Mutagenetix > Incidental Mutation

Incidental Mutation 'R6084:Synj2'

482425

Institutional Source

Beutler Lab

Gene Symbol

Synj2

Ensembl Gene

ENSMUSG00000023805

Gene Name

synaptojanin 2

Synonyms

SJ2

MMRRC Submission

044243-MU

Accession Numbers

Genbank: NM_001113353.1, NM_001113352.1, NM_011523.2, NM_001113351.1

Essential gene?

Probably non essential (E-score: 0.152) question?

Stock #

R6084 (G1)

Quality Score

149.008

Status

Not validated

Chromosome

Chromosomal Location

5941280-6044290 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 6038098 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Serine at position 1430 (T1430S)

Ref Sequence

ENSEMBL: ENSMUSP00000079164 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000061091] [ENSMUST00000080283] [ENSMUST00000097432] [ENSMUST00000115785] [ENSMUST00000115787] [ENSMUST00000115788] [ENSMUST00000115789] [ENSMUST00000115790] [ENSMUST00000115791] [ENSMUST00000126881] [ENSMUST00000134767] [ENSMUST00000154114]

AlphaFold

Q9D2G5

Predicted Effect

probably benign
Transcript: ENSMUST00000061091

SMART Domains

Protein: ENSMUSP00000060382
Gene: ENSMUSG00000023805

Domain	Start	End	E-Value	Type
Pfam:Syja_N	1	263	2.5e-72	PFAM
Blast:IPPc	394	423	3e-6	BLAST
IPPc	443	785	3.72e-128	SMART
DUF1866	778	923	1.04e-73	SMART
low complexity region	926	940	N/A	INTRINSIC
low complexity region	965	976	N/A	INTRINSIC
low complexity region	1012	1027	N/A	INTRINSIC
low complexity region	1127	1139	N/A	INTRINSIC

Predicted Effect

probably damaging
Transcript: ENSMUST00000080283
AA Change: T1430S

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000079164
Gene: ENSMUSG00000023805
AA Change: T1430S

Domain	Start	End	E-Value	Type
Pfam:Syja_N	60	348	5.5e-78	PFAM
Blast:IPPc	479	508	3e-6	BLAST
IPPc	528	870	3.72e-128	SMART
DUF1866	863	1008	1.04e-73	SMART
low complexity region	1011	1025	N/A	INTRINSIC
low complexity region	1050	1061	N/A	INTRINSIC
low complexity region	1167	1179	N/A	INTRINSIC
low complexity region	1217	1234	N/A	INTRINSIC
low complexity region	1263	1277	N/A	INTRINSIC
low complexity region	1293	1306	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000097432

SMART Domains

Protein: ENSMUSP00000095043
Gene: ENSMUSG00000015659

Domain	Start	End	E-Value	Type
transmembrane domain	32	54	N/A	INTRINSIC
SCOP:d1gw5a_	89	464	3e-6	SMART

Predicted Effect

possibly damaging
Transcript: ENSMUST00000115785
AA Change: T1114S

PolyPhen 2 Score 0.943 (Sensitivity: 0.80; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000111451
Gene: ENSMUSG00000023805
AA Change: T1114S

Domain	Start	End	E-Value	Type
PDB:3LWT\|X	9	171	4e-12	PDB
Blast:IPPc	163	192	2e-6	BLAST
IPPc	212	554	3.72e-128	SMART
DUF1866	547	692	1.04e-73	SMART
low complexity region	695	709	N/A	INTRINSIC
low complexity region	734	745	N/A	INTRINSIC
low complexity region	851	863	N/A	INTRINSIC
low complexity region	901	918	N/A	INTRINSIC
low complexity region	947	961	N/A	INTRINSIC
low complexity region	977	990	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000115787

SMART Domains

Protein: ENSMUSP00000111453
Gene: ENSMUSG00000023805

Domain	Start	End	E-Value	Type
Pfam:Syja_N	1	108	5.7e-28	PFAM
Blast:IPPc	239	268	2e-6	BLAST
IPPc	288	630	3.72e-128	SMART
DUF1866	623	768	1.04e-73	SMART
low complexity region	771	785	N/A	INTRINSIC
low complexity region	810	821	N/A	INTRINSIC
low complexity region	927	939	N/A	INTRINSIC
low complexity region	977	994	N/A	INTRINSIC
low complexity region	1023	1037	N/A	INTRINSIC
low complexity region	1053	1066	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000115788

