Incidental Mutation 'R2357:Afap1'
ID 247427
Institutional Source Beutler Lab
Gene Symbol Afap1
Ensembl Gene ENSMUSG00000029094
Gene Name actin filament associated protein 1
Synonyms 9630044L16Rik, 2600003E23Rik
MMRRC Submission 040339-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.161) question?
Stock # R2357 (G1)
Quality Score 225
Status Validated
Chromosome 5
Chromosomal Location 36050713-36161267 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to T at 36141618 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Histidine to Tyrosine at position 501 (H501Y)
Ref Sequence ENSEMBL: ENSMUSP00000119364 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000064571] [ENSMUST00000141824]
AlphaFold Q80YS6
Predicted Effect possibly damaging
Transcript: ENSMUST00000064571
AA Change: H501Y

PolyPhen 2 Score 0.763 (Sensitivity: 0.85; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000067779
Gene: ENSMUSG00000029094
AA Change: H501Y

DomainStartEndE-ValueType
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: H501Y

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000119364
Gene: ENSMUSG00000029094
AA Change: H501Y

DomainStartEndE-ValueType
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 noncoding transcript
Transcript: ENSMUST00000201482
Predicted Effect unknown
Transcript: ENSMUST00000212374
AA Change: H29Y
Meta Mutation Damage Score 0.1143 question?
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.4%
  • 10x: 96.8%
  • 20x: 93.3%
Validation Efficiency 97% (66/68)
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: 66 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4932414N04Rik C A 2: 68,569,844 (GRCm39) T520K possibly damaging Het
Abca13 T C 11: 9,247,336 (GRCm39) L2361P probably damaging Het
Acsl6 T A 11: 54,218,106 (GRCm39) M248K probably damaging Het
Adam11 G T 11: 102,665,334 (GRCm39) V467L probably benign Het
Ankrd28 A T 14: 31,486,251 (GRCm39) Y22* probably null Het
Ccdc124 A T 8: 71,321,179 (GRCm39) L187Q probably damaging Het
Cdc42bpa G A 1: 179,894,792 (GRCm39) S324N possibly damaging Het
Cgnl1 T A 9: 71,632,950 (GRCm39) K134* probably null Het
Cnpy3 G T 17: 47,062,909 (GRCm39) S47R probably damaging Het
Cpne8 A T 15: 90,503,877 (GRCm39) L96Q probably damaging Het
Crisp3 A T 17: 40,533,396 (GRCm39) Y212N probably damaging Het
Cryba1 A T 11: 77,613,427 (GRCm39) probably benign Het
Cyc1 A G 15: 76,229,766 (GRCm39) M288V possibly damaging Het
Dnah8 T A 17: 30,990,846 (GRCm39) D3296E probably benign Het
Dnah8 A G 17: 31,093,909 (GRCm39) T4668A probably benign Het
Dnajb6 T A 5: 29,958,638 (GRCm39) F113I probably damaging Het
Dync2h1 A G 9: 7,081,053 (GRCm39) I2881T probably benign Het
Eps8l1 T C 7: 4,473,354 (GRCm39) S179P probably benign Het
Esco2 C A 14: 66,064,000 (GRCm39) A395S probably benign Het
Evi5l T C 8: 4,243,113 (GRCm39) probably benign Het
Exoc6b T C 6: 84,966,321 (GRCm39) T218A possibly damaging Het
Gde1 A T 7: 118,290,814 (GRCm39) F170L probably benign Het
