Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01542:Plch1'

90181

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 #

IGL01542

Quality Score

Status

Chromosome

Chromosomal Location

63603655-63806893 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 63639070 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Valine at position 468 (I468V)

Ref Sequence

ENSEMBL: ENSMUSP00000124463 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000048134] [ENSMUST00000059973] [ENSMUST00000084105] [ENSMUST00000159676] [ENSMUST00000160638] [ENSMUST00000162269] [ENSMUST00000177143] [ENSMUST00000175947]

AlphaFold

Q4KWH5

Predicted Effect

probably damaging
Transcript: ENSMUST00000048134
AA Change: I450V

PolyPhen 2 Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000047693
Gene: ENSMUSG00000036834
AA Change: I450V

Domain	Start	End	E-Value	Type
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 damaging
Transcript: ENSMUST00000059973
AA Change: I468V

PolyPhen 2 Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000058524
Gene: ENSMUSG00000036834
AA Change: I468V

Domain	Start	End	E-Value	Type
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 damaging
Transcript: ENSMUST00000084105
AA Change: I468V

PolyPhen 2 Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000081122
Gene: ENSMUSG00000036834
AA Change: I468V

Domain	Start	End	E-Value	Type
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 damaging
Transcript: ENSMUST00000159676
AA Change: I468V

PolyPhen 2 Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000124632
Gene: ENSMUSG00000036834
AA Change: I468V

Domain	Start	End	E-Value	Type
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

possibly damaging
Transcript: ENSMUST00000160638
AA Change: I468V

PolyPhen 2 Score 0.833 (Sensitivity: 0.84; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000123921
Gene: ENSMUSG00000036834
AA Change: I468V

Domain	Start	End	E-Value	Type
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 damaging
Transcript: ENSMUST00000162269
AA Change: I468V

PolyPhen 2 Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000124463
Gene: ENSMUSG00000036834
AA Change: I468V

Domain	Start	End	E-Value	Type
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

Predicted Effect

probably damaging
Transcript: ENSMUST00000177143
AA Change: I480V

PolyPhen 2 Score 0.991 (Sensitivity: 0.71; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000135424
Gene: ENSMUSG00000036834
AA Change: I480V

Domain	Start	End	E-Value	Type
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

possibly damaging
Transcript: ENSMUST00000175947
AA Change: I468V

PolyPhen 2 Score 0.860 (Sensitivity: 0.83; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000135353
Gene: ENSMUSG00000036834
AA Change: I468V

Domain	Start	End	E-Value	Type
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

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: 27 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Arap3	G	A	18: 38,123,889 (GRCm39)	R377C	probably damaging	Het
Arhgap20	A	G	9: 51,750,187 (GRCm39)	M316V	probably benign	Het
Chd7	T	G	4: 8,859,285 (GRCm39)	N2458K	possibly damaging	Het
Clock	T	C	5: 76,379,322 (GRCm39)	E538G	possibly damaging	Het
Clpb	G	A	7: 101,436,712 (GRCm39)	V596I	probably damaging	Het
Col9a3	T	C	2: 180,251,109 (GRCm39)		probably benign	Het
D130043K22Rik	G	A	13: 25,060,020 (GRCm39)		probably null	Het
Drd4	T	C	7: 140,873,744 (GRCm39)		probably benign	Het
Fam228b	A	T	12: 4,813,055 (GRCm39)	I105N	probably damaging	Het
Gm20939	A	T	17: 95,181,721 (GRCm39)		probably benign	Het
Gm4952	A	G	19: 12,595,771 (GRCm39)	T54A	possibly damaging	Het
Hbs1l	T	C	10: 21,183,655 (GRCm39)	V132A	probably benign	Het
Kpna2	T	A	11: 106,882,027 (GRCm39)	E266D	probably benign	Het
Lars1	T	C	18: 42,347,892 (GRCm39)	E977G	probably benign	Het
Lrrn4	T	C	2: 132,721,392 (GRCm39)	T142A	probably benign	Het
Myo19	T	C	11: 84,800,372 (GRCm39)	L919P	probably damaging	Het
Nhlrc1	A	T	13: 47,167,607 (GRCm39)	F217I	probably damaging	Het
Or10q12	T	C	19: 13,745,901 (GRCm39)	F65S	probably damaging	Het
Rergl	T	A	6: 139,470,496 (GRCm39)		probably null	Het
Sctr	A	G	1: 119,972,499 (GRCm39)		probably benign	Het
Sdhb	T	C	4: 140,700,278 (GRCm39)	V126A	probably benign	Het
Smad3	C	T	9: 63,562,868 (GRCm39)	R214Q	probably damaging	Het
Spmip3	A	G	1: 177,570,950 (GRCm39)	T95A	possibly damaging	Het
Tdrd9	T	C	12: 112,013,423 (GRCm39)	M1219T	possibly damaging	Het
Tmem167b	A	T	3: 108,466,222 (GRCm39)	N75K	possibly damaging	Het
Vmn2r83	T	C	10: 79,314,846 (GRCm39)	S365P	probably benign	Het
Vps16	T	C	2: 130,280,314 (GRCm39)	F153L	probably damaging	Het

Other mutations in Plch1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01397:Plch1	APN	3	63,639,150 (GRCm39)	splice site	probably null
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
IGL02259:Plch1	APN	3	63,630,170 (GRCm39)	critical splice donor site	probably null
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

2013-12-03