SMART Domains

Protein: ENSMUSP00000111454
Gene: ENSMUSG00000023805

Domain	Start	End	E-Value	Type
Pfam:Syja_N	1	108	4.8e-28	PFAM
Blast:IPPc	239	268	2e-6	BLAST
IPPc	288	630	3.72e-128	SMART
DUF1866	623	768	1.04e-73	SMART
low complexity region	771	785	N/A	INTRINSIC
low complexity region	810	821	N/A	INTRINSIC
low complexity region	927	939	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000115789

SMART Domains

Protein: ENSMUSP00000111455
Gene: ENSMUSG00000023805

Domain	Start	End	E-Value	Type
Pfam:Syja_N	1	187	2.3e-60	PFAM
Blast:IPPc	318	347	2e-6	BLAST
IPPc	367	709	3.72e-128	SMART
DUF1866	702	847	1.04e-73	SMART
low complexity region	850	864	N/A	INTRINSIC
low complexity region	889	900	N/A	INTRINSIC
low complexity region	1006	1018	N/A	INTRINSIC
low complexity region	1056	1073	N/A	INTRINSIC
low complexity region	1102	1116	N/A	INTRINSIC
low complexity region	1132	1145	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000115790
AA Change: T1390S

PolyPhen 2 Score 0.444 (Sensitivity: 0.89; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000111456
Gene: ENSMUSG00000023805
AA Change: T1390S

Domain	Start	End	E-Value	Type
Pfam:Syja_N	1	263	3e-72	PFAM
Blast:IPPc	394	423	3e-6	BLAST
IPPc	443	785	3.72e-128	SMART
DUF1866	778	923	1.04e-73	SMART
low complexity region	926	940	N/A	INTRINSIC
low complexity region	965	976	N/A	INTRINSIC
low complexity region	1012	1027	N/A	INTRINSIC
low complexity region	1127	1139	N/A	INTRINSIC
low complexity region	1177	1194	N/A	INTRINSIC
low complexity region	1223	1237	N/A	INTRINSIC
low complexity region	1253	1266	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000115791
AA Change: T1475S

PolyPhen 2 Score 0.444 (Sensitivity: 0.89; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000111457
Gene: ENSMUSG00000023805
AA Change: T1475S

Domain	Start	End	E-Value	Type
Pfam:Syja_N	61	343	8.5e-67	PFAM
Blast:IPPc	479	508	3e-6	BLAST
IPPc	528	870	3.72e-128	SMART
DUF1866	863	1008	1.04e-73	SMART
low complexity region	1011	1025	N/A	INTRINSIC
low complexity region	1050	1061	N/A	INTRINSIC
low complexity region	1097	1112	N/A	INTRINSIC
low complexity region	1212	1224	N/A	INTRINSIC
low complexity region	1262	1279	N/A	INTRINSIC
low complexity region	1308	1322	N/A	INTRINSIC
low complexity region	1338	1351	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000126881

SMART Domains

Protein: ENSMUSP00000115371
Gene: ENSMUSG00000023805

Domain	Start	End	E-Value	Type
DUF1866	16	161	1.04e-73	SMART
low complexity region	164	178	N/A	INTRINSIC
low complexity region	203	214	N/A	INTRINSIC
low complexity region	320	332	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000134767

Predicted Effect

probably benign
Transcript: ENSMUST00000154114

SMART Domains

Protein: ENSMUSP00000122316
Gene: ENSMUSG00000023805

Domain	Start	End	E-Value	Type
IPPc	6	348	3.72e-128	SMART
DUF1866	341	486	1.04e-73	SMART
low complexity region	489	503	N/A	INTRINSIC
low complexity region	528	539	N/A	INTRINSIC
low complexity region	645	657	N/A	INTRINSIC
low complexity region	678	694	N/A	INTRINSIC

Coding Region Coverage

1x: 99.9%
3x: 99.6%
10x: 98.2%
20x: 94.8%

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The gene is a member of the inositol-polyphosphate 5-phosphatase family. The encoded protein interacts with the ras-related C3 botulinum toxin substrate 1, which causes translocation of the encoded protein to the plasma membrane where it inhibits clathrin-mediated endocytosis. Alternative splicing results in multiple transcript variants. [provided by RefSeq, May 2010]
PHENOTYPE: Homozygotes for an ENU-induced allele show progressive hearing loss and cochlear hair cell degeneration associated with fusion of stereocilia followed by total loss of hair bundles and cochlear ganglion degeneration. No vestibular dysfunction or other behavioral deficits are observed. [provided by MGI curators]

Allele List at MGI

All alleles(5) : Targeted, other(1) Gene trapped(4)

