Mutagenetix > Incidental Mutation

Incidental Mutation 'R1443:Afap1'

158637

Institutional Source

Beutler Lab

Gene Symbol

Afap1

Ensembl Gene

ENSMUSG00000029094

Gene Name

actin filament associated protein 1

Synonyms

9630044L16Rik, 2600003E23Rik

MMRRC Submission

039498-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.161) question?

Stock #

R1443 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

36050713-36161267 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to T at 36126005 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Lysine to Asparagine at position 333 (K333N)

Ref Sequence

ENSEMBL: ENSMUSP00000119364 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000064571] [ENSMUST00000141824]

AlphaFold

Q80YS6

Predicted Effect

probably damaging
Transcript: ENSMUST00000064571
AA Change: K333N

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000067779
Gene: ENSMUSG00000029094
AA Change: K333N

Domain	Start	End	E-Value	Type
low complexity region	2	20	N/A	INTRINSIC
Blast:PH	21	110	9e-9	BLAST
low complexity region	112	130	N/A	INTRINSIC
PH	153	250	2.26e-12	SMART
low complexity region	314	335	N/A	INTRINSIC
PH	349	444	3.48e-13	SMART
coiled coil region	557	649	N/A	INTRINSIC

Predicted Effect

probably damaging
Transcript: ENSMUST00000141824
AA Change: K333N

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000119364
Gene: ENSMUSG00000029094
AA Change: K333N

Domain	Start	End	E-Value	Type
low complexity region	2	20	N/A	INTRINSIC
Blast:PH	21	110	7e-9	BLAST
low complexity region	112	130	N/A	INTRINSIC
PH	153	250	2.26e-12	SMART
low complexity region	314	335	N/A	INTRINSIC
PH	349	444	3.48e-13	SMART
coiled coil region	557	627	N/A	INTRINSIC

