Incidental Mutation 'R6155:Afap1'
ID 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
Essential gene? Probably non essential (E-score: 0.121) question?
Stock # R6155 (G1)
Quality Score 225.009
Status Not validated
Chromosome 5
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

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 unknown
Transcript: ENSMUST00000141824
AA Change: Y19C
SMART Domains Protein: ENSMUSP00000119364
Gene: ENSMUSG00000029094
AA Change: Y19C

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
Meta Mutation Damage Score 0.0601 question?
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
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcg3 T C 5: 104,963,644 (GRCm38) Y319C probably benign Het
Actn4 A C 7: 28,896,141 (GRCm38) I763S probably damaging Het
Actr8 G A 14: 29,978,589 (GRCm38) probably null Het
Adrb1 T C 19: 56,722,904 (GRCm38) L178P probably damaging Het
Ankrd36 A G 11: 5,687,442 (GRCm38) E1337G probably benign Het
Arl4a A C 12: 40,036,520 (GRCm38) V76G probably damaging Het
B230118H07Rik A T 2: 101,576,010 (GRCm38) probably null Het
Bmp1 A T 14: 70,508,007 (GRCm38) I246K probably damaging Het
Camk4 A T 18: 32,939,447 (GRCm38) T18S unknown Het
Cep152 T C 2: 125,581,700 (GRCm38) H927R probably benign Het
Clca3a2 A G 3: 144,819,357 (GRCm38) I38T probably damaging Het
Clec2g A C 6: 128,980,273 (GRCm38) T54P probably damaging Het
Cox20 A G 1: 178,321,797 (GRCm38) E31G possibly damaging Het
Crispld1 T A 1: 17,753,017 (GRCm38) H407Q probably benign Het
Csmd1 T C 8: 15,903,231 (GRCm38) I3417V probably benign Het
Dhtkd1 A C 2: 5,910,359 (GRCm38) H700Q probably null Het
Dnah10 A G 5: 124,785,175 (GRCm38) T2165A probably damaging Het
Dnah10 G A 5: 124,770,599 (GRCm38) V1516M probably damaging Het
Dock2 C G 11: 34,294,123 (GRCm38) M1072I probably benign Het
F11 T A 8: 45,252,082 (GRCm38) T141S probably damaging Het
Gabra6 T A 11: 42,316,523 (GRCm38) I245F probably damaging Het
Gm13101 T A 4: 143,965,142 (GRCm38) H337L probably benign Het
Gm8909 G A 17: 36,167,507 (GRCm38) A211V possibly damaging Het
Herc1 T A 9: 66,433,423 (GRCm38) C1685S possibly damaging Het
Il20 G T 1: 130,910,740 (GRCm38) D73E probably damaging Het
Ireb2 C A 9: 54,886,527 (GRCm38) P247Q probably damaging Het
Kcng3 T C 17: 83,588,378 (GRCm38) I220V probably benign Het
Lce1j T G 3: 92,789,072 (GRCm38) Q133P unknown Het
Lgals9 C T 11: 78,963,505 (GRCm38) A287T probably benign Het
Lrrc52 A G 1: 167,466,727 (GRCm38) probably benign Het
Map3k5 A T 10: 20,118,441 (GRCm38) H1027L probably benign Het
Morc3 A G 16: 93,862,425 (GRCm38) D407G possibly damaging Het
Myom1 T C 17: 71,108,695 (GRCm38) probably null Het
Ncapg2 T C 12: 116,438,011 (GRCm38) F673S possibly damaging Het
Ncoa6 T C 2: 155,407,448 (GRCm38) D1312G probably damaging Het
Nkx1-1 A T 5: 33,431,051 (GRCm38) F298I probably damaging Het
Npas2 G A 1: 39,287,476 (GRCm38) R14Q probably damaging Het
Npas4 C T 19: 4,986,870 (GRCm38) C422Y probably damaging Het
Olfr1230 A G 2: 89,296,421 (GRCm38) L283S probably damaging Het
Olfr1381 T A 11: 49,552,584 (GRCm38) I279N possibly damaging Het
Olfr481 T C 7: 108,081,286 (GRCm38) V164A probably benign Het
Olfr749 T C 14: 50,736,619 (GRCm38) D181G probably benign Het
Pcdhga4 T C 18: 37,686,493 (GRCm38) I365T probably damaging Het
Pear1 T A 3: 87,759,568 (GRCm38) T37S probably damaging Het
Pkn2 A T 3: 142,853,693 (GRCm38) F24I probably benign Het
Plcb3 G A 19: 6,966,165 (GRCm38) A122V probably damaging Het
Pnliprp1 T C 19: 58,730,133 (GRCm38) probably null Het
Psmb3 T A 11: 97,712,452 (GRCm38) F164I probably damaging Het
