Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02681:Synj2'

303371

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Synj2

Ensembl Gene

ENSMUSG00000023805

Gene Name

synaptojanin 2

Synonyms

SJ2

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.120) question?

Stock #

IGL02681

Quality Score

Status

Chromosome

Chromosomal Location

5991555-6094565 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 6040611 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Glutamic Acid at position 144 (V144E)

Ref Sequence

ENSEMBL: ENSMUSP00000111456 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000061091] [ENSMUST00000080283] [ENSMUST00000115788] [ENSMUST00000115789] [ENSMUST00000115790] [ENSMUST00000115791] [ENSMUST00000134767] [ENSMUST00000146009] [ENSMUST00000142409]

AlphaFold

Q9D2G5

Predicted Effect

probably damaging
Transcript: ENSMUST00000061091
AA Change: V144E

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

SMART Domains

Protein: ENSMUSP00000060382
Gene: ENSMUSG00000023805
AA Change: V144E

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: V229E

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

SMART Domains

Protein: ENSMUSP00000079164
Gene: ENSMUSG00000023805
AA Change: V229E

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: 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 damaging
Transcript: ENSMUST00000115790
AA Change: V144E

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

SMART Domains

Protein: ENSMUSP00000111456
Gene: ENSMUSG00000023805
AA Change: V144E

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 damaging
Transcript: ENSMUST00000115791
AA Change: V229E

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

SMART Domains

Protein: ENSMUSP00000111457
Gene: ENSMUSG00000023805
AA Change: V229E

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: ENSMUST00000134767

Predicted Effect

probably damaging
Transcript: ENSMUST00000146009
AA Change: V229E

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

SMART Domains

Protein: ENSMUSP00000122381
Gene: ENSMUSG00000023805
AA Change: V229E

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

SMART Domains

Protein: ENSMUSP00000120006
Gene: ENSMUSG00000023805

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

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: 26 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Bcar3	C	T	3: 122,306,417 (GRCm39)		probably null	Het
Cyp3a59	T	C	5: 146,027,556 (GRCm39)		probably benign	Het
Dnah2	G	A	11: 69,343,759 (GRCm39)	T2844M	probably benign	Het
Ehbp1l1	T	C	19: 5,770,853 (GRCm39)	I241M	probably damaging	Het
Fancl	G	A	11: 26,418,722 (GRCm39)		probably null	Het
Filip1l	A	G	16: 57,392,142 (GRCm39)	Q910R	probably benign	Het
Fn1	A	T	1: 71,658,641 (GRCm39)	V1139E	probably damaging	Het
Gm4787	A	G	12: 81,425,543 (GRCm39)	V205A	possibly damaging	Het
Gpr158	T	A	2: 21,820,441 (GRCm39)	L646Q	probably damaging	Het
Ifna1	A	G	4: 88,768,523 (GRCm39)	D67G	probably benign	Het
Il11ra1	T	A	4: 41,768,552 (GRCm39)	M412K	possibly damaging	Het
Klra10	T	A	6: 130,256,382 (GRCm39)	M91L	probably damaging	Het
Krba1	T	A	6: 48,381,052 (GRCm39)	D129E	probably damaging	Het
Mat1a	T	C	14: 40,844,453 (GRCm39)		probably benign	Het
Med24	T	A	11: 98,600,565 (GRCm39)	K627*	probably null	Het
Mpl	A	T	4: 118,306,068 (GRCm39)		probably benign	Het
Mynn	T	A	3: 30,670,791 (GRCm39)	D554E	probably benign	Het
Niban2	A	G	2: 32,801,402 (GRCm39)	Y122C	probably benign	Het
Or1e23	T	C	11: 73,407,356 (GRCm39)	Y223C	probably benign	Het
Prkcd	T	C	14: 30,323,190 (GRCm39)		probably null	Het
Prrc2c	T	C	1: 162,533,181 (GRCm39)		probably benign	Het
Scp2d1	T	C	2: 144,665,804 (GRCm39)	F48L	probably benign	Het
Slc12a2	A	G	18: 58,012,471 (GRCm39)	H198R	probably benign	Het
Sulf2	A	G	2: 165,958,905 (GRCm39)	V101A	probably benign	Het
Tas2r113	T	G	6: 132,870,330 (GRCm39)	F119L	probably damaging	Het
Tspan17	A	G	13: 54,937,442 (GRCm39)	E12G	probably damaging	Het

