Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02669:Jaml'

302861

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 #

IGL02669

Quality Score

Status

Chromosome

Chromosomal Location

44990481-45019832 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to C at 45015489 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Lysine to Threonine at position 331 (K331T)

Ref Sequence

ENSEMBL: ENSMUSP00000150697 (fasta)

Gene Model

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

AlphaFold

Q80UL9

Predicted Effect

possibly damaging
Transcript: ENSMUST00000050020
AA Change: K331T

PolyPhen 2 Score 0.680 (Sensitivity: 0.86; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000052033
Gene: ENSMUSG00000048534
AA Change: K331T

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: ENSMUST00000098827

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000215098

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000215266

Predicted Effect

possibly damaging
Transcript: ENSMUST00000215880
AA Change: K331T

PolyPhen 2 Score 0.680 (Sensitivity: 0.86; Specificity: 0.92)

Predicted Effect

unknown
Transcript: ENSMUST00000217074
AA Change: K64T

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 46 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A930003A15Rik	T	A	16: 19,702,505 (GRCm39)		noncoding transcript	Het
Acap1	G	A	11: 69,785,421 (GRCm39)		probably benign	Het
Adam7	T	C	14: 68,745,343 (GRCm39)	Y627C	probably damaging	Het
Agrn	C	T	4: 156,259,018 (GRCm39)		probably benign	Het
Aoc1l2	A	G	6: 48,908,407 (GRCm39)	Y469C	probably damaging	Het
Bace2	T	C	16: 97,238,093 (GRCm39)	*515R	probably null	Het
Baiap3	C	T	17: 25,463,322 (GRCm39)	V958M	probably damaging	Het
Brms1l	A	T	12: 55,888,401 (GRCm39)	D63V	probably damaging	Het
Cnksr1	A	T	4: 133,957,774 (GRCm39)	I435N	probably damaging	Het
Col14a1	G	A	15: 55,282,178 (GRCm39)	G813E	unknown	Het
Cpne6	A	G	14: 55,751,283 (GRCm39)	N201S	probably benign	Het
Dnajc12	A	G	10: 63,233,071 (GRCm39)	S71G	probably damaging	Het
Dpp3	A	T	19: 4,973,710 (GRCm39)		probably null	Het
E2f3	A	G	13: 30,100,974 (GRCm39)	S239P	probably benign	Het
Eif3e	T	A	15: 43,146,088 (GRCm39)	M1L	probably benign	Het
Erap1	A	G	13: 74,823,987 (GRCm39)	T867A	probably benign	Het
Erlin1	G	T	19: 44,027,658 (GRCm39)	A260E	probably damaging	Het
Esrp1	A	G	4: 11,386,324 (GRCm39)	V38A	possibly damaging	Het
Foxn1	T	C	11: 78,261,986 (GRCm39)	R128G	probably damaging	Het
Gnb3	A	G	6: 124,814,688 (GRCm39)	L70P	probably benign	Het
Gon4l	T	C	3: 88,802,806 (GRCm39)	V1139A	probably damaging	Het
Gpt2	G	T	8: 86,249,908 (GRCm39)	M463I	probably benign	Het
Gtpbp3	C	A	8: 71,943,546 (GRCm39)	A201D	probably damaging	Het
Kntc1	G	A	5: 123,893,727 (GRCm39)		probably benign	Het
Ksr2	A	G	5: 117,693,446 (GRCm39)	K298R	probably damaging	Het
Mfge8	T	C	7: 78,795,429 (GRCm39)	D46G	probably benign	Het
Ncam2	T	A	16: 81,314,429 (GRCm39)	N468K	probably benign	Het
Nup88	A	G	11: 70,847,110 (GRCm39)	M300T	probably damaging	Het
Or4c118	T	A	2: 88,974,564 (GRCm39)	K268*	probably null	Het
Or4k48	A	T	2: 111,476,236 (GRCm39)	Y35*	probably null	Het
Or52b4	A	G	7: 102,184,868 (GRCm39)	M305V	probably benign	Het
Prdm1	A	T	10: 44,315,880 (GRCm39)	M752K	probably benign	Het
Prl3b1	A	T	13: 27,429,795 (GRCm39)	M78L	probably benign	Het
Ralgps2	T	C	1: 156,660,268 (GRCm39)	E268G	probably damaging	Het
Rgs11	G	A	17: 26,426,605 (GRCm39)	V279I	probably benign	Het
Slc4a5	A	G	6: 83,240,525 (GRCm39)	D279G	possibly damaging	Het
Tanc1	T	A	2: 59,630,330 (GRCm39)	I770K	probably damaging	Het
Tbl2	G	A	5: 135,181,852 (GRCm39)	R64H	probably damaging	Het
Tg	T	A	15: 66,620,575 (GRCm39)		probably benign	Het
Tmprss13	A	T	9: 45,243,824 (GRCm39)	I187F	probably benign	Het
Tubb3	T	C	8: 124,147,856 (GRCm39)	L263P	probably damaging	Het
Vmn2r109	T	G	17: 20,774,518 (GRCm39)	D279A	possibly damaging	Het
Vps33b	A	G	7: 79,925,786 (GRCm39)		probably benign	Het
Yeats2	A	G	16: 20,005,033 (GRCm39)	S338G	probably benign	Het
Zfp142	T	C	1: 74,610,432 (GRCm39)	Q1121R	probably benign	Het
Zic1	G	T	9: 91,246,486 (GRCm39)	H195Q	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
IGL01139:Jaml	APN	9	45,012,317 (GRCm39)	missense	possibly damaging	0.91
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

2015-04-16