Incidental Mutation 'R1536:Afap1'
ID169518
Institutional Source Beutler Lab
Gene Symbol Afap1
Ensembl Gene ENSMUSG00000029094
Gene Nameactin filament associated protein 1
Synonyms
MMRRC Submission 039575-MU
Accession Numbers
Is this an essential gene? Possibly non essential (E-score: 0.402) question?
Stock #R1536 (G1)
Quality Score225
Status Validated
Chromosome5
Chromosomal Location35893319-36003923 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) C to A at 35974491 bp
ZygosityHeterozygous
Amino Acid Change Histidine to Glutamine at position 387 (H387Q)
Ref Sequence ENSEMBL: ENSMUSP00000119364 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000064571] [ENSMUST00000141824]
Predicted Effect probably damaging
Transcript: ENSMUST00000064571
AA Change: H387Q

PolyPhen 2 Score 0.977 (Sensitivity: 0.76; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000067779
Gene: ENSMUSG00000029094
AA Change: H387Q

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: H387Q

PolyPhen 2 Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000119364
Gene: ENSMUSG00000029094
AA Change: H387Q

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 0.6467 question?
Coding Region Coverage
  • 1x: 99.0%
  • 3x: 98.0%
  • 10x: 95.3%
  • 20x: 89.5%
Validation Efficiency 98% (59/60)
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: 55 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2310003L06Rik A T 5: 87,970,665 I3F probably benign Het
4930590J08Rik A G 6: 91,917,035 N211S probably benign Het
A2ml1 A T 6: 128,547,233 Y1145* probably null Het
Abca7 A G 10: 80,014,230 D1972G probably benign Het
Adamts19 A T 18: 59,052,615 D1187V probably damaging Het
Adcy6 G C 15: 98,600,007 I421M probably damaging Het
Atp8b1 C T 18: 64,545,264 V854M probably damaging Het
Auts2 C T 5: 131,487,463 probably benign Het
Cbll1 T C 12: 31,487,856 D300G probably damaging Het
Cd200r4 A T 16: 44,833,049 T61S possibly damaging Het
Chmp4c G T 3: 10,389,684 V207L probably benign Het
Cntn5 T C 9: 9,976,316 T413A possibly damaging Het
Cox7a2 T A 9: 79,758,581 probably null Het
Cwc27 A G 13: 104,797,306 L236P probably damaging Het
Diaph1 A G 18: 37,896,093 probably null Het
Dst T A 1: 34,260,372 probably benign Het
Ear1 T A 14: 43,819,126 H95L probably damaging Het
Enpp1 T A 10: 24,641,834 H898L probably benign Het
Entpd5 G A 12: 84,382,295 R321* probably null Het
Ercc6l2 C A 13: 63,824,871 N177K possibly damaging Het
Ergic1 T C 17: 26,641,706 probably null Het
Erich6 A T 3: 58,626,598 I336N probably benign Het
Fmnl2 A G 2: 53,105,537 E424G probably damaging Het
Galnt3 A T 2: 66,084,206 D622E probably damaging Het
Gjd4 T A 18: 9,280,569 T170S probably damaging Het
Gm5611 G A 9: 17,030,607 noncoding transcript Het
Gpc5 T A 14: 115,399,250 N448K probably benign Het
Klra3 G C 6: 130,333,144 R138G probably benign Het
Man2b2 T C 5: 36,820,927 T338A probably benign Het
Mbtps1 A T 8: 119,546,125 S94T probably benign Het
Muc3a A T 5: 137,210,081 S205T unknown Het
Nav2 C A 7: 49,545,934 D1019E probably damaging Het
Neurl4 T A 11: 69,903,426 L236* probably null Het
Olfr272 A G 4: 52,911,260 V178A probably benign Het
Plcxd3 T C 15: 4,516,611 probably benign Het
Pprc1 T C 19: 46,071,526 probably benign Het
Prkaa2 T A 4: 105,075,450 N67I probably damaging Het
Prom1 T A 5: 44,018,353 Y508F probably benign Het
Prx A G 7: 27,517,258 M534V probably damaging Het
Rps6kc1 C T 1: 190,871,768 R219Q possibly damaging Het
Sbf2 T C 7: 110,378,043 Y628C probably damaging Het
Slc1a2 A T 2: 102,777,510 D501V probably benign Het
Spata31 A T 13: 64,921,382 Q448L probably damaging Het
Stk35 T C 2: 129,811,235 probably benign Het
Stxbp5 T A 10: 9,838,092 R234S probably damaging Het
Tifab A G 13: 56,176,288 V114A probably benign Het
Tiprl A G 1: 165,228,406 M49T probably benign Het
Tlr12 A G 4: 128,617,752 L235P possibly damaging Het
Tmem57 A G 4: 134,804,507 V617A probably damaging Het
Trim43b A T 9: 89,085,358 C407* probably null Het
Txndc17 C A 11: 72,207,707 F28L probably damaging Het
Vmn2r27 T C 6: 124,200,690 R452G probably damaging Het
Vmn2r3 T A 3: 64,275,117 D387V probably damaging Het
Vps13b T C 15: 35,875,566 I2699T probably damaging Het
Zfp944 G T 17: 22,339,716 Y183* probably null 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
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
R6155:Afap1 UTSW 5 35935609 missense unknown
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
Predicted Primers PCR Primer
(F):5'- TCCCGTGTAGACACCAAGGAGATG -3'
(R):5'- TGTACACCTCTCTGGATAGCAGCC -3'

Sequencing Primer
(F):5'- AAACTGGTCCTGATACCGTG -3'
(R):5'- TAGCAGCCCCAGGGAAG -3'
Posted On2014-04-13