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

A930006D20Rik

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

IGL01143

Quality Score

Status

Chromosome

Chromosomal Location

90732980-90808196 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 90748864 bp (GRCm39)

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
Abtb3	A	T	10: 85,490,335 (GRCm39)		probably benign	Het
Adgrl4	A	G	3: 151,205,866 (GRCm39)		probably null	Het
Adgrv1	A	C	13: 81,567,470 (GRCm39)	D5234E	probably benign	Het
Bmp7	G	T	2: 172,721,275 (GRCm39)	H267N	probably benign	Het
Ccdc113	T	C	8: 96,260,888 (GRCm39)	V30A	probably damaging	Het
Ccdc185	A	T	1: 182,575,417 (GRCm39)	L424Q	probably damaging	Het
Cep192	T	A	18: 67,937,445 (GRCm39)	D58E	probably damaging	Het
Ces1f	C	T	8: 93,998,458 (GRCm39)		probably null	Het
Chaf1a	T	A	17: 56,370,336 (GRCm39)	D600E	possibly damaging	Het
Cndp2	A	G	18: 84,695,442 (GRCm39)		probably null	Het
Dnah11	T	A	12: 117,976,475 (GRCm39)	D2727V	probably damaging	Het
Dync1li2	T	C	8: 105,156,085 (GRCm39)	D252G	probably damaging	Het
Ephx2	C	T	14: 66,326,971 (GRCm39)	R408Q	probably damaging	Het
Fat1	C	A	8: 45,488,569 (GRCm39)	T3427K	possibly damaging	Het
Gal3st4	A	G	5: 138,269,664 (GRCm39)	M1T	probably null	Het
Gm5828	T	C	1: 16,840,172 (GRCm39)		noncoding transcript	Het
Gm7694	C	T	1: 170,130,394 (GRCm39)	M1I	probably null	Het
Gpatch1	A	G	7: 35,000,997 (GRCm39)		probably benign	Het
Grik1	G	T	16: 87,754,488 (GRCm39)		probably null	Het
Gtf2ird2	A	G	5: 134,225,394 (GRCm39)	T161A	possibly damaging	Het
Hk2	T	C	6: 82,706,533 (GRCm39)	I790V	possibly damaging	Het
Ints9	G	A	14: 65,274,870 (GRCm39)	V609I	probably benign	Het
Kcnq4	T	G	4: 120,555,820 (GRCm39)	D585A	probably damaging	Het
Large2	T	C	2: 92,196,684 (GRCm39)	Y464C	probably damaging	Het
Lpar6	G	A	14: 73,476,077 (GRCm39)	D13N	probably damaging	Het
Morn1	T	C	4: 155,176,761 (GRCm39)	Y132H	probably damaging	Het
Nphp1	C	T	2: 127,622,056 (GRCm39)	V24I	probably benign	Het
Or5b104	A	T	19: 13,072,476 (GRCm39)	F179I	probably damaging	Het
Or5w17	T	C	2: 87,584,278 (GRCm39)	N20D	probably benign	Het
Or8b1c	G	T	9: 38,384,338 (GRCm39)	M98I	possibly damaging	Het
Pcdhb13	T	C	18: 37,575,690 (GRCm39)	W23R	probably benign	Het
Plekhg3	T	C	12: 76,611,756 (GRCm39)		probably null	Het
Slx4	T	C	16: 3,808,752 (GRCm39)	K396R	probably benign	Het
Snx13	A	G	12: 35,182,159 (GRCm39)	D736G	probably damaging	Het
Spag17	A	G	3: 99,846,614 (GRCm39)	D46G	probably benign	Het
Spata31	T	G	13: 65,068,630 (GRCm39)	Y259*	probably null	Het
Tom1	A	G	8: 75,785,085 (GRCm39)	T81A	probably benign	Het
Ttc23l	A	G	15: 10,530,775 (GRCm39)	I279T	probably damaging	Het
Ttc39a	T	C	4: 109,300,010 (GRCm39)		probably null	Het
Vmn2r108	C	A	17: 20,682,727 (GRCm39)	A826S	possibly damaging	Het
Zyg11b	A	T	4: 108,102,191 (GRCm39)	V510E	possibly damaging	Het

