Mutagenetix > Incidental Mutations

Incidental Mutation 'R6155:Afap1'

489513

Institutional Source

Beutler Lab

Gene Symbol

Afap1

Ensembl Gene

ENSMUSG00000029094

Gene Name

actin filament associated protein 1

Synonyms

MMRRC Submission

044302-MU

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.182) question?

Stock #

R6155 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

35893319-36003923 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 35935609 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Cysteine at position 19 (Y19C)

Ref Sequence

ENSEMBL: ENSMUSP00000119364 (fasta)

Gene Model

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

AlphaFold

Q80YS6

Predicted Effect

unknown
Transcript: ENSMUST00000064571
AA Change: Y19C

SMART Domains

Protein: ENSMUSP00000067779
Gene: ENSMUSG00000029094
AA Change: Y19C

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

unknown
Transcript: ENSMUST00000141824
AA Change: Y19C

SMART Domains

Protein: ENSMUSP00000119364
Gene: ENSMUSG00000029094
AA Change: Y19C

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

Meta Mutation Damage Score

0.0601

Coding Region Coverage

1x: 99.9%
3x: 99.6%
10x: 97.9%
20x: 94.1%

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: 68 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcg3	T	C	5: 104,963,644	Y319C	probably benign	Het
Actn4	A	C	7: 28,896,141	I763S	probably damaging	Het
Actr8	G	A	14: 29,978,589		probably null	Het
Adrb1	T	C	19: 56,722,904	L178P	probably damaging	Het
Ankrd36	A	G	11: 5,687,442	E1337G	probably benign	Het
Arl4a	A	C	12: 40,036,520	V76G	probably damaging	Het
B230118H07Rik	A	T	2: 101,576,010		probably null	Het
Bmp1	A	T	14: 70,508,007	I246K	probably damaging	Het
Camk4	A	T	18: 32,939,447	T18S	unknown	Het
Cep152	T	C	2: 125,581,700	H927R	probably benign	Het
Clca3a2	A	G	3: 144,819,357	I38T	probably damaging	Het
Clec2g	A	C	6: 128,980,273	T54P	probably damaging	Het
Cox20	A	G	1: 178,321,797	E31G	possibly damaging	Het
Crispld1	T	A	1: 17,753,017	H407Q	probably benign	Het
Csmd1	T	C	8: 15,903,231	I3417V	probably benign	Het
Dhtkd1	A	C	2: 5,910,359	H700Q	probably null	Het
Dnah10	G	A	5: 124,770,599	V1516M	probably damaging	Het
Dnah10	A	G	5: 124,785,175	T2165A	probably damaging	Het
Dock2	C	G	11: 34,294,123	M1072I	probably benign	Het
F11	T	A	8: 45,252,082	T141S	probably damaging	Het
Gabra6	T	A	11: 42,316,523	I245F	probably damaging	Het
Gm13101	T	A	4: 143,965,142	H337L	probably benign	Het
Gm8909	G	A	17: 36,167,507	A211V	possibly damaging	Het
Herc1	T	A	9: 66,433,423	C1685S	possibly damaging	Het
Il20	G	T	1: 130,910,740	D73E	probably damaging	Het
Ireb2	C	A	9: 54,886,527	P247Q	probably damaging	Het
Kcng3	T	C	17: 83,588,378	I220V	probably benign	Het
Lce1j	T	G	3: 92,789,072	Q133P	unknown	Het
Lgals9	C	T	11: 78,963,505	A287T	probably benign	Het
Lrrc52	A	G	1: 167,466,727		probably benign	Het
Map3k5	A	T	10: 20,118,441	H1027L	probably benign	Het
Morc3	A	G	16: 93,862,425	D407G	possibly damaging	Het
Myom1	T	C	17: 71,108,695		probably null	Het
Ncapg2	T	C	12: 116,438,011	F673S	possibly damaging	Het
Ncoa6	T	C	2: 155,407,448	D1312G	probably damaging	Het
Nkx1-1	A	T	5: 33,431,051	F298I	probably damaging	Het
Npas2	G	A	1: 39,287,476	R14Q	probably damaging	Het
Npas4	C	T	19: 4,986,870	C422Y	probably damaging	Het
Olfr1230	A	G	2: 89,296,421	L283S	probably damaging	Het
Olfr1381	T	A	11: 49,552,584	I279N	possibly damaging	Het
Olfr481	T	C	7: 108,081,286	V164A	probably benign	Het
Olfr749	T	C	14: 50,736,619	D181G	probably benign	Het
Pcdhga4	T	C	18: 37,686,493	I365T	probably damaging	Het
Pear1	T	A	3: 87,759,568	T37S	probably damaging	Het
Pkn2	A	T	3: 142,853,693	F24I	probably benign	Het
Plcb3	G	A	19: 6,966,165	A122V	probably damaging	Het
Pnliprp1	T	C	19: 58,730,133		probably null	Het
Psmb3	T	A	11: 97,712,452	F164I	probably damaging	Het
Ptch2	T	A	4: 117,096,908	F45Y	probably damaging	Het
Ptpn23	C	A	9: 110,387,781		probably benign	Het
Pusl1	A	G	4: 155,890,548	S199P	probably damaging	Het
Rasgrp2	C	A	19: 6,402,501	L35I	probably damaging	Het
Rictor	T	C	15: 6,793,977	L1545P	probably benign	Het
Rtn4r	A	T	16: 18,151,394	M229L	probably benign	Het
Ruvbl1	A	T	6: 88,479,125		probably null	Het
Slc35b3	A	T	13: 38,944,596	S30T	probably damaging	Het
Sorcs3	T	C	19: 48,398,697	V207A	possibly damaging	Het
Sox13	A	G	1: 133,393,267	S2P	probably damaging	Het
Sptbn1	A	C	11: 30,137,403	L999R	probably damaging	Het
Taf4	A	G	2: 179,913,524	V1015A	probably damaging	Het
Top3b	T	C	16: 16,891,509	L687P	probably damaging	Het
Tpp2	T	A	1: 43,956,489	V268E	probably damaging	Het
Ttc6	T	C	12: 57,737,616	Y1824H	possibly damaging	Het
Txk	A	G	5: 72,700,726	Y360H	probably damaging	Het
Vmn2r57	T	C	7: 41,428,690	I115V	probably benign	Het
Vmn2r98	T	C	17: 19,065,881	S214P	possibly damaging	Het
Zbtb48	T	C	4: 152,022,038		probably null	Het
Zzz3	A	G	3: 152,427,682	I126V	possibly damaging	Het

