Mutagenetix > Incidental Mutations

Incidental Mutation 'R0036:Jakmip1'

15654

Institutional Source

Beutler Lab

Gene Symbol

Jakmip1

Ensembl Gene

ENSMUSG00000113373

Gene Name

Synonyms

Gababrbp, C330021K24Rik, Marlin-1, 5830437M04Rik

MMRRC Submission

038330-MU

Accession Numbers

Is this an essential gene?

Possibly non essential (E-score: 0.275) question?

Stock #

R0036 (G1)

Quality Score

Status

Validated

Chromosome

Chromosomal Location

37113784-37117473 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 37134304 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Lysine to Arginine at position 514 (K514R)

Ref Sequence

ENSEMBL: ENSMUSP00000134288 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000121010] [ENSMUST00000174629] [ENSMUST00000232332]

AlphaFold

no structure available at present

Predicted Effect

probably null
Transcript: ENSMUST00000121010
AA Change: K699R

PolyPhen 2 Score 0.196 (Sensitivity: 0.92; Specificity: 0.87)

SMART Domains

Protein: ENSMUSP00000113624
Gene: ENSMUSG00000063646
AA Change: K699R

Domain	Start	End	E-Value	Type
coiled coil region	13	101	N/A	INTRINSIC
coiled coil region	133	227	N/A	INTRINSIC
coiled coil region	284	377	N/A	INTRINSIC
Pfam:JAKMIP_CC3	415	612	3.3e-85	PFAM
coiled coil region	678	819	N/A	INTRINSIC

Predicted Effect

probably null
Transcript: ENSMUST00000174629
AA Change: K514R

PolyPhen 2 Score 0.383 (Sensitivity: 0.90; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000134288
Gene: ENSMUSG00000063646
AA Change: K514R

Domain	Start	End	E-Value	Type
coiled coil region	13	52	N/A	INTRINSIC
coiled coil region	119	212	N/A	INTRINSIC
low complexity region	282	302	N/A	INTRINSIC
coiled coil region	330	422	N/A	INTRINSIC
coiled coil region	493	634	N/A	INTRINSIC

Predicted Effect

probably null
Transcript: ENSMUST00000232332
AA Change: K699R

PolyPhen 2 Score 0.196 (Sensitivity: 0.92; Specificity: 0.87)

Meta Mutation Damage Score

0.0997

Coding Region Coverage

1x: 79.1%
3x: 69.3%
10x: 43.3%
20x: 23.5%

Validation Efficiency

91% (49/54)

MGI Phenotype

PHENOTYPE: Homozygous mutation of this gene results in social deficits, stereotyped activity, abnormal postnatal vocalizations, reduced anxiety/increased impulsivity and glutamatergic NMDAR signaling deficits. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 17 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700028P14Rik	A	T	19: 23,616,568		probably benign	Het
Cfap44	A	G	16: 44,439,069	E1098G	possibly damaging	Het
Ctsq	C	T	13: 61,037,671		probably null	Het
Dock9	C	T	14: 121,622,853	V886M	probably damaging	Het
Eaf2	T	C	16: 36,800,658	Y224C	probably benign	Het
Eif5b	T	A	1: 38,019,111	S165T	probably benign	Het
Eln	A	G	5: 134,711,060		probably null	Het
Myo1e	T	A	9: 70,341,308	W435R	probably damaging	Het
Nadsyn1	T	C	7: 143,811,291	I226V	probably benign	Het
Nedd4l	T	C	18: 65,051,123		probably benign	Het
Phrf1	T	C	7: 141,261,780	M1435T	probably damaging	Het
Ppic	A	T	18: 53,409,192	I148N	probably damaging	Het
Sdr16c6	C	A	4: 4,063,335		probably benign	Het
Sgo2a	T	C	1: 58,015,628	S324P	probably benign	Het
Slf1	G	T	13: 77,100,951	Q373K	probably benign	Het
Tfg	G	T	16: 56,690,995	Q324K	probably benign	Het
Wdr64	G	T	1: 175,728,930	G248*	probably null	Het

