Mutagenetix > Incidental Mutation

Incidental Mutation 'R1443:Synj2'

158681

Institutional Source

Beutler Lab

Gene Symbol

Synj2

Ensembl Gene

ENSMUSG00000023805

Gene Name

synaptojanin 2

Synonyms

SJ2

MMRRC Submission

039498-MU

Accession Numbers

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

Essential gene?

Probably non essential (E-score: 0.156) question?

Stock #

R1443 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

5941280-6044290 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 6023665 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Lysine to Glutamic Acid at position 245 (K245E)

Ref Sequence

ENSEMBL: ENSMUSP00000122316 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000061091] [ENSMUST00000080283] [ENSMUST00000115784] [ENSMUST00000115785] [ENSMUST00000115786] [ENSMUST00000115787] [ENSMUST00000115788] [ENSMUST00000115789] [ENSMUST00000115790] [ENSMUST00000115791] [ENSMUST00000126881] [ENSMUST00000134767] [ENSMUST00000154114] [ENSMUST00000146009] [ENSMUST00000142409]

AlphaFold

Q9D2G5

Predicted Effect

probably benign
Transcript: ENSMUST00000061091
AA Change: K682E

PolyPhen 2 Score 0.327 (Sensitivity: 0.90; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000060382
Gene: ENSMUSG00000023805
AA Change: K682E

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 benign
Transcript: ENSMUST00000080283
AA Change: K767E

PolyPhen 2 Score 0.072 (Sensitivity: 0.94; Specificity: 0.84)

SMART Domains

Protein: ENSMUSP00000079164
Gene: ENSMUSG00000023805
AA Change: K767E

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

noncoding transcript
Transcript: ENSMUST00000115784

SMART Domains

Protein: ENSMUSP00000111450
Gene: ENSMUSG00000023805

Domain	Start	End	E-Value	Type
PDB:3LWT\|X	9	171	3e-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

Predicted Effect

possibly damaging
Transcript: ENSMUST00000115785
AA Change: K451E

PolyPhen 2 Score 0.824 (Sensitivity: 0.84; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000111451
Gene: ENSMUSG00000023805
AA Change: K451E

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

probably benign
Transcript: ENSMUST00000115786

SMART Domains

Protein: ENSMUSP00000111452
Gene: ENSMUSG00000023805

Domain	Start	End	E-Value	Type
Pfam:Syja_N	1	108	5.3e-29	PFAM
Blast:IPPc	239	268	1e-6	BLAST
IPPc	288	525	6e-18	SMART

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

possibly damaging
Transcript: ENSMUST00000115790
AA Change: K682E

PolyPhen 2 Score 0.824 (Sensitivity: 0.84; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000111456
Gene: ENSMUSG00000023805
AA Change: K682E

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: K767E

PolyPhen 2 Score 0.072 (Sensitivity: 0.94; Specificity: 0.84)

SMART Domains

Protein: ENSMUSP00000111457
Gene: ENSMUSG00000023805
AA Change: K767E

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 damaging
Transcript: ENSMUST00000154114
AA Change: K245E

PolyPhen 2 Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000122316
Gene: ENSMUSG00000023805
AA Change: K245E

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

Predicted Effect

probably benign
Transcript: ENSMUST00000146009
AA Change: K767E

PolyPhen 2 Score 0.017 (Sensitivity: 0.95; Specificity: 0.80)

SMART Domains

Protein: ENSMUSP00000122381
Gene: ENSMUSG00000023805
AA Change: K767E

Domain	Start	End	E-Value	Type
Pfam:Syja_N	60	348	3.6e-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	1097	1112	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000142409
AA Change: K527E

PolyPhen 2 Score 0.101 (Sensitivity: 0.93; Specificity: 0.86)

SMART Domains

Protein: ENSMUSP00000120006
Gene: ENSMUSG00000023805
AA Change: K527E

Domain	Start	End	E-Value	Type
Pfam:Syja_N	1	108	2.5e-28	PFAM
Blast:IPPc	239	268	2e-6	BLAST
IPPc	288	630	3.72e-128	SMART

