Mutagenetix > Incidental Mutations

Incidental Mutation 'IGL03115:Patj'

419385

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Patj

Ensembl Gene

ENSMUSG00000061859

Gene Name

PATJ, crumbs cell polarity complex component

Synonyms

Inadl, Cipp

Accession Numbers

Genbank: NM_172696; MGI: 1277960

Is this an essential gene?

Non essential (E-score: 0.000) question?

Stock #

IGL03115

Quality Score

Status

Chromosome

Chromosomal Location

98395785-98719603 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 98443803 bp

Zygosity

Heterozygous

Amino Acid Change

Serine to Leucine at position 562 (S562L)

Ref Sequence

ENSEMBL: ENSMUSP00000102648 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000041284] [ENSMUST00000107030] [ENSMUST00000107033] [ENSMUST00000107034]

Predicted Effect

probably damaging
Transcript: ENSMUST00000041284
AA Change: S562L

PolyPhen 2 Score 0.986 (Sensitivity: 0.74; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000049176
Gene: ENSMUSG00000061859
AA Change: S562L

Domain	Start	End	E-Value	Type
L27	8	68	6.53e-9	SMART
PDZ	143	221	1.78e-20	SMART
PDZ	256	328	1.15e-23	SMART
PDZ	374	453	3.15e-21	SMART
coiled coil region	486	513	N/A	INTRINSIC
PDZ	570	641	1.28e-12	SMART
PDZ	696	775	9.5e-16	SMART
low complexity region	980	991	N/A	INTRINSIC
low complexity region	1054	1062	N/A	INTRINSIC
PDZ	1083	1166	8.65e-19	SMART
PDZ	1253	1328	6.12e-19	SMART
low complexity region	1356	1366	N/A	INTRINSIC
low complexity region	1410	1428	N/A	INTRINSIC
PDZ	1480	1555	4.36e-24	SMART
PDZ	1577	1650	2.49e-19	SMART
PDZ	1718	1795	2.13e-18	SMART

Predicted Effect

probably damaging
Transcript: ENSMUST00000107030
AA Change: S562L

PolyPhen 2 Score 0.986 (Sensitivity: 0.74; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000102645
Gene: ENSMUSG00000061859
AA Change: S562L

Domain	Start	End	E-Value	Type
L27	8	68	6.53e-9	SMART
PDZ	143	221	1.78e-20	SMART
PDZ	256	328	1.15e-23	SMART
PDZ	374	453	3.15e-21	SMART
coiled coil region	486	513	N/A	INTRINSIC

Predicted Effect

probably damaging
Transcript: ENSMUST00000107033
AA Change: S562L

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000102648
Gene: ENSMUSG00000061859
AA Change: S562L

Domain	Start	End	E-Value	Type
L27	8	68	6.53e-9	SMART
PDZ	143	221	1.78e-20	SMART
PDZ	256	328	1.15e-23	SMART
PDZ	374	453	3.15e-21	SMART
coiled coil region	486	513	N/A	INTRINSIC
low complexity region	648	659	N/A	INTRINSIC
low complexity region	722	730	N/A	INTRINSIC
PDZ	751	834	8.65e-19	SMART

Predicted Effect

probably damaging
Transcript: ENSMUST00000107034
AA Change: S558L

PolyPhen 2 Score 0.975 (Sensitivity: 0.76; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000102649
Gene: ENSMUSG00000061859
AA Change: S558L

Domain	Start	End	E-Value	Type
L27	8	68	6.53e-9	SMART
PDZ	143	221	1.78e-20	SMART
PDZ	256	328	1.15e-23	SMART
PDZ	374	453	3.15e-21	SMART
coiled coil region	486	513	N/A	INTRINSIC
PDZ	566	637	1.28e-12	SMART
PDZ	692	771	9.5e-16	SMART
low complexity region	976	987	N/A	INTRINSIC
low complexity region	1050	1058	N/A	INTRINSIC
PDZ	1079	1162	8.65e-19	SMART
PDZ	1249	1324	6.12e-19	SMART
low complexity region	1352	1362	N/A	INTRINSIC
low complexity region	1382	1400	N/A	INTRINSIC
PDZ	1452	1499	7.78e0	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000141965

