Mutagenetix > Incidental Mutation

Incidental Mutation 'R6797:Jaml'

533056

Institutional Source

Beutler Lab

Gene Symbol

Jaml

Ensembl Gene

ENSMUSG00000048534

Gene Name

junction adhesion molecule like

Synonyms

Amica1, LOC270152

MMRRC Submission

044910-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.051) question?

Stock #

R6797 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

44990481-45019832 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 45000058 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Cysteine to Arginine at position 77 (C77R)

Ref Sequence

ENSEMBL: ENSMUSP00000150449 (fasta)

Gene Model

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

AlphaFold

Q80UL9

Predicted Effect

probably damaging
Transcript: ENSMUST00000050020
AA Change: C119R

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

SMART Domains

Protein: ENSMUSP00000052033
Gene: ENSMUSG00000048534
AA Change: C119R

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: C119R

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000216426
AA Change: C77R

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

Coding Region Coverage

1x: 99.9%
3x: 99.7%
10x: 98.8%
20x: 96.8%

Validation Efficiency

100% (42/42)

Allele List at MGI

Other mutations in this stock

Total: 44 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Akr1c18	T	A	13: 4,195,276 (GRCm39)	I61L	probably benign	Het
Angptl2	T	C	2: 33,118,277 (GRCm39)	V17A	probably benign	Het
Casp14	T	C	10: 78,550,975 (GRCm39)	D70G	possibly damaging	Het
Cckbr	A	G	7: 105,083,773 (GRCm39)	M234V	possibly damaging	Het
Cd93	T	C	2: 148,284,044 (GRCm39)	N434S	probably benign	Het
Cenpe	A	T	3: 134,943,899 (GRCm39)	Q938L	possibly damaging	Het
Col6a3	A	C	1: 90,731,810 (GRCm39)	V1481G	probably damaging	Het
Dnah5	G	T	15: 28,233,384 (GRCm39)	E248*	probably null	Het
Dnah5	G	A	15: 28,451,609 (GRCm39)	R4349Q	probably damaging	Het
F11	A	G	8: 45,706,092 (GRCm39)	Y98H	probably benign	Het
Fen1	A	G	19: 10,178,067 (GRCm39)	F126L	probably benign	Het
Gpr146	G	A	5: 139,378,795 (GRCm39)	G199D	possibly damaging	Het
Gramd1b	A	G	9: 40,219,702 (GRCm39)	I324T	probably benign	Het
H2bc12	A	T	13: 22,220,259 (GRCm39)	N68I	probably benign	Het
Hivep1	C	A	13: 42,310,557 (GRCm39)	S932R	probably benign	Het
Hk3	A	T	13: 55,158,644 (GRCm39)		probably null	Het
Hspbp1	T	A	7: 4,663,781 (GRCm39)	M355L	possibly damaging	Het
Kmt2e	A	G	5: 23,687,505 (GRCm39)	N452D	possibly damaging	Het
Krt5	T	C	15: 101,621,076 (GRCm39)	Y57C	unknown	Het
Lipn	A	T	19: 34,058,160 (GRCm39)	M294L	probably benign	Het
Magel2	A	G	7: 62,029,907 (GRCm39)	E937G	unknown	Het
Med13l	G	A	5: 118,897,329 (GRCm39)		probably null	Het
Mrgprb8	G	A	7: 48,038,892 (GRCm39)	V188I	probably benign	Het
Ocln	T	C	13: 100,676,223 (GRCm39)	D90G	probably damaging	Het
Ofcc1	C	T	13: 40,241,423 (GRCm39)	R695Q	possibly damaging	Het
Or11h23	T	A	14: 50,948,563 (GRCm39)	Y259N	probably damaging	Het
Or52ab7	G	A	7: 102,978,328 (GRCm39)	V212I	probably benign	Het
Otogl	G	A	10: 107,612,978 (GRCm39)		silent	Het
Pak5	A	T	2: 135,939,454 (GRCm39)	H560Q	probably damaging	Het
Pigg	T	C	5: 108,480,694 (GRCm39)	S493P	probably damaging	Het
Ppp6r3	A	G	19: 3,564,719 (GRCm39)	W185R	probably damaging	Het
Rnd2	C	T	11: 101,359,825 (GRCm39)	L57F	probably damaging	Het
Sacs	T	A	14: 61,450,522 (GRCm39)	D4189E	probably damaging	Het
Serpinb9b	A	G	13: 33,213,467 (GRCm39)	N8S	possibly damaging	Het
Slit3	A	G	11: 35,524,779 (GRCm39)	T730A	possibly damaging	Het
Srgap3	A	T	6: 112,806,503 (GRCm39)	F53I	probably damaging	Het
Stc2	T	A	11: 31,315,351 (GRCm39)	K163*	probably null	Het
Tasor2	T	C	13: 3,626,769 (GRCm39)	I1060M	probably benign	Het
Tlk1	T	A	2: 70,568,770 (GRCm39)	K411*	probably null	Het
Ttc27	G	T	17: 75,036,883 (GRCm39)	L185F	probably benign	Het
Vmn2r102	C	T	17: 19,880,694 (GRCm39)	Q12*	probably null	Het
Vmn2r95	C	T	17: 18,672,551 (GRCm39)		probably benign	Het
Vopp1	A	G	6: 57,739,492 (GRCm39)	Y19H	possibly damaging	Het
Wdr64	T	A	1: 175,638,176 (GRCm39)		probably null	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
R8184:Jaml	UTSW	9	45,000,110 (GRCm39)	missense	probably damaging	1.00
R9642:Jaml	UTSW	9	45,000,116 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- CCAGAGTCCTAGGTCTTGTTCC -3'
(R):5'- TGAAGACTCGCCCTAAGGTG -3'

Sequencing Primer
(F):5'- GAGTCCTAGGTCTTGTTCCCTTCTTG -3'
(R):5'- GCCCTAAGGTGAGTACTTAGC -3'

Posted On

2018-08-29