Mutagenetix > Incidental Mutation

Incidental Mutation 'R6279:Pphln1-ps1'

507855

Institutional Source

Beutler Lab

Gene Symbol

Pphln1-ps1

Ensembl Gene

ENSMUSG00000079737

Gene Name

periphilin 1, pseudogene 1

Synonyms

3110001I22Rik

MMRRC Submission

044449-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R6279 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

13489814-13496269 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 13495134 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Proline at position 78 (S78P)

Ref Sequence

ENSEMBL: ENSMUSP00000041742 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000023365] [ENSMUST00000035426] [ENSMUST00000069281] [ENSMUST00000127973]

AlphaFold

Q9CZ70

Predicted Effect

probably benign
Transcript: ENSMUST00000023365

SMART Domains

Protein: ENSMUSP00000023365
Gene: ENSMUSG00000022684

Domain	Start	End	E-Value	Type
RING	34	73	2.71e-6	SMART
transmembrane domain	142	164	N/A	INTRINSIC
SAM	179	249	1.82e-6	SMART
transmembrane domain	361	380	N/A	INTRINSIC
transmembrane domain	407	429	N/A	INTRINSIC

Predicted Effect

probably damaging
Transcript: ENSMUST00000035426
AA Change: S78P

PolyPhen 2 Score 0.988 (Sensitivity: 0.73; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000041742
Gene: ENSMUSG00000079737
AA Change: S78P

Domain	Start	End	E-Value	Type
low complexity region	68	78	N/A	INTRINSIC
low complexity region	97	114	N/A	INTRINSIC
low complexity region	162	171	N/A	INTRINSIC
Pfam:Lge1	226	301	8e-17	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000069281

SMART Domains

Protein: ENSMUSP00000063371
Gene: ENSMUSG00000022684

Domain	Start	End	E-Value	Type
RING	34	73	2.71e-6	SMART
low complexity region	86	97	N/A	INTRINSIC
PDB:1V85\|A	98	123	2e-8	PDB
Blast:SAM	98	124	2e-8	BLAST
transmembrane domain	236	255	N/A	INTRINSIC
transmembrane domain	282	304	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000127973

SMART Domains

Protein: ENSMUSP00000115585
Gene: ENSMUSG00000022684

Domain	Start	End	E-Value	Type
RING	34	73	2.71e-6	SMART
transmembrane domain	142	161	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000132349

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000223666

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000225585

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000230905

Meta Mutation Damage Score

0.3875

Coding Region Coverage

1x: 99.9%
3x: 99.6%
10x: 98.1%
20x: 94.5%

Validation Efficiency

97% (58/60)

