Mutagenetix > Incidental Mutation

Incidental Mutation 'R5760:Jaml'

445251

Institutional Source

Beutler Lab

Gene Symbol

Jaml

Ensembl Gene

ENSMUSG00000048534

Gene Name

junction adhesion molecule like

Synonyms

Amica1, LOC270152

MMRRC Submission

043362-MU

Accession Numbers

Essential gene?

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

Stock #

R5760 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

44990481-45019832 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 45009052 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Methionine to Lysine at position 151 (M151K)

Ref Sequence

ENSEMBL: ENSMUSP00000150449 (fasta)

Gene Model

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

AlphaFold

Q80UL9

Predicted Effect

probably benign
Transcript: ENSMUST00000050020
AA Change: M193K

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000052033
Gene: ENSMUSG00000048534
AA Change: M193K

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 benign
Transcript: ENSMUST00000215880
AA Change: M193K

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000216333

Predicted Effect

probably benign
Transcript: ENSMUST00000216426
AA Change: M151K

PolyPhen 2 Score 0.024 (Sensitivity: 0.95; Specificity: 0.81)

Coding Region Coverage

1x: 99.5%
3x: 98.8%
10x: 97.3%
20x: 95.3%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 47 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930447A16Rik	T	C	15: 37,439,835 (GRCm39)		probably benign	Het
Abl2	C	T	1: 156,469,427 (GRCm39)	T793M	probably benign	Het
Accs	A	C	2: 93,676,105 (GRCm39)	L90R	probably damaging	Het
Ahnak	A	T	19: 8,990,926 (GRCm39)	D4070V	probably damaging	Het
Apbb2	A	G	5: 66,520,100 (GRCm39)	V475A	probably benign	Het
Atp10d	T	A	5: 72,418,280 (GRCm39)	V602E	probably benign	Het
Cdh23	C	T	10: 60,242,171 (GRCm39)	V1088M	probably damaging	Het
Dennd6a	A	T	14: 26,333,195 (GRCm39)	I144L	probably damaging	Het
Dnajc6	G	A	4: 101,475,839 (GRCm39)	A571T	probably benign	Het
Drap1	A	G	19: 5,474,391 (GRCm39)	I18T	probably damaging	Het
En2	C	A	5: 28,371,997 (GRCm39)	A158D	probably benign	Het
Fbn1	C	T	2: 125,203,167 (GRCm39)	G1219R	probably damaging	Het
Fkbpl	G	A	17: 34,864,303 (GRCm39)	A24T	probably benign	Het
Gm7535	C	T	17: 18,132,080 (GRCm39)		probably benign	Het
Hao2	A	T	3: 98,787,748 (GRCm39)	L227*	probably null	Het
Hdlbp	C	T	1: 93,368,499 (GRCm39)		probably benign	Het
Hivep3	A	G	4: 119,952,208 (GRCm39)	K175E	possibly damaging	Het
Hmcn2	G	A	2: 31,304,580 (GRCm39)	A3075T	possibly damaging	Het
Igkv6-15	A	T	6: 70,383,516 (GRCm39)	I95N	probably damaging	Het
Itgad	A	T	7: 127,802,537 (GRCm39)	Q1001L	probably benign	Het
Lix1	T	A	17: 17,647,499 (GRCm39)	V55D	possibly damaging	Het
Macf1	A	G	4: 123,407,677 (GRCm39)	S179P	probably damaging	Het
Matn2	T	A	15: 34,355,753 (GRCm39)	Q33L	possibly damaging	Het
Mcm3	CT	CTT	1: 20,878,972 (GRCm39)		probably null	Het
Mroh5	A	C	15: 73,693,356 (GRCm39)	I28S	probably damaging	Het
Naip5	T	G	13: 100,379,346 (GRCm39)	K231N	probably damaging	Het
Neb	A	C	2: 52,073,830 (GRCm39)	Y5683D	probably damaging	Het
Npc1l1	A	T	11: 6,179,031 (GRCm39)	H126Q	probably benign	Het
Npm2	A	G	14: 70,886,935 (GRCm39)	F110L	probably damaging	Het
Nsd3	A	T	8: 26,149,772 (GRCm39)	H319L	probably damaging	Het
Nup205	G	A	6: 35,224,278 (GRCm39)	R2039Q	probably damaging	Het
Or10j7	C	A	1: 173,011,318 (GRCm39)	A228S	probably benign	Het
Or6b2b	A	G	1: 92,418,922 (GRCm39)	L185P	possibly damaging	Het
Or7d10	A	C	9: 19,832,050 (GRCm39)	T182P	probably benign	Het
Pcdhac2	G	A	18: 37,279,453 (GRCm39)	G811E	probably damaging	Het
Pkhd1	T	A	1: 20,143,778 (GRCm39)	R3849S	probably benign	Het
Pmfbp1	A	T	8: 110,247,655 (GRCm39)	D317V	probably damaging	Het
Sall1	T	C	8: 89,755,278 (GRCm39)	N1234D	possibly damaging	Het
Slc12a7	T	A	13: 73,961,741 (GRCm39)	V1037D	probably damaging	Het
Slc12a8	G	T	16: 33,445,155 (GRCm39)	E404*	probably null	Het
Tchhl1	C	G	3: 93,378,863 (GRCm39)	S522R	probably damaging	Het
Tgif1	A	G	17: 71,151,996 (GRCm39)	V152A	probably damaging	Het
Tshz3	C	A	7: 36,470,994 (GRCm39)	H994Q	probably damaging	Het
Ubash3b	T	G	9: 40,988,719 (GRCm39)	K62T	probably benign	Het
Ushbp1	G	T	8: 71,840,012 (GRCm39)	D546E	probably damaging	Het
Zfp458	A	C	13: 67,405,853 (GRCm39)	C192W	probably damaging	Het
Zfp808	A	T	13: 62,319,740 (GRCm39)	H323L	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
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

Predicted Primers

PCR Primer
(F):5'- GTGTTGTACAAGTGCATATGAACA -3'
(R):5'- GCACAATGGTTTTCCTGGAC -3'

Sequencing Primer
(F):5'- ATGACTTAGCTCTATGGCCAAGG -3'
(R):5'- GACTCCAGCTTTCCCACGTAGATG -3'

Posted On

2016-11-21