Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01143:Synj1'

52975

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Synj1

Ensembl Gene

ENSMUSG00000022973

Gene Name

synaptojanin 1

Synonyms

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

IGL01143

Quality Score

Status

Chromosome

Chromosomal Location

90936092-91011308 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 90951976 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Glycine at position 1064 (E1064G)

Ref Sequence

ENSEMBL: ENSMUSP00000113308 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000121759] [ENSMUST00000170853]

AlphaFold

no structure available at present

Predicted Effect

probably damaging
Transcript: ENSMUST00000118390
AA Change: E1038G

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

SMART Domains

Protein: ENSMUSP00000113518
Gene: ENSMUSG00000022973
AA Change: E1038G

Domain	Start	End	E-Value	Type
low complexity region	1	15	N/A	INTRINSIC
Pfam:Syja_N	75	356	3.1e-71	PFAM
IPPc	546	889	6.37e-177	SMART
DUF1866	882	1024	1.24e-80	SMART
low complexity region	1040	1069	N/A	INTRINSIC
low complexity region	1117	1151	N/A	INTRINSIC
low complexity region	1155	1166	N/A	INTRINSIC
low complexity region	1189	1208	N/A	INTRINSIC
low complexity region	1289	1322	N/A	INTRINSIC

Predicted Effect

probably damaging
Transcript: ENSMUST00000121759
AA Change: E1064G

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

SMART Domains

Protein: ENSMUSP00000113308
Gene: ENSMUSG00000022973
AA Change: E1064G

Domain	Start	End	E-Value	Type
low complexity region	9	40	N/A	INTRINSIC
Pfam:Syja_N	100	381	4.2e-71	PFAM
IPPc	571	914	6.37e-177	SMART
DUF1866	907	1049	1.24e-80	SMART
low complexity region	1065	1094	N/A	INTRINSIC
low complexity region	1142	1176	N/A	INTRINSIC
low complexity region	1180	1191	N/A	INTRINSIC
low complexity region	1214	1233	N/A	INTRINSIC
low complexity region	1314	1343	N/A	INTRINSIC
Blast:IPPc	1344	1428	1e-17	BLAST
low complexity region	1564	1596	N/A	INTRINSIC

Predicted Effect

unknown
Transcript: ENSMUST00000125032
AA Change: E1G

SMART Domains

Protein: ENSMUSP00000120399
Gene: ENSMUSG00000022973
AA Change: E1G

Domain	Start	End	E-Value	Type
low complexity region	3	32	N/A	INTRINSIC
low complexity region	80	110	N/A	INTRINSIC
low complexity region	123	142	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000154276

SMART Domains

Protein: ENSMUSP00000122675
Gene: ENSMUSG00000022973

Domain	Start	End	E-Value	Type
low complexity region	2	32	N/A	INTRINSIC
low complexity region	54	73	N/A	INTRINSIC
low complexity region	154	187	N/A	INTRINSIC

Predicted Effect

probably damaging
Transcript: ENSMUST00000170853
AA Change: E1024G

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000128997
Gene: ENSMUSG00000022973
AA Change: E1024G

Domain	Start	End	E-Value	Type
Pfam:Syja_N	59	346	1.7e-85	PFAM
IPPc	531	874	6.37e-177	SMART
DUF1866	867	1009	1.24e-80	SMART
low complexity region	1025	1054	N/A	INTRINSIC
low complexity region	1102	1136	N/A	INTRINSIC
low complexity region	1140	1151	N/A	INTRINSIC
low complexity region	1174	1193	N/A	INTRINSIC
low complexity region	1274	1307	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000175515

