Mutagenetix > Incidental Mutation

Incidental Mutation 'R8861:Pfn4'

675672

Institutional Source

Beutler Lab

Gene Symbol

Pfn4

Ensembl Gene

ENSMUSG00000020639

Gene Name

profilin family, member 4

Synonyms

2900024P18Rik

MMRRC Submission

068740-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R8861 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

4819022-4828813 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 4825456 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Asparagine at position 98 (Y98N)

Ref Sequence

ENSEMBL: ENSMUSP00000020967 (fasta)

Gene Model

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

AlphaFold

Q9D6I3

Predicted Effect

probably benign
Transcript: ENSMUST00000020967
AA Change: Y98N

PolyPhen 2 Score 0.026 (Sensitivity: 0.95; Specificity: 0.81)

SMART Domains

Protein: ENSMUSP00000020967
Gene: ENSMUSG00000020639
AA Change: Y98N

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

Predicted Effect

probably benign
Transcript: ENSMUST00000178879
AA Change: Y98N

PolyPhen 2 Score 0.026 (Sensitivity: 0.95; Specificity: 0.81)

SMART Domains

Protein: ENSMUSP00000136765
Gene: ENSMUSG00000020639
AA Change: Y98N

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

Predicted Effect

probably benign
Transcript: ENSMUST00000219438

Predicted Effect

probably benign
Transcript: ENSMUST00000219503
AA Change: Y98N

PolyPhen 2 Score 0.020 (Sensitivity: 0.95; Specificity: 0.80)

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.8%
20x: 99.3%

Validation Efficiency

100% (59/59)

