Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02191:Pfn1'

283873

Institutional Source

Australian Phenomics Network (link to record)

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 #

IGL02191

Quality Score

Status

Chromosome

Chromosomal Location

70542676-70545470 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 70545209 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Alanine to Valine at position 33 (A33V)

Ref Sequence

ENSEMBL: ENSMUSP00000104189 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000018437] [ENSMUST00000037534] [ENSMUST00000072841] [ENSMUST00000108548] [ENSMUST00000108549] [ENSMUST00000126241] [ENSMUST00000178254] [ENSMUST00000157027] [ENSMUST00000152160] [ENSMUST00000134087] [ENSMUST00000141695] [ENSMUST00000170716]

AlphaFold

P62962

Predicted Effect

possibly damaging
Transcript: ENSMUST00000018437
AA Change: A33V

PolyPhen 2 Score 0.914 (Sensitivity: 0.81; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000018437
Gene: ENSMUSG00000018293
AA Change: A33V

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: ENSMUST00000072841

SMART Domains

Protein: ENSMUSP00000072620
Gene: ENSMUSG00000060600

Domain	Start	End	E-Value	Type
Enolase_N	3	134	6.26e-91	SMART
Enolase_C	142	431	8.8e-200	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000108548

SMART Domains

Protein: ENSMUSP00000104188
Gene: ENSMUSG00000060600

Domain	Start	End	E-Value	Type
Enolase_N	3	134	6.26e-91	SMART
Enolase_C	142	431	8.8e-200	SMART

Predicted Effect

probably damaging
Transcript: ENSMUST00000108549
AA Change: A33V

PolyPhen 2 Score 0.980 (Sensitivity: 0.75; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000104189
Gene: ENSMUSG00000018293
AA Change: A33V

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

Predicted Effect

probably benign
Transcript: ENSMUST00000126241

SMART Domains

Protein: ENSMUSP00000123688
Gene: ENSMUSG00000060600

Domain	Start	End	E-Value	Type
Enolase_N	3	70	7.82e-19	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000131642

Predicted Effect

possibly damaging
Transcript: ENSMUST00000178254
AA Change: A33V

PolyPhen 2 Score 0.627 (Sensitivity: 0.87; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000136219
Gene: ENSMUSG00000018293
AA Change: A33V

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000177669

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000152458

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000151034

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000179738

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000141237

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000143313

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000152276

Predicted Effect

probably benign
Transcript: ENSMUST00000157027

SMART Domains

Protein: ENSMUSP00000115726
Gene: ENSMUSG00000060600

Domain	Start	End	E-Value	Type
Enolase_N	3	134	6.26e-91	SMART
Pfam:Enolase_C	142	196	1e-29	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

Predicted Effect

probably benign
Transcript: ENSMUST00000134087

SMART Domains

Protein: ENSMUSP00000121640
Gene: ENSMUSG00000060600

Domain	Start	End	E-Value	Type
Enolase_N	3	78	3.53e-26	SMART

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: ENSMUST00000170716

SMART Domains

Protein: ENSMUSP00000128714
Gene: ENSMUSG00000060600

Domain	Start	End	E-Value	Type
Enolase_N	3	134	6.26e-91	SMART
Enolase_C	142	431	8.8e-200	SMART

Coding Region Coverage

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: 30 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Actn1	T	C	12: 80,220,883 (GRCm39)	I642V	probably benign	Het
Adam5	G	A	8: 25,302,439 (GRCm39)	R185*	probably null	Het
C2	T	C	17: 35,085,539 (GRCm39)	I122V	probably damaging	Het
Camsap1	A	G	2: 25,819,892 (GRCm39)	I1531T	probably damaging	Het
Celsr1	T	C	15: 85,863,205 (GRCm39)	T1276A	possibly damaging	Het
Cnot7	A	T	8: 40,963,068 (GRCm39)	N35K	probably benign	Het
Cyp2a12	A	G	7: 26,736,036 (GRCm39)	I482V	probably benign	Het
Cyp3a57	A	G	5: 145,302,495 (GRCm39)	E97G	probably damaging	Het
Cyp51	C	A	5: 4,150,147 (GRCm39)	R192I	probably benign	Het
Ddx59	T	C	1: 136,344,896 (GRCm39)	L189P	probably damaging	Het
Dnah6	A	G	6: 72,994,780 (GRCm39)	I4127T	probably benign	Het
Dock3	C	T	9: 106,815,340 (GRCm39)	V1217I	probably benign	Het
Ergic2	T	C	6: 148,106,319 (GRCm39)	D57G	probably null	Het
Flvcr2	A	T	12: 85,832,966 (GRCm39)	K329*	probably null	Het
Foxp1	T	C	6: 98,922,561 (GRCm39)	S327G	probably damaging	Het
Gen1	A	C	12: 11,292,297 (GRCm39)	H562Q	probably benign	Het
Gjc2	A	G	11: 59,068,386 (GRCm39)	V32A	probably damaging	Het
Grk4	C	T	5: 34,912,533 (GRCm39)	H574Y	probably benign	Het
Kif15	T	A	9: 122,804,744 (GRCm39)	C93S	probably damaging	Het
Lrtm1	A	C	14: 28,743,906 (GRCm39)	I125L	probably benign	Het
Mrgprb8	A	G	7: 48,038,527 (GRCm39)	Y66C	probably damaging	Het
Scnn1b	A	C	7: 121,516,736 (GRCm39)	K492Q	probably damaging	Het
Slc22a29	G	A	19: 8,196,045 (GRCm39)		probably benign	Het
Spocd1	A	G	4: 129,847,380 (GRCm39)	D523G	probably damaging	Het
Tmem144	A	T	3: 79,734,159 (GRCm39)	D181E	possibly damaging	Het
Tmem220	G	A	11: 66,921,933 (GRCm39)	C101Y	probably damaging	Het
Tmpo	A	G	10: 90,997,741 (GRCm39)	V682A	probably benign	Het
Wdr93	A	G	7: 79,398,968 (GRCm39)	K34R	probably damaging	Het
Zdhhc16	C	A	19: 41,926,130 (GRCm39)	C8*	probably null	Het
Zfp318	C	T	17: 46,707,736 (GRCm39)	R265*	probably null	Het

Other mutations in Pfn1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
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
R0981:Pfn1	UTSW	11	70,542,964 (GRCm39)	missense	probably benign
R7252:Pfn1	UTSW	11	70,545,297 (GRCm39)	missense	probably damaging	0.99

Posted On

2015-04-16