Other mutations in Synj1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01468:Synj1	APN	16	90,807,060 (GRCm39)	splice site	probably benign
IGL02209:Synj1	APN	16	90,784,307 (GRCm39)	missense	probably damaging	0.97
IGL02452:Synj1	APN	16	90,758,253 (GRCm39)	splice site	probably benign
IGL02619:Synj1	APN	16	90,770,933 (GRCm39)	missense	probably damaging	1.00
IGL02650:Synj1	APN	16	90,773,584 (GRCm39)	missense	probably benign	0.03
IGL02708:Synj1	APN	16	90,788,350 (GRCm39)	missense	probably damaging	1.00
IGL02863:Synj1	APN	16	90,758,322 (GRCm39)	missense	possibly damaging	0.94
IGL03131:Synj1	APN	16	90,785,056 (GRCm39)	missense	probably damaging	0.99
IGL03295:Synj1	APN	16	90,735,318 (GRCm39)	missense	probably benign	0.14
IGL03356:Synj1	APN	16	90,784,280 (GRCm39)	missense	probably damaging	1.00
PIT1430001:Synj1	UTSW	16	90,761,396 (GRCm39)	missense	probably damaging	1.00
R0179:Synj1	UTSW	16	90,761,519 (GRCm39)	missense	possibly damaging	0.80
R0396:Synj1	UTSW	16	90,735,528 (GRCm39)	missense	probably benign
R0426:Synj1	UTSW	16	90,764,242 (GRCm39)	missense	probably damaging	1.00
R0486:Synj1	UTSW	16	90,735,151 (GRCm39)	utr 3 prime	probably benign
R0515:Synj1	UTSW	16	90,790,910 (GRCm39)	missense	possibly damaging	0.93
R0535:Synj1	UTSW	16	90,744,975 (GRCm39)	missense	possibly damaging	0.80
R0697:Synj1	UTSW	16	90,757,503 (GRCm39)	missense	probably benign	0.44
R0698:Synj1	UTSW	16	90,757,503 (GRCm39)	missense	probably benign	0.44
R0945:Synj1	UTSW	16	90,757,333 (GRCm39)	missense	possibly damaging	0.90
R1327:Synj1	UTSW	16	90,743,743 (GRCm39)	missense	probably benign	0.05
R1562:Synj1	UTSW	16	90,784,290 (GRCm39)	missense	probably benign	0.09
R1732:Synj1	UTSW	16	90,761,118 (GRCm39)	missense	probably damaging	0.99
R1752:Synj1	UTSW	16	90,735,361 (GRCm39)	missense	probably benign
R1785:Synj1	UTSW	16	90,761,405 (GRCm39)	missense	probably damaging	1.00
R1786:Synj1	UTSW	16	90,761,405 (GRCm39)	missense	probably damaging	1.00
R2011:Synj1	UTSW	16	90,735,584 (GRCm39)	missense	probably damaging	1.00
R2012:Synj1	UTSW	16	90,735,584 (GRCm39)	missense	probably damaging	1.00
R2065:Synj1	UTSW	16	90,788,537 (GRCm39)	critical splice acceptor site	probably null
R2862:Synj1	UTSW	16	90,766,217 (GRCm39)	missense	probably damaging	1.00
R3026:Synj1	UTSW	16	90,775,622 (GRCm39)	missense	probably damaging	1.00
R3151:Synj1	UTSW	16	90,757,514 (GRCm39)	missense	probably damaging	0.96
R3946:Synj1	UTSW	16	90,806,984 (GRCm39)	missense	possibly damaging	0.48
R3971:Synj1	UTSW	16	90,788,491 (GRCm39)	missense	probably damaging	1.00
R4472:Synj1	UTSW	16	90,766,069 (GRCm39)	critical splice donor site	probably null
R4547:Synj1	UTSW	16	90,785,170 (GRCm39)	missense	possibly damaging	0.51
