Mutagenetix > Incidental Mutation

Incidental Mutation 'R0036:Jakmip1'

15654

Institutional Source

Beutler Lab

Gene Symbol

Jakmip1

Ensembl Gene

ENSMUSG00000113373

Gene Name

janus kinase and microtubule interacting protein 1

Synonyms

5830437M04Rik, C330021K24Rik, Gababrbp, Marlin-1

MMRRC Submission

038330-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.197) question?

Stock #

R0036 (G1)

Quality Score

Status

Validated

Chromosome

Chromosomal Location

37185679-37307951 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 37291648 bp (GRCm39)

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
Cfap44	A	G	16: 44,259,432 (GRCm39)	E1098G	possibly damaging	Het
Cfap95	A	T	19: 23,593,932 (GRCm39)		probably benign	Het
Ctsq	C	T	13: 61,185,485 (GRCm39)		probably null	Het
Dock9	C	T	14: 121,860,265 (GRCm39)	V886M	probably damaging	Het
Eaf2	T	C	16: 36,621,020 (GRCm39)	Y224C	probably benign	Het
Eif5b	T	A	1: 38,058,192 (GRCm39)	S165T	probably benign	Het
Eln	A	G	5: 134,739,914 (GRCm39)		probably null	Het
Myo1e	T	A	9: 70,248,590 (GRCm39)	W435R	probably damaging	Het
Nadsyn1	T	C	7: 143,365,028 (GRCm39)	I226V	probably benign	Het
Nedd4l	T	C	18: 65,184,194 (GRCm39)		probably benign	Het
Phrf1	T	C	7: 140,841,693 (GRCm39)	M1435T	probably damaging	Het
Ppic	A	T	18: 53,542,264 (GRCm39)	I148N	probably damaging	Het
Sdr16c6	C	A	4: 4,063,335 (GRCm39)		probably benign	Het
Sgo2a	T	C	1: 58,054,787 (GRCm39)	S324P	probably benign	Het
Slf1	G	T	13: 77,249,070 (GRCm39)	Q373K	probably benign	Het
Tfg	G	T	16: 56,511,358 (GRCm39)	Q324K	probably benign	Het
Wdr64	G	T	1: 175,556,496 (GRCm39)	G248*	probably null	Het