Predicted Effect

probably damaging
Transcript: ENSMUST00000231524
AA Change: E45G

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

Coding Region Coverage

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a phosphoinositide phosphatase that regulates levels of membrane phosphatidylinositol-4,5-bisphosphate. As such, expression of this enzyme may affect synaptic transmission and membrane trafficking. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Sep 2011]
PHENOTYPE: Homozygotes for a targeted null mutation exhibit neurological defects associated with impaired phosphoinositide metabolism and accumulation of clathrin-coated vesicles at nerve endings. Mutants show impaired suckling and most die within 24 hours of birth. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 41 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adgrl4	A	G	3: 151,500,229		probably null	Het
Adgrv1	A	C	13: 81,419,351	D5234E	probably benign	Het
Bmp7	G	T	2: 172,879,482	H267N	probably benign	Het
Btbd11	A	T	10: 85,654,471		probably benign	Het
Ccdc113	T	C	8: 95,534,260	V30A	probably damaging	Het
Ccdc185	A	T	1: 182,747,852	L424Q	probably damaging	Het
Cep192	T	A	18: 67,804,375	D58E	probably damaging	Het
Ces1f	C	T	8: 93,271,830		probably null	Het
Chaf1a	T	A	17: 56,063,336	D600E	possibly damaging	Het
Cndp2	A	G	18: 84,677,317		probably null	Het
Dnah11	T	A	12: 118,012,740	D2727V	probably damaging	Het
Dync1li2	T	C	8: 104,429,453	D252G	probably damaging	Het
Ephx2	C	T	14: 66,089,522	R408Q	probably damaging	Het
Fat1	C	A	8: 45,035,532	T3427K	possibly damaging	Het
Gal3st4	A	G	5: 138,271,402	M1T	probably null	Het
Gm5828	T	C	1: 16,769,948		noncoding transcript	Het
Gm7694	C	T	1: 170,302,825	M1I	probably null	Het
Gpatch1	A	G	7: 35,301,572		probably benign	Het
Grik1	G	T	16: 87,957,600		probably null	Het
Gtf2ird2	A	G	5: 134,196,553	T161A	possibly damaging	Het
Hk2	T	C	6: 82,729,552	I790V	possibly damaging	Het
Ints9	G	A	14: 65,037,421	V609I	probably benign	Het
Kcnq4	T	G	4: 120,698,623	D585A	probably damaging	Het
Large2	T	C	2: 92,366,339	Y464C	probably damaging	Het
Lpar6	G	A	14: 73,238,637	D13N	probably damaging	Het
Morn1	T	C	4: 155,092,304	Y132H	probably damaging	Het
Nphp1	C	T	2: 127,780,136	V24I	probably benign	Het
Olfr1141	T	C	2: 87,753,934	N20D	probably benign	Het
Olfr1457	A	T	19: 13,095,112	F179I	probably damaging	Het
Olfr905	G	T	9: 38,473,042	M98I	possibly damaging	Het
Pcdhb13	T	C	18: 37,442,637	W23R	probably benign	Het
Plekhg3	T	C	12: 76,564,982		probably null	Het
Slx4	T	C	16: 3,990,888	K396R	probably benign	Het
Snx13	A	G	12: 35,132,160	D736G	probably damaging	Het
Spag17	A	G	3: 99,939,298	D46G	probably benign	Het
Spata31	T	G	13: 64,920,816	Y259*	probably null	Het
Tom1	A	G	8: 75,058,457	T81A	probably benign	Het
Ttc23l	A	G	15: 10,530,689	I279T	probably damaging	Het
Ttc39a	T	C	4: 109,442,813		probably null	Het
Vmn2r108	C	A	17: 20,462,465	A826S	possibly damaging	Het
Zyg11b	A	T	4: 108,244,994	V510E	possibly damaging	Het