Other mutations in this stock

Total: 83 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Arap2	T	C	5: 62,670,954	D958G	possibly damaging	Het
Bag4	T	C	8: 25,771,231	T161A	probably benign	Het
Bora	A	T	14: 99,062,294	Q234L	possibly damaging	Het
Cacna2d2	T	C	9: 107,497,521		probably null	Het
Cass4	G	T	2: 172,426,912	A307S	probably benign	Het
Cbln4	A	T	2: 172,042,096	V68E	probably damaging	Het
Cc2d2a	T	A	5: 43,668,673	N2K	probably benign	Het
Ccnf	T	A	17: 24,231,837	D389V	probably damaging	Het
Cdipt	T	C	7: 126,979,601	S161P	probably benign	Het
Ceacam19	T	C	7: 19,882,887	I161V	probably benign	Het
Cfap65	A	G	1: 74,920,405	I862T	probably damaging	Het
Cfi	T	A	3: 129,858,370	L230Q	probably benign	Het
Chac2	G	A	11: 30,986,159	R30W	probably damaging	Het
Cmc2	G	A	8: 116,889,827		probably benign	Het
Col1a2	A	T	6: 4,505,840	M1L	probably benign	Het
Cox8a	C	A	19: 7,217,418	R32L	possibly damaging	Het
Cubn	T	A	2: 13,430,897	N1083Y	probably damaging	Het
D430042O09Rik	G	A	7: 125,814,865	G394R	probably benign	Het
D630003M21Rik	T	C	2: 158,217,584	D132G	probably damaging	Het
Dedd2	G	A	7: 25,211,290	P154S	probably benign	Het
Dnaaf3	T	C	7: 4,524,213	D358G	probably benign	Het
Dysf	T	A	6: 84,019,604	F29L	probably damaging	Het
Dysf	T	C	6: 84,112,119	L888P	probably damaging	Het
Ebf4	A	G	2: 130,309,723	D277G	probably damaging	Het
Ecm2	T	A	13: 49,515,094	L91*	probably null	Het
Foxs1	T	C	2: 152,932,842	D97G	possibly damaging	Het
Frs2	A	C	10: 117,076,809		probably null	Het
Gm6768	A	G	12: 119,261,651		noncoding transcript	Het
Grp	A	T	18: 65,879,937	D58V	probably damaging	Het
Hif1a	T	G	12: 73,941,842	F537C	probably damaging	Het
Icam4	G	A	9: 21,029,539	S29N	probably benign	Het
Itfg1	T	C	8: 85,726,170	E523G	probably benign	Het
Jph2	T	C	2: 163,375,680	K359E	probably damaging	Het
Kcnq2	A	T	2: 181,087,656	V490E	possibly damaging	Het
Klhl18	C	T	9: 110,428,727	M548I	possibly damaging	Het
Lpin3	A	G	2: 160,895,801	Y197C	probably benign	Het
Lrp1	T	C	10: 127,560,553	N2381D	probably benign	Het
Man1a	A	T	10: 53,919,211	W649R	probably damaging	Het
Map4	T	C	9: 110,064,292	L542P	probably damaging	Het
Mboat2	A	T	12: 24,878,285	H52L	probably damaging	Het
Mok	C	G	12: 110,814,946	S91T	probably benign	Het
Mtmr11	G	T	3: 96,168,084	R360L	probably damaging	Het
Myt1l	G	A	12: 29,832,332	G509R	unknown	Het
Olfr1288	A	T	2: 111,479,389	N202Y	probably damaging	Het
Olfr341	A	G	2: 36,479,512	V206A	probably benign	Het
Olfr544	T	C	7: 102,484,389	T244A	probably damaging	Het
Olfr67	C	T	7: 103,787,955	M107I	probably benign	Het
Olfr836	A	G	9: 19,121,327	D121G	probably damaging	Het
Olfr867	A	T	9: 20,054,883	H75Q	possibly damaging	Het
Padi3	G	T	4: 140,795,843	T292N	probably damaging	Het
Pard6g	A	C	18: 80,117,205	T178P	possibly damaging	Het
Pkd1l2	A	T	8: 117,013,987	Y2124N	probably damaging	Het
Plxdc1	G	A	11: 97,928,463	T398I	probably damaging	Het
Prickle2	A	T	6: 92,416,848	C225*	probably null	Het
Prmt2	G	A	10: 76,210,444	T317I	probably benign	Het
Psg22	T	G	7: 18,719,780	N172K	probably benign	Het
Ptpn9	C	T	9: 57,033,163	R196*	probably null	Het
Rap1b	C	T	10: 117,824,611	V14I	probably damaging	Het
Rapgef4	T	A	2: 72,196,278		probably null	Het
Rlf	A	T	4: 121,149,215	M856K	possibly damaging	Het
Rnf149	A	G	1: 39,577,174	L34P	probably benign	Het
Rock1	T	C	18: 10,101,007	E636G	probably benign	Het
Rsad2	A	T	12: 26,454,123	Y136N	probably damaging	Het
Ryr3	T	C	2: 112,908,493	H563R	probably damaging	Het
Slc18b1	A	G	10: 23,804,212	M102V	probably benign	Het
Slc34a2	T	A	5: 53,067,647	C377S	possibly damaging	Het
Slco1c1	T	C	6: 141,546,770	V293A	probably benign	Het
Spidr	A	T	16: 16,140,024	S80T	possibly damaging	Het
Syne1	C	T	10: 5,348,994	E1031K	probably damaging	Het
Tecpr2	G	T	12: 110,929,109	K343N	probably damaging	Het
Tmem132d	T	A	5: 127,784,100	I986F	probably benign	Het
Trib1	G	A	15: 59,654,475	R298H	probably damaging	Het
Ttll10	T	A	4: 156,045,357	D283V	probably benign	Het
Ttn	T	A	2: 76,814,779	K673*	probably null	Het
Ubqlnl	T	A	7: 104,148,698	M531L	probably benign	Het
Vmn2r120	A	T	17: 57,525,721	W153R	probably benign	Het
Vmn2r2	A	C	3: 64,117,046	S705A	probably benign	Het
Vmn2r32	T	A	7: 7,464,210	D773V	probably benign	Het
Vmn2r54	T	A	7: 12,632,278	Q243L	probably damaging	Het
Wdr24	C	A	17: 25,824,530	R109S	probably damaging	Het
Zfp113	T	C	5: 138,145,668	M107V	probably benign	Het
Zfp426	G	T	9: 20,470,627	Q341K	possibly damaging	Het
Zfp616	A	T	11: 74,083,846	K314*	probably null	Het