Allele List at MGI

Other mutations in this stock

Total: 59 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Ap1s3	T	C	1: 79,602,840 (GRCm39)	K56E	probably damaging	Het
Apob	C	T	12: 8,057,769 (GRCm39)	R2084*	probably null	Het
Arid1b	C	A	17: 5,392,274 (GRCm39)	L1935M	probably damaging	Het
Bag6	T	C	17: 35,357,577 (GRCm39)	V122A	probably damaging	Het
Bmal2	A	G	6: 146,723,444 (GRCm39)	Y258C	probably damaging	Het
Cacna1e	T	A	1: 154,301,678 (GRCm39)	T1685S	probably benign	Het
Cd163	T	A	6: 124,294,950 (GRCm39)	C671*	probably null	Het
Cul3	A	G	1: 80,264,669 (GRCm39)	V211A	probably damaging	Het
Cyp2d22	C	A	15: 82,258,169 (GRCm39)	K150N	probably damaging	Het
Dnah6	A	T	6: 73,042,798 (GRCm39)	I3208N	probably damaging	Het
Dnah7b	T	C	1: 46,365,046 (GRCm39)	F3609S	probably damaging	Het
Endod1	T	C	9: 14,268,166 (GRCm39)	T440A	probably benign	Het
Exph5	A	G	9: 53,285,246 (GRCm39)	T776A	possibly damaging	Het
Faap24	A	C	7: 35,095,709 (GRCm39)	V12G	possibly damaging	Het
Gabrg2	T	C	11: 41,891,350 (GRCm39)		probably null	Het
Ggta1	A	G	2: 35,298,006 (GRCm39)	Y148H	probably damaging	Het
Hspe1	T	A	1: 55,129,860 (GRCm39)		probably null	Het
Il12a	A	T	3: 68,605,312 (GRCm39)	I193F	probably damaging	Het
Il2rb	T	C	15: 78,365,738 (GRCm39)	N520D	possibly damaging	Het
Kat6a	A	G	8: 23,429,628 (GRCm39)	Q1661R	unknown	Het
Klhl18	T	A	9: 110,265,130 (GRCm39)	N362I	probably benign	Het
Lrba	A	G	3: 86,256,171 (GRCm39)	D1171G	probably benign	Het
Mef2b	C	T	8: 70,619,769 (GRCm39)	T285I	possibly damaging	Het
Mmrn2	T	C	14: 34,119,614 (GRCm39)	S198P	probably benign	Het
Msh6	T	C	17: 88,287,677 (GRCm39)	W106R	probably damaging	Het
Nek5	T	A	8: 22,597,737 (GRCm39)	M281L	probably benign	Het
Or10w3	A	G	19: 13,704,029 (GRCm39)	I135V	probably benign	Het
Or2y15	T	A	11: 49,351,039 (GRCm39)	C178S	probably damaging	Het
Or4c105	A	T	2: 88,647,719 (GRCm39)	D68V	probably damaging	Het
Or52e19	A	T	7: 102,959,636 (GRCm39)	H236L	probably benign	Het
Or52e7	G	A	7: 104,684,878 (GRCm39)	V158M	probably benign	Het
Pcdhgb5	T	A	18: 37,865,752 (GRCm39)	F516I	probably damaging	Het
Pde10a	T	C	17: 9,197,789 (GRCm39)	I1026T	probably damaging	Het
Pde4dip	A	C	3: 97,606,496 (GRCm39)	L2126R	probably damaging	Het
Pds5b	T	A	5: 150,646,713 (GRCm39)	N167K	possibly damaging	Het
Pkmyt1	C	T	17: 23,951,476 (GRCm39)	P10L	probably benign	Het
Prr5l	A	T	2: 101,547,765 (GRCm39)	Y253*	probably null	Het
Rdh9	A	G	10: 127,612,627 (GRCm39)	T92A	probably benign	Het
Reln	A	G	5: 22,101,839 (GRCm39)	Y3364H	probably damaging	Het
Rufy4	T	A	1: 74,172,383 (GRCm39)	S369T	probably benign	Het
Ryr1	A	T	7: 28,786,853 (GRCm39)	M1587K	possibly damaging	Het
Ryr2	T	A	13: 11,695,885 (GRCm39)	H2994L	probably damaging	Het
Safb2	T	C	17: 56,870,226 (GRCm39)	H950R	possibly damaging	Het
Sez6	T	C	11: 77,867,367 (GRCm39)	V788A	possibly damaging	Het
Sfrp4	G	A	13: 19,808,023 (GRCm39)	A141T	probably damaging	Het
Sh3d19	A	T	3: 86,011,409 (GRCm39)	I332F	possibly damaging	Het
Skor1	A	T	9: 63,052,596 (GRCm39)	W458R	probably damaging	Het
Slc13a2	CGTTATCTGT	CGT	11: 78,294,306 (GRCm39)		probably benign	Het
Slc19a2	C	T	1: 164,084,344 (GRCm39)	T78M	probably damaging	Het
Slc8a3	T	A	12: 81,361,752 (GRCm39)	I356F	probably damaging	Het
Slk	A	G	19: 47,630,443 (GRCm39)	T1205A	probably damaging	Het
Tcte1	T	C	17: 45,844,215 (GRCm39)	S64P	possibly damaging	Het
Tnpo1	G	A	13: 99,027,216 (GRCm39)	P25L	possibly damaging	Het
Top3a	T	C	11: 60,640,234 (GRCm39)	D488G	probably benign	Het
Tshz1	A	T	18: 84,033,436 (GRCm39)	V324D	probably damaging	Het
Ttc21a	T	C	9: 119,790,905 (GRCm39)	S884P	possibly damaging	Het
Usp17lb	A	G	7: 104,489,898 (GRCm39)	L342P	probably damaging	Het
Vwa3a	A	G	7: 120,381,623 (GRCm39)	N3S	probably damaging	Het
Zfp672	A	T	11: 58,208,094 (GRCm39)	C76S	probably damaging	Het

Other mutations in Pphln1-ps1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
R0828:Pphln1-ps1	UTSW	16	13,495,669 (GRCm39)	missense	probably damaging	1.00
R1961:Pphln1-ps1	UTSW	16	13,495,592 (GRCm39)	missense	probably benign	0.04
R4630:Pphln1-ps1	UTSW	16	13,495,278 (GRCm39)	missense	probably damaging	0.98
R5288:Pphln1-ps1	UTSW	16	13,495,622 (GRCm39)	missense	probably benign	0.39
R5475:Pphln1-ps1	UTSW	16	13,494,977 (GRCm39)	missense	possibly damaging	0.53
R6072:Pphln1-ps1	UTSW	16	13,495,353 (GRCm39)	missense	probably damaging	0.99
R6515:Pphln1-ps1	UTSW	16	13,494,820 (GRCm39)	intron	probably benign
R7138:Pphln1-ps1	UTSW	16	13,495,589 (GRCm39)	missense	probably benign
R7731:Pphln1-ps1	UTSW	16	13,495,623 (GRCm39)	missense	probably damaging	1.00
R8049:Pphln1-ps1	UTSW	16	13,495,623 (GRCm39)	missense	probably damaging	1.00
R9605:Pphln1-ps1	UTSW	16	13,495,087 (GRCm39)	missense	probably benign

Predicted Primers

PCR Primer
(F):5'- GACAAGATGTGGCCTAACAGATC -3'
(R):5'- TTTCAAAGACTGGCCAGCCC -3'

Sequencing Primer
(F):5'- CAAGATGTGGCCTAACAGATCATATG -3'
(R):5'- CTTCACTGTGCCGTTTGTAG -3'

Posted On

2018-03-15