Predicted Effect

unknown
Transcript: ENSMUST00000142103
AA Change: S40L

SMART Domains

Protein: ENSMUSP00000116021
Gene: ENSMUSG00000061859
AA Change: S40L

Domain	Start	End	E-Value	Type
PDZ	49	120	1.28e-12	SMART
PDZ	175	254	9.5e-16	SMART

Coding Region Coverage

Validation Efficiency

MGI Phenotype

FUNCTION: This gene encodes a multivalent PDZ domain protein, which is expressed exclusively in brain and kidney. This protein selectively interacts with inward rectifier K+ (Kir) family members, N-methyl-D-aspartate receptor subunits, neurexins and neuroligins, as well as cell surface molecules enriched in synaptic membranes. Thus, this protein may serve as a scaffold that brings structurally diverse but functionally connected proteins into close proximity at the synapse. Multiple alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]

Allele List at MGI

All alleles(5) : Gene trapped(5)

Other mutations in this stock

Total: 51 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adamdec1	T	A	14: 68,571,353	H302L	probably damaging	Het
Adamts12	T	A	15: 11,263,336	C595S	probably damaging	Het
Arid2	G	A	15: 96,370,273	V756I	probably damaging	Het
Asah1	A	T	8: 41,360,299	W26R	possibly damaging	Het
Brinp1	C	T	4: 68,904,736		probably null	Het
Cers2	A	G	3: 95,321,352	D162G	probably damaging	Het
Clasp1	G	T	1: 118,501,323	E106*	probably null	Het
Col12a1	T	C	9: 79,681,437	E1132G	probably damaging	Het
Dhdds	G	T	4: 133,982,871	H196N	probably benign	Het
Eps8	T	C	6: 137,527,381	D118G	probably damaging	Het
Fmo9	A	G	1: 166,677,651	S7P	probably damaging	Het
Gamt	A	G	10: 80,258,438	L197P	probably damaging	Het
Grb7	A	G	11: 98,451,119	I82V	probably damaging	Het
Hectd2	T	C	19: 36,599,721		probably null	Het
Ilk	T	C	7: 105,740,335	V83A	probably damaging	Het
Kif21a	T	A	15: 90,985,395	I418F	probably damaging	Het
Kndc1	A	G	7: 139,921,509	I905V	probably benign	Het
Lyl1	C	T	8: 84,702,671	P3L	possibly damaging	Het
Morc3	T	C	16: 93,871,083	I710T	probably damaging	Het
Nefm	T	C	14: 68,120,279		probably benign	Het
Olfr452	A	G	6: 42,790,665	T209A	probably benign	Het
Olfr937	C	A	9: 39,059,963	R234S	probably damaging	Het
Olfr975	T	C	9: 39,950,744	E9G	probably damaging	Het
Pard6g	T	G	18: 80,079,853	L34W	probably damaging	Het
Pcsk4	A	G	10: 80,329,049	I61T	probably damaging	Het
Pcsk7	T	A	9: 45,914,372	H300Q	probably damaging	Het
Pip5kl1	A	G	2: 32,580,021	D288G	probably damaging	Het
Plxnb2	T	A	15: 89,162,438		probably benign	Het
Poldip2	T	C	11: 78,521,144		probably benign	Het
Ralgapa2	T	C	2: 146,424,814	Y614C	probably damaging	Het
Rarres1	C	A	3: 67,495,812		probably null	Het
Samd3	C	T	10: 26,271,708	T427M	probably damaging	Het
Skap1	A	G	11: 96,702,620	I98V	probably benign	Het
Skint11	T	C	4: 114,244,623	S87P	probably damaging	Het
Slc22a22	T	G	15: 57,263,274	E133A	probably damaging	Het
Slc23a2	T	C	2: 132,091,265	Y91C	probably damaging	Het
Slc6a20b	T	A	9: 123,597,338	E494V	possibly damaging	Het
Slco1a4	A	C	6: 141,817,859	M377R	probably damaging	Het
Slco1a4	A	T	6: 141,819,603	D304E	probably benign	Het
Srpk2	T	C	5: 23,524,618		probably null	Het
Supt3	T	G	17: 45,041,227	C271W	probably damaging	Het
Taar7d	C	A	10: 24,027,641	F140L	probably benign	Het
Tmbim7	T	C	5: 3,679,158	*225Q	probably null	Het
Tpst1	T	C	5: 130,101,911	I74T	probably damaging	Het
Utp3	T	C	5: 88,555,320	V236A	possibly damaging	Het
Vmn2r55	A	T	7: 12,670,631	F282I	probably damaging	Het
Vwa5b1	A	T	4: 138,600,149	I372N	possibly damaging	Het
Wtip	C	T	7: 34,125,533	A209T	probably damaging	Het
Zbbx	T	C	3: 75,078,560	D395G	probably benign	Het
Zfp273	A	T	13: 67,825,650	H299L	probably damaging	Het
Zfp459	G	A	13: 67,408,677	R96*	probably null	Het