Other mutations in Synj2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01067:Synj2	APN	17	6037926	missense	possibly damaging	0.48
IGL01399:Synj2	APN	17	6009771	missense	probably damaging	1.00
IGL01793:Synj2	APN	17	6027225	nonsense	probably null
IGL01793:Synj2	APN	17	6038046	missense	probably benign	0.01
IGL02096:Synj2	APN	17	5990353	missense	probably damaging	1.00
IGL02115:Synj2	APN	17	6017590	missense	probably damaging	1.00
IGL02222:Synj2	APN	17	6037480	missense	probably benign	0.04
IGL02478:Synj2	APN	17	6037924	missense	probably benign	0.00
IGL02634:Synj2	APN	17	6029760	missense	probably damaging	1.00
IGL02652:Synj2	APN	17	6017593	missense	probably damaging	1.00
IGL02681:Synj2	APN	17	5990336	missense	probably damaging	1.00
IGL02719:Synj2	APN	17	5996917	missense	probably benign	0.02
IGL03253:Synj2	APN	17	6003159	splice site	probably null
IGL03365:Synj2	APN	17	6019404	missense	probably damaging	1.00
I2288:Synj2	UTSW	17	6022267	splice site	probably benign
I2289:Synj2	UTSW	17	6022267	splice site	probably benign
R0389:Synj2	UTSW	17	6029783	missense	probably benign	0.35
R0433:Synj2	UTSW	17	6033848	missense	probably damaging	1.00
R0530:Synj2	UTSW	17	6008105	missense	possibly damaging	0.88
R0539:Synj2	UTSW	17	5996888	start codon destroyed	probably null	0.63
R0556:Synj2	UTSW	17	6037955	nonsense	probably null
R1263:Synj2	UTSW	17	6019359	missense	probably damaging	0.99
R1443:Synj2	UTSW	17	6023665	missense	probably damaging	0.99
R1450:Synj2	UTSW	17	6027324	splice site	probably benign
R1532:Synj2	UTSW	17	6033919	missense	probably benign	0.00
R1542:Synj2	UTSW	17	6025017	missense	probably benign	0.01
R1809:Synj2	UTSW	17	6026551	missense	possibly damaging	0.95
R1875:Synj2	UTSW	17	6028550	missense	possibly damaging	0.69
R1897:Synj2	UTSW	17	6022137	nonsense	probably null
R1928:Synj2	UTSW	17	5990267	missense	probably damaging	0.99
R2008:Synj2	UTSW	17	5996946	missense	probably damaging	1.00
R2060:Synj2	UTSW	17	6037480	missense	probably benign	0.04
R2109:Synj2	UTSW	17	6013691	missense	probably benign	0.00
R2332:Synj2	UTSW	17	6023794	missense	probably damaging	0.99
R2413:Synj2	UTSW	17	6028574	missense	probably damaging	1.00
R3684:Synj2	UTSW	17	6028443	missense	probably damaging	0.97
R4111:Synj2	UTSW	17	6007965	missense	probably benign	0.02
R4113:Synj2	UTSW	17	6007965	missense	probably benign	0.02
R4654:Synj2	UTSW	17	6013538	missense	probably damaging	1.00
R4797:Synj2	UTSW	17	6033888	missense	probably damaging	1.00
R4812:Synj2	UTSW	17	6010664	missense	probably damaging	1.00
R4873:Synj2	UTSW	17	5988068	intron	probably benign
R4875:Synj2	UTSW	17	5988068	intron	probably benign
