Mutagenetix > Incidental Mutation

Incidental Mutation 'R0124:Afap1'

21210

Institutional Source

Beutler Lab

Gene Symbol

Afap1

Ensembl Gene

ENSMUSG00000029094

Gene Name

actin filament associated protein 1

Synonyms

9630044L16Rik, 2600003E23Rik

MMRRC Submission

038409-MU

Accession Numbers

Essential gene?

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

Stock #

R0124 (G1)

Quality Score

225

Status

Validated (trace)

Chromosome

Chromosomal Location

36050713-36161267 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 36102553 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Proline to Serine at position 82 (P82S)

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: P82S

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

SMART Domains

Protein: ENSMUSP00000067779
Gene: ENSMUSG00000029094
AA Change: P82S

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: P82S

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000119364
Gene: ENSMUSG00000029094
AA Change: P82S

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

0.0947

Coding Region Coverage

1x: 99.3%
3x: 98.3%
10x: 95.7%
20x: 89.8%

Validation Efficiency

100% (67/67)

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
1700003E16Rik	A	G	6: 83,138,656 (GRCm39)	T194A	probably benign	Het
Ankrd28	A	G	14: 31,449,698 (GRCm39)	Y481H	probably damaging	Het
Arid1b	C	T	17: 5,389,605 (GRCm39)	T1717I	probably damaging	Het
Atad2b	A	G	12: 5,002,676 (GRCm39)	K348R	probably benign	Het
Bcl3	C	T	7: 19,543,576 (GRCm39)	V5M	probably damaging	Het
C2cd3	A	G	7: 100,118,725 (GRCm39)	E2321G	probably benign	Het
Casq1	C	T	1: 172,037,992 (GRCm39)	V380M	probably damaging	Het
Cd209e	T	A	8: 3,901,274 (GRCm39)	T127S	probably benign	Het
Cdh23	G	T	10: 60,143,835 (GRCm39)	Y2921*	probably null	Het
Cdh6	A	G	15: 13,034,410 (GRCm39)	L750P	probably damaging	Het
Cdk12	T	C	11: 98,102,073 (GRCm39)		probably benign	Het
Ces5a	T	C	8: 94,255,183 (GRCm39)	E170G	probably damaging	Het
Clec4f	A	G	6: 83,629,335 (GRCm39)		probably null	Het
Col19a1	T	C	1: 24,565,539 (GRCm39)	N264S	unknown	Het
Col2a1	T	A	15: 97,896,743 (GRCm39)	I43F	unknown	Het
Col4a2	A	G	8: 11,458,871 (GRCm39)		probably benign	Het
Csmd3	T	A	15: 47,454,112 (GRCm39)	D3578V	probably damaging	Het
Cyp2c37	T	C	19: 39,982,546 (GRCm39)	L128P	probably damaging	Het
Dennd2b	A	G	7: 109,141,718 (GRCm39)	S132P	possibly damaging	Het
Dysf	A	G	6: 84,042,084 (GRCm39)		probably benign	Het
Eml1	T	C	12: 108,472,867 (GRCm39)	V225A	probably benign	Het
Eml1	A	G	12: 108,475,437 (GRCm39)	Y256C	probably damaging	Het
Epb41l5	T	A	1: 119,561,370 (GRCm39)	K64*	probably null	Het
Fat2	A	G	11: 55,174,504 (GRCm39)	F2070L	probably damaging	Het
Fbxw18	G	T	9: 109,520,583 (GRCm39)	H259N	probably benign	Het
Gm10764	A	T	10: 87,126,610 (GRCm39)	T6S	unknown	Het
Gm14412	A	G	2: 177,007,705 (GRCm39)		probably benign	Het
Heatr5b	A	T	17: 79,133,646 (GRCm39)		probably benign	Het
Hid1	T	C	11: 115,247,649 (GRCm39)	T250A	probably damaging	Het
Hnf4g	A	G	3: 3,708,142 (GRCm39)		probably benign	Het
Ifnar1	C	T	16: 91,296,425 (GRCm39)	Q309*	probably null	Het
Lrriq1	C	T	10: 103,006,281 (GRCm39)		probably null	Het
Map3k13	A	G	16: 21,722,506 (GRCm39)	T223A	possibly damaging	Het
Matn2	C	T	15: 34,426,297 (GRCm39)		probably benign	Het
Myo6	A	G	9: 80,215,056 (GRCm39)	E1253G	probably damaging	Het
Nomo1	G	T	7: 45,732,652 (GRCm39)		probably benign	Het
Or1ak2	A	T	2: 36,827,268 (GRCm39)	I46F	possibly damaging	Het
Or4c116	A	T	2: 88,942,088 (GRCm39)	I256K	possibly damaging	Het
Or8a1b	A	G	9: 37,622,759 (GRCm39)	V272A	possibly damaging	Het
Papolg	C	T	11: 23,817,535 (GRCm39)	A582T	probably benign	Het
Plekhm3	C	T	1: 64,960,910 (GRCm39)	E449K	probably damaging	Het
Pole	T	G	5: 110,451,858 (GRCm39)	M900R	probably damaging	Het
Ppp1cb	T	A	5: 32,640,822 (GRCm39)		probably benign	Het
Pramel17	A	G	4: 101,692,570 (GRCm39)	*477Q	probably null	Het
Pros1	A	G	16: 62,734,309 (GRCm39)	T372A	possibly damaging	Het
Scara3	A	T	14: 66,168,670 (GRCm39)	S316T	probably benign	Het
Stau2	C	T	1: 16,533,352 (GRCm39)	A61T	probably damaging	Het
Stx3	T	C	19: 11,769,163 (GRCm39)	E54G	possibly damaging	Het
Sun1	T	C	5: 139,232,434 (GRCm39)		probably benign	Het
Swt1	A	T	1: 151,267,280 (GRCm39)	C634S	probably damaging	Het
Syt6	A	G	3: 103,494,842 (GRCm39)	Y269C	probably damaging	Het
Tfap2a	G	A	13: 40,870,887 (GRCm39)		probably benign	Het
Tmx4	A	T	2: 134,481,640 (GRCm39)		probably null	Het
Ttc39d	T	C	17: 80,524,375 (GRCm39)	C345R	probably damaging	Het
Vmn1r27	T	C	6: 58,192,233 (GRCm39)	Y257C	probably damaging	Het
Vmn2r27	T	A	6: 124,208,578 (GRCm39)	T56S	probably benign	Het
Vps13b	T	C	15: 35,576,674 (GRCm39)		probably null	Het
Wdr17	A	G	8: 55,088,526 (GRCm39)	S1175P	probably damaging	Het
Wsb2	T	C	5: 117,501,823 (GRCm39)	F63L	probably benign	Het
Zfp142	A	G	1: 74,607,782 (GRCm39)	Y1561H	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
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	36,141,396 (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'- AGTGATCTATGACCAGCCAGGGTG -3'
(R):5'- AGAACAGTTTCTCTCCCGACCTCAG -3'

Sequencing Primer
(F):5'- GCCAGGGTGAGGCTGAG -3'
(R):5'- AAATGCCTTCCTTAGATCCCAG -3'

Posted On

2013-04-11