Ggt5 A C 10: 75,445,075 (GRCm39) I361L probably benign Het
Golga3 C T 5: 110,350,514 (GRCm39) T683M probably damaging Het
Golgb1 A G 16: 36,732,370 (GRCm39) Q539R probably damaging Het
Grm2 A G 9: 106,524,780 (GRCm39) V645A probably damaging Het
Gtf2h4 A T 17: 35,978,891 (GRCm39) V408D probably damaging Het
Gucy1a2 A T 9: 3,797,299 (GRCm39) H583L probably damaging Het
Hivep2 C T 10: 14,019,043 (GRCm39) A1938V probably benign Het
Iars1 T C 13: 49,841,679 (GRCm39) Y56H probably damaging Het
Il17re A G 6: 113,445,431 (GRCm39) I381V possibly damaging Het
Klrd1 T A 6: 129,573,872 (GRCm39) *71K probably null Het
Kng1 A T 16: 22,897,815 (GRCm39) Y405F possibly damaging Het
Kptn G T 7: 15,859,709 (GRCm39) C311F probably damaging Het
Lama5 T C 2: 179,821,890 (GRCm39) I2982V probably benign Het
Mamstr G T 7: 45,291,754 (GRCm39) D35Y probably damaging Het
Mdc1 A G 17: 36,158,337 (GRCm39) D239G probably benign Het
Mindy3 T G 2: 12,408,987 (GRCm39) probably benign Het
Mrpl39 A T 16: 84,524,452 (GRCm39) H204Q probably benign Het
Myo16 G A 8: 10,644,905 (GRCm39) D1746N possibly damaging Het
Myo5a T A 9: 75,108,647 (GRCm39) M1476K probably damaging Het
Nol4 A G 18: 23,172,967 (GRCm39) S45P probably benign Het
Nol8 T C 13: 49,807,980 (GRCm39) probably null Het
Or4f61 A G 2: 111,922,743 (GRCm39) I101T possibly damaging Het
Or5d18 A T 2: 87,865,028 (GRCm39) W152R probably damaging Het
Or6c207 C A 10: 129,104,642 (GRCm39) K183N probably benign Het
Or8b56 T C 9: 38,739,634 (GRCm39) S216P probably benign Het
Plau T A 14: 20,888,683 (GRCm39) V100D probably damaging Het
Plpp7 T C 2: 31,999,654 (GRCm39) V6A probably benign Het
Prr14 T C 7: 127,074,535 (GRCm39) S356P probably benign Het
Rabl3 A G 16: 37,362,293 (GRCm39) D44G probably null Het
Rasa4 T C 5: 136,120,101 (GRCm39) V59A probably damaging Het
Rbm46 A T 3: 82,771,765 (GRCm39) D283E probably benign Het
Rictor A T 15: 6,813,043 (GRCm39) N932I probably damaging Het
Rpl9-ps6 A G 19: 32,443,743 (GRCm39) V70A probably benign Het
S100a7l2 A T 3: 90,995,733 (GRCm39) S56R probably benign Het
St3gal1 A G 15: 66,985,631 (GRCm39) Y8H probably benign Het
Strn G A 17: 78,963,028 (GRCm39) T745I probably damaging Het
Tbx15 C T 3: 99,223,672 (GRCm39) probably null Het
Tbx20 T A 9: 24,681,072 (GRCm39) D140V possibly damaging Het
Ttn A C 2: 76,666,923 (GRCm39) Y42* probably null Het
Usp9y G A Y: 1,394,050 (GRCm39) T560I possibly damaging Het
Vmn2r111 A G 17: 22,778,151 (GRCm39) probably benign Het
Vps13d GG GGGGGG 4: 144,801,547 (GRCm39) probably null Het
Wfdc12 A T 2: 164,032,170 (GRCm39) I40N probably damaging Het
Zfp78 G A 7: 6,382,056 (GRCm39) G369R probably damaging Het
Other mutations in Afap1
AlleleSourceChrCoordTypePredicted EffectPPH 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
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'- CAGTCCCTTTAAGATGCCGC -3'
(R):5'- TCTACGAGGGGTCACAAGAC -3'

Sequencing Primer
(F):5'- TTAAGATGCCGCTGCCTAAG -3'
(R):5'- AGACCTGATGCTCATGTCAG -3'
Posted On 2014-11-11