R5110:Synj2	UTSW	17	6037715	missense	probably benign	0.06
R5205:Synj2	UTSW	17	5941518	missense	probably damaging	1.00
R5504:Synj2	UTSW	17	6036475	missense	possibly damaging	0.85
R5593:Synj2	UTSW	17	6038115	makesense	probably null
R5690:Synj2	UTSW	17	6035527	missense	probably benign	0.00
R5870:Synj2	UTSW	17	6037853	missense	probably benign	0.00
R6084:Synj2	UTSW	17	6017614	missense	probably damaging	0.98
R6158:Synj2	UTSW	17	5986212	missense	probably benign	0.00
R6159:Synj2	UTSW	17	5986052	missense	probably damaging	1.00
R6160:Synj2	UTSW	17	6008061	missense	possibly damaging	0.92
R6278:Synj2	UTSW	17	5975874	missense	probably damaging	1.00
R6406:Synj2	UTSW	17	6019571	intron	probably benign
R6531:Synj2	UTSW	17	6033839	missense	probably damaging	1.00
R6729:Synj2	UTSW	17	5986014	start codon destroyed	probably null	1.00
R6774:Synj2	UTSW	17	6038015	missense	possibly damaging	0.87
R6792:Synj2	UTSW	17	5990290	missense	probably benign	0.01
R6844:Synj2	UTSW	17	5975806	missense	probably damaging	0.96
R6865:Synj2	UTSW	17	6017569	nonsense	probably null
R7178:Synj2	UTSW	17	6026479	missense	possibly damaging	0.95
R7286:Synj2	UTSW	17	6037945	missense	possibly damaging	0.79
R7403:Synj2	UTSW	17	6037730	missense	possibly damaging	0.76
R7451:Synj2	UTSW	17	6029791	missense	possibly damaging	0.68
R7501:Synj2	UTSW	17	5990239	missense	possibly damaging	0.79
R7730:Synj2	UTSW	17	6016287	missense	probably benign	0.33
R7799:Synj2	UTSW	17	6037823	missense	probably benign	0.10
R7804:Synj2	UTSW	17	6019534	missense	unknown
R7841:Synj2	UTSW	17	6044144	missense	unknown
R8347:Synj2	UTSW	17	6009785	missense	probably damaging	1.00
R8358:Synj2	UTSW	17	6023805	nonsense	probably null
R8391:Synj2	UTSW	17	5941521	missense	probably damaging	0.99
R8725:Synj2	UTSW	17	6037740	missense	possibly damaging	0.48
R8787:Synj2	UTSW	17	5986239	missense	possibly damaging	0.57
R8877:Synj2	UTSW	17	6037666	missense	probably damaging	1.00
R9091:Synj2	UTSW	17	6017600	missense	possibly damaging	0.88
R9121:Synj2	UTSW	17	5990324	missense	probably damaging	1.00
R9147:Synj2	UTSW	17	6033897	missense	probably damaging	1.00
R9148:Synj2	UTSW	17	6033897	missense	probably damaging	1.00
R9270:Synj2	UTSW	17	6017600	missense	possibly damaging	0.88
R9489:Synj2	UTSW	17	6013519	missense	probably benign	0.00
R9605:Synj2	UTSW	17	6013519	missense	probably benign	0.00
R9720:Synj2	UTSW	17	5990309	missense	probably benign
R9773:Synj2	UTSW	17	6043957	missense	probably benign	0.00

Predicted Primers

PCR Primer
(F):5'- ACCACCCTAAGCTGTTGAAC -3'
(R):5'- GCTGAATATCTGTACAGAGTGGC -3'

Posted On

2017-07-14