Other mutations in Patj

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00089:Patj	APN	4	98465106	missense	probably damaging	1.00
IGL00095:Patj	APN	4	98535562	missense	possibly damaging	0.78
IGL00517:Patj	APN	4	98441071	missense	possibly damaging	0.95
IGL00802:Patj	APN	4	98424406	missense	possibly damaging	0.93
IGL01064:Patj	APN	4	98496973	missense	possibly damaging	0.95
IGL01110:Patj	APN	4	98413024	missense	probably damaging	0.99
IGL01407:Patj	APN	4	98413050	missense	possibly damaging	0.49
IGL01821:Patj	APN	4	98456211	missense	probably damaging	1.00
IGL02399:Patj	APN	4	98591936	missense	probably damaging	1.00
IGL02494:Patj	APN	4	98703987	splice site	probably benign
IGL02803:Patj	APN	4	98426064	missense	probably damaging	0.99
IGL02931:Patj	APN	4	98411173	splice site	probably benign
IGL03017:Patj	APN	4	98465027	splice site	probably benign
IGL03209:Patj	APN	4	98465140	missense	probably null	1.00
IGL03377:Patj	APN	4	98465104	missense	probably damaging	1.00
D4186:Patj	UTSW	4	98638762	missense	probably benign	0.17
PIT4531001:Patj	UTSW	4	98441090	missense	probably damaging	0.98
R0136:Patj	UTSW	4	98667648	missense	probably damaging	1.00
R0294:Patj	UTSW	4	98497048	missense	probably damaging	0.99
R0376:Patj	UTSW	4	98568987	missense	probably damaging	1.00
R0463:Patj	UTSW	4	98674308	missense	probably damaging	1.00
R0465:Patj	UTSW	4	98535507	splice site	probably null
R0466:Patj	UTSW	4	98688156	missense	probably damaging	1.00
R0544:Patj	UTSW	4	98569110	missense	probably damaging	1.00
R0624:Patj	UTSW	4	98681235	splice site	probably benign
R0657:Patj	UTSW	4	98667648	missense	probably damaging	1.00
R1281:Patj	UTSW	4	98416695	missense	probably damaging	1.00
R1393:Patj	UTSW	4	98424411	missense	probably benign	0.01
R1480:Patj	UTSW	4	98469582	missense	probably damaging	1.00
R1667:Patj	UTSW	4	98413027	missense	probably damaging	1.00
R1728:Patj	UTSW	4	98431780	missense	possibly damaging	0.50
R1729:Patj	UTSW	4	98431780	missense	possibly damaging	0.50
R1797:Patj	UTSW	4	98687438	missense	probably damaging	1.00
R1818:Patj	UTSW	4	98623648	missense	possibly damaging	0.85
R1835:Patj	UTSW	4	98491590	missense	probably benign	0.00
R1880:Patj	UTSW	4	98497240	missense	probably benign	0.00
R2009:Patj	UTSW	4	98456169	missense	probably damaging	1.00
R2090:Patj	UTSW	4	98437323	unclassified	probably benign
R2120:Patj	UTSW	4	98456225	missense	probably benign	0.01
R2180:Patj	UTSW	4	98523502	critical splice donor site	probably null
R2655:Patj	UTSW	4	98437450	missense	possibly damaging	0.64
