Mutagenetix > Incidental Mutations

Incidental Mutation 'R6005:Synj1'

479449

Institutional Source

Beutler Lab

Gene Symbol

Synj1

Ensembl Gene

ENSMUSG00000022973

Gene Name

synaptojanin 1

Synonyms

MMRRC Submission

Accession Numbers

Is this an essential gene?

Essential (E-score: 1.000) question?

Stock #

R6005 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

90936092-91011308 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 90969286 bp

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Lysine at position 541 (N541K)

Ref Sequence

ENSEMBL: ENSMUSP00000128997 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000121759] [ENSMUST00000130813] [ENSMUST00000170853] [ENSMUST00000231472]

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000118246

Predicted Effect

unknown
Transcript: ENSMUST00000118390
AA Change: N555K

SMART Domains

Protein: ENSMUSP00000113518
Gene: ENSMUSG00000022973
AA Change: N555K

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: N581K

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000113308
Gene: ENSMUSG00000022973
AA Change: N581K

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 damaging
Transcript: ENSMUST00000130813
AA Change: N536K

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000119712
Gene: ENSMUSG00000022973
AA Change: N536K

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 damaging
Transcript: ENSMUST00000170853
AA Change: N541K

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000128997
Gene: ENSMUSG00000022973
AA Change: N541K

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 damaging
Transcript: ENSMUST00000231472
AA Change: N20K

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

Coding Region Coverage

1x: 99.9%
3x: 99.4%
10x: 97.2%
20x: 90.9%

Validation Efficiency

99% (79/80)