Other mutations in Synj2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01067:Synj2	APN	17	6,088,201 (GRCm39)	missense	possibly damaging	0.48
IGL01399:Synj2	APN	17	6,060,046 (GRCm39)	missense	probably damaging	1.00
IGL01793:Synj2	APN	17	6,088,321 (GRCm39)	missense	probably benign	0.01
IGL01793:Synj2	APN	17	6,077,500 (GRCm39)	nonsense	probably null
IGL02096:Synj2	APN	17	6,040,628 (GRCm39)	missense	probably damaging	1.00
IGL02115:Synj2	APN	17	6,067,865 (GRCm39)	missense	probably damaging	1.00
IGL02222:Synj2	APN	17	6,087,755 (GRCm39)	missense	probably benign	0.04
IGL02478:Synj2	APN	17	6,088,199 (GRCm39)	missense	probably benign	0.00
IGL02634:Synj2	APN	17	6,080,035 (GRCm39)	missense	probably damaging	1.00
IGL02652:Synj2	APN	17	6,067,868 (GRCm39)	missense	probably damaging	1.00
IGL02719:Synj2	APN	17	6,047,192 (GRCm39)	missense	probably benign	0.02
IGL03253:Synj2	APN	17	6,053,434 (GRCm39)	splice site	probably null
IGL03365:Synj2	APN	17	6,069,679 (GRCm39)	missense	probably damaging	1.00
I2288:Synj2	UTSW	17	6,072,542 (GRCm39)	splice site	probably benign
I2289:Synj2	UTSW	17	6,072,542 (GRCm39)	splice site	probably benign
R0389:Synj2	UTSW	17	6,080,058 (GRCm39)	missense	probably benign	0.35
R0433:Synj2	UTSW	17	6,084,123 (GRCm39)	missense	probably damaging	1.00
R0530:Synj2	UTSW	17	6,058,380 (GRCm39)	missense	possibly damaging	0.88
R0539:Synj2	UTSW	17	6,047,163 (GRCm39)	start codon destroyed	probably null	0.63
R0556:Synj2	UTSW	17	6,088,230 (GRCm39)	nonsense	probably null
R1263:Synj2	UTSW	17	6,069,634 (GRCm39)	missense	probably damaging	0.99
R1443:Synj2	UTSW	17	6,073,940 (GRCm39)	missense	probably damaging	0.99
R1450:Synj2	UTSW	17	6,077,599 (GRCm39)	splice site	probably benign
R1532:Synj2	UTSW	17	6,084,194 (GRCm39)	missense	probably benign	0.00
R1542:Synj2	UTSW	17	6,075,292 (GRCm39)	missense	probably benign	0.01
R1809:Synj2	UTSW	17	6,076,826 (GRCm39)	missense	possibly damaging	0.95
R1875:Synj2	UTSW	17	6,078,825 (GRCm39)	missense	possibly damaging	0.69
R1897:Synj2	UTSW	17	6,072,412 (GRCm39)	nonsense	probably null
R1928:Synj2	UTSW	17	6,040,542 (GRCm39)	missense	probably damaging	0.99
R2008:Synj2	UTSW	17	6,047,221 (GRCm39)	missense	probably damaging	1.00
R2060:Synj2	UTSW	17	6,087,755 (GRCm39)	missense	probably benign	0.04
R2109:Synj2	UTSW	17	6,063,966 (GRCm39)	missense	probably benign	0.00
R2332:Synj2	UTSW	17	6,074,069 (GRCm39)	missense	probably damaging	0.99
R2413:Synj2	UTSW	17	6,078,849 (GRCm39)	missense	probably damaging	1.00
R3684:Synj2	UTSW	17	6,078,718 (GRCm39)	missense	probably damaging	0.97
R4111:Synj2	UTSW	17	6,058,240 (GRCm39)	missense	probably benign	0.02
R4113:Synj2	UTSW	17	6,058,240 (GRCm39)	missense	probably benign	0.02
R4654:Synj2	UTSW	17	6,063,813 (GRCm39)	missense	probably damaging	1.00
R4797:Synj2	UTSW	17	6,084,163 (GRCm39)	missense	probably damaging	1.00
R4812:Synj2	UTSW	17	6,060,939 (GRCm39)	missense	probably damaging	1.00
R4873:Synj2	UTSW	17	6,038,343 (GRCm39)	intron	probably benign
R4875:Synj2	UTSW	17	6,038,343 (GRCm39)	intron	probably benign
