Incidental Mutation 'R1378:Afap1'
ID 162936
Institutional Source Beutler Lab
Gene Symbol Afap1
Ensembl Gene ENSMUSG00000029094
Gene Name actin filament associated protein 1
Synonyms 9630044L16Rik, 2600003E23Rik
MMRRC Submission 039442-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.161) question?
Stock # R1378 (G1)
Quality Score 225
Status Validated
Chromosome 5
Chromosomal Location 36050713-36161267 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 36126030 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Alanine at position 342 (T342A)
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: T342A

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000067779
Gene: ENSMUSG00000029094
AA Change: T342A

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: T342A

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000119364
Gene: ENSMUSG00000029094
AA Change: T342A

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 0.1670 question?
Coding Region Coverage
  • 1x: 98.9%
  • 3x: 98.0%
  • 10x: 95.3%
  • 20x: 89.3%
Validation Efficiency 100% (57/57)
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: 50 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Alg1 A G 16: 5,061,580 (GRCm39) N406D probably damaging Het
Atp13a4 A T 16: 29,239,246 (GRCm39) M825K probably damaging Het
Birc6 T A 17: 74,967,450 (GRCm39) I4117K probably damaging Het
Brinp2 A T 1: 158,074,624 (GRCm39) L499Q possibly damaging Het
Brwd1 A T 16: 95,842,570 (GRCm39) V789D probably benign Het
Ccdc153 C G 9: 44,154,958 (GRCm39) L94V probably null Het
Ccna1 A G 3: 54,957,150 (GRCm39) V237A probably damaging Het
Cct7 T A 6: 85,444,545 (GRCm39) probably null Het
Cenpb C T 2: 131,020,230 (GRCm39) probably benign Het
Chrne T A 11: 70,505,956 (GRCm39) probably null Het
Clstn3 T A 6: 124,415,378 (GRCm39) D662V probably damaging Het
Clu G T 14: 66,212,350 (GRCm39) C189F probably damaging Het
Cstdc5 A G 16: 36,179,929 (GRCm39) C63R probably benign Het
Cul7 C T 17: 46,973,052 (GRCm39) R1388C probably damaging Het
Dgka T C 10: 128,571,696 (GRCm39) probably null Het
Dop1b A G 16: 93,567,280 (GRCm39) T1236A probably benign Het
Edn2 A G 4: 120,019,095 (GRCm39) E28G probably benign Het
Elp3 T C 14: 65,830,380 (GRCm39) I24V probably benign Het
Faap24 T C 7: 35,092,326 (GRCm39) E197G probably benign Het
Fam13a T A 6: 58,933,736 (GRCm39) M285L probably benign Het
Gm9944 T A 4: 144,179,773 (GRCm39) probably benign Het
Gsdmc3 T C 15: 63,731,435 (GRCm39) probably benign Het
Gvin3 T A 7: 106,201,373 (GRCm39) I624F probably damaging Het
Ift22 A C 5: 136,941,757 (GRCm39) K133T probably benign Het
Il23r T A 6: 67,429,394 (GRCm39) K316I possibly damaging Het
Klra17 T A 6: 129,842,647 (GRCm39) E217V probably damaging Het
Nell2 A T 15: 95,130,402 (GRCm39) V657E probably damaging Het
Nlrp4d C A 7: 10,098,111 (GRCm39) K850N probably benign Het
Nsmce4a C T 7: 130,139,900 (GRCm39) R276Q probably benign Het
Or10d4 T C 9: 39,580,962 (GRCm39) L203P probably damaging Het
Or4p8 T A 2: 88,727,370 (GRCm39) R190S probably benign Het
Or52s1b T C 7: 102,822,475 (GRCm39) D123G probably damaging Het
Or52z14 A T 7: 103,253,145 (GRCm39) R95* probably null Het
Pclo T C 5: 14,732,327 (GRCm39) S3610P probably benign Het
Pon3 T G 6: 5,230,813 (GRCm39) D238A probably benign Het
Ppp4r4 T C 12: 103,547,751 (GRCm39) probably benign Het
Rad18 T C 6: 112,658,297 (GRCm39) probably benign Het
Ralgapa1 T C 12: 55,723,711 (GRCm39) Y1652C probably damaging Het
Rem1 G A 2: 152,476,455 (GRCm39) V238M probably damaging Het
Sel1l T C 12: 91,799,871 (GRCm39) probably null Het
Soat1 A G 1: 156,294,352 (GRCm39) probably benign Het
Tex15 A T 8: 34,065,244 (GRCm39) N1558I probably damaging Het
Tmem132d A T 5: 128,346,011 (GRCm39) F170L probably benign Het
Tro G T X: 149,438,567 (GRCm39) P30Q probably damaging Het
Tubg2 G T 11: 101,047,699 (GRCm39) E95* probably null Het
Unc45b G A 11: 82,827,678 (GRCm39) S725N probably benign Het
Vmn2r7 A G 3: 64,599,025 (GRCm39) S511P possibly damaging Het
Vps35l G T 7: 118,393,795 (GRCm39) E515* probably null Het
Vps35l A T 7: 118,393,796 (GRCm39) E515V probably damaging Het
Zfp174 G A 16: 3,667,353 (GRCm39) E181K probably benign 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
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'- CGCTGTGACATTCCCACTTAACACC -3'
(R):5'- GTGTGACCCAAAGGAGACTCAGTTC -3'

Sequencing Primer
(F):5'- CACCAATGGTTAAGACACACTTTTG -3'
(R):5'- CCTGTGTCCAAGTCTGGAAAC -3'
Posted On 2014-03-17