Incidental Mutation 'IGL02259:Plch1'
ID 286685
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Plch1
Ensembl Gene ENSMUSG00000036834
Gene Name phospholipase C, eta 1
Synonyms Plcl3, PLCeta1
Accession Numbers
Essential gene? Probably non essential (E-score: 0.198) question?
Stock # IGL02259
Quality Score
Status
Chromosome 3
Chromosomal Location 63603655-63806893 bp(-) (GRCm39)
Type of Mutation critical splice donor site (1 bp from exon)
DNA Base Change (assembly) C to T at 63630170 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000135424 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000048134] [ENSMUST00000059973] [ENSMUST00000084105] [ENSMUST00000159676] [ENSMUST00000160638] [ENSMUST00000175947] [ENSMUST00000177143] [ENSMUST00000162269]
AlphaFold Q4KWH5
Predicted Effect probably null
Transcript: ENSMUST00000048134
SMART Domains Protein: ENSMUSP00000047693
Gene: ENSMUSG00000036834

DomainStartEndE-ValueType
PH 3 112 2.37e-6 SMART
EFh 128 156 2.41e-4 SMART
EFh 164 193 1.54e-2 SMART
Pfam:EF-hand_like 198 280 2.2e-26 PFAM
PLCXc 281 426 3.13e-71 SMART
low complexity region 440 453 N/A INTRINSIC
low complexity region 564 581 N/A INTRINSIC
PLCYc 583 696 3.4e-49 SMART
C2 715 823 5.47e-22 SMART
low complexity region 979 997 N/A INTRINSIC
low complexity region 1079 1091 N/A INTRINSIC
low complexity region 1420 1435 N/A INTRINSIC
low complexity region 1543 1557 N/A INTRINSIC
Predicted Effect probably null
Transcript: ENSMUST00000059973
SMART Domains Protein: ENSMUSP00000058524
Gene: ENSMUSG00000036834

DomainStartEndE-ValueType
PH 21 130 1.1e-8 SMART
EFh 146 174 1.1e-6 SMART
EFh 182 211 7.6e-5 SMART
Pfam:EF-hand_like 216 298 4.5e-24 PFAM
PLCXc 299 444 1.6e-73 SMART
low complexity region 458 471 N/A INTRINSIC
low complexity region 582 599 N/A INTRINSIC
PLCYc 601 714 1.7e-51 SMART
C2 733 841 3.7e-24 SMART
low complexity region 1017 1035 N/A INTRINSIC
low complexity region 1117 1129 N/A INTRINSIC
low complexity region 1458 1473 N/A INTRINSIC
low complexity region 1581 1595 N/A INTRINSIC
Predicted Effect probably null
Transcript: ENSMUST00000084105
SMART Domains Protein: ENSMUSP00000081122
Gene: ENSMUSG00000036834

DomainStartEndE-ValueType
PH 21 130 2.37e-6 SMART
EFh 146 174 2.41e-4 SMART
EFh 182 211 1.54e-2 SMART
Pfam:EF-hand_like 216 298 2.4e-27 PFAM
PLCXc 299 444 3.13e-71 SMART
low complexity region 458 471 N/A INTRINSIC
low complexity region 583 600 N/A INTRINSIC
PLCYc 602 715 3.4e-49 SMART
C2 734 842 5.47e-22 SMART
low complexity region 1018 1036 N/A INTRINSIC
low complexity region 1118 1130 N/A INTRINSIC
low complexity region 1459 1474 N/A INTRINSIC
low complexity region 1582 1596 N/A INTRINSIC
Predicted Effect probably null
Transcript: ENSMUST00000159676
SMART Domains Protein: ENSMUSP00000124632
Gene: ENSMUSG00000036834

DomainStartEndE-ValueType
PH 21 130 2.37e-6 SMART
EFh 146 174 2.41e-4 SMART
EFh 182 211 1.54e-2 SMART
Pfam:EF-hand_like 216 298 1.8e-26 PFAM
PLCXc 299 444 3.13e-71 SMART
low complexity region 458 471 N/A INTRINSIC
low complexity region 583 600 N/A INTRINSIC
PLCYc 602 715 3.4e-49 SMART
C2 734 842 5.47e-22 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000159982
Predicted Effect probably null
Transcript: ENSMUST00000160638
