Mutagenetix > Incidental Mutation

Incidental Mutation 'R0485:Afap1'

42195

Institutional Source

Beutler Lab

Gene Symbol

Afap1

Ensembl Gene

ENSMUSG00000029094

Gene Name

actin filament associated protein 1

Synonyms

9630044L16Rik, 2600003E23Rik

MMRRC Submission

038684-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.211) question?

Stock #

R0485 (G1)

Quality Score

160

Status

Validated

Chromosome

Chromosomal Location

36050713-36161267 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 36108347 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamine to Leucine at position 231 (Q231L)

Ref Sequence

ENSEMBL: ENSMUSP00000067779 (fasta)

Gene Model

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

AlphaFold

Q80YS6

Predicted Effect

probably damaging
Transcript: ENSMUST00000064571
AA Change: Q231L

PolyPhen 2 Score 0.991 (Sensitivity: 0.71; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000067779
Gene: ENSMUSG00000029094
AA Change: Q231L

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: Q231L

PolyPhen 2 Score 0.983 (Sensitivity: 0.75; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000119364
Gene: ENSMUSG00000029094
AA Change: Q231L

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

0.5087

Coding Region Coverage

1x: 99.1%
3x: 98.3%
10x: 96.3%
20x: 92.4%

Validation Efficiency

100% (95/95)

