Mutagenetix > Incidental Mutation

Incidental Mutation 'R8039:Jakmip1'

618395

Institutional Source

Beutler Lab

Gene Symbol

Jakmip1

Ensembl Gene

ENSMUSG00000113373

Gene Name

Synonyms

Gababrbp, C330021K24Rik, Marlin-1, 5830437M04Rik

MMRRC Submission

067476-MU

Accession Numbers

Essential gene?

Possibly non essential (E-score: 0.263) question?

Stock #

R8039 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

37113784-37117473 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 37100772 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Glycine at position 254 (E254G)

Ref Sequence

ENSEMBL: ENSMUSP00000122584 (fasta)

Gene Model

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

AlphaFold

no structure available at present

Predicted Effect

probably damaging
Transcript: ENSMUST00000043794
AA Change: E254G

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000038504
Gene: ENSMUSG00000063646
AA Change: E254G

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 damaging
Transcript: ENSMUST00000121010
AA Change: E254G

PolyPhen 2 Score 0.986 (Sensitivity: 0.74; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000113624
Gene: ENSMUSG00000063646
AA Change: E254G

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 damaging
Transcript: ENSMUST00000137019
AA Change: E254G

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000122584
Gene: ENSMUSG00000063646
AA Change: E254G

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 damaging
Transcript: ENSMUST00000174629
AA Change: E89G

PolyPhen 2 Score 0.986 (Sensitivity: 0.74; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000134288
Gene: ENSMUSG00000063646
AA Change: E89G

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 damaging
Transcript: ENSMUST00000232332
AA Change: E254G

PolyPhen 2 Score 0.986 (Sensitivity: 0.74; Specificity: 0.96)