SMART Domains Protein: ENSMUSP00000123921
Gene: ENSMUSG00000036834

DomainStartEndE-ValueType
PH 21 130 2.37e-6 SMART
EFh 146 174 2.41e-4 SMART
EFh 182 211 1.54e-2 SMART
Pfam:EF-hand_like 216 298 5.3e-28 PFAM
PLCXc 299 444 3.13e-71 SMART
low complexity region 458 471 N/A INTRINSIC
low complexity region 583 600 N/A INTRINSIC
PLCYc 602 715 3.4e-49 SMART
C2 734 842 5.47e-22 SMART
Predicted Effect probably null
Transcript: ENSMUST00000175947
SMART Domains Protein: ENSMUSP00000135353
Gene: ENSMUSG00000036834

DomainStartEndE-ValueType
PH 21 130 2.37e-6 SMART
EFh 146 174 2.41e-4 SMART
EFh 182 211 1.54e-2 SMART
Pfam:EF-hand_like 216 298 1.2e-26 PFAM
PLCXc 299 444 3.13e-71 SMART
low complexity region 458 471 N/A INTRINSIC
low complexity region 582 599 N/A INTRINSIC
PLCYc 601 714 3.4e-49 SMART
C2 733 841 5.47e-22 SMART
Predicted Effect probably null
Transcript: ENSMUST00000177143
SMART Domains Protein: ENSMUSP00000135424
Gene: ENSMUSG00000036834

DomainStartEndE-ValueType
PH 33 142 2.37e-6 SMART
EFh 158 186 2.41e-4 SMART
EFh 194 223 1.54e-2 SMART
Pfam:EF-hand_like 228 310 2.3e-26 PFAM
PLCXc 311 456 3.13e-71 SMART
low complexity region 470 483 N/A INTRINSIC
low complexity region 594 611 N/A INTRINSIC
PLCYc 613 726 3.4e-49 SMART
C2 745 853 5.47e-22 SMART
low complexity region 1009 1027 N/A INTRINSIC
low complexity region 1109 1121 N/A INTRINSIC
low complexity region 1450 1465 N/A INTRINSIC
low complexity region 1573 1587 N/A INTRINSIC
Predicted Effect probably null
Transcript: ENSMUST00000162269
SMART Domains Protein: ENSMUSP00000124463
Gene: ENSMUSG00000036834

DomainStartEndE-ValueType
PH 21 130 2.37e-6 SMART
EFh 146 174 2.41e-4 SMART
EFh 182 211 1.54e-2 SMART
Pfam:EF-hand_like 216 298 1.7e-26 PFAM
PLCXc 299 444 3.13e-71 SMART
low complexity region 458 471 N/A INTRINSIC
low complexity region 583 600 N/A INTRINSIC
PLCYc 602 715 3.4e-49 SMART
C2 734 842 5.47e-22 SMART
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] PLCH1 is a member of the PLC-eta family of the phosphoinositide-specific phospholipase C (PLC) superfamily of enzymes that cleave phosphatidylinositol 4,5-bisphosphate (PtdIns(4,5)P2) to generate second messengers inositol 1,4,5-trisphosphate (IP3) and diacylglycerol (DAG) (Hwang et al., 2005 [PubMed 15702972]).[supplied by OMIM, Jun 2009]
Allele List at MGI
Other mutations in this stock
Total: 34 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Ang6 A G 14: 44,239,363 (GRCm39) F122L probably benign Het
Atm A T 9: 53,429,794 (GRCm39) probably benign Het
Ccsap G A 8: 124,572,166 (GRCm39) T112M possibly damaging Het
Cd63 T C 10: 128,747,843 (GRCm39) S113P probably benign Het
Cntnap5c T C 17: 58,341,857 (GRCm39) F183L probably damaging Het
Cux1 T A 5: 136,355,687 (GRCm39) S321C probably damaging Het
Cyp2ab1 G A 16: 20,131,897 (GRCm39) T281I probably damaging Het
Cyp2c40 A C 19: 39,792,246 (GRCm39) C233G probably benign Het
Dnah8 T C 17: 30,978,588 (GRCm39) I2955T probably benign Het
Drc7 A G 8: 95,782,733 (GRCm39) T33A probably benign Het
Gigyf2 T A 1: 87,339,559 (GRCm39) Y481N probably damaging Het
Gsap A T 5: 21,391,398 (GRCm39) E13V probably benign Het
Ifna4 A G 4: 88,760,293 (GRCm39) K66E probably damaging Het
