Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02650:Synj1'

302105

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 #

IGL02650

Quality Score

Status

Chromosome

Chromosomal Location

90936092-91011308 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

G to T at 90976696 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Asparagine at position 459 (T459N)

Ref Sequence

ENSEMBL: ENSMUSP00000113308 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000121759] [ENSMUST00000130813] [ENSMUST00000170853]

AlphaFold

no structure available at present

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000118246

Predicted Effect

unknown
Transcript: ENSMUST00000118390
AA Change: T433N

SMART Domains

Protein: ENSMUSP00000113518
Gene: ENSMUSG00000022973
AA Change: T433N

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 benign
Transcript: ENSMUST00000121759
AA Change: T459N

PolyPhen 2 Score 0.028 (Sensitivity: 0.95; Specificity: 0.81)

SMART Domains

Protein: ENSMUSP00000113308
Gene: ENSMUSG00000022973
AA Change: T459N

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

probably benign
Transcript: ENSMUST00000130813
AA Change: T419N

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000119712
Gene: ENSMUSG00000022973
AA Change: T419N

Domain	Start	End	E-Value	Type
Pfam:Syja_N	59	346	1.4e-86	PFAM
low complexity region	441	459	N/A	INTRINSIC
IPPc	526	693	1.8e-9	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000170853
AA Change: T419N

PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)

SMART Domains

Protein: ENSMUSP00000128997
Gene: ENSMUSG00000022973
AA Change: T419N

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

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: 36 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4932414N04Rik	A	G	2: 68,741,537	T586A	probably benign	Het
Acads	G	T	5: 115,112,815	T141N	probably benign	Het
Ankmy1	C	T	1: 92,881,023	R721H	probably damaging	Het
Appl1	A	G	14: 26,950,708	V236A	possibly damaging	Het
Arhgef5	C	T	6: 43,272,935	Q207*	probably null	Het
Atp2a3	C	A	11: 72,975,339	H262N	probably benign	Het
Atp6v0a2	G	T	5: 124,712,362		probably benign	Het
Cenpf	T	C	1: 189,652,473	K2537E	possibly damaging	Het
Cox7a1	A	T	7: 30,185,137	E32V	possibly damaging	Het
Dis3	A	T	14: 99,098,785	M95K	probably benign	Het
Dnah5	A	T	15: 28,289,047		probably benign	Het
Dock10	T	A	1: 80,574,123	Y665F	probably damaging	Het
Ghsr	A	T	3: 27,374,855	Q343L	probably benign	Het
Gm3252	T	A	14: 4,746,353	V215E	probably damaging	Het
Gm9979	A	G	13: 40,705,749		noncoding transcript	Het
Grik2	A	T	10: 49,101,235	M867K	probably benign	Het
Grm7	A	G	6: 111,358,958	T777A	probably damaging	Het
Hc	T	A	2: 35,000,874	Q1310L	possibly damaging	Het
Ifi44	A	G	3: 151,745,855	F205L	probably damaging	Het
Igkv4-86	T	C	6: 68,910,633	I40V	probably benign	Het
Jag1	T	C	2: 137,115,585	D69G	possibly damaging	Het
Lrch1	T	C	14: 74,813,698	D333G	probably damaging	Het
Mapre3	T	A	5: 30,864,709	I187N	probably damaging	Het
Myo15b	T	C	11: 115,886,511		probably null	Het
Nanos2	C	T	7: 18,987,869	P89S	probably damaging	Het
Olfr1214	T	A	2: 88,988,080	M41L	probably benign	Het
Parp16	G	A	9: 65,233,816	V223I	probably damaging	Het
Rnf123	A	G	9: 108,069,748	M231T	probably benign	Het
Suco	C	A	1: 161,848,753		probably benign	Het
Taf4b	C	T	18: 14,841,983	Q732*	probably null	Het
Tas2r102	A	G	6: 132,762,210	N27S	probably null	Het
Tctex1d1	C	A	4: 102,988,606	Q12K	probably benign	Het
Tll1	C	T	8: 64,046,997		probably benign	Het
Vmn1r168	A	G	7: 23,541,491	I258V	probably benign	Het
Vmn2r71	T	A	7: 85,624,327	M783K	probably damaging	Het
Vmn2r98	G	A	17: 19,080,961	V742I	probably benign	Het

Other mutations in Synj1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01143:Synj1	APN	16	90951976	missense	probably damaging	1.00
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
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

2015-04-16