Incidental Mutation 'IGL00089:Patj'
ID 1723
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Patj
Ensembl Gene ENSMUSG00000061859
Gene Name PATJ, crumbs cell polarity complex component
Synonyms Cipp, Inadl
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # IGL00089
Quality Score
Status
Chromosome 4
Chromosomal Location 98284022-98607840 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 98353343 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Phenylalanine to Leucine at position 629 (F629L)
Ref Sequence ENSEMBL: ENSMUSP00000102649 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000041284] [ENSMUST00000107029] [ENSMUST00000107033] [ENSMUST00000107034]
AlphaFold Q63ZW7
Predicted Effect probably damaging
Transcript: ENSMUST00000041284
AA Change: F633L

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000049176
Gene: ENSMUSG00000061859
AA Change: F633L

DomainStartEndE-ValueType
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: ENSMUST00000107029
AA Change: F60L

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000102644
Gene: ENSMUSG00000061859
AA Change: F60L

DomainStartEndE-ValueType
PDZ 1 68 1e-9 SMART
PDZ 123 202 4.7e-18 SMART
low complexity region 407 418 N/A INTRINSIC
low complexity region 481 489 N/A INTRINSIC
PDZ 510 593 4.3e-21 SMART
PDZ 680 755 2.9e-21 SMART
low complexity region 783 793 N/A INTRINSIC
low complexity region 837 855 N/A INTRINSIC
PDZ 907 982 2.2e-26 SMART
PDZ 1004 1077 1.2e-21 SMART
PDZ 1145 1222 1e-20 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000107033
SMART Domains Protein: ENSMUSP00000102648
Gene: ENSMUSG00000061859

DomainStartEndE-ValueType
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: F629L

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000102649
Gene: ENSMUSG00000061859
AA Change: F629L

DomainStartEndE-ValueType
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 unknown
Transcript: ENSMUST00000142103
AA Change: F111L
SMART Domains Protein: ENSMUSP00000116021
Gene: ENSMUSG00000061859
AA Change: F111L

DomainStartEndE-ValueType
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: 80 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
A430033K04Rik T C 5: 138,645,854 (GRCm39) S580P probably damaging Het
Abca12 T A 1: 71,342,700 (GRCm39) I927F possibly damaging Het
Abca8a A G 11: 109,941,765 (GRCm39) V1168A possibly damaging Het
Abcc1 T A 16: 14,278,847 (GRCm39) N1052K probably benign Het
Adamts13 C A 2: 26,895,373 (GRCm39) Q1155K probably benign Het
Adgre4 A T 17: 56,098,915 (GRCm39) probably benign Het
Ahsa2 T C 11: 23,446,837 (GRCm39) E42G probably damaging Het
Ankk1 T G 9: 49,333,200 (GRCm39) I95L probably benign Het
Anpep A T 7: 79,491,734 (GRCm39) L89Q probably damaging Het
Arl5a T C 2: 52,306,083 (GRCm39) N83S probably benign Het
Atp11b A G 3: 35,863,525 (GRCm39) probably null Het
Atp6v0a2 T C 5: 124,798,841 (GRCm39) F849L probably benign Het