Kif14 T A 1: 136,427,840 (GRCm39) M1103K probably benign Het
Kif6 A T 17: 50,202,919 (GRCm39) probably benign Het
Lsm14a G T 7: 34,070,558 (GRCm39) P113T probably damaging Het
Med12l T A 3: 59,153,264 (GRCm39) N1096K probably damaging Het
Med13 C A 11: 86,248,327 (GRCm39) G9W possibly damaging Het
Minar1 A T 9: 89,484,412 (GRCm39) H328Q possibly damaging Het
Nbr1 G A 11: 101,468,816 (GRCm39) A639T probably damaging Het
Nid2 G T 14: 19,818,277 (GRCm39) probably null Het
Numa1 A G 7: 101,636,955 (GRCm39) D22G possibly damaging Het
Or13p10 G A 4: 118,523,634 (GRCm39) V307I probably benign Het
Or2n1 G T 17: 38,486,577 (GRCm39) V201L probably benign Het
Phkg2 A G 7: 127,181,458 (GRCm39) probably benign Het
Plcb4 T C 2: 135,752,166 (GRCm39) probably null Het
Prb1b A T 6: 132,289,637 (GRCm39) D62E unknown Het
Prl8a1 A C 13: 27,766,089 (GRCm39) V2G probably benign Het
Spata31 T C 13: 65,069,297 (GRCm39) S482P possibly damaging Het
Tbc1d4 A G 14: 101,703,166 (GRCm39) C760R probably damaging Het
Tgs1 A G 4: 3,604,743 (GRCm39) N722D probably damaging Het
Tmcc2 T C 1: 132,288,898 (GRCm39) D28G probably benign Het
Zfp457 C T 13: 67,444,471 (GRCm39) A11T possibly damaging Het
Zfp879 T C 11: 50,729,255 (GRCm39) S48G probably benign Het
Other mutations in Plch1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01397:Plch1 APN 3 63,639,150 (GRCm39) splice site probably null
IGL01542:Plch1 APN 3 63,639,070 (GRCm39) missense probably damaging 0.99
IGL01999:Plch1 APN 3 63,660,728 (GRCm39) missense probably damaging 1.00
IGL02153:Plch1 APN 3 63,688,772 (GRCm39) missense probably damaging 1.00
IGL02203:Plch1 APN 3 63,606,160 (GRCm39) missense possibly damaging 0.46
IGL02220:Plch1 APN 3 63,606,382 (GRCm39) missense probably damaging 0.97
IGL02268:Plch1 APN 3 63,606,704 (GRCm39) makesense probably null
IGL02411:Plch1 APN 3 63,605,177 (GRCm39) splice site probably null
IGL02472:Plch1 APN 3 63,609,270 (GRCm39) missense probably damaging 1.00
IGL02477:Plch1 APN 3 63,660,714 (GRCm39) missense probably damaging 1.00
IGL02503:Plch1 APN 3 63,605,285 (GRCm39) missense probably damaging 1.00
IGL02800:Plch1 APN 3 63,605,899 (GRCm39) missense probably benign 0.21
IGL03167:Plch1 APN 3 63,630,165 (GRCm39) splice site probably benign
IGL03182:Plch1 APN 3 63,610,015 (GRCm39) nonsense probably null
IGL03197:Plch1 APN 3 63,660,591 (GRCm39) missense probably damaging 1.00
IGL03251:Plch1 APN 3 63,691,423 (GRCm39) missense possibly damaging 0.93
BB009:Plch1 UTSW 3 63,609,402 (GRCm39) missense probably benign 0.05
BB019:Plch1 UTSW 3 63,609,402 (GRCm39) missense probably benign 0.05
R0335:Plch1 UTSW 3 63,618,399 (GRCm39) missense probably damaging 1.00
R0347:Plch1 UTSW 3 63,660,737 (GRCm39) missense probably damaging 1.00
R0631:Plch1 UTSW 3 63,606,640 (GRCm39) missense probably benign 0.23
R0687:Plch1 UTSW 3 63,623,450 (GRCm39) missense probably damaging 1.00
R0738:Plch1 UTSW 3 63,609,974 (GRCm39) intron probably benign
R0883:Plch1 UTSW 3 63,660,677 (GRCm39) missense probably damaging 1.00
R1437:Plch1 UTSW 3 63,604,954 (GRCm39) missense probably benign 0.37
R1678:Plch1 UTSW 3 63,648,115 (GRCm39) missense probably damaging 1.00
R1738:Plch1 UTSW 3 63,626,659 (GRCm39) missense probably benign 0.12