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: 89 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700037C18Rik	A	G	16: 3,725,511 (GRCm39)	V5A	probably damaging	Het
Abi3bp	A	G	16: 56,424,375 (GRCm39)		probably null	Het
Acot11	G	A	4: 106,619,224 (GRCm39)	R184C	probably damaging	Het
Adgre5	A	T	8: 84,458,627 (GRCm39)	I133N	probably damaging	Het
Alg12	T	C	15: 88,695,630 (GRCm39)	T289A	probably benign	Het
Ank3	T	A	10: 69,718,374 (GRCm39)	S542T	possibly damaging	Het
Ankmy2	G	A	12: 36,232,389 (GRCm39)	R138Q	possibly damaging	Het
Ascc2	C	T	11: 4,622,302 (GRCm39)	A456V	probably benign	Het
Atg4c	G	A	4: 99,112,719 (GRCm39)	V289I	probably benign	Het
Bbs7	A	T	3: 36,657,022 (GRCm39)	Y269N	probably damaging	Het
Bcas3	T	A	11: 85,386,676 (GRCm39)	D370E	probably damaging	Het
Bicc1	T	G	10: 70,761,145 (GRCm39)	E955A	probably damaging	Het
Bok	T	C	1: 93,616,999 (GRCm39)	F115S	probably damaging	Het
Caap1	A	T	4: 94,438,758 (GRCm39)		probably null	Het
Cacna2d3	T	A	14: 29,256,476 (GRCm39)	M95L	possibly damaging	Het
Calcrl	T	A	2: 84,200,435 (GRCm39)	D115V	probably benign	Het
Car7	A	T	8: 105,270,170 (GRCm39)	M57L	probably benign	Het
Casq1	G	T	1: 172,037,957 (GRCm39)		probably benign	Het
Cep290	A	T	10: 100,385,206 (GRCm39)	D1894V	possibly damaging	Het
Clec4a2	T	A	6: 123,100,588 (GRCm39)	N14K	probably damaging	Het
Col16a1	G	T	4: 129,984,290 (GRCm39)		probably benign	Het
Col5a1	T	C	2: 27,880,109 (GRCm39)		probably benign	Het
Col5a2	A	T	1: 45,417,642 (GRCm39)	I1311N	probably damaging	Het
Col5a3	T	C	9: 20,694,004 (GRCm39)	T1050A	probably damaging	Het
Colgalt2	A	T	1: 152,360,622 (GRCm39)	I220F	probably damaging	Het
Cpb1	A	T	3: 20,329,792 (GRCm39)	V8E	unknown	Het
Dchs1	C	T	7: 105,421,934 (GRCm39)	R162H	probably benign	Het
Dhx37	A	G	5: 125,499,295 (GRCm39)	Y638H	probably benign	Het
Dhx40	T	G	11: 86,662,088 (GRCm39)		probably benign	Het
Ehd2	T	A	7: 15,686,001 (GRCm39)	Q357L	probably benign	Het
Ewsr1	T	C	11: 5,020,737 (GRCm39)		probably benign	Het
Fcho1	C	T	8: 72,165,204 (GRCm39)	A418T	probably benign	Het
Gid8	T	A	2: 180,355,004 (GRCm39)	Y3*	probably null	Het
Gm10212	A	C	19: 11,548,174 (GRCm39)		noncoding transcript	Het
Grin3b	T	A	10: 79,809,890 (GRCm39)	N465K	possibly damaging	Het
H1f3	A	T	13: 23,739,924 (GRCm39)	K221*	probably null	Het
Htr4	A	T	18: 62,561,225 (GRCm39)	N162I	probably damaging	Het
Irag2	T	C	6: 145,110,938 (GRCm39)	C248R	probably damaging	Het
Itga3	T	C	11: 94,952,796 (GRCm39)	D325G	probably benign	Het
Itpr3	T	G	17: 27,330,903 (GRCm39)	V1737G	probably damaging	Het
Kcnab2	C	T	4: 152,479,439 (GRCm39)	V251I	probably benign	Het
Kcnn2	A	T	18: 45,693,215 (GRCm39)	I264L	probably benign	Het
Klhl41	T	C	2: 69,501,600 (GRCm39)	Y354H	probably damaging	Het
Klra6	T	C	6: 130,000,601 (GRCm39)	I68V	probably benign	Het
Letm2	G	T	8: 26,082,574 (GRCm39)	P178Q	probably damaging	Het
Lypd11	C	A	7: 24,422,170 (GRCm39)	C193F	possibly damaging	Het
Mbtps1	A	T	8: 120,249,340 (GRCm39)		probably benign	Het
Mecom	C	T	3: 30,035,121 (GRCm39)		probably benign	Het
Mrps5	T	A	2: 127,433,745 (GRCm39)	S45T	possibly damaging	Het
Msra	T	A	14: 64,678,210 (GRCm39)	I29F	possibly damaging	Het
Mup5	T	C	4: 61,751,229 (GRCm39)		probably null	Het
Myo1a	T	C	10: 127,555,111 (GRCm39)		probably benign	Het
Myrip	C	A	9: 120,270,443 (GRCm39)	N564K	probably benign	Het
Naa20	T	A	2: 145,757,592 (GRCm39)	D148E	probably damaging	Het
Naga	T	G	15: 82,220,956 (GRCm39)		probably benign	Het
Npc1	A	G	18: 12,346,503 (GRCm39)	V231A	probably benign	Het
Nphs1	T	C	7: 30,166,940 (GRCm39)	F716L	probably benign	Het
Or8s5	T	C	15: 98,238,810 (GRCm39)	H20R	probably benign	Het
Parn	G	C	16: 13,472,299 (GRCm39)		probably benign	Het
Polk	A	T	13: 96,620,272 (GRCm39)	C664S	probably benign	Het
Prkar2b	A	G	12: 32,026,034 (GRCm39)		probably benign	Het
Prkdc	A	G	16: 15,651,604 (GRCm39)	E3747G	probably damaging	Het
Prmt5	A	T	14: 54,748,712 (GRCm39)	M362K	probably damaging	Het
Prob1	T	C	18: 35,786,878 (GRCm39)	T459A	possibly damaging	Het
Rttn	C	T	18: 89,108,543 (GRCm39)		probably benign	Het
Scn1a	T	C	2: 66,104,269 (GRCm39)	M1664V	probably damaging	Het
Sez6	T	A	11: 77,844,639 (GRCm39)	L154H	probably damaging	Het
Sh3tc1	A	G	5: 35,859,356 (GRCm39)		probably benign	Het
Shkbp1	C	T	7: 27,048,006 (GRCm39)	G334D	probably damaging	Het
Slc8a1	A	T	17: 81,955,422 (GRCm39)	F539I	probably damaging	Het
Spata31e5	G	T	1: 28,817,223 (GRCm39)	Q270K	probably damaging	Het
Sptan1	T	C	2: 29,903,860 (GRCm39)		probably benign	Het
Ssc5d	C	T	7: 4,940,470 (GRCm39)	T861M	probably damaging	Het
Tbx5	A	T	5: 120,021,523 (GRCm39)	M510L	probably benign	Het
Tdp1	A	G	12: 99,876,101 (GRCm39)	T351A	probably benign	Het
Tmc8	T	A	11: 117,682,904 (GRCm39)		probably benign	Het
Tmco5	T	A	2: 116,720,588 (GRCm39)	D205E	probably benign	Het
Tmprss2	T	C	16: 97,373,194 (GRCm39)		probably benign	Het
Top6bl	A	T	19: 4,708,442 (GRCm39)	I350N	probably damaging	Het
Tph1	T	A	7: 46,299,448 (GRCm39)	K364N	probably benign	Het
Trim24	T	C	6: 37,934,001 (GRCm39)	L648P	probably damaging	Het
Trmt6	C	A	2: 132,650,950 (GRCm39)		probably benign	Het
Ube2i	A	T	17: 25,488,259 (GRCm39)		probably benign	Het
Vcan	A	C	13: 89,852,779 (GRCm39)	L727R	possibly damaging	Het
Vmn2r28	T	C	7: 5,491,689 (GRCm39)	Y186C	probably damaging	Het
Wars1	C	A	12: 108,841,083 (GRCm39)	D232Y	probably damaging	Het
Xrcc5	T	C	1: 72,378,104 (GRCm39)		probably benign	Het
Zbtb24	T	A	10: 41,340,532 (GRCm39)	S543T	probably damaging	Het
Zfp91	A	G	19: 12,753,353 (GRCm39)		probably benign	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
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	36,141,396 (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'- TGCCTCAGCCGACTTAGCATACAC -3'
(R):5'- GGGCAGGGCAAAATTAACATGTAACTC -3'

Sequencing Primer
(F):5'- AGACGGTGTCACACCTGTTC -3'
(R):5'- GGAAGTGTGTCTCAGAGTCATG -3'

Posted On

2013-05-23