Mutagenetix > Incidental Mutation

Incidental Mutation 'R2201:Pfn4'

238679

Institutional Source

Beutler Lab

Gene Symbol

Pfn4

Ensembl Gene

ENSMUSG00000020639

Gene Name

profilin family, member 4

Synonyms

2900024P18Rik

MMRRC Submission

040203-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R2201 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

4819022-4828813 bp(+) (GRCm39)

Type of Mutation

splice site

DNA Base Change (assembly)

A to G at 4824382 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000151411 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000020967] [ENSMUST00000178879] [ENSMUST00000178879] [ENSMUST00000219438] [ENSMUST00000219503]

AlphaFold

Q9D6I3

Predicted Effect

probably null
Transcript: ENSMUST00000020967

SMART Domains

Protein: ENSMUSP00000020967
Gene: ENSMUSG00000020639

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

Predicted Effect

probably null
Transcript: ENSMUST00000178879

SMART Domains

Protein: ENSMUSP00000136765
Gene: ENSMUSG00000020639

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

Predicted Effect

probably null
Transcript: ENSMUST00000178879

SMART Domains

Protein: ENSMUSP00000136765
Gene: ENSMUSG00000020639

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

Predicted Effect

probably null
Transcript: ENSMUST00000219438

Predicted Effect

probably null
Transcript: ENSMUST00000219503

Meta Mutation Damage Score

0.9755

Coding Region Coverage

1x: 99.2%
3x: 98.7%
10x: 97.5%
20x: 95.9%

Validation Efficiency

98% (59/60)

Allele List at MGI

Other mutations in this stock

Total: 61 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A2ml1	A	T	6: 128,524,268 (GRCm39)	N1121K	probably null	Het
Actr10	A	G	12: 71,006,795 (GRCm39)	N351D	probably damaging	Het
Adcy7	G	A	8: 89,044,606 (GRCm39)	A500T	probably damaging	Het
Ankrd35	T	C	3: 96,586,564 (GRCm39)	I80T	possibly damaging	Het
Arap2	G	A	5: 62,864,028 (GRCm39)	T532I	probably damaging	Het
Bag3	AAAGG	AAAGGAAGG	7: 128,147,493 (GRCm39)		probably null	Het
Cc2d2a	T	C	5: 43,841,375 (GRCm39)		probably benign	Het
Cep85l	A	T	10: 53,224,827 (GRCm39)	M254K	probably benign	Het
Clic4	A	G	4: 134,950,850 (GRCm39)	S114P	probably damaging	Het
Ctsj	T	C	13: 61,150,363 (GRCm39)	Y213C	probably damaging	Het
Ddx28	A	G	8: 106,737,206 (GRCm39)	V284A	probably damaging	Het
Dnase2b	T	A	3: 146,290,443 (GRCm39)	D176V	probably damaging	Het
Dsg2	T	A	18: 20,729,111 (GRCm39)	N663K	probably damaging	Het
Dst	T	A	1: 34,235,002 (GRCm39)	S3694T	possibly damaging	Het
Emilin1	T	C	5: 31,073,036 (GRCm39)	S158P	probably benign	Het
Eng	T	C	2: 32,563,752 (GRCm39)		probably benign	Het
Entrep2	T	A	7: 64,409,141 (GRCm39)	M418L	probably benign	Het
Fdxr	C	A	11: 115,161,208 (GRCm39)	V223L	probably benign	Het
Fhip1b	T	C	7: 105,037,398 (GRCm39)	N395S	probably damaging	Het
Frem2	T	A	3: 53,423,994 (GRCm39)	M3148L	probably benign	Het
Hip1	A	T	5: 135,460,584 (GRCm39)	D114E	probably benign	Het
Itga9	T	C	9: 118,706,183 (GRCm39)		probably benign	Het
Kcnt2	T	A	1: 140,437,179 (GRCm39)	N487K	probably damaging	Het
Krt6a	A	G	15: 101,601,606 (GRCm39)	F172L	probably benign	Het
Megf8	C	T	7: 25,040,170 (GRCm39)	R1034W	probably damaging	Het
Muc6	C	T	7: 141,236,075 (GRCm39)	D451N	probably damaging	Het
Myo5a	A	G	9: 75,125,225 (GRCm39)	T1838A	possibly damaging	Het
N4bp2l2	A	T	5: 150,585,073 (GRCm39)	D302E	probably damaging	Het
Nbeal2	T	A	9: 110,459,318 (GRCm39)	I1930F	probably benign	Het
Nhsl3	A	G	4: 129,116,432 (GRCm39)	V732A	probably benign	Het
Npas4	A	T	19: 5,037,392 (GRCm39)	Y301N	probably benign	Het
Nt5m	A	G	11: 59,766,741 (GRCm39)	K211E	probably benign	Het
Pfpl	A	C	19: 12,407,843 (GRCm39)	D698A	probably benign	Het
Pias1	G	T	9: 62,859,137 (GRCm39)	H124N	possibly damaging	Het
Pja2	A	T	17: 64,618,162 (GRCm39)		probably benign	Het
Polr3e	T	C	7: 120,531,465 (GRCm39)	Y185H	probably benign	Het
Pomc	T	C	12: 4,010,275 (GRCm39)	L172S	probably benign	Het
Rapgef4	A	G	2: 71,875,533 (GRCm39)	T129A	probably damaging	Het
Reep1	T	C	6: 71,750,278 (GRCm39)	S97P	probably damaging	Het
Rttn	T	A	18: 89,029,067 (GRCm39)	I595N	possibly damaging	Het
Sap30	T	C	8: 57,938,506 (GRCm39)		probably null	Het
Slc1a7	T	C	4: 107,850,203 (GRCm39)	Y105H	probably damaging	Het
Slc5a5	C	T	8: 71,345,102 (GRCm39)	M68I	probably damaging	Het
Stab2	T	A	10: 86,776,503 (GRCm39)	Y791F	probably benign	Het
Tdrd1	C	A	19: 56,847,094 (GRCm39)	H912N	probably benign	Het
Tdrd1	C	A	19: 56,847,093 (GRCm39)	S911R	probably benign	Het
Tgm7	A	T	2: 120,929,062 (GRCm39)	F278Y	probably damaging	Het
Tln2	T	C	9: 67,283,039 (GRCm39)	T310A	probably damaging	Het
Tmem256	T	C	11: 69,730,271 (GRCm39)	I93T	probably benign	Het
Trpm2	G	A	10: 77,756,305 (GRCm39)	Q1172*	probably null	Het
Ttll8	A	G	15: 88,818,156 (GRCm39)	V173A	possibly damaging	Het
Ubr5	T	C	15: 38,002,543 (GRCm39)	S1497G	possibly damaging	Het
Ubr7	G	A	12: 102,727,764 (GRCm39)		probably null	Het
Vmn1r37	T	A	6: 66,708,878 (GRCm39)	M1K	probably null	Het
Vmn2r14	A	G	5: 109,366,698 (GRCm39)		probably null	Het
Vmn2r72	T	C	7: 85,387,444 (GRCm39)	I707V	probably benign	Het
Vps8	A	G	16: 21,395,507 (GRCm39)	R1266G	probably damaging	Het
Wdr87-ps	T	A	7: 29,235,950 (GRCm39)		noncoding transcript	Het
Zfhx4	A	G	3: 5,307,349 (GRCm39)	N192D	probably damaging	Het
Zfp638	G	C	6: 83,906,500 (GRCm39)	D222H	probably damaging	Het
Zscan29	A	C	2: 120,999,883 (GRCm39)	V106G	probably damaging	Het

