Mutagenetix > Incidental Mutation

Incidental Mutation 'R7286:Synj2'

566056

Institutional Source

Beutler Lab

Gene Symbol

Synj2

Ensembl Gene

ENSMUSG00000023805

Gene Name

synaptojanin 2

Synonyms

SJ2

MMRRC Submission

Accession Numbers

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

Essential gene?

Probably non essential (E-score: 0.123) question?

Stock #

R7286 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

5941280-6044290 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 6037945 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Serine to Proline at position 1424 (S1424P)

Ref Sequence

ENSEMBL: ENSMUSP00000111457 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000061091] [ENSMUST00000080283] [ENSMUST00000097432] [ENSMUST00000115785] [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

possibly damaging
Transcript: ENSMUST00000080283
AA Change: S1379P

PolyPhen 2 Score 0.937 (Sensitivity: 0.80; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000079164
Gene: ENSMUSG00000023805
AA Change: S1379P

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: S1063P

PolyPhen 2 Score 0.868 (Sensitivity: 0.83; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000111451
Gene: ENSMUSG00000023805
AA Change: S1063P

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

possibly damaging
Transcript: ENSMUST00000115790
AA Change: S1339P

PolyPhen 2 Score 0.787 (Sensitivity: 0.85; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000111456
Gene: ENSMUSG00000023805
AA Change: S1339P

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

possibly damaging
Transcript: ENSMUST00000115791
AA Change: S1424P

PolyPhen 2 Score 0.787 (Sensitivity: 0.85; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000111457
Gene: ENSMUSG00000023805
AA Change: S1424P

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: 100.0%
3x: 99.9%
10x: 99.6%
20x: 98.6%