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: 81 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2810006K23Rik	G	T	5: 124,340,774	E153*	probably null	Het
4930412O13Rik	T	C	2: 9,882,827		probably benign	Het
7530416G11Rik	A	T	15: 85,494,109	I111N	unknown	Het
Adgb	C	T	10: 10,395,352	R849H	probably damaging	Het
Ahnak	T	C	19: 9,015,161	V4603A	possibly damaging	Het
AI464131	T	A	4: 41,498,895	H245L	probably benign	Het
Ank1	A	G	8: 23,132,202	D1589G	probably damaging	Het
Ankrd2	A	G	19: 42,040,115	D70G	probably damaging	Het
Arid2	T	C	15: 96,370,972	S989P	probably benign	Het
Bbs1	A	T	19: 4,903,795	Y113*	probably null	Het
Bfsp2	T	G	9: 103,448,550	K298T	probably damaging	Het
Bpi	G	A	2: 158,262,480	V168I	possibly damaging	Het
Cacna2d1	T	C	5: 16,361,821	S921P	probably damaging	Het
Clec4d	A	C	6: 123,267,159	T76P	probably damaging	Het
Coq8b	C	T	7: 27,257,325	Q468*	probably null	Het
Dennd6b	T	C	15: 89,188,168	E248G	possibly damaging	Het
Ednra	A	G	8: 77,674,927	S245P	possibly damaging	Het
Epb41l4a	C	T	18: 33,828,143	C446Y	probably benign	Het
Fam221a	A	G	6: 49,367,822		probably benign	Het
Fam229a	T	C	4: 129,491,503	S76P	probably benign	Het
Fryl	C	T	5: 73,083,295	D1321N	probably damaging	Het
Gli2	C	T	1: 118,842,064	R586H	probably damaging	Het
Gm13089	T	A	4: 143,698,432	H147L	probably benign	Het
Gm94	C	T	18: 43,792,797	A16T	possibly damaging	Het
Gorasp2	T	C	2: 70,690,751	V355A	probably benign	Het
Grid1	C	A	14: 35,323,412	T404N	probably damaging	Het
Gtf2i	C	A	5: 134,255,958	E475*	probably null	Het
Gucy1a2	T	C	9: 3,865,518		probably null	Het
Hs3st5	T	A	10: 36,832,928	I153N	probably damaging	Het
Il11ra1	T	C	4: 41,763,887		probably null	Het
Ireb2	G	A	9: 54,908,805	G887S	probably damaging	Het
Kdsr	T	C	1: 106,734,581	E248G	probably benign	Het
Lemd2	C	G	17: 27,190,785	R464P	probably damaging	Het
Lrrfip1	T	C	1: 91,114,611	V246A	probably damaging	Het
Macf1	T	A	4: 123,474,275	D2231V	possibly damaging	Het
Map2k5	C	T	9: 63,281,019	D283N	probably damaging	Het
Mfsd5	A	G	15: 102,281,492	D433G	possibly damaging	Het
Mir700	C	A	4: 135,412,307		probably null	Het
Mroh9	A	T	1: 163,075,677	F52L	probably damaging	Het
Mycbp2	A	C	14: 103,156,723	S2691A	probably benign	Het
Nktr	T	A	9: 121,748,394		probably benign	Het
Obsl1	C	A	1: 75,492,215		probably null	Het
Olfr1130	A	T	2: 87,608,080	I231F	probably damaging	Het
Olfr251	T	C	9: 38,378,309	S137P	probably damaging	Het
Olfr259	A	G	2: 87,108,063	V108A	probably benign	Het
Olfr582	A	T	7: 103,041,646	I51F	probably damaging	Het
Olfr855	C	T	9: 19,584,885	T116I	probably benign	Het
Pcdhb22	T	A	18: 37,519,736	I162N	possibly damaging	Het
Pde1c	A	T	6: 56,479,202		probably null	Het
Pds5b	A	G	5: 150,769,776		probably null	Het
Pkd1l1	A	C	11: 8,857,113	W1568G	probably damaging	Het
Polr3c	A	T	3: 96,719,468	M258K	possibly damaging	Het
Prss12	A	T	3: 123,482,768	I349F	probably benign	Het
Ptpn21	A	G	12: 98,678,552	*1177Q	probably null	Het
Rgs22	T	A	15: 36,010,567	K1125M	probably benign	Het
Rnf182	A	G	13: 43,668,035	K21E	probably damaging	Het
Rpl6	G	A	5: 121,205,514		probably benign	Het
Samsn1	C	T	16: 75,873,514	V234I	probably benign	Het
Scrib	A	G	15: 76,057,751	I1089T	probably damaging	Het
Sec31a	T	C	5: 100,363,878	T1092A	probably damaging	Het
Sh3bp2	G	T	5: 34,562,465	R606L	possibly damaging	Het
Sipa1	A	G	19: 5,656,201	V367A	probably damaging	Het
Slc25a44	C	T	3: 88,412,846	E269K	probably damaging	Het
Slc44a4	T	A	17: 34,923,454	M353K	possibly damaging	Het
Sorcs2	A	G	5: 36,019,384	S1142P	probably damaging	Het
Sptbn4	A	G	7: 27,418,599	F352L	probably damaging	Het
Tas2r113	G	A	6: 132,893,696	R229K	probably benign	Het
Tcaf3	A	T	6: 42,589,971	I728K	probably benign	Het
Tcea1	A	G	1: 4,890,773	E167G	probably benign	Het
Timeless	G	A	10: 128,244,200	R406H	probably damaging	Het
Traf6	C	T	2: 101,696,684	R260*	probably null	Het
Traj31	C	T	14: 54,187,931		probably benign	Het
Ttn	A	T	2: 76,769,563	V19089D	probably damaging	Het
Unc80	C	T	1: 66,627,257	S1868L	possibly damaging	Het
Wdr38	A	T	2: 39,001,321	I287F	possibly damaging	Het
Wnt2	G	A	6: 18,030,323		probably benign	Het
Wnt5b	G	A	6: 119,433,654	P288L	probably benign	Het
Xkr5	G	T	8: 18,934,505	N174K	probably benign	Het
Zbtb6	C	T	2: 37,428,965	R317Q	probably damaging	Het
Zcchc7	AGGGG	AGGG	4: 44,931,218		probably null	Het
Zfp647	G	A	15: 76,912,085	P125L	probably damaging	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
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
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	not run
R8711:Synj1	UTSW	16	91010083	missense	not run
R8767:Synj1	UTSW	16	90961518	missense	probably damaging	1.00
Z1176:Synj1	UTSW	16	90987340	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- GCCGAGTTTCTGTTCTAAATTAGTG -3'
(R):5'- CTTGGCATTCAAGGCTGATCTC -3'

Sequencing Primer
(F):5'- TGAAGTGTCACATTGCAGTCAG -3'
(R):5'- AAGGCTGATCTCTCCCTTGTG -3'

Posted On

2017-06-26