BC106179 A G 16: 23,043,022 (GRCm39) probably benign Het
Bcl2a1c T C 9: 114,159,608 (GRCm39) *129Q probably null Het
C2cd5 T C 6: 142,963,671 (GRCm39) I888V probably null Het
Calb2 A T 8: 110,872,303 (GRCm39) L227Q probably damaging Het
Ccp110 G T 7: 118,321,647 (GRCm39) C434F possibly damaging Het
Cd209c A T 8: 3,990,339 (GRCm39) C160S probably damaging Het
Chmp1a A G 8: 123,935,758 (GRCm39) probably null Het
Col6a6 T A 9: 105,635,390 (GRCm39) probably null Het
Cyld T A 8: 89,432,085 (GRCm39) C28S probably benign Het
Dapk1 A T 13: 60,908,854 (GRCm39) I1156F probably benign Het
Dennd1a A T 2: 38,133,454 (GRCm39) Y16* probably null Het
Dennd3 T G 15: 73,438,982 (GRCm39) S1117A probably benign Het
Dgka A T 10: 128,568,955 (GRCm39) D203E probably damaging Het
Dhx15 G T 5: 52,324,117 (GRCm39) L392I probably damaging Het
Dnah10 A G 5: 124,823,680 (GRCm39) D567G probably benign Het
Eaf1 T A 14: 31,226,483 (GRCm39) probably null Het
Efnb2 T C 8: 8,710,589 (GRCm39) D9G probably benign Het
Fcrla A T 1: 170,755,067 (GRCm39) C15S probably benign Het
Flt3 T C 5: 147,291,686 (GRCm39) N588S probably damaging Het
Garre1 A T 7: 33,945,412 (GRCm39) probably benign Het
Gm10146 A T 10: 78,229,307 (GRCm39) noncoding transcript Het
Gnpat T C 8: 125,603,653 (GRCm39) probably benign Het
Golm2 T C 2: 121,741,274 (GRCm39) probably benign Het
Gpr39 A C 1: 125,800,468 (GRCm39) R406S probably benign Het
H2-Aa T C 17: 34,503,504 (GRCm39) H31R probably damaging Het
Helz2 G T 2: 180,871,495 (GRCm39) R2706S probably damaging Het
Hip1r T A 5: 124,127,798 (GRCm39) probably null Het
Hnf4g A G 3: 3,713,142 (GRCm39) T239A probably benign Het
Hps5 A T 7: 46,425,362 (GRCm39) I413N probably damaging Het
Hspg2 G A 4: 137,256,131 (GRCm39) G1413R probably damaging Het
Itgax T G 7: 127,734,498 (GRCm39) M352R probably damaging Het
Katna1 T A 10: 7,638,568 (GRCm39) M433K probably damaging Het
Kcna4 T G 2: 107,126,207 (GRCm39) S314A probably damaging Het
Kif13b C T 14: 64,907,142 (GRCm39) T42I possibly damaging Het
Krt78 G A 15: 101,855,945 (GRCm39) T622I probably benign Het
Krt86 T A 15: 101,374,396 (GRCm39) M263K possibly damaging Het
Lap3 A G 5: 45,663,511 (GRCm39) probably benign Het
Lepr A T 4: 101,672,232 (GRCm39) R1085S probably benign Het
Lmcd1 A G 6: 112,306,769 (GRCm39) I314V probably benign Het
Luc7l2 T C 6: 38,585,105 (GRCm39) probably benign Het
Mcm2 T A 6: 88,870,383 (GRCm39) M117L probably benign Het
Mdh2 T C 5: 135,815,138 (GRCm39) Y133H probably damaging Het
Minar1 C T 9: 89,483,853 (GRCm39) V515I probably benign Het
Mlkl T A 8: 112,046,060 (GRCm39) R317* probably null Het
Mrps34 T C 17: 25,114,344 (GRCm39) L68P probably damaging Het
Muc4 G A 16: 32,754,086 (GRCm38) G1321R probably benign Het
Myo18a A G 11: 77,738,764 (GRCm39) E1299G probably damaging Het
Nlrp14 T C 7: 106,791,709 (GRCm39) L139P possibly damaging Het
Nudcd2 A G 11: 40,627,413 (GRCm39) D86G probably damaging Het
