Mutagenetix > Incidental Mutations

Incidental Mutation 'R5027:Synj1'

391477

Institutional Source

Beutler Lab

Gene Symbol

Synj1

Ensembl Gene

ENSMUSG00000022973

Gene Name

synaptojanin 1

Synonyms

MMRRC Submission

042618-MU

Accession Numbers

Is this an essential gene?

Essential (E-score: 1.000) question?

Stock #

R5027 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

90936092-91011308 bp(-) (GRCm38)

Type of Mutation

intron

DNA Base Change (assembly)

A to T at 90940519 bp

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000128997 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000121759] [ENSMUST00000129743] [ENSMUST00000170853]

Predicted Effect

probably null
Transcript: ENSMUST00000118390

SMART Domains

Protein: ENSMUSP00000113518
Gene: ENSMUSG00000022973

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

SMART Domains

Protein: ENSMUSP00000113308
Gene: ENSMUSG00000022973

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: ENSMUST00000125032

SMART Domains

Protein: ENSMUSP00000120399
Gene: ENSMUSG00000022973

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

noncoding transcript
Transcript: ENSMUST00000129041

Predicted Effect

probably null
Transcript: ENSMUST00000129743

SMART Domains

Protein: ENSMUSP00000123231
Gene: ENSMUSG00000022973

Domain	Start	End	E-Value	Type
low complexity region	69	101	N/A	INTRINSIC

Predicted Effect

probably null
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 null
Transcript: ENSMUST00000170853

SMART Domains

Protein: ENSMUSP00000128997
Gene: ENSMUSG00000022973

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

probably benign
Transcript: ENSMUST00000231524

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000232326

Meta Mutation Damage Score

0.9755

Coding Region Coverage

1x: 99.1%
3x: 98.4%
10x: 96.4%
20x: 92.6%

Validation Efficiency

97% (97/100)

