Mutagenetix > Incidental Mutation

Incidental Mutation 'R0698:Synj1'

62931

Institutional Source

Beutler Lab

Gene Symbol

Synj1

Ensembl Gene

ENSMUSG00000022973

Gene Name

synaptojanin 1

Synonyms

A930006D20Rik

MMRRC Submission

038882-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R0698 (G1)

Quality Score

105

Status

Not validated

Chromosome

Chromosomal Location

90732980-90808196 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 90757503 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Alanine at position 882 (T882A)

Ref Sequence

ENSEMBL: ENSMUSP00000113308 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000121759] [ENSMUST00000130813] [ENSMUST00000170853] [ENSMUST00000231472]

AlphaFold

no structure available at present

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000118246

Predicted Effect

unknown
Transcript: ENSMUST00000118390
AA Change: T856A

SMART Domains

Protein: ENSMUSP00000113518
Gene: ENSMUSG00000022973
AA Change: T856A

Domain	Start	End	E-Value	Type
low complexity region	1	15	N/A	INTRINSIC
Pfam:Syja_N	75	356	3.1e-71	PFAM
IPPc	546	889	6.37e-177	SMART
DUF1866	882	1024	1.24e-80	SMART
low complexity region	1040	1069	N/A	INTRINSIC
low complexity region	1117	1151	N/A	INTRINSIC
low complexity region	1155	1166	N/A	INTRINSIC
low complexity region	1189	1208	N/A	INTRINSIC
low complexity region	1289	1322	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000121759
AA Change: T882A

PolyPhen 2 Score 0.440 (Sensitivity: 0.89; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000113308
Gene: ENSMUSG00000022973
AA Change: T882A

Domain	Start	End	E-Value	Type
low complexity region	9	40	N/A	INTRINSIC
Pfam:Syja_N	100	381	4.2e-71	PFAM
IPPc	571	914	6.37e-177	SMART
DUF1866	907	1049	1.24e-80	SMART
low complexity region	1065	1094	N/A	INTRINSIC
low complexity region	1142	1176	N/A	INTRINSIC
low complexity region	1180	1191	N/A	INTRINSIC
low complexity region	1214	1233	N/A	INTRINSIC
low complexity region	1314	1343	N/A	INTRINSIC
Blast:IPPc	1344	1428	1e-17	BLAST
low complexity region	1564	1596	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000130813

SMART Domains

Protein: ENSMUSP00000119712
Gene: ENSMUSG00000022973

Domain	Start	End	E-Value	Type
Pfam:Syja_N	59	346	1.4e-86	PFAM
low complexity region	441	459	N/A	INTRINSIC
IPPc	526	693	1.8e-9	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000170853
AA Change: T842A

PolyPhen 2 Score 0.012 (Sensitivity: 0.96; Specificity: 0.78)

SMART Domains

Protein: ENSMUSP00000128997
Gene: ENSMUSG00000022973
AA Change: T842A

Domain	Start	End	E-Value	Type
Pfam:Syja_N	59	346	1.7e-85	PFAM
IPPc	531	874	6.37e-177	SMART
DUF1866	867	1009	1.24e-80	SMART
low complexity region	1025	1054	N/A	INTRINSIC
low complexity region	1102	1136	N/A	INTRINSIC
low complexity region	1140	1151	N/A	INTRINSIC
low complexity region	1174	1193	N/A	INTRINSIC
low complexity region	1274	1307	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000231472