Or10u4 T A 10: 129,801,673 (GRCm39) R293W probably damaging Het
Or4c107 T A 2: 88,789,110 (GRCm39) I100N probably damaging Het
Or4f62 A T 2: 111,986,412 (GRCm39) M39L probably benign Het
Rad23a A G 8: 85,562,524 (GRCm39) F280L probably damaging Het
Ralgapa1 C A 12: 55,769,558 (GRCm39) G811V probably damaging Het
St18 A G 1: 6,872,796 (GRCm39) D177G probably benign Het
Sult1c2 A C 17: 54,140,147 (GRCm39) Y159* probably null Het
Surf6 T A 2: 26,783,081 (GRCm39) probably null Het
Susd6 T G 12: 80,916,841 (GRCm39) probably benign Het
Sypl2 G A 3: 108,133,742 (GRCm39) probably benign Het
Ubr5 A T 15: 37,984,280 (GRCm39) F2289Y probably damaging Het
Vcl T C 14: 21,037,071 (GRCm39) I223T probably benign Het
Vmn1r234 C T 17: 21,449,860 (GRCm39) T258I possibly damaging Het
Vmn2r58 T A 7: 41,513,854 (GRCm39) K263M possibly damaging Het
Vmo1 A T 11: 70,404,424 (GRCm39) N192K probably damaging Het
Wrnip1 A G 13: 33,000,312 (GRCm39) N440D probably damaging Het
Zc3h4 T C 7: 16,156,159 (GRCm39) Y264H unknown Het
Zfp639 T G 3: 32,573,902 (GRCm39) probably null Het
Zfp831 T C 2: 174,488,078 (GRCm39) Y918H possibly damaging Het
Other mutations in Patj
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00095:Patj APN 4 98,423,799 (GRCm39) missense possibly damaging 0.78
IGL00517:Patj APN 4 98,329,308 (GRCm39) missense possibly damaging 0.95
IGL00802:Patj APN 4 98,312,643 (GRCm39) missense possibly damaging 0.93
IGL01064:Patj APN 4 98,385,210 (GRCm39) missense possibly damaging 0.95
IGL01110:Patj APN 4 98,301,261 (GRCm39) missense probably damaging 0.99
IGL01407:Patj APN 4 98,301,287 (GRCm39) missense possibly damaging 0.49
IGL01821:Patj APN 4 98,344,448 (GRCm39) missense probably damaging 1.00
IGL02399:Patj APN 4 98,480,173 (GRCm39) missense probably damaging 1.00
IGL02494:Patj APN 4 98,592,224 (GRCm39) splice site probably benign
IGL02803:Patj APN 4 98,314,301 (GRCm39) missense probably damaging 0.99
IGL02931:Patj APN 4 98,299,410 (GRCm39) splice site probably benign
IGL03017:Patj APN 4 98,353,264 (GRCm39) splice site probably benign
IGL03115:Patj APN 4 98,332,040 (GRCm39) missense probably damaging 1.00
IGL03209:Patj APN 4 98,353,377 (GRCm39) missense probably null 1.00
IGL03377:Patj APN 4 98,353,341 (GRCm39) missense probably damaging 1.00
D4186:Patj UTSW 4 98,526,999 (GRCm39) missense probably benign 0.17
PIT4531001:Patj UTSW 4 98,329,327 (GRCm39) missense probably damaging 0.98
R0136:Patj UTSW 4 98,555,885 (GRCm39) missense probably damaging 1.00
R0294:Patj UTSW 4 98,385,285 (GRCm39) missense probably damaging 0.99
R0376:Patj UTSW 4 98,457,224 (GRCm39) missense probably damaging 1.00
R0463:Patj UTSW 4 98,562,545 (GRCm39) missense probably damaging 1.00
R0465:Patj UTSW 4 98,423,744 (GRCm39) splice site probably null
R0466:Patj UTSW 4 98,576,393 (GRCm39) missense probably damaging 1.00
R0544:Patj UTSW 4 98,457,347 (GRCm39) missense probably damaging 1.00