Other mutations in Jakmip1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01015:Jakmip1	APN	5	37085406	nonsense	probably null
IGL01350:Jakmip1	APN	5	37085431	missense	probably benign	0.01
IGL01613:Jakmip1	APN	5	37100768	missense	probably damaging	1.00
IGL01875:Jakmip1	APN	5	37120980	missense	probably damaging	0.99
IGL02006:Jakmip1	APN	5	37120987	missense	probably damaging	0.99
IGL02225:Jakmip1	APN	5	37104856	missense	probably damaging	0.99
IGL02389:Jakmip1	APN	5	37100843	nonsense	probably null
R0194:Jakmip1	UTSW	5	37134283	missense	possibly damaging	0.77
R0442:Jakmip1	UTSW	5	37135553	splice site	probably null
R0555:Jakmip1	UTSW	5	37118873	missense	probably damaging	0.99
R1053:Jakmip1	UTSW	5	37134249	missense	possibly damaging	0.59
R1158:Jakmip1	UTSW	5	37091128	missense	possibly damaging	0.94
R1470:Jakmip1	UTSW	5	37100838	missense	probably damaging	1.00
R1470:Jakmip1	UTSW	5	37100838	missense	probably damaging	1.00
R2339:Jakmip1	UTSW	5	37091199	missense	probably benign	0.05
R2397:Jakmip1	UTSW	5	37100743	missense	probably damaging	0.99
R2425:Jakmip1	UTSW	5	37141805	nonsense	probably null
R2973:Jakmip1	UTSW	5	37091527	missense	probably damaging	1.00
R4758:Jakmip1	UTSW	5	37128622	missense	probably damaging	0.99
R4918:Jakmip1	UTSW	5	37091275	missense	probably damaging	1.00
R5212:Jakmip1	UTSW	5	37104901	missense	probably benign	0.05
R5842:Jakmip1	UTSW	5	37107268	missense	probably damaging	1.00
R5926:Jakmip1	UTSW	5	37085280	unclassified	probably benign
R6258:Jakmip1	UTSW	5	37141760	nonsense	probably null
R6776:Jakmip1	UTSW	5	37187154	missense	probably damaging	0.97
R6880:Jakmip1	UTSW	5	37105623	missense	possibly damaging	0.95
R6961:Jakmip1	UTSW	5	37173353	missense	probably damaging	0.98
R6982:Jakmip1	UTSW	5	37124941	missense	probably damaging	1.00
R7109:Jakmip1	UTSW	5	37174765	nonsense	probably null
R7173:Jakmip1	UTSW	5	37091364	missense	probably damaging	1.00
R7293:Jakmip1	UTSW	5	37127473	missense	probably benign	0.00
R7294:Jakmip1	UTSW	5	37117460	missense	possibly damaging	0.65
R7361:Jakmip1	UTSW	5	37118804	missense	probably damaging	1.00
R7384:Jakmip1	UTSW	5	37173207	missense	possibly damaging	0.70
R7454:Jakmip1	UTSW	5	37175154	missense	probably damaging	0.96
R7477:Jakmip1	UTSW	5	37173571	missense	probably benign	0.00
R7579:Jakmip1	UTSW	5	37127458	missense	possibly damaging	0.95
R7617:Jakmip1	UTSW	5	37171001	missense	possibly damaging	0.85
R7651:Jakmip1	UTSW	5	37134273	missense	probably damaging	0.97
R7702:Jakmip1	UTSW	5	37117497	missense	probably damaging	1.00
R7822:Jakmip1	UTSW	5	37175180	missense	probably damaging	0.99
R7888:Jakmip1	UTSW	5	37104864	missense	probably damaging	1.00
R7942:Jakmip1	UTSW	5	37173838	missense	probably benign	0.01
R7949:Jakmip1	UTSW	5	37182148	missense	probably damaging	1.00
R8015:Jakmip1	UTSW	5	37159765	missense	unknown
R8039:Jakmip1	UTSW	5	37100772	missense	probably damaging	1.00
R8044:Jakmip1	UTSW	5	37154644	missense	unknown
R8070:Jakmip1	UTSW	5	37173287	missense	probably benign	0.10
R8410:Jakmip1	UTSW	5	37117484	missense	possibly damaging	0.91
R8779:Jakmip1	UTSW	5	37229328	missense	unknown
R8946:Jakmip1	UTSW	5	37185740	critical splice donor site	probably null
R8992:Jakmip1	UTSW	5	37117538	missense	probably benign	0.23
R9007:Jakmip1	UTSW	5	37175513	missense	probably benign	0.04
RF014:Jakmip1	UTSW	5	37174526	missense	possibly damaging	0.59
T0722:Jakmip1	UTSW	5	37118903	missense	probably damaging	1.00
Z1088:Jakmip1	UTSW	5	37120986	missense	probably damaging	1.00
Z1177:Jakmip1	UTSW	5	37091583	missense	probably damaging	1.00
Z1177:Jakmip1	UTSW	5	37175307	frame shift	probably null
Z1190:Jakmip1	UTSW	5	37173964	missense	probably benign	0.00

Posted On

2012-12-21