Mutagenetix > Incidental Mutation

Incidental Mutation 'R0981:Pfn1'

97191

Institutional Source

Beutler Lab

Gene Symbol

Pfn1

Ensembl Gene

ENSMUSG00000018293

Gene Name

profilin 1

Synonyms

Pfn, actin binding protein

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R0981 (G1)

Quality Score

223

Status

Not validated

Chromosome

Chromosomal Location

70542676-70545470 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 70542964 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Cysteine at position 137 (R137C)

Ref Sequence

ENSEMBL: ENSMUSP00000018437 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000018437] [ENSMUST00000037534] [ENSMUST00000108549] [ENSMUST00000139638] [ENSMUST00000141695] [ENSMUST00000178254] [ENSMUST00000152160]

AlphaFold

P62962

Predicted Effect

probably benign
Transcript: ENSMUST00000018437
AA Change: R137C

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000018437
Gene: ENSMUSG00000018293
AA Change: R137C

Domain	Start	End	E-Value	Type
PROF	2	140	4.46e-58	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000037534

SMART Domains

Protein: ENSMUSP00000036472
Gene: ENSMUSG00000040746

Domain	Start	End	E-Value	Type
signal peptide	1	24	N/A	INTRINSIC
Pfam:PA	53	150	1.4e-14	PFAM
transmembrane domain	172	194	N/A	INTRINSIC
RING	230	271	2.65e-9	SMART
low complexity region	278	303	N/A	INTRINSIC
low complexity region	332	343	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000108549

SMART Domains

Protein: ENSMUSP00000104189
Gene: ENSMUSG00000018293

Domain	Start	End	E-Value	Type
Pfam:Profilin	3	109	7e-24	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000131071

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000131642

Predicted Effect

probably benign
Transcript: ENSMUST00000139638

SMART Domains

Protein: ENSMUSP00000114685
Gene: ENSMUSG00000014606

Domain	Start	End	E-Value	Type
Pfam:Mito_carr	1	80	7.4e-17	PFAM
Pfam:Mito_carr	83	181	1.1e-21	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000141237

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000143313

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000177669

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000152458

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000141537

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000151034

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000152276

Predicted Effect

probably benign
Transcript: ENSMUST00000141695

SMART Domains

Protein: ENSMUSP00000121511
Gene: ENSMUSG00000040746

Domain	Start	End	E-Value	Type
signal peptide	1	24	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000178254

SMART Domains

Protein: ENSMUSP00000136219
Gene: ENSMUSG00000018293

Domain	Start	End	E-Value	Type
Pfam:Profilin	3	54	1.4e-13	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000152160