R0624:Patj UTSW 4 98,569,472 (GRCm39) splice site probably benign
R0657:Patj UTSW 4 98,555,885 (GRCm39) missense probably damaging 1.00
R1281:Patj UTSW 4 98,304,932 (GRCm39) missense probably damaging 1.00
R1393:Patj UTSW 4 98,312,648 (GRCm39) missense probably benign 0.01
R1480:Patj UTSW 4 98,357,819 (GRCm39) missense probably damaging 1.00
R1667:Patj UTSW 4 98,301,264 (GRCm39) missense probably damaging 1.00
R1728:Patj UTSW 4 98,320,017 (GRCm39) missense possibly damaging 0.50
R1729:Patj UTSW 4 98,320,017 (GRCm39) missense possibly damaging 0.50
R1797:Patj UTSW 4 98,575,675 (GRCm39) missense probably damaging 1.00
R1818:Patj UTSW 4 98,511,885 (GRCm39) missense possibly damaging 0.85
R1835:Patj UTSW 4 98,379,827 (GRCm39) missense probably benign 0.00
R1880:Patj UTSW 4 98,385,477 (GRCm39) missense probably benign 0.00
R2009:Patj UTSW 4 98,344,406 (GRCm39) missense probably damaging 1.00
R2090:Patj UTSW 4 98,325,560 (GRCm39) unclassified probably benign
R2120:Patj UTSW 4 98,344,462 (GRCm39) missense probably benign 0.01
R2180:Patj UTSW 4 98,411,739 (GRCm39) critical splice donor site probably null
R2655:Patj UTSW 4 98,325,687 (GRCm39) missense possibly damaging 0.64
R3156:Patj UTSW 4 98,562,465 (GRCm39) missense probably damaging 1.00
R3749:Patj UTSW 4 98,357,837 (GRCm39) missense probably damaging 1.00
R3767:Patj UTSW 4 98,569,456 (GRCm39) nonsense probably null
R3913:Patj UTSW 4 98,457,338 (GRCm39) missense probably damaging 0.99
R3917:Patj UTSW 4 98,480,245 (GRCm39) nonsense probably null
R3918:Patj UTSW 4 98,344,455 (GRCm39) missense probably damaging 1.00
R4299:Patj UTSW 4 98,565,558 (GRCm39) missense possibly damaging 0.89
R4355:Patj UTSW 4 98,538,691 (GRCm39) missense possibly damaging 0.87
R4471:Patj UTSW 4 98,423,816 (GRCm39) missense probably damaging 1.00
R4762:Patj UTSW 4 98,293,807 (GRCm39) nonsense probably null
R4877:Patj UTSW 4 98,457,295 (GRCm39) missense possibly damaging 0.94
R4945:Patj UTSW 4 98,383,301 (GRCm39) missense probably damaging 0.97
R5274:Patj UTSW 4 98,407,218 (GRCm39) missense probably damaging 0.99
R5343:Patj UTSW 4 98,564,430 (GRCm39) missense probably damaging 1.00
R5554:Patj UTSW 4 98,342,633 (GRCm39) missense possibly damaging 0.79
R5688:Patj UTSW 4 98,409,047 (GRCm39) nonsense probably null
R5880:Patj UTSW 4 98,299,382 (GRCm39) missense probably damaging 0.96
R5972:Patj UTSW 4 98,457,290 (GRCm39) missense probably damaging 0.98
R6149:Patj UTSW 4 98,312,562 (GRCm39) missense possibly damaging 0.72
R6192:Patj UTSW 4 98,344,394 (GRCm39) missense probably damaging 1.00
R6265:Patj UTSW 4 98,357,804 (GRCm39) missense probably benign 0.08
R6350:Patj UTSW 4 98,293,855 (GRCm39) missense probably benign 0.26
R6363:Patj UTSW 4 98,320,097 (GRCm39) missense probably benign 0.25
R6434:Patj UTSW 4 98,379,866 (GRCm39) missense probably damaging 1.00
R6496:Patj UTSW 4 98,304,989 (GRCm39) missense probably damaging 1.00