R1929:Plch1 UTSW 3 63,651,956 (GRCm39) missense probably damaging 1.00
R1955:Plch1 UTSW 3 63,662,688 (GRCm39) missense probably damaging 0.98
R2078:Plch1 UTSW 3 63,609,364 (GRCm39) missense probably benign 0.01
R2112:Plch1 UTSW 3 63,630,227 (GRCm39) missense probably damaging 1.00
R2158:Plch1 UTSW 3 63,628,655 (GRCm39) missense probably benign 0.00
R2165:Plch1 UTSW 3 63,605,903 (GRCm39) missense probably benign 0.01
R2259:Plch1 UTSW 3 63,605,398 (GRCm39) missense possibly damaging 0.94
R2271:Plch1 UTSW 3 63,651,956 (GRCm39) missense probably damaging 1.00
R3110:Plch1 UTSW 3 63,616,952 (GRCm39) missense probably damaging 1.00
R3112:Plch1 UTSW 3 63,616,952 (GRCm39) missense probably damaging 1.00
R3407:Plch1 UTSW 3 63,606,768 (GRCm39) unclassified probably benign
R3408:Plch1 UTSW 3 63,606,768 (GRCm39) unclassified probably benign
R3791:Plch1 UTSW 3 63,606,944 (GRCm39) missense probably benign
R3793:Plch1 UTSW 3 63,605,252 (GRCm39) missense probably damaging 0.96
R3928:Plch1 UTSW 3 63,675,044 (GRCm39) missense probably damaging 1.00
R4211:Plch1 UTSW 3 63,618,640 (GRCm39) missense probably damaging 1.00
R4212:Plch1 UTSW 3 63,778,180 (GRCm39) start gained probably benign
R4223:Plch1 UTSW 3 63,609,321 (GRCm39) missense probably damaging 1.00
R4491:Plch1 UTSW 3 63,648,160 (GRCm39) missense probably damaging 1.00
R4589:Plch1 UTSW 3 63,688,928 (GRCm39) missense probably damaging 1.00
R4656:Plch1 UTSW 3 63,611,598 (GRCm39) missense probably damaging 1.00
R4701:Plch1 UTSW 3 63,606,917 (GRCm39) splice site probably null
R4716:Plch1 UTSW 3 63,688,967 (GRCm39) missense probably damaging 1.00
R4772:Plch1 UTSW 3 63,660,746 (GRCm39) missense probably damaging 1.00
R4902:Plch1 UTSW 3 63,648,264 (GRCm39) intron probably benign
R5058:Plch1 UTSW 3 63,630,202 (GRCm39) missense probably damaging 1.00
R5092:Plch1 UTSW 3 63,606,131 (GRCm39) missense probably benign 0.02
R5093:Plch1 UTSW 3 63,681,136 (GRCm39) missense probably damaging 0.99
R5210:Plch1 UTSW 3 63,607,199 (GRCm39) critical splice donor site probably null
R5368:Plch1 UTSW 3 63,609,394 (GRCm39) missense possibly damaging 0.82
R5373:Plch1 UTSW 3 63,605,499 (GRCm39) missense probably benign 0.01
R5374:Plch1 UTSW 3 63,605,499 (GRCm39) missense probably benign 0.01
R5501:Plch1 UTSW 3 63,615,162 (GRCm39) missense probably damaging 1.00
R5606:Plch1 UTSW 3 63,648,108 (GRCm39) missense probably benign 0.35
R5738:Plch1 UTSW 3 63,681,076 (GRCm39) missense probably damaging 1.00
R5835:Plch1 UTSW 3 63,604,943 (GRCm39) missense probably benign
R6106:Plch1 UTSW 3 63,609,444 (GRCm39) missense probably damaging 1.00
R6107:Plch1 UTSW 3 63,609,444 (GRCm39) missense probably damaging 1.00
R6108:Plch1 UTSW 3 63,609,444 (GRCm39) missense probably damaging 1.00
R6110:Plch1 UTSW 3 63,606,279 (GRCm39) missense possibly damaging 0.62
R6116:Plch1 UTSW 3 63,609,444 (GRCm39) missense probably damaging 1.00
R6147:Plch1 UTSW 3 63,630,302 (GRCm39) missense probably damaging 1.00
R6195:Plch1 UTSW 3 63,648,210 (GRCm39) missense probably damaging 1.00
R6315:Plch1 UTSW 3 63,688,811 (GRCm39) nonsense probably null
R6316:Plch1 UTSW 3 63,688,811 (GRCm39) nonsense probably null
R6317:Plch1 UTSW 3 63,688,811 (GRCm39) nonsense probably null
R6318:Plch1 UTSW 3 63,688,811 (GRCm39) nonsense probably null
