Mutagenetix > Incidental Mutations

Incidental Mutation 'IGL02389:Jakmip1'

291694

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Jakmip1

Ensembl Gene

ENSMUSG00000113373

Gene Name

Synonyms

Gababrbp, C330021K24Rik, Marlin-1, 5830437M04Rik

Accession Numbers

Is this an essential gene?

Probably essential (E-score: 0.768) question?

Stock #

IGL02389

Quality Score

Status

Chromosome

Chromosomal Location

37113784-37117473 bp(+) (GRCm38)

Type of Mutation

nonsense

DNA Base Change (assembly)

C to T at 37100843 bp

Zygosity

Heterozygous

Amino Acid Change

Glutamine to Stop codon at position 278 (Q278*)

Ref Sequence

ENSEMBL: ENSMUSP00000156188 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000043794] [ENSMUST00000121010] [ENSMUST00000137019] [ENSMUST00000174629] [ENSMUST00000232332]

Predicted Effect

probably null
Transcript: ENSMUST00000043794
AA Change: Q278*

SMART Domains

Protein: ENSMUSP00000038504
Gene: ENSMUSG00000063646
AA Change: Q278*

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
low complexity region	412	424	N/A	INTRINSIC
low complexity region	467	487	N/A	INTRINSIC
coiled coil region	515	604	N/A	INTRINSIC

Predicted Effect

probably null
Transcript: ENSMUST00000121010
AA Change: Q278*

SMART Domains

Protein: ENSMUSP00000113624
Gene: ENSMUSG00000063646
AA Change: Q278*

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: ENSMUST00000137019
AA Change: Q278*

SMART Domains

Protein: ENSMUSP00000122584
Gene: ENSMUSG00000063646
AA Change: Q278*

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	330	N/A	INTRINSIC

Predicted Effect

probably null
Transcript: ENSMUST00000174629
AA Change: Q113*

SMART Domains

Protein: ENSMUSP00000134288
Gene: ENSMUSG00000063646
AA Change: Q113*

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: Q278*

Coding Region Coverage

Validation Efficiency

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: 44 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
0610040J01Rik	G	A	5: 63,896,483	S11N	probably null	Het
Aqp9	T	C	9: 71,122,906	I200V	possibly damaging	Het
BC100530	C	A	16: 36,367,486	V6F	possibly damaging	Het
Cntn2	T	C	1: 132,525,321	E411G	probably damaging	Het
Csgalnact1	C	A	8: 68,401,492	G219V	probably damaging	Het
Dennd3	A	G	15: 73,567,056	D1091G	probably damaging	Het
Dock2	T	C	11: 34,698,740		probably benign	Het
Dscam	T	A	16: 96,640,897	I1577F	probably benign	Het
Egflam	A	T	15: 7,250,078	N482K	probably benign	Het
Fam216a	T	C	5: 122,367,511	T129A	probably damaging	Het
Fbxo40	T	C	16: 36,969,774	M325V	probably benign	Het
Fbxw8	C	T	5: 118,128,955	V148M	possibly damaging	Het
Fcgbp	C	T	7: 28,075,171	R57C	probably damaging	Het
Gnpnat1	A	G	14: 45,380,931		probably null	Het
Gria2	T	C	3: 80,709,422	T408A	probably benign	Het
H2-T3	A	G	17: 36,186,608	M59T	probably benign	Het
Krtap21-1	C	T	16: 89,403,424	G110D	unknown	Het
Myo7a	C	T	7: 98,106,991		probably null	Het
Nlrp9c	T	A	7: 26,394,207	Q11L	probably benign	Het
Olfr1442	A	T	19: 12,674,535	D110V	probably benign	Het
Olfr298	A	G	7: 86,489,128	L141P	probably damaging	Het
Olfr767	A	C	10: 129,079,230	I244M	probably damaging	Het
Olfr790	T	A	10: 129,501,070	M62K	probably benign	Het
Pdzd8	A	G	19: 59,301,393	I525T	probably benign	Het
Pign	A	T	1: 105,646,781	L280*	probably null	Het
Pik3r4	T	G	9: 105,650,331	I294M	possibly damaging	Het
Pkhd1	T	A	1: 20,117,720	I3455F	probably damaging	Het
Prmt3	C	T	7: 49,848,758	Q471*	probably null	Het
Prrc2c	A	G	1: 162,692,870	F2006L	probably damaging	Het
Ptger3	C	T	3: 157,567,171	R52C	probably damaging	Het
Rfx2	T	C	17: 56,808,325		probably benign	Het
Sh3bp4	T	C	1: 89,145,148	F573L	probably damaging	Het
Slc18a2	G	T	19: 59,263,301		probably benign	Het
Slc26a8	T	A	17: 28,638,650	I840F	probably benign	Het
Slc5a4b	A	T	10: 76,072,465	Y364*	probably null	Het
Slitrk1	A	G	14: 108,912,322	I319T	probably benign	Het
Stxbp5l	C	T	16: 37,208,205	A499T	probably benign	Het
Tnks2	T	A	19: 36,884,103	S951R	probably benign	Het
Trim30c	A	G	7: 104,382,174	F478S	probably benign	Het
Tyro3	C	T	2: 119,804,864		probably benign	Het
Vmn1r34	A	T	6: 66,637,058	L232Q	probably damaging	Het
Zfp148	T	A	16: 33,495,446	C215S	probably damaging	Het
Zzef1	T	A	11: 72,899,538	V2106D	possibly damaging	Het
Zzef1	C	T	11: 72,891,217	P1995S	probably benign	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
R0036:Jakmip1	UTSW	5	37134304	missense	probably null	0.38
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
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

Posted On

2015-04-16