R6896:Patj UTSW 4 98,314,287 (GRCm39) missense possibly damaging 0.87
R7039:Patj UTSW 4 98,457,315 (GRCm39) missense probably damaging 0.96
R7040:Patj UTSW 4 98,329,317 (GRCm39) missense probably benign 0.02
R7052:Patj UTSW 4 98,565,497 (GRCm39) missense probably benign 0.03
R7066:Patj UTSW 4 98,301,434 (GRCm39) missense probably benign 0.24
R7236:Patj UTSW 4 98,299,294 (GRCm39) missense probably damaging 1.00
R7242:Patj UTSW 4 98,480,170 (GRCm39) missense probably benign 0.26
R7260:Patj UTSW 4 98,304,970 (GRCm39) missense possibly damaging 0.94
R7412:Patj UTSW 4 98,299,376 (GRCm39) missense probably damaging 0.98
R7493:Patj UTSW 4 98,383,298 (GRCm39) missense probably benign 0.41
R7570:Patj UTSW 4 98,312,737 (GRCm39) splice site probably null
R7571:Patj UTSW 4 98,457,217 (GRCm39) missense probably damaging 1.00
R7626:Patj UTSW 4 98,435,224 (GRCm39) missense probably benign 0.35
R7658:Patj UTSW 4 98,576,416 (GRCm39) missense probably damaging 1.00
R7664:Patj UTSW 4 98,385,187 (GRCm39) missense possibly damaging 0.92
R7669:Patj UTSW 4 98,407,179 (GRCm39) missense probably damaging 1.00
R7796:Patj UTSW 4 98,435,220 (GRCm39) start codon destroyed probably benign 0.05
R7870:Patj UTSW 4 98,312,553 (GRCm39) missense probably damaging 1.00
R7883:Patj UTSW 4 98,499,372 (GRCm39) missense probably benign 0.00
R7948:Patj UTSW 4 98,312,547 (GRCm39) missense probably damaging 0.99
R8050:Patj UTSW 4 98,427,201 (GRCm39) missense probably benign 0.00
R8183:Patj UTSW 4 98,562,466 (GRCm39) missense probably damaging 0.96
R8239:Patj UTSW 4 98,570,308 (GRCm39) missense possibly damaging 0.90
R8483:Patj UTSW 4 98,312,539 (GRCm39) missense probably damaging 1.00
R8546:Patj UTSW 4 98,325,634 (GRCm39) missense probably benign 0.00
R8746:Patj UTSW 4 98,394,067 (GRCm39) intron probably benign
R8844:Patj UTSW 4 98,480,206 (GRCm39) missense probably damaging 1.00
R8905:Patj UTSW 4 98,385,412 (GRCm39) missense probably damaging 1.00
R8912:Patj UTSW 4 98,385,565 (GRCm39) missense
R8959:Patj UTSW 4 98,480,212 (GRCm39) missense probably damaging 0.99
R9083:Patj UTSW 4 98,401,871 (GRCm39) missense probably benign 0.03
R9173:Patj UTSW 4 98,526,958 (GRCm39) missense probably benign
R9206:Patj UTSW 4 98,427,310 (GRCm39) missense unknown
R9208:Patj UTSW 4 98,427,310 (GRCm39) missense unknown
R9347:Patj UTSW 4 98,576,484 (GRCm39) missense probably benign 0.19
R9560:Patj UTSW 4 98,570,289 (GRCm39) missense probably benign 0.29
R9609:Patj UTSW 4 98,576,473 (GRCm39) missense probably benign 0.00
R9617:Patj UTSW 4 98,393,991 (GRCm39) missense probably benign 0.03
R9658:Patj UTSW 4 98,353,377 (GRCm39) missense probably null 1.00
R9756:Patj UTSW 4 98,565,535 (GRCm39) missense probably benign
Z1176:Patj UTSW 4 98,564,555 (GRCm39) nonsense probably null
Z1176:Patj UTSW 4 98,499,367 (GRCm39) missense probably benign 0.11
Z1177:Patj UTSW 4 98,385,411 (GRCm39) missense probably benign 0.01
Posted On 2011-07-12