Mutagenetix > Incidental Mutation

Incidental Mutation 'R7799:Afap1'

600420

Institutional Source

Beutler Lab

Gene Symbol

Afap1

Ensembl Gene

ENSMUSG00000029094

Gene Name

actin filament associated protein 1

Synonyms

9630044L16Rik, 2600003E23Rik

MMRRC Submission

045854-MU

Accession Numbers

Essential gene?

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

Stock #

R7799 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

36050713-36161267 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 36131742 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Lysine at position 356 (N356K)

Ref Sequence

ENSEMBL: ENSMUSP00000067779 (fasta)

Gene Model

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

AlphaFold

Q80YS6

Predicted Effect

possibly damaging
Transcript: ENSMUST00000064571
AA Change: N356K

PolyPhen 2 Score 0.673 (Sensitivity: 0.86; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000067779
Gene: ENSMUSG00000029094
AA Change: N356K

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

possibly damaging
Transcript: ENSMUST00000141824
AA Change: N356K

PolyPhen 2 Score 0.673 (Sensitivity: 0.86; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000119364
Gene: ENSMUSG00000029094
AA Change: N356K

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: 100.0%
3x: 99.9%
10x: 99.7%
20x: 99.1%

Validation Efficiency

98% (50/51)

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: 55 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1110002E22Rik	T	C	3: 137,775,362 (GRCm39)	V1517A	probably benign	Het
Adam17	C	A	12: 21,390,493 (GRCm39)	G410C	probably damaging	Het
Adcy3	A	G	12: 4,254,762 (GRCm39)	D698G	probably damaging	Het
Afm	A	G	5: 90,671,713 (GRCm39)	N132D	probably benign	Het
Bsdc1	T	A	4: 129,359,141 (GRCm39)		probably null	Het
Ccdc121rt2	T	G	5: 112,597,698 (GRCm39)	Y82D	not run	Het
Ccdc47	T	C	11: 106,101,143 (GRCm39)	E173G	possibly damaging	Het
Cit	T	G	5: 116,001,027 (GRCm39)	F142C	probably benign	Het
Cnga3	A	G	1: 37,300,852 (GRCm39)	D524G	probably damaging	Het
Cpne8	T	A	15: 90,424,450 (GRCm39)	D313V	probably damaging	Het
Ell3	TCTCCTC	TCTC	2: 121,269,937 (GRCm39)		probably benign	Het
Flrt1	C	A	19: 7,073,229 (GRCm39)	L439F	possibly damaging	Het
Gkn1	A	T	6: 87,325,163 (GRCm39)	I82N	probably damaging	Het
Gm14410	C	A	2: 176,885,613 (GRCm39)	C217F	probably damaging	Het
Gm14412	G	T	2: 177,007,590 (GRCm39)	H102N	probably benign	Het
Gm3159	A	T	14: 4,397,585 (GRCm38)		probably benign	Het
Golm2	T	C	2: 121,764,022 (GRCm39)	V434A	probably benign	Het
Helz2	A	G	2: 180,879,782 (GRCm39)	M612T	probably benign	Het
Iars1	T	A	13: 49,876,494 (GRCm39)	I853N	probably damaging	Het
Kcna4	A	C	2: 107,126,237 (GRCm39)	I324L	possibly damaging	Het
Kcnh1	T	C	1: 192,117,183 (GRCm39)	S690P	probably damaging	Het
Kpna3	T	C	14: 61,622,182 (GRCm39)	Y194C	probably damaging	Het
Lrrc56	T	C	7: 140,789,515 (GRCm39)	S511P	probably damaging	Het
Ltbp1	A	G	17: 75,559,351 (GRCm39)	Y280C	probably damaging	Het
Macf1	A	G	4: 123,420,906 (GRCm39)	I116T	probably benign	Het
Mmp16	A	T	4: 18,112,112 (GRCm39)	N496I	probably damaging	Het
Mon2	T	C	10: 122,878,236 (GRCm39)	D229G	probably benign	Het
Or2b2	T	A	13: 21,887,369 (GRCm39)	L66Q	probably damaging	Het
Or2j6	A	T	7: 139,980,377 (GRCm39)	M194K	probably damaging	Het
Or52s1	A	G	7: 102,861,186 (GRCm39)	I40V	probably benign	Het
Or5p61	T	A	7: 107,758,637 (GRCm39)	I148F	probably benign	Het
Or5w14	G	T	2: 87,541,428 (GRCm39)	T274K	possibly damaging	Het
Pkp1	A	G	1: 135,817,695 (GRCm39)	F147L	possibly damaging	Het
Ppp1r3e	T	C	14: 55,114,672 (GRCm39)	Q30R	probably damaging	Het
Ppp2r5b	C	A	19: 6,282,628 (GRCm39)	R174L	probably benign	Het
Pramel58	A	G	5: 94,831,287 (GRCm39)	D98G	possibly damaging	Het
Qrfprl	G	T	6: 65,433,121 (GRCm39)	A314S	possibly damaging	Het
Rbm15	C	T	3: 107,239,459 (GRCm39)	R313H	probably damaging	Het
Rgs18	A	G	1: 144,629,603 (GRCm39)	F219L	probably damaging	Het
Ryr1	T	C	7: 28,702,985 (GRCm39)		probably null	Het
Sirpd	T	A	3: 15,361,723 (GRCm39)		probably null	Het
Sirt4	T	G	5: 115,617,805 (GRCm39)	I284L	probably benign	Het
Slc25a11	A	G	11: 70,536,005 (GRCm39)	V243A	probably benign	Het
Syde1	A	G	10: 78,425,741 (GRCm39)	I142T	probably benign	Het
Synj2	A	G	17: 6,088,098 (GRCm39)	E1383G	probably benign	Het
Syt4	A	T	18: 31,573,245 (GRCm39)	C423*	probably null	Het
Tfr2	T	A	5: 137,569,986 (GRCm39)	Y131N	possibly damaging	Het
Tgm1	C	T	14: 55,949,932 (GRCm39)	R92Q	unknown	Het
Thoc1	A	T	18: 9,984,441 (GRCm39)	D309V	probably damaging	Het
Vmn2r24	C	T	6: 123,757,422 (GRCm39)	H97Y	probably benign	Het
Wbp1	A	T	6: 83,097,176 (GRCm39)	Y89*	probably null	Het
Wnk1	A	G	6: 119,926,137 (GRCm39)	L1358P	probably benign	Het
Zfp14	T	C	7: 29,738,368 (GRCm39)	T206A	possibly damaging	Het
Zfp748	T	C	13: 67,689,608 (GRCm39)	T551A	probably benign	Het
Zfp9	A	T	6: 118,441,843 (GRCm39)	V273E	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
R1443:Afap1	UTSW	5	36,126,005 (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
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'- AAACTGGTCCTGATACCGTG -3'
(R):5'- TCCTGTCCGTTTCGAAGCAG -3'

Sequencing Primer
(F):5'- TCCTGATACCGTGCAGTGG -3'
(R):5'- CGTTTCGAAGCAGCCGGAAG -3'

Posted On

2019-11-26