Mutagenetix > Incidental Mutations

Incidental Mutation 'R6753:Jaml'

530902

Institutional Source

Beutler Lab

Gene Symbol

Jaml

Ensembl Gene

ENSMUSG00000048534

Gene Name

junction adhesion molecule like

Synonyms

LOC270152, Amica1

MMRRC Submission

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.065) question?

Stock #

R6753 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

45079183-45108534 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 45107379 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Aspartic acid at position 359 (N359D)

Ref Sequence

ENSEMBL: ENSMUSP00000150697 (fasta)

Gene Model

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

AlphaFold

Q80UL9

Predicted Effect

probably benign
Transcript: ENSMUST00000050020
AA Change: N359D

PolyPhen 2 Score 0.425 (Sensitivity: 0.89; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000052033
Gene: ENSMUSG00000048534
AA Change: N359D

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: ENSMUST00000215148

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000215266

Predicted Effect

probably benign
Transcript: ENSMUST00000215880
AA Change: N359D

PolyPhen 2 Score 0.425 (Sensitivity: 0.89; Specificity: 0.90)

Predicted Effect

unknown
Transcript: ENSMUST00000217074
AA Change: N92D

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000217151

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 99.9%
3x: 99.6%
10x: 98.3%
20x: 95.1%

Validation Efficiency

99% (68/69)

Allele List at MGI

Other mutations in this stock

Total: 64 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aatk	G	A	11: 120,010,151	P1083S	probably benign	Het
Abcb5	T	A	12: 118,944,906	N101I	possibly damaging	Het
Adrb2	A	G	18: 62,179,553	V67A	possibly damaging	Het
Agk	T	A	6: 40,368,570		probably null	Het
Akap10	A	T	11: 61,886,777	M586K	probably damaging	Het
Akt3	A	T	1: 177,050,190	Y337*	probably null	Het
Armc1	A	G	3: 19,144,398	F133L	possibly damaging	Het
Bank1	T	C	3: 136,093,308	E424G	probably damaging	Het
Cacna1a	A	G	8: 84,580,205	E1363G	probably damaging	Het
Cacna1d	C	A	14: 30,042,786	A2076S	probably damaging	Het
Ccdc73	T	A	2: 104,991,524	L606*	probably null	Het
Ccdc8	C	T	7: 16,996,637	Q684*	probably null	Het
Ces1b	T	A	8: 93,067,020	K314*	probably null	Het
Ces1e	T	A	8: 93,215,128	N238I	probably damaging	Het
Chd4	A	G	6: 125,114,300	N1238S	probably benign	Het
Cmtr2	T	A	8: 110,222,979	D640E	probably damaging	Het
Col7a1	C	T	9: 108,958,128	T559I	unknown	Het
Comt	T	C	16: 18,408,021	K205R	probably benign	Het
Dbp	A	T	7: 45,708,404	E232V	probably damaging	Het
Dcbld2	A	G	16: 58,456,130	T470A	possibly damaging	Het
Eml6	T	A	11: 29,754,987	D1519V	probably damaging	Het
Evpl	T	A	11: 116,237,906	H31L	possibly damaging	Het
Exoc1	T	A	5: 76,563,339	I86N	probably damaging	Het
Fat3	C	T	9: 15,915,061	E4532K	possibly damaging	Het
Fgfr3	T	C	5: 33,732,159	S301P	probably benign	Het
Gas2l1	C	T	11: 5,064,254	V69I	probably damaging	Het
Gm2042	T	A	12: 87,958,084	I107K	probably damaging	Het
Gucy1b1	T	C	3: 82,039,747	D385G	probably null	Het
Ints1	T	A	5: 139,765,175	E824D	probably damaging	Het
Itfg1	T	C	8: 85,835,078	D142G	probably benign	Het
Kcnh7	T	A	2: 62,850,377	I289L	probably benign	Het
Klf12	G	A	14: 100,109,776	Q40*	probably null	Het
Mcm4	A	C	16: 15,629,362	N579K	possibly damaging	Het
Mfsd2b	A	T	12: 4,867,358	F179I	possibly damaging	Het
Mmp11	C	T	10: 75,928,374	V86M	probably damaging	Het
Mogs	T	C	6: 83,115,882	V101A	probably damaging	Het
Narf	T	A	11: 121,242,626	H84Q	probably benign	Het
Olfr987	C	A	2: 85,331,798	M33I	probably benign	Het
Otog	A	C	7: 46,249,071	E204D	probably benign	Het
Parp8	G	A	13: 116,895,115	H354Y	possibly damaging	Het
Pcnx	C	A	12: 81,964,480	D1238E	probably damaging	Het
Pi4ka	A	G	16: 17,376,982	L184P	possibly damaging	Het
Pkd1l3	C	T	8: 109,624,449	T642I	probably damaging	Het
Pkhd1l1	G	A	15: 44,589,663	E3995K	probably benign	Het
Prdm9	A	T	17: 15,544,956	Y521N	probably benign	Het
Prex2	A	G	1: 11,184,456	S1105G	probably damaging	Het
Prss35	T	A	9: 86,756,100	F308I	probably damaging	Het
Rab22a	C	T	2: 173,701,055	A167V	probably benign	Het
Rims2	A	G	15: 39,566,973	Q871R	possibly damaging	Het
Rorb	A	T	19: 18,957,247	M253K	probably benign	Het
Ryr3	T	C	2: 112,652,610	D4269G	probably damaging	Het
Snx11	T	C	11: 96,769,906		probably benign	Het
Son	A	G	16: 91,657,188	Q941R	probably damaging	Het
Sptbn2	G	T	19: 4,747,785	R1880L	probably benign	Het
Sun1	G	A	5: 139,215,259		probably null	Het
Tprn	A	G	2: 25,264,038	R451G	probably benign	Het
Trbv30	T	A	6: 41,281,377	M1K	probably null	Het
Ttn	C	A	2: 76,738,221	G25697W	probably damaging	Het
Ubb	T	G	11: 62,551,527		probably null	Het
Unc13b	C	T	4: 43,239,331	R1038C	probably damaging	Het
Usp7	T	C	16: 8,696,911	M687V	probably benign	Het
Zfp160	G	A	17: 21,020,734	M21I	probably benign	Het
Zfp868	T	C	8: 69,612,096	N196S	probably benign	Het
Zufsp	A	T	10: 33,928,029	I483N	probably damaging	Het

