaml	UTSW	9	45,015,495 (GRCm39)	missense	possibly damaging	0.80
R2119:Jaml	UTSW	9	45,012,362 (GRCm39)	missense	probably damaging	1.00
R2120:Jaml	UTSW	9	45,012,362 (GRCm39)	missense	probably damaging	1.00
R2124:Jaml	UTSW	9	45,012,362 (GRCm39)	missense	probably damaging	1.00
R2358:Jaml	UTSW	9	45,012,361 (GRCm39)	missense	possibly damaging	0.95
R3917:Jaml	UTSW	9	45,012,449 (GRCm39)	unclassified	probably benign
R4801:Jaml	UTSW	9	45,012,362 (GRCm39)	missense	possibly damaging	0.57
R4802:Jaml	UTSW	9	45,012,362 (GRCm39)	missense	possibly damaging	0.57
R5224:Jaml	UTSW	9	45,015,564 (GRCm39)	missense	probably damaging	1.00
R5739:Jaml	UTSW	9	45,000,026 (GRCm39)	missense	probably damaging	1.00
R5760:Jaml	UTSW	9	45,009,052 (GRCm39)	missense	probably benign	0.02
R6033:Jaml	UTSW	9	45,000,008 (GRCm39)	missense	probably damaging	1.00
R6033:Jaml	UTSW	9	45,000,008 (GRCm39)	missense	probably damaging	1.00
R6174:Jaml	UTSW	9	45,000,071 (GRCm39)	missense	probably damaging	1.00
R6245:Jaml	UTSW	9	45,009,217 (GRCm39)	missense	probably damaging	1.00
R6753:Jaml	UTSW	9	45,018,677 (GRCm39)	missense	probably benign	0.43
R6797:Jaml	UTSW	9	45,000,058 (GRCm39)	missense	probably damaging	1.00
R8184:Jaml	UTSW	9	45,000,110 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- TACTATTCCAACCTTAGCGTGC -3'
(R):5'- TGGAAGGACAATACAAGCTTCCC -3'

Sequencing Primer
(F):5'- CCTACGGGGCGCTTCCAG -3'
(R):5'- AATACAAGCTTCCCAGGGGTTCTG -3'

Posted On

2022-09-12