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
Is this an essential gene? Probably non essential (E-score: 0.182) 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 Y319C probably benign Het
Actn4 A C 7: 28,896,141 I763S probably damaging Het
Actr8 G A 14: 29,978,589 probably null Het
Adrb1 T C 19: 56,722,904 L178P probably damaging Het
Ankrd36 A G 11: 5,687,442 E1337G probably benign Het
Arl4a A C 12: 40,036,520 V76G probably damaging Het
B230118H07Rik A T 2: 101,576,010 probably null Het
Bmp1 A T 14: 70,508,007 I246K probably damaging Het
Camk4 A T 18: 32,939,447 T18S unknown Het
Cep152 T C 2: 125,581,700 H927R probably benign Het
Clca3a2 A G 3: 144,819,357 I38T probably damaging Het
Clec2g A C 6: 128,980,273 T54P probably damaging Het
Cox20 A G 1: 178,321,797 E31G possibly damaging Het
Crispld1 T A 1: 17,753,017 H407Q probably benign Het
Csmd1 T C 8: 15,903,231 I3417V probably benign Het
Dhtkd1 A C 2: 5,910,359 H700Q probably null Het
Dnah10 G A 5: 124,770,599 V1516M probably damaging Het
Dnah10 A G 5: 124,785,175 T2165A probably damaging Het
Dock2 C G 11: 34,294,123 M1072I probably benign Het
F11 T A 8: 45,252,082 T141S probably damaging Het
Gabra6 T A 11: 42,316,523 I245F probably damaging Het
Gm13101 T A 4: 143,965,142 H337L probably benign Het
Gm8909 G A 17: 36,167,507 A211V possibly damaging Het
Herc1 T A 9: 66,433,423 C1685S possibly damaging Het
Il20 G T 1: 130,910,740 D73E probably damaging Het
Ireb2 C A 9: 54,886,527 P247Q probably damaging Het
Kcng3 T C 17: 83,588,378 I220V probably benign Het
Lce1j T G 3: 92,789,072 Q133P unknown Het
Lgals9 C T 11: 78,963,505 A287T probably benign Het
Lrrc52 A G 1: 167,466,727 probably benign Het
Map3k5 A T 10: 20,118,441 H1027L probably benign Het
Morc3 A G 16: 93,862,425 D407G possibly damaging Het
Myom1 T C 17: 71,108,695 probably null Het
Ncapg2 T C 12: 116,438,011 F673S possibly damaging Het
Ncoa6 T C 2: 155,407,448 D1312G probably damaging Het
Nkx1-1 A T 5: 33,431,051 F298I probably damaging Het
Npas2 G A 1: 39,287,476 R14Q probably damaging Het
Npas4 C T 19: 4,986,870 C422Y probably damaging Het
Olfr1230 A G 2: 89,296,421 L283S probably damaging Het
Olfr1381 T A 11: 49,552,584 I279N possibly damaging Het
Olfr481 T C 7: 108,081,286 V164A probably benign Het
Olfr749 T C 14: 50,736,619 D181G probably benign Het
Pcdhga4 T C 18: 37,686,493 I365T probably damaging Het
Pear1 T A 3: 87,759,568 T37S probably damaging Het
Pkn2 A T 3: 142,853,693 F24I probably benign Het
Plcb3 G A 19: 6,966,165 A122V probably damaging Het
Pnliprp1 T C 19: 58,730,133 probably null Het
Psmb3 T A 11: 97,712,452 F164I probably damaging Het
Ptch2 T A 4: 117,096,908 F45Y probably damaging Het
Ptpn23 C A 9: 110,387,781 probably benign Het
Pusl1 A G 4: 155,890,548 S199P probably damaging Het
Rasgrp2 C A 19: 6,402,501 L35I probably damaging Het
Rictor T C 15: 6,793,977 L1545P probably benign Het
Rtn4r A T 16: 18,151,394 M229L probably benign Het
Ruvbl1 A T 6: 88,479,125 probably null Het
Slc35b3 A T 13: 38,944,596 S30T probably damaging Het
Sorcs3 T C 19: 48,398,697 V207A possibly damaging Het
Sox13 A G 1: 133,393,267 S2P probably damaging Het
Sptbn1 A C 11: 30,137,403 L999R probably damaging Het
Taf4 A G 2: 179,913,524 V1015A probably damaging Het
Top3b T C 16: 16,891,509 L687P probably damaging Het
Tpp2 T A 1: 43,956,489 V268E probably damaging Het
Ttc6 T C 12: 57,737,616 Y1824H possibly damaging Het
Txk A G 5: 72,700,726 Y360H probably damaging Het
Vmn2r57 T C 7: 41,428,690 I115V probably benign Het
Vmn2r98 T C 17: 19,065,881 S214P possibly damaging Het
Zbtb48 T C 4: 152,022,038 probably null Het
Zzz3 A G 3: 152,427,682 I126V possibly damaging Het
Other mutations in Afap1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01397:Afap1 APN 5 35968708 missense probably damaging 0.99
IGL01730:Afap1 APN 5 35962239 missense probably damaging 1.00
IGL01798:Afap1 APN 5 35935682 critical splice donor site probably null
IGL02188:Afap1 APN 5 35936077 missense probably benign 0.00
IGL03027:Afap1 APN 5 35961750 missense probably benign 0.00
R0124:Afap1 UTSW 5 35945209 missense probably damaging 1.00
R0485:Afap1 UTSW 5 35951003 missense probably damaging 0.99
R0532:Afap1 UTSW 5 35968600 missense possibly damaging 0.86
R0891:Afap1 UTSW 5 35961852 splice site probably null
R1370:Afap1 UTSW 5 35935600 missense unknown
R1378:Afap1 UTSW 5 35968686 missense probably damaging 1.00
R1443:Afap1 UTSW 5 35968661 missense probably damaging 1.00
R1470:Afap1 UTSW 5 35961737 splice site probably benign
R1536:Afap1 UTSW 5 35974491 missense probably damaging 1.00
R2357:Afap1 UTSW 5 35984274 missense probably damaging 1.00
R4737:Afap1 UTSW 5 35961782 missense probably benign 0.03
R5251:Afap1 UTSW 5 35950892 missense probably damaging 1.00
R5918:Afap1 UTSW 5 35974525 missense possibly damaging 0.60
R5936:Afap1 UTSW 5 35974396 missense possibly damaging 0.67
R6008:Afap1 UTSW 5 35997551 missense probably damaging 0.99
R6009:Afap1 UTSW 5 35997560 missense probably damaging 1.00
R7058:Afap1 UTSW 5 35962260 missense probably benign 0.00
R7320:Afap1 UTSW 5 35948223 missense probably damaging 0.98
R7799:Afap1 UTSW 5 35974398 missense possibly damaging 0.67
R7946:Afap1 UTSW 5 35935651 missense probably benign 0.30
R7946:Afap1 UTSW 5 35984052 splice site probably null
R8358:Afap1 UTSW 5 35974486 missense probably benign 0.30
R8446:Afap1 UTSW 5 35987301 missense
R8785:Afap1 UTSW 5 35950960 nonsense probably null
R9013:Afap1 UTSW 5 35976588 missense possibly damaging 0.94
R9225:Afap1 UTSW 5 35976624 missense possibly damaging 0.46
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