Other mutations in Jakmip1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01015:Jakmip1	APN	5	37,242,750 (GRCm39)	nonsense	probably null
IGL01350:Jakmip1	APN	5	37,242,775 (GRCm39)	missense	probably benign	0.01
IGL01613:Jakmip1	APN	5	37,258,112 (GRCm39)	missense	probably damaging	1.00
IGL01875:Jakmip1	APN	5	37,278,324 (GRCm39)	missense	probably damaging	0.99
IGL02006:Jakmip1	APN	5	37,278,331 (GRCm39)	missense	probably damaging	0.99
IGL02225:Jakmip1	APN	5	37,262,200 (GRCm39)	missense	probably damaging	0.99
IGL02389:Jakmip1	APN	5	37,258,187 (GRCm39)	nonsense	probably null
R0194:Jakmip1	UTSW	5	37,291,627 (GRCm39)	missense	possibly damaging	0.77
R0442:Jakmip1	UTSW	5	37,292,897 (GRCm39)	splice site	probably null
R0555:Jakmip1	UTSW	5	37,276,217 (GRCm39)	missense	probably damaging	0.99
R1053:Jakmip1	UTSW	5	37,291,593 (GRCm39)	missense	possibly damaging	0.59
R1158:Jakmip1	UTSW	5	37,248,472 (GRCm39)	missense	possibly damaging	0.94
R1470:Jakmip1	UTSW	5	37,258,182 (GRCm39)	missense	probably damaging	1.00
R1470:Jakmip1	UTSW	5	37,258,182 (GRCm39)	missense	probably damaging	1.00
R2339:Jakmip1	UTSW	5	37,248,543 (GRCm39)	missense	probably benign	0.05
R2397:Jakmip1	UTSW	5	37,258,087 (GRCm39)	missense	probably damaging	0.99
R2425:Jakmip1	UTSW	5	37,299,149 (GRCm39)	nonsense	probably null
R2973:Jakmip1	UTSW	5	37,248,871 (GRCm39)	missense	probably damaging	1.00
R4758:Jakmip1	UTSW	5	37,285,966 (GRCm39)	missense	probably damaging	0.99
R4918:Jakmip1	UTSW	5	37,248,619 (GRCm39)	missense	probably damaging	1.00
R5212:Jakmip1	UTSW	5	37,262,245 (GRCm39)	missense	probably benign	0.05
R5842:Jakmip1	UTSW	5	37,264,612 (GRCm39)	missense	probably damaging	1.00
R5926:Jakmip1	UTSW	5	37,242,624 (GRCm39)	unclassified	probably benign
R6258:Jakmip1	UTSW	5	37,299,104 (GRCm39)	nonsense	probably null
R6776:Jakmip1	UTSW	5	37,344,498 (GRCm39)	missense	probably damaging	0.97
R6880:Jakmip1	UTSW	5	37,262,967 (GRCm39)	missense	possibly damaging	0.95
R6961:Jakmip1	UTSW	5	37,330,697 (GRCm39)	missense	probably damaging	0.98
R6982:Jakmip1	UTSW	5	37,282,285 (GRCm39)	missense	probably damaging	1.00
R7109:Jakmip1	UTSW	5	37,332,109 (GRCm39)	nonsense	probably null
R7173:Jakmip1	UTSW	5	37,248,708 (GRCm39)	missense	probably damaging	1.00
R7293:Jakmip1	UTSW	5	37,284,817 (GRCm39)	missense	probably benign	0.00
R7294:Jakmip1	UTSW	5	37,274,804 (GRCm39)	missense	possibly damaging	0.65
R7361:Jakmip1	UTSW	5	37,276,148 (GRCm39)	missense	probably damaging	1.00
R7384:Jakmip1	UTSW	5	37,330,551 (GRCm39)	missense	possibly damaging	0.70
R7454:Jakmip1	UTSW	5	37,332,498 (GRCm39)	missense	probably damaging	0.96
R7477:Jakmip1	UTSW	5	37,330,915 (GRCm39)	missense	probably benign	0.00
R7579:Jakmip1	UTSW	5	37,284,802 (GRCm39)	missense	possibly damaging	0.95
R7617:Jakmip1	UTSW	5	37,328,345 (GRCm39)	missense	possibly damaging	0.85
R7651:Jakmip1	UTSW	5	37,291,617 (GRCm39)	missense	probably damaging	0.97
R7702:Jakmip1	UTSW	5	37,274,841 (GRCm39)	missense	probably damaging	1.00
R7822:Jakmip1	UTSW	5	37,332,524 (GRCm39)	missense	probably damaging	0.99
R7888:Jakmip1	UTSW	5	37,262,208 (GRCm39)	missense	probably damaging	1.00
R7942:Jakmip1	UTSW	5	37,331,182 (GRCm39)	missense	probably benign	0.01
R7949:Jakmip1	UTSW	5	37,339,492 (GRCm39)	missense	probably damaging	1.00
R8015:Jakmip1	UTSW	5	37,317,109 (GRCm39)	missense	unknown
R8039:Jakmip1	UTSW	5	37,258,116 (GRCm39)	missense	probably damaging	1.00
R8044:Jakmip1	UTSW	5	37,311,988 (GRCm39)	missense	unknown
R8070:Jakmip1	UTSW	5	37,330,631 (GRCm39)	missense	probably benign	0.10
R8410:Jakmip1	UTSW	5	37,274,828 (GRCm39)	missense	possibly damaging	0.91
R8779:Jakmip1	UTSW	5	37,386,672 (GRCm39)	missense	unknown
R8946:Jakmip1	UTSW	5	37,343,084 (GRCm39)	critical splice donor site	probably null
R8992:Jakmip1	UTSW	5	37,274,882 (GRCm39)	missense	probably benign	0.23
R9007:Jakmip1	UTSW	5	37,332,857 (GRCm39)	missense	probably benign	0.04
R9531:Jakmip1	UTSW	5	37,332,407 (GRCm39)	missense	probably damaging	0.96
R9621:Jakmip1	UTSW	5	37,274,812 (GRCm39)	missense	unknown
RF014:Jakmip1	UTSW	5	37,331,870 (GRCm39)	missense	possibly damaging	0.59
T0722:Jakmip1	UTSW	5	37,276,247 (GRCm39)	missense	probably damaging	1.00
Z1088:Jakmip1	UTSW	5	37,278,330 (GRCm39)	missense	probably damaging	1.00
Z1177:Jakmip1	UTSW	5	37,332,651 (GRCm39)	frame shift	probably null
Z1177:Jakmip1	UTSW	5	37,248,927 (GRCm39)	missense	probably damaging	1.00
Z1190:Jakmip1	UTSW	5	37,331,308 (GRCm39)	missense	probably benign	0.00

Posted On

2012-12-21