Mutagenetix > Incidental Mutations

Incidental Mutation 'R4373:Pfn4'

326071

Institutional Source

Beutler Lab

Gene Symbol

Pfn4

Ensembl Gene

ENSMUSG00000020639

Gene Name

profilin family, member 4

Synonyms

MMRRC Submission

041675-MU

Accession Numbers

Is this an essential gene?

Non essential (E-score: 0.000) question?

Stock #

R4373 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

4769022-4778813 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 4770182 bp

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glutamic Acid at position 10 (D10E)

Ref Sequence

ENSEMBL: ENSMUSP00000136765 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000020967] [ENSMUST00000053458] [ENSMUST00000178879] [ENSMUST00000218199] [ENSMUST00000218575] [ENSMUST00000219438] [ENSMUST00000219503] [ENSMUST00000219898]

Predicted Effect

probably damaging
Transcript: ENSMUST00000020967
AA Change: D10E

PolyPhen 2 Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000020967
Gene: ENSMUSG00000020639
AA Change: D10E

Domain	Start	End	E-Value	Type
Pfam:Profilin	4	124	5.4e-29	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000053458

Predicted Effect

probably damaging
Transcript: ENSMUST00000178879
AA Change: D10E

PolyPhen 2 Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000136765
Gene: ENSMUSG00000020639
AA Change: D10E

Domain	Start	End	E-Value	Type
Pfam:Profilin	5	124	9.1e-22	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000218199

Predicted Effect

probably benign
Transcript: ENSMUST00000218575

Predicted Effect

probably damaging
Transcript: ENSMUST00000219438
AA Change: D10E

PolyPhen 2 Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)

Predicted Effect

probably damaging
Transcript: ENSMUST00000219503
AA Change: D10E

PolyPhen 2 Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)

Predicted Effect

probably benign
Transcript: ENSMUST00000219898

Meta Mutation Damage Score

0.6467

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.2%
20x: 94.9%

Validation Efficiency

98% (54/55)

Allele List at MGI

Other mutations in this stock

Total: 50 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
0610010F05Rik	A	T	11: 23,615,265		probably null	Het
3632451O06Rik	T	A	14: 49,770,436	T527S	probably damaging	Het
Adck5	A	G	15: 76,594,335		probably benign	Het
Akr1b3	A	C	6: 34,304,267		probably benign	Het
Asns	A	T	6: 7,677,978	S367T	probably damaging	Het
BC034090	T	C	1: 155,226,158	N120S	probably benign	Het
Bub1	A	T	2: 127,805,236		probably benign	Het
Csf1	T	A	3: 107,756,739	T38S	probably damaging	Het
Ctsz	T	C	2: 174,428,585	E268G	possibly damaging	Het
Dach1	G	A	14: 97,827,750	T685I	possibly damaging	Het
Dclre1a	A	G	19: 56,545,442	L240S	probably benign	Het
Ercc1	G	A	7: 19,347,132		probably benign	Het
Esam	C	T	9: 37,534,196	T71I	probably benign	Het
Espl1	A	G	15: 102,312,989	I944V	probably damaging	Het
Gde1	A	G	7: 118,698,558	L35P	possibly damaging	Het
Gm10382	A	G	5: 125,389,583		probably benign	Het
H2-M10.6	T	C	17: 36,813,066	Y141H	probably damaging	Het
Hk1	C	A	10: 62,315,540	K10N	probably damaging	Het
Lamc3	A	G	2: 31,898,232	K135E	probably damaging	Het
Lrtm2	A	G	6: 119,320,528	F184S	probably damaging	Het
March11	A	G	15: 26,309,446	E62G	probably damaging	Het
Mtcl1	T	A	17: 66,380,079	T611S	probably benign	Het
Myc	A	T	15: 61,989,664	H373L	probably damaging	Het
Myh6	T	A	14: 54,962,108	I249F	probably damaging	Het
Naaa	T	C	5: 92,278,143		probably benign	Het
Nfib	A	G	4: 82,323,658	V432A	probably damaging	Het
Nmt1	A	G	11: 103,043,200	K55R	probably damaging	Het
Olfr1228	T	C	2: 89,249,245	R150G	possibly damaging	Het
Opa3	C	T	7: 19,244,774	R55W	probably damaging	Het
Pld5	T	A	1: 176,140,017	I91F	probably damaging	Het
Plec	A	C	15: 76,183,117	S1350A	probably damaging	Het
Polq	G	T	16: 37,013,181	V79F	probably damaging	Het
Ppp1r16b	T	C	2: 158,761,765	Y537H	probably damaging	Het
Prdm8	T	C	5: 98,186,508	S645P	probably damaging	Het
Rgs1	T	C	1: 144,247,906	T94A	probably benign	Het
Rpl11	G	A	4: 136,051,143		probably benign	Het
Scamp3	G	A	3: 89,181,927		probably null	Het
Sgsm1	TTTTATATT	TTT	5: 113,258,123		probably benign	Het
Sirpb1b	A	T	3: 15,548,761	I87K	probably damaging	Het
Slc14a2	G	A	18: 78,207,068	R62C	probably damaging	Het
Stat4	T	C	1: 52,071,941		probably null	Het
Tex9	A	T	9: 72,480,595		probably null	Het
Tsku	T	C	7: 98,352,831	T98A	probably benign	Het
Ttc23l	CT	CTTGGATT	15: 10,537,562		probably benign	Het
Ttc23l	G	A	15: 10,537,566	S206L	probably benign	Het
Vmn2r116	A	C	17: 23,401,421	I710L	probably benign	Het
Vmn2r16	A	T	5: 109,363,801	I625F	probably damaging	Het
Xpo4	G	A	14: 57,591,022	Q794*	probably null	Het
Zfp112	T	A	7: 24,125,048	I147N	probably damaging	Het
Zmiz1	T	C	14: 25,636,010	S140P	probably damaging	Het

Other mutations in Pfn4

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01129:Pfn4	APN	12	4775505	missense	probably damaging	1.00
IGL01522:Pfn4	APN	12	4770240	missense	probably benign	0.01
IGL01726:Pfn4	APN	12	4774446	missense	probably benign	0.00
IGL02896:Pfn4	APN	12	4775451	missense	probably benign	0.02
R2082:Pfn4	UTSW	12	4775439	splice site	probably null
R2201:Pfn4	UTSW	12	4774382	splice site	probably null
R4376:Pfn4	UTSW	12	4770182	missense	probably damaging	0.99
R4377:Pfn4	UTSW	12	4770182	missense	probably damaging	0.99
R4692:Pfn4	UTSW	12	4774486	missense	probably damaging	1.00
R6762:Pfn4	UTSW	12	4775487	missense	probably damaging	1.00
R7711:Pfn4	UTSW	12	4774414	missense	possibly damaging	0.77
R8125:Pfn4	UTSW	12	4775487	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- TCCCCTCTGAGTACTGGTGAAC -3'
(R):5'- TCTGACATTGTTGAAACATGTTCGG -3'

Sequencing Primer
(F):5'- TGAACCCTGGATGATGGACCAC -3'
(R):5'- CGGATGTTACATAGCTTACAACAC -3'

Posted On

2015-07-06