R6324:Plch1 UTSW 3 63,688,811 (GRCm39) nonsense probably null
R6325:Plch1 UTSW 3 63,688,811 (GRCm39) nonsense probably null
R6326:Plch1 UTSW 3 63,688,811 (GRCm39) nonsense probably null
R6479:Plch1 UTSW 3 63,651,931 (GRCm39) missense probably benign 0.06
R6544:Plch1 UTSW 3 63,758,399 (GRCm39) missense probably damaging 1.00
R6767:Plch1 UTSW 3 63,662,765 (GRCm39) missense probably damaging 1.00
R6829:Plch1 UTSW 3 63,604,939 (GRCm39) missense probably damaging 0.99
R6891:Plch1 UTSW 3 63,605,504 (GRCm39) missense probably benign
R6893:Plch1 UTSW 3 63,660,562 (GRCm39) nonsense probably null
R6921:Plch1 UTSW 3 63,615,155 (GRCm39) missense possibly damaging 0.90
R7298:Plch1 UTSW 3 63,623,458 (GRCm39) nonsense probably null
R7396:Plch1 UTSW 3 63,606,375 (GRCm39) missense probably benign 0.00
R7420:Plch1 UTSW 3 63,630,278 (GRCm39) missense probably damaging 1.00
R7566:Plch1 UTSW 3 63,688,663 (GRCm39) splice site probably null
R7572:Plch1 UTSW 3 63,648,105 (GRCm39) missense possibly damaging 0.89
R7649:Plch1 UTSW 3 63,605,590 (GRCm39) nonsense probably null
R7696:Plch1 UTSW 3 63,662,726 (GRCm39) missense probably benign
R7851:Plch1 UTSW 3 63,605,855 (GRCm39) missense probably damaging 0.99
R7853:Plch1 UTSW 3 63,681,068 (GRCm39) missense probably benign 0.44
R7932:Plch1 UTSW 3 63,609,402 (GRCm39) missense probably benign 0.05
R7983:Plch1 UTSW 3 63,615,164 (GRCm39) missense probably damaging 1.00
R8057:Plch1 UTSW 3 63,605,557 (GRCm39) missense probably benign
R8066:Plch1 UTSW 3 63,618,478 (GRCm39) nonsense probably null
R8206:Plch1 UTSW 3 63,610,047 (GRCm39) splice site probably null
R8678:Plch1 UTSW 3 63,623,468 (GRCm39) nonsense probably null
R8731:Plch1 UTSW 3 63,605,059 (GRCm39) missense probably benign 0.37
R8739:Plch1 UTSW 3 63,778,106 (GRCm39) missense possibly damaging 0.66
R8853:Plch1 UTSW 3 63,688,967 (GRCm39) missense probably damaging 1.00
R8875:Plch1 UTSW 3 63,618,391 (GRCm39) missense probably damaging 1.00
R8945:Plch1 UTSW 3 63,639,039 (GRCm39) missense probably benign 0.02
R8947:Plch1 UTSW 3 63,691,547 (GRCm39) missense probably damaging 0.99
R8953:Plch1 UTSW 3 63,639,126 (GRCm39) missense possibly damaging 0.94
R9065:Plch1 UTSW 3 63,674,924 (GRCm39) missense probably damaging 1.00
R9068:Plch1 UTSW 3 63,612,036 (GRCm39) missense probably damaging 1.00
R9188:Plch1 UTSW 3 63,639,075 (GRCm39) missense probably null 1.00
R9238:Plch1 UTSW 3 63,606,412 (GRCm39) missense possibly damaging 0.53
R9478:Plch1 UTSW 3 63,606,825 (GRCm39) missense probably benign 0.01
R9526:Plch1 UTSW 3 63,758,549 (GRCm39) intron probably benign
R9539:Plch1 UTSW 3 63,691,427 (GRCm39) missense probably null 0.01
R9634:Plch1 UTSW 3 63,605,152 (GRCm39) missense probably damaging 1.00
R9643:Plch1 UTSW 3 63,660,747 (GRCm39) missense
R9659:Plch1 UTSW 3 63,681,136 (GRCm39) missense probably benign 0.17
R9711:Plch1 UTSW 3 63,615,176 (GRCm39) missense probably damaging 1.00
R9788:Plch1 UTSW 3 63,681,136 (GRCm39) missense probably benign 0.17
R9799:Plch1 UTSW 3 63,605,591 (GRCm39) missense possibly damaging 0.89
RF018:Plch1 UTSW 3 63,628,636 (GRCm39) missense probably damaging 1.00
X0028:Plch1 UTSW 3 63,651,930 (GRCm39) missense possibly damaging 0.94
Posted On 2015-04-16