Other mutations in Pfn4

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01129:Pfn4	APN	12	4,825,505 (GRCm39)	missense	probably damaging	1.00
IGL01522:Pfn4	APN	12	4,820,240 (GRCm39)	missense	probably benign	0.01
IGL01726:Pfn4	APN	12	4,824,446 (GRCm39)	missense	probably benign	0.00
IGL02896:Pfn4	APN	12	4,825,451 (GRCm39)	missense	probably benign	0.02
R2082:Pfn4	UTSW	12	4,825,439 (GRCm39)	splice site	probably null
R4373:Pfn4	UTSW	12	4,820,182 (GRCm39)	missense	probably damaging	0.99
R4376:Pfn4	UTSW	12	4,820,182 (GRCm39)	missense	probably damaging	0.99
R4377:Pfn4	UTSW	12	4,820,182 (GRCm39)	missense	probably damaging	0.99
R4692:Pfn4	UTSW	12	4,824,486 (GRCm39)	missense	probably damaging	1.00
R6762:Pfn4	UTSW	12	4,825,487 (GRCm39)	missense	probably damaging	1.00
R7711:Pfn4	UTSW	12	4,824,414 (GRCm39)	missense	possibly damaging	0.77
R8125:Pfn4	UTSW	12	4,825,487 (GRCm39)	missense	probably damaging	1.00
R8861:Pfn4	UTSW	12	4,825,456 (GRCm39)	missense	probably benign	0.03
R9300:Pfn4	UTSW	12	4,825,442 (GRCm39)	missense	possibly damaging	0.54

Predicted Primers

PCR Primer
(F):5'- TGGCATGTCACAAAGTGAAAACC -3'
(R):5'- AACCCATCTGTCTTCAAACCTTAG -3'

Sequencing Primer
(F):5'- GAACTCAGCTGGTCTGGTTCAAAC -3'
(R):5'- GCTACTTACATTCTTAGCATAGAGAG -3'

Posted On

2014-10-02