Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01613:Jakmip1'

92274

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Jakmip1

Ensembl Gene

ENSMUSG00000113373

Gene Name

Synonyms

Gababrbp, C330021K24Rik, Marlin-1, 5830437M04Rik

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.112) question?

Stock #

IGL01613

Quality Score

Status

Chromosome

Chromosomal Location

37113784-37117473 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

G to T at 37100768 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Alanine to Serine at position 253 (A253S)

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: A253S

PolyPhen 2 Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000038504
Gene: ENSMUSG00000063646
AA Change: A253S

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: A253S

PolyPhen 2 Score 0.988 (Sensitivity: 0.73; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000113624
Gene: ENSMUSG00000063646
AA Change: A253S

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: A253S

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000122584
Gene: ENSMUSG00000063646
AA Change: A253S

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: A88S

PolyPhen 2 Score 0.988 (Sensitivity: 0.73; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000134288
Gene: ENSMUSG00000063646
AA Change: A88S

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: A253S

PolyPhen 2 Score 0.988 (Sensitivity: 0.73; Specificity: 0.96)

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: 48 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aacs	T	G	5: 125,512,652	M446R	possibly damaging	Het
Abca16	A	G	7: 120,541,277	N1599S	probably benign	Het
Ankib1	G	A	5: 3,713,146	Q528*	probably null	Het
Ano10	A	T	9: 122,259,540	L347M	possibly damaging	Het
Bag6	T	C	17: 35,143,016		probably benign	Het
Bpnt1	T	C	1: 185,353,994	V182A	possibly damaging	Het
Capn13	G	T	17: 73,331,058	T450N	probably benign	Het
Cbr3	A	T	16: 93,683,443	E40V	probably benign	Het
Cdk10	T	C	8: 123,228,387	I159T	probably damaging	Het
Cela3b	T	C	4: 137,425,071	D65G	possibly damaging	Het
Csf2rb	T	G	15: 78,335,302		probably benign	Het
Cyp2b19	C	T	7: 26,763,461	T256I	possibly damaging	Het
Dpp9	T	C	17: 56,190,713	H687R	probably benign	Het
Elovl1	T	C	4: 118,431,270	V108A	probably benign	Het
Emb	T	A	13: 117,272,078	N318K	probably damaging	Het
Ermp1	A	G	19: 29,639,939	L36P	probably damaging	Het
Esco2	T	G	14: 65,826,595	H380P	possibly damaging	Het
Gm5724	G	T	6: 141,713,214	T552K	possibly damaging	Het
Gm9747	G	A	1: 82,234,088		probably benign	Het
Golga1	A	G	2: 39,020,126	M603T	probably benign	Het
Hsph1	A	G	5: 149,627,278	V411A	probably benign	Het
Igsf21	C	T	4: 140,107,364	G66S	possibly damaging	Het
Ints11	T	C	4: 155,885,198		probably null	Het
Met	A	G	6: 17,540,577	Y834C	probably damaging	Het
Mgl2	A	G	11: 70,134,158	T2A	probably benign	Het
Myh2	G	T	11: 67,197,344	V1929L	probably benign	Het
Myh8	T	C	11: 67,301,710	S1472P	probably benign	Het
Myo1e	T	C	9: 70,341,273		probably benign	Het
Ndufaf7	A	G	17: 78,937,502	I17V	probably benign	Het
Olfr1046	T	G	2: 86,217,161	D183A	probably damaging	Het
Olfr1256	T	C	2: 89,835,808	T46A	probably damaging	Het
Olfr193	A	T	16: 59,109,921	S230T	probably damaging	Het
Olfr804	A	G	10: 129,705,623	I248M	probably benign	Het
Olfr830	T	A	9: 18,875,321		probably benign	Het
Olfr914	A	G	9: 38,606,554	I30V	probably null	Het
Olfr992	C	T	2: 85,400,171	D121N	probably damaging	Het
Ppef2	T	C	5: 92,235,820	E477G	probably benign	Het
Scmh1	T	A	4: 120,529,900		probably benign	Het
Scn1a	C	A	2: 66,285,937	D1473Y	probably damaging	Het
Sdr42e1	C	T	8: 117,662,937	V322I	probably benign	Het
Spta1	G	A	1: 174,208,394	A1089T	probably damaging	Het
Sufu	T	C	19: 46,475,620	Y424H	probably damaging	Het
Tgs1	T	C	4: 3,585,183	F108L	possibly damaging	Het
Ttn	T	C	2: 76,974,964	N177S	probably benign	Het
Tyk2	T	C	9: 21,120,576	D401G	probably damaging	Het
Vav1	T	C	17: 57,307,067	F650L	possibly damaging	Het
Wdr12	T	C	1: 60,080,559	H385R	probably damaging	Het
Xab2	T	C	8: 3,610,880	M745V	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
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
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

Posted On

2013-12-09