R3156:Patj	UTSW	4	98674228	missense	probably damaging	1.00
R3749:Patj	UTSW	4	98469600	missense	probably damaging	1.00
R3767:Patj	UTSW	4	98681219	nonsense	probably null
R3913:Patj	UTSW	4	98569101	missense	probably damaging	0.99
R3917:Patj	UTSW	4	98592008	nonsense	probably null
R3918:Patj	UTSW	4	98456218	missense	probably damaging	1.00
R4299:Patj	UTSW	4	98677321	missense	possibly damaging	0.89
R4355:Patj	UTSW	4	98650454	missense	possibly damaging	0.87
R4471:Patj	UTSW	4	98535579	missense	probably damaging	1.00
R4762:Patj	UTSW	4	98405570	nonsense	probably null
R4877:Patj	UTSW	4	98569058	missense	possibly damaging	0.94
R4945:Patj	UTSW	4	98495064	missense	probably damaging	0.97
R5274:Patj	UTSW	4	98518981	missense	probably damaging	0.99
R5343:Patj	UTSW	4	98676193	missense	probably damaging	1.00
R5554:Patj	UTSW	4	98454396	missense	possibly damaging	0.79
R5688:Patj	UTSW	4	98520810	nonsense	probably null
R5880:Patj	UTSW	4	98411145	missense	probably damaging	0.96
R5972:Patj	UTSW	4	98569053	missense	probably damaging	0.98
R6149:Patj	UTSW	4	98424325	missense	possibly damaging	0.72
R6192:Patj	UTSW	4	98456157	missense	probably damaging	1.00
R6265:Patj	UTSW	4	98469567	missense	probably benign	0.08
R6350:Patj	UTSW	4	98405618	missense	probably benign	0.26
R6363:Patj	UTSW	4	98431860	missense	probably benign	0.25
R6434:Patj	UTSW	4	98491629	missense	probably damaging	1.00
R6496:Patj	UTSW	4	98416752	missense	probably damaging	1.00
R6896:Patj	UTSW	4	98426050	missense	possibly damaging	0.87
R7039:Patj	UTSW	4	98569078	missense	probably damaging	0.96
R7040:Patj	UTSW	4	98441080	missense	probably benign	0.02
R7052:Patj	UTSW	4	98677260	missense	probably benign	0.03
R7066:Patj	UTSW	4	98413197	missense	probably benign	0.24
R7236:Patj	UTSW	4	98411057	missense	probably damaging	1.00
R7242:Patj	UTSW	4	98591933	missense	probably benign	0.26
R7260:Patj	UTSW	4	98416733	missense	possibly damaging	0.94
R7412:Patj	UTSW	4	98411139	missense	probably damaging	0.98
R7493:Patj	UTSW	4	98495061	missense	probably benign	0.41
R7570:Patj	UTSW	4	98424500	splice site	probably null
R7571:Patj	UTSW	4	98568980	missense	probably damaging	1.00
R7626:Patj	UTSW	4	98546987	missense	probably benign	0.35
R7658:Patj	UTSW	4	98688179	missense	probably damaging	1.00
R7664:Patj	UTSW	4	98496950	missense	possibly damaging	0.92
R7669:Patj	UTSW	4	98518942	missense	probably damaging	1.00
R7796:Patj	UTSW	4	98546983	start codon destroyed	probably benign	0.05

Posted On

2016-08-02