Other mutations in Synj1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01468:Synj1	APN	16	91010172	splice site	probably benign
IGL02209:Synj1	APN	16	90987419	missense	probably damaging	0.97
IGL02452:Synj1	APN	16	90961365	splice site	probably benign
IGL02619:Synj1	APN	16	90974045	missense	probably damaging	1.00
IGL02650:Synj1	APN	16	90976696	missense	probably benign	0.03
IGL02708:Synj1	APN	16	90991462	missense	probably damaging	1.00
IGL02863:Synj1	APN	16	90961434	missense	possibly damaging	0.94
IGL03131:Synj1	APN	16	90988168	missense	probably damaging	0.99
IGL03295:Synj1	APN	16	90938430	missense	probably benign	0.14
IGL03356:Synj1	APN	16	90987392	missense	probably damaging	1.00
PIT1430001:Synj1	UTSW	16	90964508	missense	probably damaging	1.00
R0179:Synj1	UTSW	16	90964631	missense	possibly damaging	0.80
R0396:Synj1	UTSW	16	90938640	missense	probably benign
R0426:Synj1	UTSW	16	90967354	missense	probably damaging	1.00
R0486:Synj1	UTSW	16	90938263	utr 3 prime	probably benign
R0515:Synj1	UTSW	16	90994022	missense	possibly damaging	0.93
R0535:Synj1	UTSW	16	90948087	missense	possibly damaging	0.80
R0697:Synj1	UTSW	16	90960615	missense	probably benign	0.44
R0698:Synj1	UTSW	16	90960615	missense	probably benign	0.44
R0945:Synj1	UTSW	16	90960445	missense	possibly damaging	0.90
R1327:Synj1	UTSW	16	90946855	missense	probably benign	0.05
R1562:Synj1	UTSW	16	90987402	missense	probably benign	0.09
R1732:Synj1	UTSW	16	90964230	missense	probably damaging	0.99
R1752:Synj1	UTSW	16	90938473	missense	probably benign
R1785:Synj1	UTSW	16	90964517	missense	probably damaging	1.00
R1786:Synj1	UTSW	16	90964517	missense	probably damaging	1.00
R2011:Synj1	UTSW	16	90938696	missense	probably damaging	1.00
R2012:Synj1	UTSW	16	90938696	missense	probably damaging	1.00
R2065:Synj1	UTSW	16	90991649	critical splice acceptor site	probably null
R2862:Synj1	UTSW	16	90969329	missense	probably damaging	1.00
R3026:Synj1	UTSW	16	90978734	missense	probably damaging	1.00
R3151:Synj1	UTSW	16	90960626	missense	probably damaging	0.96
R3946:Synj1	UTSW	16	91010096	missense	possibly damaging	0.48
R3971:Synj1	UTSW	16	90991603	missense	probably damaging	1.00
R4472:Synj1	UTSW	16	90969181	critical splice donor site	probably null
R4547:Synj1	UTSW	16	90988282	missense	possibly damaging	0.51
R4647:Synj1	UTSW	16	90973989	missense	probably damaging	1.00
R4739:Synj1	UTSW	16	90955419	missense	probably benign	0.00
R5027:Synj1	UTSW	16	90940519	splice site	probably null
R5428:Synj1	UTSW	16	90991518	missense	probably damaging	0.98
R5586:Synj1	UTSW	16	91009977	intron	probably benign
R5769:Synj1	UTSW	16	90938253	utr 3 prime	probably benign
R6005:Synj1	UTSW	16	90969286	missense	probably damaging	1.00
R6119:Synj1	UTSW	16	90938989	missense	probably benign	0.30
R6313:Synj1	UTSW	16	90946815	missense	probably benign	0.00
R6324:Synj1	UTSW	16	90938630	missense	probably benign	0.00
R6549:Synj1	UTSW	16	90938677	missense	probably benign
R6696:Synj1	UTSW	16	90960452	missense	probably damaging	0.98
R6698:Synj1	UTSW	16	90960452	missense	probably damaging	0.98
R6861:Synj1	UTSW	16	90963880	nonsense	probably null
R7008:Synj1	UTSW	16	90993945	missense	probably damaging	1.00
R7153:Synj1	UTSW	16	90948090	missense	probably benign	0.04
R7393:Synj1	UTSW	16	90951999	missense	probably damaging	0.99
R7510:Synj1	UTSW	16	90938677	missense	probably benign
R7560:Synj1	UTSW	16	90940483	missense	probably benign
R7724:Synj1	UTSW	16	90961499	missense	probably damaging	0.99
R7913:Synj1	UTSW	16	90991427	missense	possibly damaging	0.83
R8326:Synj1	UTSW	16	90988196	missense	probably benign	0.12
R8707:Synj1	UTSW	16	90955431	missense	probably benign	0.02
R8711:Synj1	UTSW	16	91010083	missense	probably damaging	0.98
R8767:Synj1	UTSW	16	90961518	missense	probably damaging	1.00
R8911:Synj1	UTSW	16	90978734	missense	probably damaging	1.00
R9052:Synj1	UTSW	16	90938840	missense	probably benign	0.00
R9124:Synj1	UTSW	16	90938625	missense	probably benign	0.00
R9307:Synj1	UTSW	16	90988207	missense	probably damaging	0.98
R9408:Synj1	UTSW	16	90944852	missense	probably benign	0.27
R9458:Synj1	UTSW	16	90969312	missense	probably benign	0.05
R9567:Synj1	UTSW	16	90994024	missense	possibly damaging	0.79
R9651:Synj1	UTSW	16	90938524	missense	probably benign	0.00
R9651:Synj1	UTSW	16	90960455	missense	possibly damaging	0.56
R9707:Synj1	UTSW	16	90961412	missense	possibly damaging	0.91
R9730:Synj1	UTSW	16	90960664	missense	probably damaging	0.98
R9732:Synj1	UTSW	16	90964526	missense	probably damaging	1.00
Z1176:Synj1	UTSW	16	90987340	missense	probably damaging	1.00

Posted On

2013-06-21