Coding Region Coverage

1x: 99.3%
3x: 98.8%
10x: 97.6%
20x: 95.8%

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a phosphoinositide phosphatase that regulates levels of membrane phosphatidylinositol-4,5-bisphosphate. As such, expression of this enzyme may affect synaptic transmission and membrane trafficking. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Sep 2011]
PHENOTYPE: Homozygotes for a targeted null mutation exhibit neurological defects associated with impaired phosphoinositide metabolism and accumulation of clathrin-coated vesicles at nerve endings. Mutants show impaired suckling and most die within 24 hours of birth. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 39 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adcy5	C	T	16: 35,110,452 (GRCm39)	T873M	possibly damaging	Het
Ap4e1	G	A	2: 126,905,283 (GRCm39)	E985K	probably benign	Het
Arhgap18	T	C	10: 26,788,625 (GRCm39)	I579T	probably damaging	Het
Arhgef11	G	T	3: 87,640,766 (GRCm39)	A1308S	probably benign	Het
Arhgef5	A	G	6: 43,250,275 (GRCm39)	E342G	probably damaging	Het
Atm	T	C	9: 53,426,539 (GRCm39)	E573G	probably damaging	Het
Baz1b	T	C	5: 135,227,075 (GRCm39)	V92A	probably damaging	Het
Cmya5	A	G	13: 93,232,065 (GRCm39)	S1008P	probably damaging	Het
Col6a1	A	G	10: 76,552,114 (GRCm39)	V459A	unknown	Het
Cpne4	T	C	9: 104,802,994 (GRCm39)	S213P	probably damaging	Het
Dock10	T	A	1: 80,507,895 (GRCm39)	Q1672L	probably damaging	Het
Grm8	C	T	6: 27,363,913 (GRCm39)	C534Y	probably damaging	Het
Ints7	A	G	1: 191,326,576 (GRCm39)	M183V	probably damaging	Het
Invs	T	G	4: 48,396,364 (GRCm39)	S346A	probably benign	Het
Krtap9-3	C	A	11: 99,488,663 (GRCm39)	C73F	probably damaging	Het
Lrrtm4	T	C	6: 79,999,911 (GRCm39)	L441P	probably damaging	Het
Map4	C	T	9: 109,897,856 (GRCm39)	R81*	probably null	Het
Med1	A	G	11: 98,046,515 (GRCm39)		probably benign	Het
Necab1	T	C	4: 15,005,041 (GRCm39)	N141S	probably benign	Het
Or1d2	A	T	11: 74,255,968 (GRCm39)	I158F	probably benign	Het
Pcdhb2	A	T	18: 37,430,419 (GRCm39)	E797D	probably benign	Het
Pclo	T	C	5: 14,762,530 (GRCm39)	Y3668H	unknown	Het
Peg10	T	A	6: 4,756,835 (GRCm39)		probably benign	Het
Psd2	A	G	18: 36,145,764 (GRCm39)	I723V	probably benign	Het
Ptprn2	C	T	12: 116,685,750 (GRCm39)	R70*	probably null	Het
R3hdm1	A	G	1: 128,109,476 (GRCm39)	Y309C	probably damaging	Het
Rab13	C	T	3: 90,132,043 (GRCm39)	T69M	probably damaging	Het
Rpl32	T	C	6: 115,782,551 (GRCm39)	N126S	probably benign	Het
Sis	C	A	3: 72,817,831 (GRCm39)	A1461S	probably damaging	Het
Slc2a13	T	C	15: 91,205,870 (GRCm39)	D439G	probably benign	Het
Spta1	T	C	1: 174,008,670 (GRCm39)	L258P	probably damaging	Het
Taar2	G	A	10: 23,817,393 (GRCm39)	R311H	probably benign	Het
Tada3	A	T	6: 113,343,968 (GRCm39)	L227Q	probably damaging	Het
Tet2	A	T	3: 133,173,145 (GRCm39)	S1706T	probably benign	Het
Ttc6	G	A	12: 57,720,002 (GRCm39)	V858I	probably benign	Het
Tut4	T	A	4: 108,412,730 (GRCm39)	M1477K	probably benign	Het
Vps13c	C	A	9: 67,797,005 (GRCm39)	A464E	probably benign	Het
Zbtb17	T	C	4: 141,193,407 (GRCm39)		probably null	Het
Zcwpw1	G	A	5: 137,815,783 (GRCm39)	E429K	probably benign	Het