R4647:Synj1	UTSW	16	90,770,877 (GRCm39)	missense	probably damaging	1.00
R4739:Synj1	UTSW	16	90,752,307 (GRCm39)	missense	probably benign	0.00
R5027:Synj1	UTSW	16	90,737,407 (GRCm39)	splice site	probably null
R5428:Synj1	UTSW	16	90,788,406 (GRCm39)	missense	probably damaging	0.98
R5586:Synj1	UTSW	16	90,806,865 (GRCm39)	intron	probably benign
R5769:Synj1	UTSW	16	90,735,141 (GRCm39)	utr 3 prime	probably benign
R6005:Synj1	UTSW	16	90,766,174 (GRCm39)	missense	probably damaging	1.00
R6119:Synj1	UTSW	16	90,735,877 (GRCm39)	missense	probably benign	0.30
R6313:Synj1	UTSW	16	90,743,703 (GRCm39)	missense	probably benign	0.00
R6324:Synj1	UTSW	16	90,735,518 (GRCm39)	missense	probably benign	0.00
R6549:Synj1	UTSW	16	90,735,565 (GRCm39)	missense	probably benign
R6696:Synj1	UTSW	16	90,757,340 (GRCm39)	missense	probably damaging	0.98
R6698:Synj1	UTSW	16	90,757,340 (GRCm39)	missense	probably damaging	0.98
R6861:Synj1	UTSW	16	90,760,768 (GRCm39)	nonsense	probably null
R7008:Synj1	UTSW	16	90,790,833 (GRCm39)	missense	probably damaging	1.00
R7153:Synj1	UTSW	16	90,744,978 (GRCm39)	missense	probably benign	0.04
R7393:Synj1	UTSW	16	90,748,887 (GRCm39)	missense	probably damaging	0.99
R7510:Synj1	UTSW	16	90,735,565 (GRCm39)	missense	probably benign
R7560:Synj1	UTSW	16	90,737,371 (GRCm39)	missense	probably benign
R7724:Synj1	UTSW	16	90,758,387 (GRCm39)	missense	probably damaging	0.99
R7913:Synj1	UTSW	16	90,788,315 (GRCm39)	missense	possibly damaging	0.83
R8326:Synj1	UTSW	16	90,785,084 (GRCm39)	missense	probably benign	0.12
R8707:Synj1	UTSW	16	90,752,319 (GRCm39)	missense	probably benign	0.02
R8711:Synj1	UTSW	16	90,806,971 (GRCm39)	missense	probably damaging	0.98
R8767:Synj1	UTSW	16	90,758,406 (GRCm39)	missense	probably damaging	1.00
R8911:Synj1	UTSW	16	90,775,622 (GRCm39)	missense	probably damaging	1.00
R9052:Synj1	UTSW	16	90,735,728 (GRCm39)	missense	probably benign	0.00
R9124:Synj1	UTSW	16	90,735,513 (GRCm39)	missense	probably benign	0.00
R9307:Synj1	UTSW	16	90,785,095 (GRCm39)	missense	probably damaging	0.98
R9408:Synj1	UTSW	16	90,741,740 (GRCm39)	missense	probably benign	0.27
R9458:Synj1	UTSW	16	90,766,200 (GRCm39)	missense	probably benign	0.05
R9567:Synj1	UTSW	16	90,790,912 (GRCm39)	missense	possibly damaging	0.79
R9651:Synj1	UTSW	16	90,757,343 (GRCm39)	missense	possibly damaging	0.56
R9651:Synj1	UTSW	16	90,735,412 (GRCm39)	missense	probably benign	0.00
R9707:Synj1	UTSW	16	90,758,300 (GRCm39)	missense	possibly damaging	0.91
R9730:Synj1	UTSW	16	90,757,552 (GRCm39)	missense	probably damaging	0.98
R9732:Synj1	UTSW	16	90,761,414 (GRCm39)	missense	probably damaging	1.00
Z1176:Synj1	UTSW	16	90,784,228 (GRCm39)	missense	probably damaging	1.00

Posted On

2013-06-21