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.6%
20x: 98.5%

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: 86 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4932438A13Rik	T	A	3: 36,943,214	V1140E	probably benign	Het
Abca17	T	C	17: 24,328,725	H225R	probably damaging	Het
Adgrb2	T	A	4: 130,022,268	L1451Q	probably damaging	Het
Afdn	T	C	17: 13,899,141	L1713P	probably damaging	Het
Agr2	A	T	12: 35,995,559	I15F	probably benign	Het
Agrn	T	C	4: 156,169,011	T1808A	probably benign	Het
Akap6	A	G	12: 53,141,676	I1958V	probably benign	Het
Ankrd60	C	A	2: 173,572,491		probably null	Het
Anpep	A	G	7: 79,839,400		probably null	Het
Apoa4	A	T	9: 46,242,293	D64V	possibly damaging	Het
Arhgef26	C	A	3: 62,339,930	T145N	probably benign	Het
Art1	A	T	7: 102,106,845	Q81L	probably benign	Het
Astl	A	T	2: 127,343,983	S71C	probably damaging	Het
Atp2a1	A	G	7: 126,448,805	I611T	probably damaging	Het
Cacna2d2	T	A	9: 107,527,433	V1139D	possibly damaging	Het
Chst10	T	A	1: 38,866,031	K198*	probably null	Het
Ckmt2	G	A	13: 91,863,312	H60Y	possibly damaging	Het
Coq7	G	C	7: 118,533,246	S2R	possibly damaging	Het
Cspp1	T	A	1: 10,113,013	D814E	probably benign	Het
Cyp2c54	CCTCTTTCATAGCTCT	CCTCT	19: 40,073,732		probably null	Het
Daam2	C	A	17: 49,464,538	G860V	probably damaging	Het
Ecm2	A	T	13: 49,514,850	I10F	probably benign	Het
Epb41l1	A	T	2: 156,506,412	D312V	probably damaging	Het
Epsti1	G	A	14: 77,931,301	R126H	probably damaging	Het
Erc1	A	T	6: 119,773,665	Y367*	probably null	Het
Erh	T	A	12: 80,637,578	R42W	probably damaging	Het
Fam124a	C	T	14: 62,605,876	Q278*	probably null	Het
Fam155a	T	C	8: 9,207,892	T419A	probably benign	Het
Fbxo3	T	A	2: 104,054,941	L385Q	probably damaging	Het
Fbxo31	T	A	8: 121,559,055	T219S	probably damaging	Het
Fstl5	T	G	3: 76,648,418	V534G	possibly damaging	Het
Gatsl3	G	T	11: 4,221,639	A288S	probably damaging	Het
Gbp2b	A	T	3: 142,618,164	I577F	probably benign	Het
Gbp8	A	T	5: 105,050,917	L44*	probably null	Het
Gck	C	T	11: 5,910,301	A114T	probably benign	Het
Gm16486	T	C	8: 70,710,906	V916A	probably benign	Het
Gtf2i	A	G	5: 134,255,834	V537A	possibly damaging	Het
Iqcm	C	A	8: 75,763,105	H400Q	probably damaging	Het
Itpr1	T	C	6: 108,386,628	L737P	probably damaging	Het
Kif15	A	T	9: 123,007,425	R1095W	possibly damaging	Het
Klhdc8a	G	A	1: 132,303,108	R237Q	probably benign	Het
Klhl38	T	C	15: 58,322,862	E157G	probably benign	Het
Klrk1	T	A	6: 129,612,823	N221I	probably benign	Het
Lhx8	A	T	3: 154,306,939	H345Q	probably damaging	Het
Lims1	T	A	10: 58,409,672	N174K	probably benign	Het
Madd	T	A	2: 91,167,061	Q754L	probably benign	Het
Mau2	T	C	8: 70,019,790	D581G	probably damaging	Het
Miga1	A	T	3: 152,276,756	I561N	probably benign	Het
Mmp1a	TG	TGG	9: 7,465,083		probably null	Het
Mob3c	T	C	4: 115,831,687	V139A	probably benign	Het
Nadk	G	T	4: 155,577,067	D17Y	probably benign	Het
Ncapd2	C	T	6: 125,181,026	V380I	probably damaging	Het
Nes	G	A	3: 87,977,008	R858K	probably benign	Het
Nphp3	T	C	9: 104,031,963	S791P	probably benign	Het
Nup210	T	C	6: 91,070,233	T496A	probably benign	Het
Ogfr	GGCCAGAGGACCCCAAAAGCCAGGTGGAGCCAGAGGACCCCAAAAGCCAGGTGGAGCCAGAGGACCCCAAAAGCCAGGTGGAGCCAGAGGACCCCAAAAGCCAGGTGGGGCCAGAGGACCCCCAAAGCCAGGTGG	GGCCAGAGGACCCCAAAAGCCAGGTGGAGCCAGAGGACCCCAAAAGCCAGGTGGAGCCAGAGGACCCCAAAAGCCAGGTGGGGCCAGAGGACCCCCAAAGCCAGGTGG	2: 180,595,266		probably benign	Het
Olfr1186	C	T	2: 88,525,871	T96I	probably benign	Het
Olfr220	T	A	1: 174,449,596	S324R	unknown	Het
Olfr914	T	A	9: 38,607,389	M308K	probably benign	Het
Ovgp1	T	A	3: 105,976,023	S105T	probably benign	Het
Pbld2	T	A	10: 63,047,992	C79S	probably damaging	Het
Pik3cd	T	A	4: 149,659,866	M143L	possibly damaging	Het
Plat	G	T	8: 22,772,232	G91W	probably damaging	Het
Poln	A	G	5: 34,122,672	V282A	probably benign	Het
Ppp1r11	T	C	17: 36,951,446	T21A	probably damaging	Het
Prpf8	T	A	11: 75,502,542	I1664N	possibly damaging	Het
Prr29	C	T	11: 106,376,912	A161V	probably benign	Het
Rasa3	T	C	8: 13,588,931	D292G	probably damaging	Het
Rnf25	T	C	1: 74,593,964	T411A	probably damaging	Het
Rraga	C	T	4: 86,575,980	T21I	probably damaging	Het
Setdb2	T	A	14: 59,402,375	Y673F	probably damaging	Het
Sf3a1	C	T	11: 4,167,787	T183I	probably damaging	Het
Shank3	A	T	15: 89,505,439	H413L	probably damaging	Het
Slc30a5	A	G	13: 100,813,681		probably null	Het
Slc6a18	T	C	13: 73,665,626	S523G	probably benign	Het
Spaca1	C	T	4: 34,044,207	V96I	probably damaging	Het
Sycp2	C	T	2: 178,374,585	A695T	probably benign	Het
Tnrc18	C	A	5: 142,732,052	G2216C	unknown	Het
Trak2	T	C	1: 58,946,288	N17S	probably benign	Het
Ttn	T	A	2: 76,878,432	N8792I	unknown	Het
Ttyh1	T	C	7: 4,122,541	V64A	probably benign	Het
Usb1	T	A	8: 95,333,413	S50R	probably damaging	Het
Ush2a	T	A	1: 188,957,373	I5044N	probably damaging	Het
Vmn1r84	A	T	7: 12,362,008	F253I	possibly damaging	Het
Vmn2r99	T	C	17: 19,380,040	I442T	probably benign	Het
Vsig1	C	T	X: 140,933,126	H232Y	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
IGL02389:Jakmip1	APN	5	37100843	nonsense	probably null
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
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
R9531:Jakmip1	UTSW	5	37175063	missense	probably damaging	0.96
R9621:Jakmip1	UTSW	5	37117468	missense	unknown
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

Predicted Primers

PCR Primer
(F):5'- AATCCAGAGTCTGACAGGGACAC -3'
(R):5'- TCCTGGTGTGAAGGATCCAGAG -3'

Sequencing Primer
(F):5'- GATCCTGAGCCCACACCTGATG -3'
(R):5'- TCCAGAGAGGAGGGGAGTGTG -3'

Posted On

2020-01-23