R5110:Synj2	UTSW	17	6,087,990 (GRCm39)	missense	probably benign	0.06
R5205:Synj2	UTSW	17	5,991,793 (GRCm39)	missense	probably damaging	1.00
R5504:Synj2	UTSW	17	6,086,750 (GRCm39)	missense	possibly damaging	0.85
R5593:Synj2	UTSW	17	6,088,390 (GRCm39)	makesense	probably null
R5690:Synj2	UTSW	17	6,085,802 (GRCm39)	missense	probably benign	0.00
R5870:Synj2	UTSW	17	6,088,128 (GRCm39)	missense	probably benign	0.00
R6084:Synj2	UTSW	17	6,088,373 (GRCm39)	missense	probably damaging	1.00
R6084:Synj2	UTSW	17	6,067,889 (GRCm39)	missense	probably damaging	0.98
R6158:Synj2	UTSW	17	6,036,487 (GRCm39)	missense	probably benign	0.00
R6159:Synj2	UTSW	17	6,036,327 (GRCm39)	missense	probably damaging	1.00
R6160:Synj2	UTSW	17	6,058,336 (GRCm39)	missense	possibly damaging	0.92
R6278:Synj2	UTSW	17	6,026,149 (GRCm39)	missense	probably damaging	1.00
R6406:Synj2	UTSW	17	6,069,846 (GRCm39)	intron	probably benign
R6531:Synj2	UTSW	17	6,084,114 (GRCm39)	missense	probably damaging	1.00
R6729:Synj2	UTSW	17	6,036,289 (GRCm39)	start codon destroyed	probably null	1.00
R6774:Synj2	UTSW	17	6,088,290 (GRCm39)	missense	possibly damaging	0.87
R6792:Synj2	UTSW	17	6,040,565 (GRCm39)	missense	probably benign	0.01
R6844:Synj2	UTSW	17	6,026,081 (GRCm39)	missense	probably damaging	0.96
R6865:Synj2	UTSW	17	6,067,844 (GRCm39)	nonsense	probably null
R7178:Synj2	UTSW	17	6,076,754 (GRCm39)	missense	possibly damaging	0.95
R7286:Synj2	UTSW	17	6,088,220 (GRCm39)	missense	possibly damaging	0.79
R7403:Synj2	UTSW	17	6,088,005 (GRCm39)	missense	possibly damaging	0.76
R7451:Synj2	UTSW	17	6,080,066 (GRCm39)	missense	possibly damaging	0.68
R7501:Synj2	UTSW	17	6,040,514 (GRCm39)	missense	possibly damaging	0.79
R7730:Synj2	UTSW	17	6,066,562 (GRCm39)	missense	probably benign	0.33
R7799:Synj2	UTSW	17	6,088,098 (GRCm39)	missense	probably benign	0.10
R7804:Synj2	UTSW	17	6,069,809 (GRCm39)	missense	unknown
R7841:Synj2	UTSW	17	6,094,419 (GRCm39)	missense	unknown
R8347:Synj2	UTSW	17	6,060,060 (GRCm39)	missense	probably damaging	1.00
R8358:Synj2	UTSW	17	6,074,080 (GRCm39)	nonsense	probably null
R8391:Synj2	UTSW	17	5,991,796 (GRCm39)	missense	probably damaging	0.99
R8725:Synj2	UTSW	17	6,088,015 (GRCm39)	missense	possibly damaging	0.48
R8787:Synj2	UTSW	17	6,036,514 (GRCm39)	missense	possibly damaging	0.57
R8877:Synj2	UTSW	17	6,087,941 (GRCm39)	missense	probably damaging	1.00
R9091:Synj2	UTSW	17	6,067,875 (GRCm39)	missense	possibly damaging	0.88
R9121:Synj2	UTSW	17	6,040,599 (GRCm39)	missense	probably damaging	1.00
R9147:Synj2	UTSW	17	6,084,172 (GRCm39)	missense	probably damaging	1.00
R9148:Synj2	UTSW	17	6,084,172 (GRCm39)	missense	probably damaging	1.00
R9270:Synj2	UTSW	17	6,067,875 (GRCm39)	missense	possibly damaging	0.88
R9489:Synj2	UTSW	17	6,063,794 (GRCm39)	missense	probably benign	0.00
R9605:Synj2	UTSW	17	6,063,794 (GRCm39)	missense	probably benign	0.00
R9720:Synj2	UTSW	17	6,040,584 (GRCm39)	missense	probably benign
R9773:Synj2	UTSW	17	6,094,232 (GRCm39)	missense	probably benign	0.00

Posted On

2015-04-16