Other mutations in Synj1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01143:Synj1	APN	16	90,748,864 (GRCm39)	missense	probably damaging	1.00
IGL01468:Synj1	APN	16	90,807,060 (GRCm39)	splice site	probably benign
IGL02209:Synj1	APN	16	90,784,307 (GRCm39)	missense	probably damaging	0.97
IGL02452:Synj1	APN	16	90,758,253 (GRCm39)	splice site	probably benign
IGL02619:Synj1	APN	16	90,770,933 (GRCm39)	missense	probably damaging	1.00
IGL02650:Synj1	APN	16	90,773,584 (GRCm39)	missense	probably benign	0.03
IGL02708:Synj1	APN	16	90,788,350 (GRCm39)	missense	probably damaging	1.00
IGL02863:Synj1	APN	16	90,758,322 (GRCm39)	missense	possibly damaging	0.94
IGL03131:Synj1	APN	16	90,785,056 (GRCm39)	missense	probably damaging	0.99
IGL03295:Synj1	APN	16	90,735,318 (GRCm39)	missense	probably benign	0.14
IGL03356:Synj1	APN	16	90,784,280 (GRCm39)	missense	probably damaging	1.00
PIT1430001:Synj1	UTSW	16	90,761,396 (GRCm39)	missense	probably damaging	1.00
R0179:Synj1	UTSW	16	90,761,519 (GRCm39)	missense	possibly damaging	0.80
R0396:Synj1	UTSW	16	90,735,528 (GRCm39)	missense	probably benign
R0426:Synj1	UTSW	16	90,764,242 (GRCm39)	missense	probably damaging	1.00
R0486:Synj1	UTSW	16	90,735,151 (GRCm39)	utr 3 prime	probably benign
R0515:Synj1	UTSW	16	90,790,910 (GRCm39)	missense	possibly damaging	0.93
R0535:Synj1	UTSW	16	90,744,975 (GRCm39)	missense	possibly damaging	0.80
R0697:Synj1	UTSW	16	90,757,503 (GRCm39)	missense	probably benign	0.44
R0945:Synj1	UTSW	16	90,757,333 (GRCm39)	missense	possibly damaging	0.90
R1327:Synj1	UTSW	16	90,743,743 (GRCm39)	missense	probably benign	0.05
R1562:Synj1	UTSW	16	90,784,290 (GRCm39)	missense	probably benign	0.09
R1732:Synj1	UTSW	16	90,761,118 (GRCm39)	missense	probably damaging	0.99
R1752:Synj1	UTSW	16	90,735,361 (GRCm39)	missense	probably benign
R1785:Synj1	UTSW	16	90,761,405 (GRCm39)	missense	probably damaging	1.00
R1786:Synj1	UTSW	16	90,761,405 (GRCm39)	missense	probably damaging	1.00
R2011:Synj1	UTSW	16	90,735,584 (GRCm39)	missense	probably damaging	1.00
R2012:Synj1	UTSW	16	90,735,584 (GRCm39)	missense	probably damaging	1.00
R2065:Synj1	UTSW	16	90,788,537 (GRCm39)	critical splice acceptor site	probably null
R2862:Synj1	UTSW	16	90,766,217 (GRCm39)	missense	probably damaging	1.00
R3026:Synj1	UTSW	16	90,775,622 (GRCm39)	missense	probably damaging	1.00
R3151:Synj1	UTSW	16	90,757,514 (GRCm39)	missense	probably damaging	0.96
R3946:Synj1	UTSW	16	90,806,984 (GRCm39)	missense	possibly damaging	0.48
R3971:Synj1	UTSW	16	90,788,491 (GRCm39)	missense	probably damaging	1.00
R4472:Synj1	UTSW	16	90,766,069 (GRCm39)	critical splice donor site	probably null
R4547:Synj1	UTSW	16	90,785,170 (GRCm39)	missense	possibly damaging	0.51
R4647:Synj1	UTSW	16	90,770,877 (GRCm39)	missense	probably damaging	1.00
