Mutagenetix > Incidental Mutation

Incidental Mutation 'R6880:Jakmip1'

536608

Institutional Source

Beutler Lab

Gene Symbol

Jakmip1

Ensembl Gene

ENSMUSG00000113373

Gene Name

Synonyms

Gababrbp, C330021K24Rik, Marlin-1, 5830437M04Rik

MMRRC Submission

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.203) question?

Stock #

R6880 (G1)

Quality Score

188.009

Status

Validated

Chromosome

Chromosomal Location

37113784-37117473 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 37105623 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Serine to Proline at position 372 (S372P)

Ref Sequence

ENSEMBL: ENSMUSP00000038504 (fasta)

Gene Model

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

AlphaFold

no structure available at present

Predicted Effect

possibly damaging
Transcript: ENSMUST00000043794
AA Change: S372P

PolyPhen 2 Score 0.953 (Sensitivity: 0.79; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000038504
Gene: ENSMUSG00000063646
AA Change: S372P

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

possibly damaging
Transcript: ENSMUST00000121010
AA Change: S372P

PolyPhen 2 Score 0.513 (Sensitivity: 0.88; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000113624
Gene: ENSMUSG00000063646
AA Change: S372P

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 benign
Transcript: ENSMUST00000137019

SMART Domains

Protein: ENSMUSP00000122584
Gene: ENSMUSG00000063646

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

possibly damaging
Transcript: ENSMUST00000174629
AA Change: S207P

PolyPhen 2 Score 0.662 (Sensitivity: 0.86; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000134288
Gene: ENSMUSG00000063646
AA Change: S207P

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

possibly damaging
Transcript: ENSMUST00000232332
AA Change: S372P

PolyPhen 2 Score 0.513 (Sensitivity: 0.88; Specificity: 0.90)

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.4%
20x: 98.1%

Validation Efficiency

97% (62/64)

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: 63 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acad9	T	A	3: 36,069,705		probably null	Het
Aff3	T	C	1: 38,535,162	H206R	probably damaging	Het
Aff3	T	C	1: 38,627,128	D5G	possibly damaging	Het
Alg5	A	G	3: 54,738,843	E43G	probably damaging	Het
Ankrd36	T	C	11: 5,628,748	L4P	probably damaging	Het
Ano1	T	C	7: 144,644,742	Y345C	probably benign	Het
Atf7ip	A	G	6: 136,561,040	I432V	probably damaging	Het
B230307C23Rik	T	C	16: 97,997,427		probably benign	Het
Baz2b	T	A	2: 59,912,939	N1563Y	probably damaging	Het
Bhlha15	A	T	5: 144,191,633	T188S	probably damaging	Het
Cbr3	T	C	16: 93,690,538	V203A	probably benign	Het
Cpsf1	T	C	15: 76,602,539	T266A	probably benign	Het
Dnah7c	T	C	1: 46,527,671	Y681H	probably damaging	Het
Dock2	C	T	11: 34,688,452		probably null	Het
Dsc1	T	A	18: 20,088,372	D682V	probably damaging	Het
Fkbp15	A	T	4: 62,336,495	I256N	possibly damaging	Het
Foxd1	A	C	13: 98,354,717	D33A	unknown	Het
Gid4	T	A	11: 60,436,435	F149I	probably damaging	Het
Hmcn2	G	T	2: 31,343,056	V206L	probably damaging	Het
Ighg2b	T	C	12: 113,307,106	I135V		Het
Ighv1-24	T	C	12: 114,773,043	Y79C	possibly damaging	Het
Impg1	T	A	9: 80,404,800	D167V	probably damaging	Het
Kcnb1	T	C	2: 167,105,807	T374A	probably damaging	Het
Lrrn4	A	G	2: 132,872,112	S305P	probably damaging	Het
Ltbp1	C	T	17: 75,321,049	T1179I	possibly damaging	Het
Mab21l2	A	G	3: 86,547,156	I179T	possibly damaging	Het
Myo5b	A	T	18: 74,722,430	H1230L	probably benign	Het
Myocos	T	C	1: 162,657,033		probably null	Het
Nipa2	T	C	7: 55,933,251	T249A	probably damaging	Het
Oas1a	C	A	5: 120,901,940	R196L	probably damaging	Het
Olfr228	A	G	2: 86,483,725	F6L	probably benign	Het
Olfr235	A	G	19: 12,268,610	I127V	probably benign	Het
Olfr700	A	T	7: 106,805,812	S217T	probably damaging	Het
Phxr2	G	A	10: 99,126,084		probably benign	Het
Pigq	A	G	17: 25,934,828	L85P	probably damaging	Het
Pla2g4a	T	A	1: 149,851,451	D518V	possibly damaging	Het
Pm20d1	A	G	1: 131,804,101	K294E	probably benign	Het
Polr3d	C	A	14: 70,440,015	R307L	probably benign	Het
Pou5f2	T	C	13: 78,025,494	L185P	possibly damaging	Het
Prex2	A	T	1: 11,132,384	N506Y	probably damaging	Het
Proser1	T	A	3: 53,477,839	S381T	probably benign	Het
Prpf4b	T	C	13: 34,894,453	V682A	possibly damaging	Het
Prr14l	A	T	5: 32,830,867	L428Q	probably benign	Het
Prss23	A	G	7: 89,510,825	V12A	probably benign	Het
Qk	T	C	17: 10,215,447	D321G	probably benign	Het
Rab11fip5	A	G	6: 85,348,845	L193P	probably damaging	Het
Retreg1	T	G	15: 25,971,739	L245R	probably damaging	Het
Rfc1	T	C	5: 65,277,386	N679S	probably benign	Het
Rpl4	C	T	9: 64,177,053	A220V	probably damaging	Het
Rxra	G	A	2: 27,748,656	E224K	possibly damaging	Het
Slc26a7	A	G	4: 14,516,159	C557R	possibly damaging	Het
Sncaip	A	G	18: 52,869,064	K219R	probably damaging	Het
Sorbs1	G	C	19: 40,376,800	R180G	probably benign	Het
Sphkap	A	G	1: 83,257,257	V1616A	probably damaging	Het
Sulf1	T	C	1: 12,842,755	C738R	probably damaging	Het
Suz12	T	A	11: 80,002,172	C38*	probably null	Het
Ttn	T	C	2: 76,720,498	T23190A	probably damaging	Het
Twnk	A	G	19: 45,007,416	D96G	probably benign	Het
Vcan	T	A	13: 89,712,381	N289I	probably damaging	Het
Vmn2r120	A	T	17: 57,509,187	S723T	probably damaging	Het
Vmn2r97	A	T	17: 18,914,508	I63F	probably benign	Het
Washc5	T	C	15: 59,350,172	N125S	probably benign	Het
Zfp865	A	G	7: 5,030,549	Y511C	probably damaging	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
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
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'- AGCCATTCCTGTGAGCATC -3'
(R):5'- CTGCTTCCTGGAGATCACAG -3'

Sequencing Primer
(F):5'- GTGAGCATCACTGACCACAC -3'
(R):5'- TTCCTGGAGATCACAGGGGAC -3'

Posted On

2018-10-18