Incidental Mutation 'IGL01397:Afap1'
ID79508
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Afap1
Ensembl Gene ENSMUSG00000029094
Gene Nameactin filament associated protein 1
Synonyms
Accession Numbers
Is this an essential gene? Possibly non essential (E-score: 0.478) question?
Stock #IGL01397
Quality Score
Status
Chromosome5
Chromosomal Location35893319-36003923 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to A at 35968708 bp
ZygosityHeterozygous
Amino Acid Change Valine to Glutamic Acid at position 349 (V349E)
Ref Sequence ENSEMBL: ENSMUSP00000067779 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000064571] [ENSMUST00000141824]
Predicted Effect probably damaging
Transcript: ENSMUST00000064571
AA Change: V349E

PolyPhen 2 Score 0.986 (Sensitivity: 0.74; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000067779
Gene: ENSMUSG00000029094
AA Change: V349E

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: V349E

PolyPhen 2 Score 0.974 (Sensitivity: 0.76; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000119364
Gene: ENSMUSG00000029094
AA Change: V349E

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
Coding Region Coverage
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: 47 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acoxl A C 2: 128,034,891 T436P possibly damaging Het
Arfgef1 C T 1: 10,159,571 V1302I probably benign Het
Atp11a T A 8: 12,812,321 W58R probably damaging Het
Brpf3 A T 17: 28,817,632 K670N probably benign Het
Cd4 G A 6: 124,879,378 T50I probably benign Het
Cenpp T C 13: 49,641,283 D136G probably damaging Het
Cep85 T C 4: 134,156,206 E124G probably damaging Het
Crybb3 T C 5: 113,079,835 E40G probably damaging Het
Dennd2d G T 3: 106,487,049 probably null Het
Dhx34 A G 7: 16,210,543 L582P probably damaging Het
Dst A G 1: 34,257,744 K5738R probably damaging Het
Eif4g1 T A 16: 20,679,675 L328Q probably damaging Het
Eya4 T C 10: 23,139,999 K357E probably benign Het
F8 A G X: 75,379,539 S25P probably benign Het
Fam122b G A X: 53,260,211 T121I probably damaging Het
Fgd2 A G 17: 29,367,975 E293G probably damaging Het
Foxi1 T A 11: 34,207,599 Q142L probably damaging Het
Gfm1 A G 3: 67,443,658 E316G probably benign Het
Glb1l3 C T 9: 26,825,195 D524N probably benign Het
Heatr5a A T 12: 51,894,369 V1366D possibly damaging Het
Idh1 T C 1: 65,168,595 T142A possibly damaging Het
Lamc1 C A 1: 153,251,134 G422V probably damaging Het
Lars A T 18: 42,228,029 H691Q probably damaging Het
Ltbp2 T C 12: 84,790,268 Y1259C probably damaging Het
Muc19 T A 15: 91,894,304 noncoding transcript Het
Nphs1 A G 7: 30,486,664 D1240G probably benign Het
Olfr1134 A T 2: 87,656,905 N5K probably damaging Het
Olfr401 T A 11: 74,121,764 N158K probably damaging Het
Parp14 T C 16: 35,858,728 N290S probably benign Het
Pex5l G A 3: 32,952,597 T541I probably damaging Het
Plch1 A C 3: 63,731,729 probably null Het
Ppp4r3b C T 11: 29,213,594 A722V probably benign Het
Ptges3 T C 10: 128,070,200 S85P probably benign Het
R3hdm2 C T 10: 127,458,850 R201W probably damaging Het
Rcan2 C A 17: 43,836,468 Q66K possibly damaging Het
Skint4 A G 4: 112,120,010 N199S possibly damaging Het
Smc4 A G 3: 69,031,544 T951A probably benign Het
Smg1 A T 7: 118,163,221 probably benign Het
Snx30 T C 4: 59,894,526 V368A probably benign Het
Spata31d1a C T 13: 59,701,738 A859T probably damaging Het
Tg G A 15: 66,696,092 probably benign Het
Tmem132b T C 5: 125,698,728 V422A probably benign Het
Tnxb T C 17: 34,714,673 S2356P probably damaging Het
Vmn1r122 A G 7: 21,133,782 V116A possibly damaging Het
Washc2 A G 6: 116,247,998 D683G probably benign Het
Wdr35 C A 12: 9,008,550 T580K probably benign Het
Wwc2 T A 8: 47,868,276 N601I unknown Het
Other mutations in Afap1
AlleleSourceChrCoordTypePredicted EffectPPH Score
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
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
Posted On2013-11-05