Mutagenetix > Incidental Mutation

Incidental Mutation 'R3408:Plch1'

475869

Institutional Source

Beutler Lab

Gene Symbol

Plch1

Ensembl Gene

ENSMUSG00000036834

Gene Name

phospholipase C, eta 1

Synonyms

Plcl3, PLCeta1

MMRRC Submission

040626-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.244) question?

Stock #

R3408 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

63603655-63806893 bp(-) (GRCm39)

Type of Mutation

unclassified

DNA Base Change (assembly)

A to G at 63606768 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000135353 (fasta)

Gene Model

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

AlphaFold

Q4KWH5

Predicted Effect

silent
Transcript: ENSMUST00000048134

SMART Domains

Protein: ENSMUSP00000047693
Gene: ENSMUSG00000036834

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

silent
Transcript: ENSMUST00000059973

SMART Domains

Protein: ENSMUSP00000058524
Gene: ENSMUSG00000036834

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

silent
Transcript: ENSMUST00000084105

SMART Domains

Protein: ENSMUSP00000081122
Gene: ENSMUSG00000036834

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

noncoding transcript
Transcript: ENSMUST00000159374

Predicted Effect

unknown
Transcript: ENSMUST00000159676
AA Change: V1053A

SMART Domains

Protein: ENSMUSP00000124632
Gene: ENSMUSG00000036834
AA Change: V1053A

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

unknown
Transcript: ENSMUST00000160638
AA Change: V1053A

SMART Domains

Protein: ENSMUSP00000123921
Gene: ENSMUSG00000036834
AA Change: V1053A

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

silent
Transcript: ENSMUST00000176861

Predicted Effect

silent
Transcript: ENSMUST00000177143

SMART Domains

Protein: ENSMUSP00000135424
Gene: ENSMUSG00000036834

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

probably benign
Transcript: ENSMUST00000162269

SMART Domains

Protein: ENSMUSP00000124463
Gene: ENSMUSG00000036834

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 benign
Transcript: ENSMUST00000175947

SMART Domains

Protein: ENSMUSP00000135353
Gene: ENSMUSG00000036834

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

1x: 99.0%
3x: 98.2%
10x: 95.8%
20x: 89.1%

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: 36 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
6430550D23Rik	C	T	2: 155,845,840 (GRCm39)	V6I	probably benign	Het
Adam17	T	A	12: 21,379,119 (GRCm39)	K643N	probably damaging	Het
Adgrg4	A	T	X: 56,013,487 (GRCm39)	I2838F	probably damaging	Het
Aox1	G	A	1: 58,382,827 (GRCm39)	V1036I	probably benign	Het
Bag3	AAAGG	AAAGGAAGG	7: 128,147,493 (GRCm39)		probably null	Het
Cacnb3	T	C	15: 98,539,068 (GRCm39)	V167A	probably benign	Het
Clasrp	C	A	7: 19,319,165 (GRCm39)		probably benign	Het
E2f7	C	T	10: 110,620,578 (GRCm39)	T865M	possibly damaging	Het
Eef2	GCCC	GCCCC	10: 81,014,601 (GRCm39)		probably null	Het
Ephb3	T	A	16: 21,038,254 (GRCm39)	Y341N	probably damaging	Het
Frem1	A	T	4: 82,930,223 (GRCm39)	V241E	probably damaging	Het
Gpi1	A	G	7: 33,902,104 (GRCm39)	V500A	probably damaging	Het
Ilk	A	T	7: 105,390,181 (GRCm39)	M155L	probably benign	Het
Ipo8	T	C	6: 148,723,207 (GRCm39)	D70G	probably benign	Het
Macf1	T	C	4: 123,275,574 (GRCm39)	Q6283R	probably damaging	Het
Mfsd1	T	A	3: 67,504,046 (GRCm39)	M346K	possibly damaging	Het
Mideas	C	T	12: 84,203,245 (GRCm39)	G886S	probably benign	Het
Mroh2a	GCCC	GC	1: 88,159,979 (GRCm39)		probably null	Het
Myo7a	A	T	7: 97,730,294 (GRCm39)	F758Y	probably benign	Het
Nalcn	T	A	14: 123,834,029 (GRCm39)	S49C	probably null	Het
Ncan	G	A	8: 70,564,801 (GRCm39)	T271I	probably damaging	Het
Nr5a2	C	T	1: 136,868,236 (GRCm39)	A299T	probably benign	Het
Or10ag60	A	T	2: 87,438,220 (GRCm39)	I163L	probably benign	Het
Or4g16	A	T	2: 111,136,850 (GRCm39)	Q100L	probably damaging	Het
Or51q1c	G	T	7: 103,652,550 (GRCm39)	E23*	probably null	Het
Or9s23	A	G	1: 92,501,675 (GRCm39)	T261A	probably damaging	Het
Piwil4	T	C	9: 14,637,259 (GRCm39)	T352A	probably damaging	Het
Plekhg5	A	G	4: 152,192,749 (GRCm39)	T559A	probably damaging	Het
Rfx2	G	T	17: 57,110,526 (GRCm39)	D153E	probably benign	Het
Sh3bp4	G	T	1: 89,072,769 (GRCm39)	C539F	possibly damaging	Het
Slco1b2	A	T	6: 141,621,982 (GRCm39)	H479L	probably benign	Het
Spmip9	C	T	6: 70,892,690 (GRCm39)	S19N	possibly damaging	Het
Tmem150b	G	T	7: 4,727,339 (GRCm39)	F55L	probably damaging	Het
Vmn1r60	A	T	7: 5,548,148 (GRCm39)		probably null	Het
Vmn2r80	C	T	10: 79,004,227 (GRCm39)	L147F	possibly damaging	Het
Vps50	A	T	6: 3,600,212 (GRCm39)	K890N	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
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
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
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

Predicted Primers

Posted On

2017-05-11