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: 85 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700016K19Rik	A	G	11: 76,000,221	K54E	probably damaging	Het
Abca14	T	G	7: 120,312,282	I1363R	probably benign	Het
Abcc1	T	C	16: 14,404,053		probably null	Het
Adgrf1	T	A	17: 43,303,747	F241I	probably damaging	Het
Afg3l1	T	C	8: 123,489,814	M264T	probably benign	Het
Ankle1	T	C	8: 71,408,979	S434P	probably damaging	Het
Apoe	C	T	7: 19,697,015	A101T	probably damaging	Het
Apol11a	G	T	15: 77,516,953	K213N	probably damaging	Het
Asap2	A	G	12: 21,204,081	M198V	probably damaging	Het
Atg4b	C	T	1: 93,786,575	A360V	probably benign	Het
B3gnt5	T	A	16: 19,769,694	V221D	probably damaging	Het
Baz2b	A	T	2: 60,098,644		probably benign	Het
Cep350	C	A	1: 155,933,354	W492L	probably benign	Het
Cln6	A	G	9: 62,847,093	Y139C	probably damaging	Het
Col16a1	C	T	4: 130,079,195	T643M	probably benign	Het
Cul9	C	T	17: 46,500,782	E2507K	probably damaging	Het
Ddx58	T	A	4: 40,208,845	M756L	probably benign	Het
Dgkz	A	T	2: 91,945,543	V125D	probably benign	Het
Dnah17	T	C	11: 118,102,539	M1127V	probably benign	Het
Dnajb1	C	A	8: 83,610,103	D67E	probably benign	Het
Dync1li1	A	G	9: 114,713,544	D258G	probably damaging	Het
Egflam	G	T	15: 7,253,644	P311T	probably benign	Het
Fbxw11	T	A	11: 32,652,811		probably benign	Het
Fn3krp	T	G	11: 121,429,448	D206E	probably benign	Het
Fsip2	A	G	2: 82,989,133	H5070R	possibly damaging	Het
Gm6169	A	G	13: 97,099,140	I33T	probably benign	Het
Gm6605	T	C	7: 38,450,259		noncoding transcript	Het
Gna14	C	A	19: 16,603,272	T158K	probably benign	Het
Gstt2	A	T	10: 75,831,892	I243N	probably damaging	Het
Haus6	C	T	4: 86,605,696	D50N	possibly damaging	Het
Hcrtr2	A	G	9: 76,323,296	I70T	probably benign	Het
Herc1	G	A	9: 66,473,529	V3563I	probably benign	Het
Herc1	A	T	9: 66,504,618	I4707F	probably damaging	Het
Hic2	C	T	16: 17,258,747	A480V	possibly damaging	Het
Hsd17b3	A	G	13: 64,062,906	Y212H	probably damaging	Het
Hspa5	A	G	2: 34,775,815	K557R	probably damaging	Het
Iqch	T	C	9: 63,525,012	E367G	possibly damaging	Het
Itgb4	C	T	11: 115,984,157	R447W	probably benign	Het
Lars2	A	G	9: 123,441,495	M551V	probably benign	Het
Lbp	T	C	2: 158,308,726	I57T	possibly damaging	Het
Litaf	T	C	16: 10,961,004	Q142R	possibly damaging	Het
Lpar5	G	C	6: 125,082,147	R277P	possibly damaging	Het
Muc6	T	A	7: 141,636,436	I2710F	probably benign	Het
Myo7b	T	A	18: 31,975,212	I1199F	probably benign	Het
Naca	A	C	10: 128,048,121	E2140D	possibly damaging	Het
Nup214	G	T	2: 31,991,317	G396C	probably damaging	Het
Olfr1052	G	A	2: 86,298,196	V127I	possibly damaging	Het
Olfr259	T	A	2: 87,107,806	I194F	probably benign	Het
Olfr56	A	T	11: 49,134,624	Q144L	probably benign	Het
Olfr853	A	G	9: 19,537,277	Y218H	probably damaging	Het
Olfr983	A	T	9: 40,092,394	S187T	probably damaging	Het
P4htm	A	G	9: 108,579,293	V436A	probably benign	Het
Pfkm	A	G	15: 98,119,426	I117V	possibly damaging	Het
Phlpp1	T	G	1: 106,281,471	V518G	probably damaging	Het
Piwil4	G	A	9: 14,709,944	L598F	probably damaging	Het
Polr1b	T	G	2: 129,123,883	I815R	possibly damaging	Het
Ppef2	T	C	5: 92,234,291	N515S	probably damaging	Het
Prpsap2	G	T	11: 61,741,004		probably null	Het
Rab27a	A	G	9: 73,095,413	D208G	probably benign	Het
Ralgds	A	G	2: 28,552,090		probably null	Het
Raph1	C	A	1: 60,496,277	C540F	probably damaging	Het
Rbsn	A	G	6: 92,198,250	L281P	probably damaging	Het
Rmdn1	G	T	4: 19,588,533	G110*	probably null	Het
Rph3a	T	A	5: 120,954,449	E363V	possibly damaging	Het
Serpina16	G	T	12: 103,675,003	Y154*	probably null	Het
Sh2d3c	G	A	2: 32,744,802	E198K	possibly damaging	Het
Shank2	C	A	7: 144,259,105	Y663*	probably null	Het
Sharpin	T	C	15: 76,350,025		probably benign	Het
Slitrk1	G	A	14: 108,912,308	P324S	probably benign	Het
Sorbs2	T	A	8: 45,746,534		probably null	Het
Spag16	C	T	1: 69,923,804		probably benign	Het
Sycp2l	A	T	13: 41,129,771		probably null	Het
Sytl1	T	C	4: 133,256,219		probably benign	Het
Tkfc	A	T	19: 10,592,659		probably null	Het
Tnn	T	C	1: 160,145,211	T274A	probably damaging	Het
Trav14-2	T	A	14: 53,641,048	W35R	probably damaging	Het
Trim72	T	C	7: 128,007,965	M222T	probably damaging	Het
Trim9	A	G	12: 70,346,708	V154A	probably damaging	Het
Ttc7b	T	C	12: 100,301,742	Y266C	probably damaging	Het
Uchl3	T	A	14: 101,666,546	I43K	possibly damaging	Het
Vdac1	T	A	11: 52,388,478	N269K	possibly damaging	Het
Wdr72	T	A	9: 74,145,976	W187R	probably damaging	Het
Zfp30	T	A	7: 29,793,066	C248*	probably null	Het
Zfp940	A	T	7: 29,850,956		probably benign	Het
Zfp980	G	A	4: 145,702,083	G461S	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
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
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

Predicted Primers

PCR Primer
(F):5'- AGGCACTGGAAGGCTTTCTAAG -3'
(R):5'- AGCACACGTCCTAAGGTTAC -3'

Sequencing Primer
(F):5'- TACTAGAAGGTATTAATGAGGACGAG -3'
(R):5'- CGTCCTAAGGTTACAAGGAGACC -3'

Posted On

2016-06-06