Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01139:Jaml'

51998

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Jaml

Ensembl Gene

ENSMUSG00000048534

Gene Name

junction adhesion molecule like

Synonyms

Amica1, LOC270152

Accession Numbers

Essential gene?

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

Stock #

IGL01139

Quality Score

Status

Chromosome

Chromosomal Location

44990481-45019832 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to A at 45012317 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Asparagine at position 268 (T268N)

Ref Sequence

ENSEMBL: ENSMUSP00000150697 (fasta)

Gene Model

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

AlphaFold

Q80UL9

Predicted Effect

possibly damaging
Transcript: ENSMUST00000050020
AA Change: T268N

PolyPhen 2 Score 0.914 (Sensitivity: 0.81; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000052033
Gene: ENSMUSG00000048534
AA Change: T268N

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

noncoding transcript
Transcript: ENSMUST00000215098

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000215266

Predicted Effect

possibly damaging
Transcript: ENSMUST00000215880
AA Change: T268N

PolyPhen 2 Score 0.914 (Sensitivity: 0.81; Specificity: 0.94)

Predicted Effect

probably benign
Transcript: ENSMUST00000216426

Predicted Effect

probably benign
Transcript: ENSMUST00000217074

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 47 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aadacl4fm5	A	T	4: 144,504,259 (GRCm39)	Y297*	probably null	Het
Actr3	A	T	1: 125,333,622 (GRCm39)	I215N	probably damaging	Het
Ambn	C	T	5: 88,612,376 (GRCm39)		probably benign	Het
Arhgef1	T	A	7: 24,625,376 (GRCm39)		probably benign	Het
Arid1a	A	C	4: 133,421,308 (GRCm39)	S832R	unknown	Het
Clca4a	A	T	3: 144,672,030 (GRCm39)	I304N	probably damaging	Het
Dmxl2	G	A	9: 54,366,248 (GRCm39)	P274S	probably damaging	Het
Eif4enif1	T	A	11: 3,171,143 (GRCm39)	D211E	probably damaging	Het
Eri2	A	G	7: 119,385,960 (GRCm39)		probably null	Het
Fhod3	C	T	18: 25,199,401 (GRCm39)	P691S	probably benign	Het
Flnb	A	G	14: 7,945,989 (GRCm38)	S2465G	probably damaging	Het
Ftsj1	G	A	X: 8,112,831 (GRCm39)	R171C	probably damaging	Het
Glb1l3	G	A	9: 26,729,523 (GRCm39)	T648I	probably benign	Het
Gm4222	T	A	2: 89,978,889 (GRCm39)		probably benign	Het
Gm5475	G	A	15: 100,322,096 (GRCm39)		probably benign	Het
Kank3	G	A	17: 34,036,375 (GRCm39)	G81E	probably damaging	Het
Lrba	A	G	3: 86,549,969 (GRCm39)	T217A	possibly damaging	Het
Ltn1	A	G	16: 87,212,897 (GRCm39)	S555P	probably benign	Het
Map3k15	T	A	X: 158,855,875 (GRCm39)	M350K	probably damaging	Het
Mipol1	C	A	12: 57,352,821 (GRCm39)	Y53*	probably null	Het
Mn1	A	G	5: 111,569,315 (GRCm39)	D1095G	probably damaging	Het
Myh14	T	C	7: 44,255,716 (GRCm39)		probably benign	Het
Nrn1	A	G	13: 36,914,190 (GRCm39)	C31R	probably damaging	Het
Nup210	A	T	6: 91,007,079 (GRCm39)	L579H	possibly damaging	Het
Nxf2	T	C	X: 133,851,145 (GRCm39)	I578V	probably benign	Het
Obscn	G	A	11: 58,969,178 (GRCm39)	A172V	probably damaging	Het
Or10h1b	T	A	17: 33,395,756 (GRCm39)	Y123N	probably damaging	Het
Or9g4	T	G	2: 85,504,841 (GRCm39)	Y218S	probably damaging	Het
Phtf1	A	G	3: 103,912,918 (GRCm39)	D748G	probably damaging	Het
Psd3	A	T	8: 68,361,187 (GRCm39)	Y863N	probably damaging	Het
Psmc6	C	T	14: 45,581,167 (GRCm39)	T321I	probably benign	Het
Rassf6	T	C	5: 90,756,825 (GRCm39)	*31W	probably null	Het
Rictor	A	C	15: 6,807,749 (GRCm39)	K791Q	probably damaging	Het
Slc12a9	C	T	5: 137,321,104 (GRCm39)	M470I	probably damaging	Het
Tex28	A	T	X: 73,194,830 (GRCm39)	M367K	possibly damaging	Het
Thnsl2	A	T	6: 71,115,718 (GRCm39)	V163D	probably damaging	Het
Tmco3	G	A	8: 13,369,887 (GRCm39)	R633Q	possibly damaging	Het
Trf	A	T	9: 103,100,803 (GRCm39)	V224D	probably damaging	Het
Ttc8	C	T	12: 98,930,804 (GRCm39)	Q273*	probably null	Het
Usp9x	A	G	X: 12,970,815 (GRCm39)		probably benign	Het
Vmn2r117	A	G	17: 23,696,778 (GRCm39)	W210R	probably damaging	Het
Vmn2r5	A	G	3: 64,398,826 (GRCm39)	S718P	probably benign	Het
Vps13a	T	C	19: 16,617,989 (GRCm39)	D2932G	probably damaging	Het
Whamm	T	C	7: 81,245,662 (GRCm39)	L706P	probably damaging	Het
Yeats2	G	A	16: 20,033,143 (GRCm39)	V45I	probably damaging	Het
Yipf3	G	A	17: 46,561,383 (GRCm39)		probably null	Het
Zeb1	T	C	18: 5,705,061 (GRCm39)	V26A	possibly 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
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
R9642:Jaml	UTSW	9	45,000,116 (GRCm39)	missense	probably damaging	1.00

Posted On

2013-06-21