Mutagenetix > Incidental Mutation

Incidental Mutation 'R7946:Afap1'

656373

Institutional Source

Beutler Lab

Gene Symbol

Afap1

Ensembl Gene

ENSMUSG00000029094

Gene Name

actin filament associated protein 1

Synonyms

9630044L16Rik, 2600003E23Rik

MMRRC Submission

045991-MU

Accession Numbers

Essential gene?

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

Stock #

R7946 (G1)

Quality Score

170.009

Status

Validated

Chromosome

Chromosomal Location

36050713-36161267 bp(+) (GRCm39)

Type of Mutation

splice site

DNA Base Change (assembly)

G to A at 36141396 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000119364 (fasta)

Gene Model

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

AlphaFold

Q80YS6

Predicted Effect

probably null
Transcript: ENSMUST00000064571

SMART Domains

Protein: ENSMUSP00000067779
Gene: ENSMUSG00000029094

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 null
Transcript: ENSMUST00000141824

SMART Domains

Protein: ENSMUSP00000119364
Gene: ENSMUSG00000029094

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

Predicted Effect

probably benign
Transcript: ENSMUST00000212374

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 98.8%

Validation Efficiency

98% (54/55)

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: 54 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca16	A	G	7: 120,126,398 (GRCm39)	T1186A	probably benign	Het
Adprhl1	C	T	8: 13,298,682 (GRCm39)	V83I	probably damaging	Het
Ampd3	A	G	7: 110,377,147 (GRCm39)	D46G	probably damaging	Het
Anks4b	A	G	7: 119,781,707 (GRCm39)	K246R	probably benign	Het
Aqp9	C	T	9: 71,030,290 (GRCm39)	V192M	probably damaging	Het
Aspscr1	T	G	11: 120,599,443 (GRCm39)	S132A		Het
Atp2b4	C	A	1: 133,658,320 (GRCm39)	R530L	probably damaging	Het
Bahcc1	T	C	11: 120,163,325 (GRCm39)	V541A	probably benign	Het
Caprin1	A	T	2: 103,603,093 (GRCm39)	V490E	probably damaging	Het
Ccdc7a	T	A	8: 129,643,627 (GRCm39)	K734M	probably damaging	Het
Ccdc9b	G	T	2: 118,590,146 (GRCm39)	P233T	probably benign	Het
Cdc16	A	G	8: 13,812,882 (GRCm39)	K138R	probably benign	Het
Cela2a	A	G	4: 141,549,617 (GRCm39)	S53P	possibly damaging	Het
Clca3a2	A	G	3: 144,513,075 (GRCm39)		probably null	Het
Cntrob	T	C	11: 69,206,047 (GRCm39)	E373G	possibly damaging	Het
Csmd2	T	C	4: 128,414,058 (GRCm39)	Y2633H		Het
Ctbp1	A	T	5: 33,407,688 (GRCm39)	M296K	probably benign	Het
Dido1	G	T	2: 180,303,501 (GRCm39)	Q1468K	possibly damaging	Het
Dnah7b	T	C	1: 46,272,739 (GRCm39)	F2289S	probably damaging	Het
Fndc7	T	A	3: 108,779,452 (GRCm39)	D364V	possibly damaging	Het
Ggt7	G	T	2: 155,347,892 (GRCm39)	H180Q	probably damaging	Het
Gm14399	A	T	2: 174,973,273 (GRCm39)	C161S	probably damaging	Het
Gm17324	T	C	9: 78,355,794 (GRCm39)	T62A	unknown	Het
Gpr107	A	G	2: 31,078,716 (GRCm39)	I384V	probably damaging	Het
Igsf10	C	A	3: 59,227,125 (GRCm39)	V2183L	possibly damaging	Het
Il23r	T	A	6: 67,411,648 (GRCm39)	H363L	possibly damaging	Het
Inka2	T	A	3: 105,623,761 (GRCm39)	L45H	probably damaging	Het
Iqsec1	A	T	6: 90,667,252 (GRCm39)	I291N	probably damaging	Het
Kcnc3	A	T	7: 44,245,569 (GRCm39)	T620S	probably benign	Het
Kif2b	T	C	11: 91,466,571 (GRCm39)	N571D	probably benign	Het
Klrb1c	T	A	6: 128,766,072 (GRCm39)		probably benign	Het
Mgst2	A	G	3: 51,584,991 (GRCm39)	N55S	probably damaging	Het
Neb	T	C	2: 52,102,746 (GRCm39)	D4509G	probably damaging	Het
Obox1	G	T	7: 15,289,456 (GRCm39)	V82F	probably benign	Het
Or4k51	A	T	2: 111,585,163 (GRCm39)	M190L	probably benign	Het
Or5p59	A	G	7: 107,703,053 (GRCm39)	D179G	probably benign	Het
Or7e174	T	C	9: 20,012,780 (GRCm39)	S242P	probably damaging	Het
Pakap	A	T	4: 57,710,045 (GRCm39)	N330I	probably damaging	Het
Phf21a	A	T	2: 92,189,512 (GRCm39)	E590D	probably damaging	Het
Rai14	T	C	15: 10,574,287 (GRCm39)		probably null	Het
Rfx7	T	C	9: 72,524,096 (GRCm39)	Y429H	probably damaging	Het
Spata31d1d	G	T	13: 59,878,606 (GRCm39)	A77E	probably benign	Het
Stra8	A	G	6: 34,907,816 (GRCm39)		probably null	Het
Syne1	A	G	10: 5,200,919 (GRCm39)	S3550P	possibly damaging	Het
Tars2	A	T	3: 95,657,693 (GRCm39)	H249Q	probably damaging	Het
Tomm5	T	C	4: 45,107,969 (GRCm39)	E22G	probably benign	Het
Tor1a	A	G	2: 30,853,704 (GRCm39)		probably null	Het
Trim43b	A	G	9: 88,973,538 (GRCm39)	I65T	probably damaging	Het
Ubr3	T	C	2: 69,781,739 (GRCm39)	M640T	possibly damaging	Het
Vegfa	A	T	17: 46,336,377 (GRCm39)	Y248N	probably damaging	Het
Vmn1r172	T	G	7: 23,358,857 (GRCm39)		probably null	Het
Vmn1r29	G	T	6: 58,284,834 (GRCm39)	V185F	probably benign	Het
Wdfy4	G	A	14: 32,826,072 (GRCm39)	P1193L		Het
Wdfy4	T	C	14: 32,792,705 (GRCm39)	K2114E		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
R7799:Afap1	UTSW	5	36,131,742 (GRCm39)	missense	possibly damaging	0.67
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'- GGCCCACACTTGTCAGAAAG -3'
(R):5'- CGTCATCATAGTGTAGTGCTGTCC -3'

Sequencing Primer
(F):5'- CTTGTCAGAAAGAACTGCTGTGCC -3'
(R):5'- ATCATAGTGTAGTGCTGTCCCACTG -3'

Posted On

2020-10-29