Ptch2 T A 4: 117,096,908 (GRCm38) F45Y probably damaging Het
Ptpn23 C A 9: 110,387,781 (GRCm38) probably benign Het
Pusl1 A G 4: 155,890,548 (GRCm38) S199P probably damaging Het
Rasgrp2 C A 19: 6,402,501 (GRCm38) L35I probably damaging Het
Rictor T C 15: 6,793,977 (GRCm38) L1545P probably benign Het
Rtn4r A T 16: 18,151,394 (GRCm38) M229L probably benign Het
Ruvbl1 A T 6: 88,479,125 (GRCm38) probably null Het
Slc35b3 A T 13: 38,944,596 (GRCm38) S30T probably damaging Het
Sorcs3 T C 19: 48,398,697 (GRCm38) V207A possibly damaging Het
Sox13 A G 1: 133,393,267 (GRCm38) S2P probably damaging Het
Sptbn1 A C 11: 30,137,403 (GRCm38) L999R probably damaging Het
Taf4 A G 2: 179,913,524 (GRCm38) V1015A probably damaging Het
Top3b T C 16: 16,891,509 (GRCm38) L687P probably damaging Het
Tpp2 T A 1: 43,956,489 (GRCm38) V268E probably damaging Het
Ttc6 T C 12: 57,737,616 (GRCm38) Y1824H possibly damaging Het
Txk A G 5: 72,700,726 (GRCm38) Y360H probably damaging Het
Vmn2r57 T C 7: 41,428,690 (GRCm38) I115V probably benign Het
Vmn2r98 T C 17: 19,065,881 (GRCm38) S214P possibly damaging Het
Zbtb48 T C 4: 152,022,038 (GRCm38) probably null Het
Zzz3 A G 3: 152,427,682 (GRCm38) I126V possibly damaging Het
Other mutations in Afap1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01397:Afap1 APN 5 35,968,708 (GRCm38) missense probably damaging 0.99
IGL01730:Afap1 APN 5 35,962,239 (GRCm38) missense probably damaging 1.00
IGL01798:Afap1 APN 5 35,935,682 (GRCm38) critical splice donor site probably null
IGL02188:Afap1 APN 5 35,936,077 (GRCm38) missense probably benign 0.00
IGL03027:Afap1 APN 5 35,961,750 (GRCm38) missense probably benign 0.00
R0124:Afap1 UTSW 5 35,945,209 (GRCm38) missense probably damaging 1.00
R0485:Afap1 UTSW 5 35,951,003 (GRCm38) missense probably damaging 0.99
R0532:Afap1 UTSW 5 35,968,600 (GRCm38) missense possibly damaging 0.86
R0891:Afap1 UTSW 5 35,961,852 (GRCm38) splice site probably null
R1370:Afap1 UTSW 5 35,935,600 (GRCm38) missense unknown
R1378:Afap1 UTSW 5 35,968,686 (GRCm38) missense probably damaging 1.00
R1443:Afap1 UTSW 5 35,968,661 (GRCm38) missense probably damaging 1.00
R1470:Afap1 UTSW 5 35,961,737 (GRCm38) splice site probably benign
R1536:Afap1 UTSW 5 35,974,491 (GRCm38) missense probably damaging 1.00
R2357:Afap1 UTSW 5 35,984,274 (GRCm38) missense probably damaging 1.00
R4737:Afap1 UTSW 5 35,961,782 (GRCm38) missense probably benign 0.03
R5251:Afap1 UTSW 5 35,950,892 (GRCm38) missense probably damaging 1.00
R5918:Afap1 UTSW 5 35,974,525 (GRCm38) missense possibly damaging 0.60
R5936:Afap1 UTSW 5 35,974,396 (GRCm38) missense possibly damaging 0.67
R6008:Afap1 UTSW 5 35,997,551 (GRCm38) missense probably damaging 0.99
R6009:Afap1 UTSW 5 35,997,560 (GRCm38) missense probably damaging 1.00
R7058:Afap1 UTSW 5 35,962,260 (GRCm38) missense probably benign 0.00
R7320:Afap1 UTSW 5 35,948,223 (GRCm38) missense probably damaging 0.98
R7799:Afap1 UTSW 5 35,974,398 (GRCm38) missense possibly damaging 0.67
R7946:Afap1 UTSW 5 35,984,052 (GRCm38) splice site probably null
R7946:Afap1 UTSW 5 35,935,651 (GRCm38) missense probably benign 0.30
R8358:Afap1 UTSW 5 35,974,486 (GRCm38) missense probably benign 0.30
R8446:Afap1 UTSW 5 35,987,301 (GRCm38) missense
R8785:Afap1 UTSW 5 35,950,960 (GRCm38) nonsense probably null
R9013:Afap1 UTSW 5 35,976,588 (GRCm38) missense possibly damaging 0.94
R9225:Afap1 UTSW 5 35,976,624 (GRCm38) missense possibly damaging 0.46
R9711:Afap1 UTSW 5 35,984,196 (GRCm38) missense probably damaging 1.00
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