Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02222:Synj2'

285173

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 #

IGL02222

Quality Score

Status

Chromosome

Chromosomal Location

5991555-6094565 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 6087755 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Alanine at position 1269 (T1269A)

Ref Sequence

ENSEMBL: ENSMUSP00000111457 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000061091] [ENSMUST00000080283] [ENSMUST00000097432] [ENSMUST00000115784] [ENSMUST00000115785] [ENSMUST00000115787] [ENSMUST00000115788] [ENSMUST00000115791] [ENSMUST00000115790] [ENSMUST00000115789] [ENSMUST00000154114] [ENSMUST00000134767] [ENSMUST00000126881]

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 benign
Transcript: ENSMUST00000080283
AA Change: T1224A

PolyPhen 2 Score 0.013 (Sensitivity: 0.96; Specificity: 0.78)

SMART Domains

Protein: ENSMUSP00000079164
Gene: ENSMUSG00000023805
AA Change: T1224A

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

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

probably benign
Transcript: ENSMUST00000115785
AA Change: T908A

PolyPhen 2 Score 0.015 (Sensitivity: 0.96; Specificity: 0.79)

SMART Domains

Protein: ENSMUSP00000111451
Gene: ENSMUSG00000023805
AA Change: T908A

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

probably benign
Transcript: ENSMUST00000115791
AA Change: T1269A

PolyPhen 2 Score 0.037 (Sensitivity: 0.94; Specificity: 0.82)

SMART Domains

Protein: ENSMUSP00000111457
Gene: ENSMUSG00000023805
AA Change: T1269A

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: ENSMUST00000115790
AA Change: T1184A

PolyPhen 2 Score 0.037 (Sensitivity: 0.94; Specificity: 0.82)

SMART Domains

Protein: ENSMUSP00000111456
Gene: ENSMUSG00000023805
AA Change: T1184A

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

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: 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

Predicted Effect

probably benign
Transcript: ENSMUST00000134767

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

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: 31 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca12	T	A	1: 71,322,045 (GRCm39)	R1682W	probably benign	Het
Angptl6	A	T	9: 20,785,203 (GRCm39)	M450K	probably damaging	Het
Armc12	C	A	17: 28,757,694 (GRCm39)	N275K	probably damaging	Het
Cd27	T	C	6: 125,211,495 (GRCm39)	H144R	probably damaging	Het
Cenpf	T	C	1: 189,386,641 (GRCm39)	K1880E	probably benign	Het
Dchs1	A	T	7: 105,414,094 (GRCm39)	I907N	probably damaging	Het
Dpy19l4	A	C	4: 11,281,116 (GRCm39)	F443C	possibly damaging	Het
Eif3i	C	T	4: 129,485,881 (GRCm39)	D315N	possibly damaging	Het
Fam217a	A	G	13: 35,095,102 (GRCm39)	L128P	probably damaging	Het
Fetub	C	T	16: 22,751,078 (GRCm39)	L62F	probably damaging	Het
Fmn1	A	T	2: 113,423,454 (GRCm39)	I1047F	probably damaging	Het
G2e3	A	G	12: 51,410,016 (GRCm39)	H267R	probably damaging	Het
Gigyf2	A	G	1: 87,338,585 (GRCm39)		probably null	Het
Gm10650	T	C	3: 127,833,789 (GRCm39)		noncoding transcript	Het
Grip1	C	T	10: 119,835,714 (GRCm39)	T470I	probably damaging	Het
Hmcn1	T	G	1: 150,682,152 (GRCm39)	D466A	probably benign	Het
Lrrc63	T	C	14: 75,323,580 (GRCm39)	Y548C	probably damaging	Het
Naaa	T	C	5: 92,407,409 (GRCm39)		probably benign	Het
Parpbp	T	A	10: 87,975,947 (GRCm39)	E55D	possibly damaging	Het
Pnpt1	A	T	11: 29,109,327 (GRCm39)	D691V	possibly damaging	Het
Pnpt1	G	A	11: 29,080,842 (GRCm39)	A29T	probably benign	Het
Pramel11	A	G	4: 143,622,416 (GRCm39)	M313T	possibly damaging	Het
Psg25	T	C	7: 18,263,652 (GRCm39)	N57S	probably damaging	Het
Selenbp2	T	A	3: 94,607,269 (GRCm39)	V168E	probably damaging	Het
Syne2	G	A	12: 75,999,617 (GRCm39)	E2337K	probably damaging	Het
Tent5b	T	C	4: 133,213,864 (GRCm39)	V245A	probably damaging	Het
Tnfrsf13c	C	A	15: 82,107,364 (GRCm39)	V144L	probably damaging	Het
Uspl1	G	T	5: 149,130,854 (GRCm39)	V132L	probably benign	Het
Vmn2r58	T	A	7: 41,513,449 (GRCm39)	Y398F	possibly damaging	Het
Vps13a	T	A	19: 16,659,539 (GRCm39)	T1663S	probably benign	Het
Ythdc1	G	A	5: 86,975,902 (GRCm39)	R503H	possibly 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
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
IGL02681:Synj2	APN	17	6,040,611 (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