R4739:Synj1	UTSW	16	90,752,307 (GRCm39)	missense	probably benign	0.00
R5027:Synj1	UTSW	16	90,737,407 (GRCm39)	splice site	probably null
R5428:Synj1	UTSW	16	90,788,406 (GRCm39)	missense	probably damaging	0.98
R5586:Synj1	UTSW	16	90,806,865 (GRCm39)	intron	probably benign
R5769:Synj1	UTSW	16	90,735,141 (GRCm39)	utr 3 prime	probably benign
R6005:Synj1	UTSW	16	90,766,174 (GRCm39)	missense	probably damaging	1.00
R6119:Synj1	UTSW	16	90,735,877 (GRCm39)	missense	probably benign	0.30
R6313:Synj1	UTSW	16	90,743,703 (GRCm39)	missense	probably benign	0.00
R6324:Synj1	UTSW	16	90,735,518 (GRCm39)	missense	probably benign	0.00
R6549:Synj1	UTSW	16	90,735,565 (GRCm39)	missense	probably benign
R6696:Synj1	UTSW	16	90,757,340 (GRCm39)	missense	probably damaging	0.98
R6698:Synj1	UTSW	16	90,757,340 (GRCm39)	missense	probably damaging	0.98
R6861:Synj1	UTSW	16	90,760,768 (GRCm39)	nonsense	probably null
R7008:Synj1	UTSW	16	90,790,833 (GRCm39)	missense	probably damaging	1.00
R7153:Synj1	UTSW	16	90,744,978 (GRCm39)	missense	probably benign	0.04
R7393:Synj1	UTSW	16	90,748,887 (GRCm39)	missense	probably damaging	0.99
R7510:Synj1	UTSW	16	90,735,565 (GRCm39)	missense	probably benign
R7560:Synj1	UTSW	16	90,737,371 (GRCm39)	missense	probably benign
R7724:Synj1	UTSW	16	90,758,387 (GRCm39)	missense	probably damaging	0.99
R7913:Synj1	UTSW	16	90,788,315 (GRCm39)	missense	possibly damaging	0.83
R8326:Synj1	UTSW	16	90,785,084 (GRCm39)	missense	probably benign	0.12
R8707:Synj1	UTSW	16	90,752,319 (GRCm39)	missense	probably benign	0.02
R8711:Synj1	UTSW	16	90,806,971 (GRCm39)	missense	probably damaging	0.98
R8767:Synj1	UTSW	16	90,758,406 (GRCm39)	missense	probably damaging	1.00
R8911:Synj1	UTSW	16	90,775,622 (GRCm39)	missense	probably damaging	1.00
R9052:Synj1	UTSW	16	90,735,728 (GRCm39)	missense	probably benign	0.00
R9124:Synj1	UTSW	16	90,735,513 (GRCm39)	missense	probably benign	0.00
R9307:Synj1	UTSW	16	90,785,095 (GRCm39)	missense	probably damaging	0.98
R9408:Synj1	UTSW	16	90,741,740 (GRCm39)	missense	probably benign	0.27
R9458:Synj1	UTSW	16	90,766,200 (GRCm39)	missense	probably benign	0.05
R9567:Synj1	UTSW	16	90,790,912 (GRCm39)	missense	possibly damaging	0.79
R9651:Synj1	UTSW	16	90,757,343 (GRCm39)	missense	possibly damaging	0.56
R9651:Synj1	UTSW	16	90,735,412 (GRCm39)	missense	probably benign	0.00
R9707:Synj1	UTSW	16	90,758,300 (GRCm39)	missense	possibly damaging	0.91
R9730:Synj1	UTSW	16	90,757,552 (GRCm39)	missense	probably damaging	0.98
R9732:Synj1	UTSW	16	90,761,414 (GRCm39)	missense	probably damaging	1.00
Z1176:Synj1	UTSW	16	90,784,228 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- TGATTGAGACCAGCACTGTGCC -3'
(R):5'- CAGACTGCTGAAGGTTCCAGAAGG -3'

Sequencing Primer
(F):5'- ACCAGCACTGTGCCATCTG -3'
(R):5'- CTGAAGGTTCCAGAAGGAAGTAG -3'

Posted On

2013-07-30