Coding Region Coverage

1x: 98.8%
3x: 97.7%
10x: 94.2%
20x: 85.7%

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is a Src binding partner. It may represent a potential modulator of actin filament integrity in response to cellular signals, and may function as an adaptor protein by linking Src family members and/or other signaling proteins to actin filaments. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Aug 2008]
PHENOTYPE: Mice homozygous for a knock-out allele exhibit inability to nurse pups due to failed secretory activation, reduced milk lipid synthesis and precocious mammary gland involution. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 60 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Actr8	A	G	14: 29,706,056 (GRCm39)	M99V	possibly damaging	Het
Adamtsl2	T	A	2: 26,993,078 (GRCm39)	C703S	possibly damaging	Het
Aldh3a2	G	A	11: 61,155,133 (GRCm39)	S137L	probably damaging	Het
Alkbh2	C	T	5: 114,262,287 (GRCm39)	E148K	probably damaging	Het
Aoc1	A	T	6: 48,882,379 (GRCm39)	K107M	possibly damaging	Het
Aoc1l1	A	T	6: 48,952,849 (GRCm39)	Y258F	probably damaging	Het
Bltp2	T	A	11: 78,153,624 (GRCm39)	S56R	probably damaging	Het
Bmp8a	G	T	4: 123,210,758 (GRCm39)	S252R	possibly damaging	Het
C7	T	C	15: 5,088,901 (GRCm39)	I13M	probably benign	Het
Cblb	T	A	16: 51,959,974 (GRCm39)	D322E	possibly damaging	Het
Cfap54	G	A	10: 92,768,583 (GRCm39)	T180I	probably damaging	Het
Clrn2	C	T	5: 45,617,453 (GRCm39)	A108V	probably damaging	Het
Cspg4	T	A	9: 56,793,796 (GRCm39)	D510E	probably damaging	Het
Cyp2c40	A	T	19: 39,766,415 (GRCm39)	N393K	possibly damaging	Het
Dcaf5	T	C	12: 80,410,843 (GRCm39)	Y294C	probably damaging	Het
Dclk3	T	A	9: 111,298,088 (GRCm39)	M544K	probably benign	Het
Ell3	A	T	2: 121,269,946 (GRCm39)	F388I	probably damaging	Het
Fam78b	A	G	1: 166,906,329 (GRCm39)	I163V	probably damaging	Het
Gnptab	T	C	10: 88,269,943 (GRCm39)	L882P	probably damaging	Het
Herc2	A	T	7: 55,854,481 (GRCm39)	D3802V	possibly damaging	Het
Hs3st5	A	G	10: 36,709,410 (GRCm39)	E315G	probably benign	Het
Idh3b	A	T	2: 130,125,974 (GRCm39)		probably null	Het
Lama4	G	A	10: 38,949,639 (GRCm39)	E911K	probably damaging	Het
Macf1	A	G	4: 123,404,800 (GRCm39)	I436T	probably damaging	Het
Mgam	C	A	6: 40,736,714 (GRCm39)	S871*	probably null	Het
Mtmr7	A	G	8: 41,013,923 (GRCm39)	S212P	probably damaging	Het
Mylk2	A	G	2: 152,761,336 (GRCm39)	T480A	probably damaging	Het
Myo3a	A	T	2: 22,287,437 (GRCm39)	N191I	probably damaging	Het
Nanog	C	T	6: 122,688,734 (GRCm39)	S105F	probably damaging	Het
Nanos2	A	G	7: 18,721,564 (GRCm39)	Y12C	probably damaging	Het
Nsg1	C	T	5: 38,312,987 (GRCm39)	V71I	probably benign	Het
Or10g3	A	T	14: 52,610,408 (GRCm39)	I34N	probably damaging	Het
Or13a1	T	C	6: 116,471,386 (GRCm39)	L272S	probably benign	Het
Or2ad1	C	T	13: 21,326,337 (GRCm39)	V297I	probably benign	Het
Or51a42	A	T	7: 103,707,930 (GRCm39)	I293N	probably damaging	Het
Or5b105	G	T	19: 13,080,568 (GRCm39)	Y33*	probably null	Het
Pcdhb17	A	G	18: 37,619,701 (GRCm39)	Q497R	probably benign	Het
Pcsk7	C	A	9: 45,837,284 (GRCm39)	P536Q	probably damaging	Het
Phactr4	G	A	4: 132,104,559 (GRCm39)	T256I	probably benign	Het
Phyhip	A	G	14: 70,704,731 (GRCm39)	K317E	probably damaging	Het
Pkhd1	C	T	1: 20,604,782 (GRCm39)	G1178R	probably damaging	Het
Ppp1r9a	G	A	6: 5,057,557 (GRCm39)	G544D	probably damaging	Het
Ptpn3	T	C	4: 57,225,775 (GRCm39)	D480G	probably benign	Het
Ptprn2	A	T	12: 117,217,235 (GRCm39)	K918N	probably damaging	Het
Rab42	T	C	4: 132,029,658 (GRCm39)	D188G	probably benign	Het
Rasgrf2	C	A	13: 92,131,795 (GRCm39)	D20Y	probably damaging	Het
Ryr2	G	A	13: 11,794,152 (GRCm39)	T942I	probably benign	Het
Sbpl	T	C	17: 24,172,328 (GRCm39)	K197R	unknown	Het
Slc44a1	T	A	4: 53,561,069 (GRCm39)	V595E	probably damaging	Het
Slc6a19	A	G	13: 73,832,463 (GRCm39)	M410T	probably damaging	Het
Sntb1	A	T	15: 55,511,351 (GRCm39)	L411H	probably damaging	Het
Synj2	A	G	17: 6,073,940 (GRCm39)	K245E	probably damaging	Het
Tasor2	T	C	13: 3,625,543 (GRCm39)	K1469R	probably benign	Het
Tmem131	G	A	1: 36,864,559 (GRCm39)	T558I	probably damaging	Het
Tnrc18	A	T	5: 142,757,288 (GRCm39)	S1078T	unknown	Het
Trmu	T	A	15: 85,781,302 (GRCm39)		probably null	Het
Ttn	A	T	2: 76,721,430 (GRCm39)		probably benign	Het
Tyw3	T	C	3: 154,293,160 (GRCm39)	T172A	probably benign	Het
Vldlr	T	C	19: 27,217,121 (GRCm39)	I348T	possibly damaging	Het
Zfp114	A	G	7: 23,877,194 (GRCm39)	D12G	probably damaging	Het