SMART Domains

Protein: ENSMUSP00000115057
Gene: ENSMUSG00000040746

Domain	Start	End	E-Value	Type
signal peptide	1	24	N/A	INTRINSIC

Coding Region Coverage

1x: 99.5%
3x: 98.4%
10x: 95.4%
20x: 89.6%

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the profilin family of small actin-binding proteins. The encoded protein plays an important role in actin dynamics by regulating actin polymerization in response to extracellular signals. Deletion of this gene is associated with Miller-Dieker syndrome, and the encoded protein may also play a role in Huntington disease. Multiple pseudogenes of this gene are located on chromosome 1. [provided by RefSeq, Jul 2012]
PHENOTYPE: Homozygous mice die at early embryonic stages. Some heterozygous mice die either in early embryonic stages or in the perinatal period; animals that survive reach adulthood and are phenotypically normal. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 42 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aars2	T	A	17: 45,831,257 (GRCm39)	C942S	probably damaging	Het
Alpk1	T	C	3: 127,473,051 (GRCm39)	N984S	possibly damaging	Het
Ankrd55	T	C	13: 112,459,610 (GRCm39)	V68A	possibly damaging	Het
Asap2	T	C	12: 21,315,961 (GRCm39)	S960P	probably damaging	Het
Atp2b1	T	A	10: 98,851,491 (GRCm39)	N66K	probably damaging	Het
Cckar	C	T	5: 53,863,632 (GRCm39)	G39R	probably damaging	Het
Cimap1a	A	G	7: 140,428,208 (GRCm39)	M7V	probably benign	Het
Col11a1	G	A	3: 113,932,414 (GRCm39)	R113H	unknown	Het
Cpb1	C	A	3: 20,329,654 (GRCm39)	R24L	probably benign	Het
Dlg5	T	G	14: 24,204,699 (GRCm39)	R1258S	probably damaging	Het
Fanci	A	G	7: 79,054,914 (GRCm39)	Q148R	probably benign	Het
Fcgbp	T	A	7: 27,784,535 (GRCm39)	Y198*	probably null	Het
Gapt	G	C	13: 110,490,273 (GRCm39)	T130R	probably damaging	Het
Garin5b	T	A	7: 4,760,588 (GRCm39)		probably null	Het
Glis1	A	G	4: 107,472,239 (GRCm39)	E272G	probably damaging	Het
Gm13741	T	C	2: 87,486,578 (GRCm39)	N229S	probably benign	Het
Gsdmc4	T	A	15: 63,763,922 (GRCm39)	I392F	probably damaging	Het
H2-M2	T	C	17: 37,793,521 (GRCm39)	T162A	probably benign	Het
Hk2	G	A	6: 82,720,949 (GRCm39)	R190W	probably damaging	Het
Irf1	T	C	11: 53,664,548 (GRCm39)	*52R	probably null	Het
Lman2l	T	A	1: 36,484,314 (GRCm39)	M1L	unknown	Het
Mgat1	C	T	11: 49,151,882 (GRCm39)	R122C	probably damaging	Het
Mtrf1	T	C	14: 79,639,030 (GRCm39)	L54S	probably benign	Het
Myo5c	A	T	9: 75,178,873 (GRCm39)	L676F	probably damaging	Het
Ofcc1	A	G	13: 40,226,174 (GRCm39)	I786T	probably damaging	Het
Or5p64	AGGT	A	7: 107,855,228 (GRCm39)		probably benign	Het
Or5p64	GGTAG	GG	7: 107,855,229 (GRCm39)		probably benign	Het
Pgbd5	G	A	8: 125,111,032 (GRCm39)	R129*	probably null	Het
Pibf1	T	C	14: 99,388,179 (GRCm39)		probably null	Het
Pkd2l1	A	G	19: 44,142,861 (GRCm39)		probably null	Het
Plin5	C	A	17: 56,421,020 (GRCm39)	R215L	probably damaging	Het
Prrc2c	C	T	1: 162,533,550 (GRCm39)		probably benign	Het
Rnasel	T	G	1: 153,635,345 (GRCm39)	C608G	probably benign	Het
Slc28a2	T	A	2: 122,281,465 (GRCm39)	V218D	probably damaging	Het
Snx1	T	C	9: 66,016,841 (GRCm39)	I29V	probably benign	Het
Tenm3	A	G	8: 48,752,000 (GRCm39)	W939R	probably damaging	Het
Tmem237	C	A	1: 59,157,164 (GRCm39)	R15L	probably damaging	Het
Tmx3	T	C	18: 90,555,324 (GRCm39)	V347A	probably benign	Het
Vmn1r191	T	C	13: 22,363,389 (GRCm39)	T122A	probably benign	Het
Wdfy4	G	T	14: 32,869,049 (GRCm39)	N326K	probably benign	Het
Zfp408	A	G	2: 91,475,528 (GRCm39)	L642P	probably benign	Het
Zfp808	C	A	13: 62,319,487 (GRCm39)	H239N	possibly damaging	Het

Other mutations in Pfn1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02191:Pfn1	APN	11	70,545,209 (GRCm39)	missense	probably damaging	0.98
Valenta	UTSW	11	70,545,297 (GRCm39)	missense	probably damaging	0.99
R0666:Pfn1	UTSW	11	70,545,192 (GRCm39)	missense	probably benign	0.00
R7252:Pfn1	UTSW	11	70,545,297 (GRCm39)	missense	probably damaging	0.99

Predicted Primers

PCR Primer
(F):5'- TGTCTCCCAACTAATGCCAAGTGC -3'
(R):5'- GACTGACAGCCTGCCTGTGTATAAG -3'

Sequencing Primer
(F):5'- aagaccaaaaaacaaaaaaTGAAACC -3'
(R):5'- GCTGAGGTTAGGTTACAACCC -3'

Posted On

2014-01-05