Other mutations in Afap1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01397:Afap1	APN	5	35968708	missense	probably damaging	0.99
IGL01730:Afap1	APN	5	35962239	missense	probably damaging	1.00
IGL01798:Afap1	APN	5	35935682	critical splice donor site	probably null
IGL02188:Afap1	APN	5	35936077	missense	probably benign	0.00
IGL03027:Afap1	APN	5	35961750	missense	probably benign	0.00
R0124:Afap1	UTSW	5	35945209	missense	probably damaging	1.00
R0485:Afap1	UTSW	5	35951003	missense	probably damaging	0.99
R0532:Afap1	UTSW	5	35968600	missense	possibly damaging	0.86
R0891:Afap1	UTSW	5	35961852	splice site	probably null
R1370:Afap1	UTSW	5	35935600	missense	unknown
R1378:Afap1	UTSW	5	35968686	missense	probably damaging	1.00
R1443:Afap1	UTSW	5	35968661	missense	probably damaging	1.00
R1470:Afap1	UTSW	5	35961737	splice site	probably benign
R1536:Afap1	UTSW	5	35974491	missense	probably damaging	1.00
R2357:Afap1	UTSW	5	35984274	missense	probably damaging	1.00
R4737:Afap1	UTSW	5	35961782	missense	probably benign	0.03
R5251:Afap1	UTSW	5	35950892	missense	probably damaging	1.00
R5918:Afap1	UTSW	5	35974525	missense	possibly damaging	0.60
R5936:Afap1	UTSW	5	35974396	missense	possibly damaging	0.67
R6008:Afap1	UTSW	5	35997551	missense	probably damaging	0.99
R6009:Afap1	UTSW	5	35997560	missense	probably damaging	1.00
R7058:Afap1	UTSW	5	35962260	missense	probably benign	0.00
R7320:Afap1	UTSW	5	35948223	missense	probably damaging	0.98
R7799:Afap1	UTSW	5	35974398	missense	possibly damaging	0.67
R7946:Afap1	UTSW	5	35935651	missense	probably benign	0.30
R7946:Afap1	UTSW	5	35984052	splice site	probably null
R8358:Afap1	UTSW	5	35974486	missense	probably benign	0.30
R8446:Afap1	UTSW	5	35987301	missense
R8785:Afap1	UTSW	5	35950960	nonsense	probably null
R9013:Afap1	UTSW	5	35976588	missense	possibly damaging	0.94
R9225:Afap1	UTSW	5	35976624	missense	possibly damaging	0.46

Predicted Primers

PCR Primer
(F):5'- TGTGATCGGACTGAACGTGAG -3'
(R):5'- TCTACCTGAGACCAGACCAG -3'

Sequencing Primer
(F):5'- ACTGAACGTGAGCCACTG -3'
(R):5'- AATTCATGGATGGGATAGTGTCAG -3'

Posted On

2017-10-10