Other mutations in Afap1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01397:Afap1	APN	5	36,126,052 (GRCm39)	missense	probably damaging	0.99
IGL01730:Afap1	APN	5	36,119,583 (GRCm39)	missense	probably damaging	1.00
IGL01798:Afap1	APN	5	36,093,026 (GRCm39)	critical splice donor site	probably null
IGL02188:Afap1	APN	5	36,093,421 (GRCm39)	missense	probably benign	0.00
IGL03027:Afap1	APN	5	36,119,094 (GRCm39)	missense	probably benign	0.00
R0124:Afap1	UTSW	5	36,102,553 (GRCm39)	missense	probably damaging	1.00
R0485:Afap1	UTSW	5	36,108,347 (GRCm39)	missense	probably damaging	0.99
R0532:Afap1	UTSW	5	36,125,944 (GRCm39)	missense	possibly damaging	0.86
R0891:Afap1	UTSW	5	36,119,196 (GRCm39)	splice site	probably null
R1370:Afap1	UTSW	5	36,092,944 (GRCm39)	missense	unknown
R1378:Afap1	UTSW	5	36,126,030 (GRCm39)	missense	probably damaging	1.00
R1470:Afap1	UTSW	5	36,119,081 (GRCm39)	splice site	probably benign
R1536:Afap1	UTSW	5	36,131,835 (GRCm39)	missense	probably damaging	1.00
R2357:Afap1	UTSW	5	36,141,618 (GRCm39)	missense	probably damaging	1.00
R4737:Afap1	UTSW	5	36,119,126 (GRCm39)	missense	probably benign	0.03
R5251:Afap1	UTSW	5	36,108,236 (GRCm39)	missense	probably damaging	1.00
R5918:Afap1	UTSW	5	36,131,869 (GRCm39)	missense	possibly damaging	0.60
R5936:Afap1	UTSW	5	36,131,740 (GRCm39)	missense	possibly damaging	0.67
R6008:Afap1	UTSW	5	36,154,895 (GRCm39)	missense	probably damaging	0.99
R6009:Afap1	UTSW	5	36,154,904 (GRCm39)	missense	probably damaging	1.00
R6155:Afap1	UTSW	5	36,092,953 (GRCm39)	missense	unknown
R7058:Afap1	UTSW	5	36,119,604 (GRCm39)	missense	probably benign	0.00
R7320:Afap1	UTSW	5	36,105,567 (GRCm39)	missense	probably damaging	0.98
R7799:Afap1	UTSW	5	36,131,742 (GRCm39)	missense	possibly damaging	0.67
R7946:Afap1	UTSW	5	36,141,396 (GRCm39)	splice site	probably null
R7946:Afap1	UTSW	5	36,092,995 (GRCm39)	missense	probably benign	0.30
R8358:Afap1	UTSW	5	36,131,830 (GRCm39)	missense	probably benign	0.30
R8446:Afap1	UTSW	5	36,144,645 (GRCm39)	missense
R8785:Afap1	UTSW	5	36,108,304 (GRCm39)	nonsense	probably null
R9013:Afap1	UTSW	5	36,133,932 (GRCm39)	missense	possibly damaging	0.94
R9225:Afap1	UTSW	5	36,133,968 (GRCm39)	missense	possibly damaging	0.46
R9711:Afap1	UTSW	5	36,141,540 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- CGCTGTGACATTCCCACTTAACACC -3'
(R):5'- GTGTGACCCAAAGGAGACTCAGTTC -3'

Sequencing Primer
(F):5'- CACCAATGGTTAAGACACACTTTTG -3'
(R):5'- CCTGTGTCCAAGTCTGGAAAC -3'

Posted On

2014-03-14