Coding Region Coverage

1x: 98.8%
3x: 97.7%
10x: 94.2%
20x: 85.7%

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: 60 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2610507B11Rik	T	A	11: 78,262,798	S56R	probably damaging	Het
Actr8	A	G	14: 29,984,099	M99V	possibly damaging	Het
Adamtsl2	T	A	2: 27,103,066	C703S	possibly damaging	Het
Afap1	G	T	5: 35,968,661	K333N	probably damaging	Het
Aldh3a2	G	A	11: 61,264,307	S137L	probably damaging	Het
Alkbh2	C	T	5: 114,124,226	E148K	probably damaging	Het
Aoc1	A	T	6: 48,905,445	K107M	possibly damaging	Het
Bmp8a	G	T	4: 123,316,965	S252R	possibly damaging	Het
C7	T	C	15: 5,059,419	I13M	probably benign	Het
Cblb	T	A	16: 52,139,611	D322E	possibly damaging	Het
Cfap54	G	A	10: 92,932,721	T180I	probably damaging	Het
Clrn2	C	T	5: 45,460,111	A108V	probably damaging	Het
Cspg4	T	A	9: 56,886,512	D510E	probably damaging	Het
Cyp2c40	A	T	19: 39,777,971	N393K	possibly damaging	Het
Dcaf5	T	C	12: 80,364,069	Y294C	probably damaging	Het
Dclk3	T	A	9: 111,469,020	M544K	probably benign	Het
Doxl2	A	T	6: 48,975,915	Y258F	probably damaging	Het
Ell3	A	T	2: 121,439,465	F388I	probably damaging	Het
Fam208b	T	C	13: 3,575,543	K1469R	probably benign	Het
Fam78b	A	G	1: 167,078,760	I163V	probably damaging	Het
Gnptab	T	C	10: 88,434,081	L882P	probably damaging	Het
Herc2	A	T	7: 56,204,733	D3802V	possibly damaging	Het
Hs3st5	A	G	10: 36,833,414	E315G	probably benign	Het
Idh3b	A	T	2: 130,284,054		probably null	Het
Lama4	G	A	10: 39,073,643	E911K	probably damaging	Het
Macf1	A	G	4: 123,511,007	I436T	probably damaging	Het
Mgam	C	A	6: 40,759,780	S871*	probably null	Het
Mtmr7	A	G	8: 40,560,882	S212P	probably damaging	Het
Mylk2	A	G	2: 152,919,416	T480A	probably damaging	Het
Myo3a	A	T	2: 22,282,626	N191I	probably damaging	Het
Nanog	C	T	6: 122,711,775	S105F	probably damaging	Het
Nanos2	A	G	7: 18,987,639	Y12C	probably damaging	Het
Nsg1	C	T	5: 38,155,643	V71I	probably benign	Het
Olfr1368	C	T	13: 21,142,167	V297I	probably benign	Het
Olfr1458	G	T	19: 13,103,204	Y33*	probably null	Het
Olfr1512	A	T	14: 52,372,951	I34N	probably damaging	Het
Olfr211	T	C	6: 116,494,425	L272S	probably benign	Het
Olfr643	A	T	7: 104,058,723	I293N	probably damaging	Het
Pcdhb17	A	G	18: 37,486,648	Q497R	probably benign	Het
Pcsk7	C	A	9: 45,925,986	P536Q	probably damaging	Het
Phactr4	G	A	4: 132,377,248	T256I	probably benign	Het
Phyhip	A	G	14: 70,467,291	K317E	probably damaging	Het
Pkhd1	C	T	1: 20,534,558	G1178R	probably damaging	Het
Ppp1r9a	G	A	6: 5,057,557	G544D	probably damaging	Het
Ptpn3	T	C	4: 57,225,775	D480G	probably benign	Het
Ptprn2	A	T	12: 117,253,615	K918N	probably damaging	Het
Rab42	T	C	4: 132,302,347	D188G	probably benign	Het
Rasgrf2	C	A	13: 91,983,676	D20Y	probably damaging	Het
Ryr2	G	A	13: 11,779,266	T942I	probably benign	Het
Sbpl	T	C	17: 23,953,354	K197R	unknown	Het
Slc44a1	T	A	4: 53,561,069	V595E	probably damaging	Het
Slc6a19	A	G	13: 73,684,344	M410T	probably damaging	Het
Sntb1	A	T	15: 55,647,955	L411H	probably damaging	Het
Tmem131	G	A	1: 36,825,478	T558I	probably damaging	Het
Tnrc18	A	T	5: 142,771,533	S1078T	unknown	Het
Trmu	T	A	15: 85,897,101		probably null	Het
Ttn	A	T	2: 76,891,086		probably benign	Het
Tyw3	T	C	3: 154,587,523	T172A	probably benign	Het
Vldlr	T	C	19: 27,239,721	I348T	possibly damaging	Het
Zfp114	A	G	7: 24,177,769	D12G	probably damaging	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
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
R6084:Synj2	UTSW	17	6038098	missense	probably damaging	1.00
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'- CGAGGGAGAAAGGTTTTGCTCAAGC -3'
(R):5'- AAATGTGGTACACAGCCAGGGCAC -3'

Sequencing Primer
(F):5'- TGTCTCCAAAGGCAGGTTTACAG -3'
(R):5'- CCTCTGTTTCAGCAACACATGTAG -3'

Posted On

2014-03-14