Mutagenetix > Incidental Mutation

Incidental Mutation 'R0828:Pphln1-ps1'

78406

Institutional Source

Beutler Lab

Gene Symbol

Pphln1-ps1

Ensembl Gene

ENSMUSG00000079737

Gene Name

periphilin 1, pseudogene 1

Synonyms

3110001I22Rik

MMRRC Submission

039008-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R0828 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

13489814-13496269 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 13495669 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Cysteine at position 256 (Y256C)

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: Y256C

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000041742
Gene: ENSMUSG00000079737
AA Change: Y256C

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

0.9579

Coding Region Coverage

1x: 99.4%
3x: 98.7%
10x: 97.1%
20x: 93.8%

Validation Efficiency

98% (59/60)

Allele List at MGI

Other mutations in this stock

Total: 59 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
5730522E02Rik	C	T	11: 25,602,020 (GRCm39)	C70Y	unknown	Het
Abi3bp	C	T	16: 56,498,193 (GRCm39)	T929I	probably damaging	Het
Adap2	C	A	11: 80,056,490 (GRCm39)		probably benign	Het
Adgrg5	A	G	8: 95,668,413 (GRCm39)		probably null	Het
Afdn	C	A	17: 14,124,260 (GRCm39)	N1803K	probably damaging	Het
Alox12b	T	C	11: 69,057,132 (GRCm39)	L451P	possibly damaging	Het
Ankrd26	T	C	6: 118,510,434 (GRCm39)		probably benign	Het
Bcr	A	T	10: 74,993,039 (GRCm39)		probably benign	Het
Cacna1c	T	C	6: 118,734,347 (GRCm39)	N300D	probably benign	Het
Camsap1	G	T	2: 25,829,097 (GRCm39)	Q876K	probably damaging	Het
Cdh10	A	G	15: 18,986,837 (GRCm39)	D356G	possibly damaging	Het
Cdipt	T	A	7: 126,576,092 (GRCm39)	Y16N	probably damaging	Het
Cebpz	T	C	17: 79,233,411 (GRCm39)	E772G	probably benign	Het
Cep350	A	G	1: 155,828,992 (GRCm39)	I304T	probably benign	Het
Chpt1	C	A	10: 88,312,277 (GRCm39)	G9V	probably damaging	Het
Col6a5	T	A	9: 105,739,263 (GRCm39)		probably null	Het
Dock7	G	T	4: 98,903,982 (GRCm39)	P688T	probably damaging	Het
Ephb3	T	A	16: 21,037,784 (GRCm39)		probably benign	Het
Fcgr2b	T	C	1: 170,788,599 (GRCm39)	Y336C	probably damaging	Het
Flg2	A	T	3: 93,110,639 (GRCm39)	H889L	unknown	Het
Gucy2c	C	T	6: 136,686,746 (GRCm39)	V806M	probably damaging	Het
Hmgxb3	T	A	18: 61,304,426 (GRCm39)	I55F	probably damaging	Het
Igsf9b	T	A	9: 27,230,901 (GRCm39)	Y301*	probably null	Het
Il12rb2	C	T	6: 67,333,691 (GRCm39)	R196H	probably benign	Het
Itgam	T	C	7: 127,715,677 (GRCm39)		probably null	Het
Klhl25	T	C	7: 75,515,943 (GRCm39)	V283A	probably damaging	Het
Klhl5	T	C	5: 65,320,135 (GRCm39)	L423P	probably damaging	Het
Krt6a	T	C	15: 101,602,271 (GRCm39)	N138S	probably damaging	Het
Lrba	A	T	3: 86,515,677 (GRCm39)		probably null	Het
Map4k5	T	C	12: 69,852,100 (GRCm39)	T828A	probably damaging	Het
Marchf8	T	A	6: 116,382,639 (GRCm39)	M434K	probably benign	Het
Mink1	C	T	11: 70,500,971 (GRCm39)	Q743*	probably null	Het
Mrgpra3	T	C	7: 47,239,884 (GRCm39)	N14S	probably benign	Het
Mroh7	T	C	4: 106,557,073 (GRCm39)	S808G	probably damaging	Het
Msi1	T	C	5: 115,568,953 (GRCm39)		probably null	Het
Nrap	A	G	19: 56,333,990 (GRCm39)	Y874H	probably damaging	Het
Nup205	T	C	6: 35,171,501 (GRCm39)	F455L	probably benign	Het
Or2t1	G	T	14: 14,328,800 (GRCm38)	V230L	probably benign	Het
Piwil2	A	G	14: 70,613,466 (GRCm39)	V894A	probably damaging	Het
Polr1c	A	G	17: 46,555,990 (GRCm39)	S173P	probably damaging	Het
Prep	C	T	10: 45,031,621 (GRCm39)	A564V	probably benign	Het
Rab3gap1	T	C	1: 127,865,922 (GRCm39)		probably benign	Het
Rcc1	G	C	4: 132,063,136 (GRCm39)		probably benign	Het
Scn11a	T	A	9: 119,584,073 (GRCm39)	D1514V	probably benign	Het
Setdb1	G	A	3: 95,246,171 (GRCm39)	P584S	probably damaging	Het
Slc12a7	A	G	13: 73,936,771 (GRCm39)	I144V	probably benign	Het
Slc45a4	T	C	15: 73,458,665 (GRCm39)	M295V	probably benign	Het
Slco1a1	T	A	6: 141,867,565 (GRCm39)	D456V	possibly damaging	Het
Sspo	G	T	6: 48,475,668 (GRCm39)	C4928F	probably damaging	Het
St6galnac1	T	A	11: 116,659,823 (GRCm39)	K163N	probably benign	Het
Tcp11l1	A	T	2: 104,530,181 (GRCm39)		probably benign	Het
Tns1	T	A	1: 73,958,825 (GRCm39)	I1715F	probably damaging	Het
Trpa1	C	T	1: 14,946,108 (GRCm39)	V1008M	probably damaging	Het
Ttc28	A	G	5: 111,371,312 (GRCm39)	E587G	probably damaging	Het
Ubr4	T	C	4: 139,177,864 (GRCm39)		probably benign	Het
Ugcg	C	T	4: 59,207,798 (GRCm39)	P46S	probably benign	Het
Usp8	G	A	2: 126,584,034 (GRCm39)		probably benign	Het
Zfc3h1	G	T	10: 115,237,612 (GRCm39)	A464S	possibly damaging	Het
Zfp106	T	C	2: 120,366,084 (GRCm39)	I108V	probably benign	Het

Other mutations in Pphln1-ps1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
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
R6279:Pphln1-ps1	UTSW	16	13,495,134 (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'- AGTTCTTCAGCAGTTCCTTCGTCAG -3'
(R):5'- AGAGCACCAGTCCTTAGGAAGCAG -3'

Sequencing Primer
(F):5'- TCCTAAAGCTGCAAGCAGG -3'
(R):5'- TCCTTAGGAAGCAGCAGCATC -3'

Posted On

2013-10-16