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: 93 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
0610010F05Rik	A	T	11: 23,622,479	C130S	probably benign	Het
4921501E09Rik	T	C	17: 33,065,527	D767G	probably benign	Het
4930550C14Rik	A	T	9: 53,423,017	M187L	possibly damaging	Het
9930012K11Rik	T	C	14: 70,157,237	E156G	possibly damaging	Het
Acad9	C	T	3: 36,075,990	A194V	probably damaging	Het
Agps	T	A	2: 75,852,784	V151E	probably benign	Het
Ak9	A	T	10: 41,407,371	I1273L		Het
Akr1c19	T	A	13: 4,246,819	L288Q	probably damaging	Het
Carmil1	T	G	13: 24,013,394	D1353A	probably damaging	Het
Ccz1	T	A	5: 144,013,079	I43F	probably damaging	Het
Cep70	G	A	9: 99,275,585	C179Y	probably damaging	Het
Comt	A	T	16: 18,410,690	L196H	probably damaging	Het
Cspg5	A	T	9: 110,246,955	D253V	probably damaging	Het
Dars2	A	G	1: 161,046,808	V437A	possibly damaging	Het
Dcaf5	A	G	12: 80,348,390	I335T	probably damaging	Het
Ddn	T	C	15: 98,806,025	K462R	possibly damaging	Het
Dscaml1	T	C	9: 45,742,746		probably null	Het
Ethe1	A	G	7: 24,607,952	Y197C	probably damaging	Het
Evc	A	T	5: 37,322,183	L269*	probably null	Het
Fam161a	T	C	11: 23,020,001	S60P	possibly damaging	Het
Fam20b	A	G	1: 156,681,442	V400A	probably benign	Het
Fam53b	T	A	7: 132,759,661	S213C	possibly damaging	Het
Flot2	A	G	11: 78,054,786	I45V	probably benign	Het
Gemin4	A	C	11: 76,212,753	L394R	probably damaging	Het
Glis2	T	G	16: 4,611,318	S128R	possibly damaging	Het
Gm3696	A	G	14: 7,089,808	Y92H	probably damaging	Het
Gm49333	T	C	16: 20,632,591	S325P	probably benign	Het
Gpbp1l1	T	C	4: 116,590,245	V374A	probably benign	Het
Grm1	T	C	10: 10,689,696	N956S	probably benign	Het
Hbb-bh1	T	C	7: 103,843,031	E27G	probably damaging	Het
Hmcn1	A	T	1: 150,582,337	C5233S	probably damaging	Het
Hmgcr	C	T	13: 96,666,597	C30Y	probably damaging	Het
Hoxb6	A	G	11: 96,292,825		probably benign	Het
Igf2	T	C	7: 142,655,818	Q35R	possibly damaging	Het
Ighv1-4	C	T	12: 114,487,321	V56I	probably benign	Het
Kif13a	C	T	13: 46,752,455	V671M	possibly damaging	Het
Lmtk2	C	T	5: 144,174,360	Q633*	probably null	Het
Mesd	T	C	7: 83,895,749	Y136H	probably damaging	Het
Mga	T	A	2: 119,964,788	S2984R	possibly damaging	Het
Mkrn3	T	C	7: 62,418,927	N372S	probably benign	Het
Mtpap	A	G	18: 4,387,068	I373V	probably benign	Het
Mycbp2	G	A	14: 103,120,591	T4589M	probably damaging	Het
Myh2	A	G	11: 67,188,369	Q921R	probably benign	Het
Myom1	A	G	17: 71,045,549	D324G	possibly damaging	Het
Nat10	T	C	2: 103,754,169	K88E	probably benign	Het
Ncapd3	A	G	9: 27,069,958	R915G	probably damaging	Het
Nek4	T	C	14: 30,957,292	Y190H	probably damaging	Het
Nfasc	A	C	1: 132,602,052	Y797D	probably damaging	Het
Ngp	A	G	9: 110,420,910	D92G	probably benign	Het
Nos2	A	C	11: 78,929,854	H95P	probably damaging	Het
Nr3c1	ACGTC	ACGTCGTC	18: 39,486,460		probably benign	Het
Olfr1129	C	T	2: 87,575,519	T145I	probably benign	Het
Olfr1350	C	A	7: 6,570,716	H242N	probably damaging	Het
Olfr141	A	T	2: 86,806,623	H125Q	possibly damaging	Het
Olfr498	T	C	7: 108,465,435	I37T	possibly damaging	Het
Otogl	T	A	10: 107,770,610	D2154V	probably benign	Het
Pdss1	T	A	2: 22,935,641		probably null	Het
Pex5	A	T	6: 124,398,063	L609*	probably null	Het
Pglyrp4	C	A	3: 90,732,974	A177D	probably damaging	Het
Phactr4	A	G	4: 132,377,178		probably null	Het
Pik3cd	G	C	4: 149,659,714	N193K	probably benign	Het
Prr36	TACCTCTTC	T	8: 4,215,163		probably benign	Het
Prss38	A	T	11: 59,375,558	W25R	probably benign	Het
Prss8	T	A	7: 127,926,884	Q189L	probably damaging	Het
Psd	T	A	19: 46,314,801	D713V	probably damaging	Het
Rad51ap2	C	T	12: 11,457,691	T538I	probably benign	Het
Rarres1	T	C	3: 67,515,184	T78A	probably benign	Het
Rbl2	G	T	8: 91,102,294	G651*	probably null	Het
Rev3l	A	T	10: 39,823,605	Q1366L	probably damaging	Het
Rundc1	T	C	11: 101,429,587	S215P	probably benign	Het
Scarf2	G	A	16: 17,802,973	W168*	probably null	Het
Sh2d7	A	G	9: 54,540,902	D69G	possibly damaging	Het
Slc26a4	A	T	12: 31,529,528	Y578*	probably null	Het
Slc2a9	A	T	5: 38,453,195	L87Q	probably damaging	Het
Slc39a10	A	T	1: 46,810,070	H795Q	probably damaging	Het
Spata13	C	T	14: 60,756,422	R1108W	probably damaging	Het
Sqle	T	C	15: 59,316,052	S70P	probably benign	Het
Syncrip	A	T	9: 88,464,663	F263I	probably damaging	Het
Tax1bp3	A	T	11: 73,181,115	T89S	possibly damaging	Het
Tcaim	G	A	9: 122,819,027		probably null	Het
Tcp10c	T	C	17: 13,362,176	I240T	possibly damaging	Het
Ttll8	G	T	15: 88,917,239	N415K	probably benign	Het
Ugcg	T	C	4: 59,217,111	S212P	possibly damaging	Het
Vmn2r32	T	C	7: 7,479,808	K56E	probably benign	Het
Vmn2r55	T	C	7: 12,652,073	E660G	probably damaging	Het
Vmn2r7	T	C	3: 64,690,880	N752S	probably benign	Het
Vps54	T	A	11: 21,275,005	M167K	probably benign	Het
Vwa2	A	C	19: 56,909,359	M699L	probably benign	Het
Wdr59	A	G	8: 111,465,862	V689A		Het
Whamm	T	G	7: 81,586,247	N399K	probably damaging	Het
Zcchc6	T	C	13: 59,821,649	E144G	probably benign	Het
Zfp760	A	G	17: 21,722,779	K312E	probably benign	Het
Zkscan3	C	A	13: 21,394,813	V171L	probably benign	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
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
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'- GTTCTCCACCCTCACTGAAG -3'
(R):5'- AGGCAACAGGTCACCTTCATG -3'

Sequencing Primer
(F):5'- CCCTCACTGAAGCCCGAC -3'
(R):5'- GCCTGTGGGTCAAACACCTAATG -3'

Posted On

2019-06-26