Other mutations in Jaml

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00595:Jaml	APN	9	45100989	unclassified	probably benign
IGL00771:Jaml	APN	9	45093807	missense	possibly damaging	0.94
IGL01139:Jaml	APN	9	45101019	missense	possibly damaging	0.91
IGL02669:Jaml	APN	9	45104191	missense	possibly damaging	0.68
IGL03405:Jaml	APN	9	45093809	missense	possibly damaging	0.61
R0207:Jaml	UTSW	9	45093767	missense	probably benign	0.01
R1962:Jaml	UTSW	9	45104197	missense	possibly damaging	0.80
R2119:Jaml	UTSW	9	45101064	missense	probably damaging	1.00
R2120:Jaml	UTSW	9	45101064	missense	probably damaging	1.00
R2124:Jaml	UTSW	9	45101064	missense	probably damaging	1.00
R2358:Jaml	UTSW	9	45101063	missense	possibly damaging	0.95
R3917:Jaml	UTSW	9	45101151	unclassified	probably benign
R4801:Jaml	UTSW	9	45101064	missense	possibly damaging	0.57
R4802:Jaml	UTSW	9	45101064	missense	possibly damaging	0.57
R5224:Jaml	UTSW	9	45104266	missense	probably damaging	1.00
R5739:Jaml	UTSW	9	45088728	missense	probably damaging	1.00
R5760:Jaml	UTSW	9	45097754	missense	probably benign	0.02
R6033:Jaml	UTSW	9	45088710	missense	probably damaging	1.00
R6033:Jaml	UTSW	9	45088710	missense	probably damaging	1.00
R6174:Jaml	UTSW	9	45088773	missense	probably damaging	1.00
R6245:Jaml	UTSW	9	45097919	missense	probably damaging	1.00
R6797:Jaml	UTSW	9	45088760	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- TCACAGTGAAAGGCTGCTAC -3'
(R):5'- CGTCTTCAGCCTTTTGATGG -3'

Sequencing Primer
(F):5'- tgctaagccttatcccca -3'
(R):5'- GAAATTCCCCAAGGTGAC -3'

Posted On

2018-08-01