Allele List at MGI

Other mutations in this stock

Total: 59 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
3110082I17Rik	T	C	5: 139,396,642 (GRCm39)		probably benign	Het
Acly	A	G	11: 100,375,424 (GRCm39)		probably null	Het
Agap2	T	G	10: 126,926,383 (GRCm39)	V896G	unknown	Het
Agtpbp1	T	C	13: 59,643,287 (GRCm39)	Y724C	probably damaging	Het
Angpt4	A	G	2: 151,767,373 (GRCm39)	N135D	probably damaging	Het
Aox3	T	A	1: 58,189,460 (GRCm39)	I387K	probably benign	Het
Bysl	T	C	17: 47,917,884 (GRCm39)	E103G	probably benign	Het
Cdcp3	A	T	7: 130,861,690 (GRCm39)	K1168*	probably null	Het
Chmp5	T	A	4: 40,964,608 (GRCm39)	V208E	probably damaging	Het
Chst9	T	G	18: 15,585,630 (GRCm39)	H311P	possibly damaging	Het
Cilk1	T	A	9: 78,071,844 (GRCm39)	N505K	probably benign	Het
Dcaf11	C	A	14: 55,801,955 (GRCm39)	Y235*	probably null	Het
Dlx5	A	C	6: 6,878,233 (GRCm39)	S266A	probably benign	Het
Dnah7b	T	A	1: 46,280,236 (GRCm39)	S2722T	possibly damaging	Het
Drc1	G	A	5: 30,521,839 (GRCm39)		probably benign	Het
En2	T	A	5: 28,371,733 (GRCm39)	I70N	probably damaging	Het
Fam72a	T	C	1: 131,466,656 (GRCm39)	Y147H	possibly damaging	Het
Fermt2	A	T	14: 45,697,466 (GRCm39)	F628L	possibly damaging	Het
Fkrp	T	A	7: 16,544,749 (GRCm39)	D371V	probably damaging	Het
Fmn1	T	C	2: 113,195,149 (GRCm39)	L283P	unknown	Het
Gm13271	G	A	4: 88,673,366 (GRCm39)	V88I	probably benign	Het
Gnmt	G	A	17: 47,037,618 (GRCm39)	T120M	probably damaging	Het
H2-T22	A	T	17: 36,353,290 (GRCm39)	V10D	possibly damaging	Het
Hbs1l	T	A	10: 21,220,963 (GRCm39)		probably benign	Het
Igf2bp3	A	C	6: 49,082,550 (GRCm39)	M344R	possibly damaging	Het
Kdm1b	T	C	13: 47,217,582 (GRCm39)	V347A	probably benign	Het
Klra17	A	T	6: 129,851,865 (GRCm39)	S2R	probably damaging	Het
Klri1	A	G	6: 129,675,164 (GRCm39)	S199P	probably benign	Het
Ltk	T	A	2: 119,590,094 (GRCm39)	Q44L	probably benign	Het
Map3k20	C	A	2: 72,219,811 (GRCm39)		probably benign	Het
Matn4	A	T	2: 164,234,825 (GRCm39)	Y549N		Het
Mcoln3	T	A	3: 145,845,159 (GRCm39)	F452I	probably damaging	Het
Mipol1	T	C	12: 57,352,802 (GRCm39)	V47A	probably benign	Het
Msh4	A	G	3: 153,607,105 (GRCm39)	L145S	probably benign	Het
Myh11	A	T	16: 14,064,646 (GRCm39)	I224N		Het
Nat8f1	A	G	6: 85,887,444 (GRCm39)	L172P	probably damaging	Het
Ncoa7	T	A	10: 30,567,364 (GRCm39)	K438I	probably benign	Het
Nr1h3	T	G	2: 91,024,026 (GRCm39)		probably benign	Het
Nuggc	T	C	14: 65,847,484 (GRCm39)		probably null	Het
Or4b12	T	C	2: 90,096,803 (GRCm39)		probably benign	Het
Or5m9b	A	G	2: 85,905,960 (GRCm39)	N292S	probably damaging	Het
Or7h8	A	T	9: 20,124,377 (GRCm39)	H244L	probably damaging	Het
Ppp6r2	T	G	15: 89,143,368 (GRCm39)	C172G	probably damaging	Het
Ptprk	A	G	10: 28,446,186 (GRCm39)	D979G	probably damaging	Het
Rbm28	A	G	6: 29,152,284 (GRCm39)	I329T	probably damaging	Het
Rnf144a	T	C	12: 26,389,343 (GRCm39)	T33A	probably damaging	Het
Rnf145	A	G	11: 44,445,984 (GRCm39)	T273A	probably damaging	Het
Rnf213	G	A	11: 119,333,062 (GRCm39)	R2758H		Het
Slc22a19	A	T	19: 7,660,324 (GRCm39)	M362K	possibly damaging	Het
Slc29a4	G	C	5: 142,704,580 (GRCm39)	R374P	probably damaging	Het
Slc43a1	A	G	2: 84,691,748 (GRCm39)	T528A	possibly damaging	Het
Sp3	A	T	2: 72,801,630 (GRCm39)	Y172N	probably damaging	Het
Srpra	T	A	9: 35,127,045 (GRCm39)	M573K	probably benign	Het
Steap4	A	G	5: 8,025,672 (GRCm39)	I78V	probably benign	Het
Sulf2	A	G	2: 165,974,606 (GRCm39)	L26P	possibly damaging	Het
Taok2	T	C	7: 126,470,615 (GRCm39)	K738E	probably damaging	Het
Tcea3	G	A	4: 135,981,810 (GRCm39)	R56H	probably damaging	Het
Tcf20	A	G	15: 82,736,726 (GRCm39)	V1575A	probably damaging	Het
Togaram1	T	G	12: 65,027,406 (GRCm39)	S798R	possibly 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
R2201:Pfn4	UTSW	12	4,824,382 (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
R9300:Pfn4	UTSW	12	4,825,442 (GRCm39)	missense	possibly damaging	0.54

Predicted Primers

PCR Primer
(F):5'- AGAGATACACGCCATGAAGC -3'
(R):5'- CAGTACTTTCTGTGGTTATGCAC -3'

Sequencing Primer
(F):5'- CCCCTGTTAGGCACAAGAGTTATG -3'
(R):5'- GTCTGAGTAGGGTCTCAAAC -3'

Posted On

2021-07-15