Incidental Mutation 'IGL03060:Afap1l2'
ID409407
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Afap1l2
Ensembl Gene ENSMUSG00000025083
Gene Nameactin filament associated protein 1-like 2
Synonyms
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.100) question?
Stock #IGL03060
Quality Score
Status
Chromosome19
Chromosomal Location56912361-57008228 bp(-) (GRCm38)
Type of Mutationnonsense
DNA Base Change (assembly) G to A at 56914250 bp
ZygosityHeterozygous
Amino Acid Change Glutamine to Stop codon at position 720 (Q720*)
Ref Sequence ENSEMBL: ENSMUSP00000112387 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000026068] [ENSMUST00000111584] [ENSMUST00000118800] [ENSMUST00000122359]
Predicted Effect probably benign
Transcript: ENSMUST00000026068
SMART Domains Protein: ENSMUSP00000026068
Gene: ENSMUSG00000025082

DomainStartEndE-ValueType
signal peptide 1 23 N/A INTRINSIC
VWA 49 222 6.9e-35 SMART
EGF 297 332 2.99e-4 SMART
VWA 340 517 1.26e-28 SMART
VWA 528 705 1.55e-37 SMART
EGF 714 747 5e-6 SMART
Predicted Effect probably null
Transcript: ENSMUST00000111584
AA Change: Q794*
SMART Domains Protein: ENSMUSP00000107210
Gene: ENSMUSG00000025083
AA Change: Q794*

DomainStartEndE-ValueType
Blast:PH 30 153 3e-60 BLAST
low complexity region 160 170 N/A INTRINSIC
PH 194 291 9.27e-9 SMART
PH 372 467 3.11e-10 SMART
low complexity region 531 543 N/A INTRINSIC
low complexity region 611 626 N/A INTRINSIC
coiled coil region 675 772 N/A INTRINSIC
low complexity region 791 804 N/A INTRINSIC
Predicted Effect probably null
Transcript: ENSMUST00000118800
AA Change: Q776*
SMART Domains Protein: ENSMUSP00000113745
Gene: ENSMUSG00000025083
AA Change: Q776*

DomainStartEndE-ValueType
Blast:PH 12 135 3e-60 BLAST
low complexity region 142 152 N/A INTRINSIC
PH 176 273 9.27e-9 SMART
PH 354 449 3.11e-10 SMART
low complexity region 513 525 N/A INTRINSIC
low complexity region 593 608 N/A INTRINSIC
coiled coil region 657 754 N/A INTRINSIC
low complexity region 773 786 N/A INTRINSIC
Predicted Effect probably null
Transcript: ENSMUST00000122359
AA Change: Q720*
SMART Domains Protein: ENSMUSP00000112387
Gene: ENSMUSG00000025083
AA Change: Q720*

DomainStartEndE-ValueType
Blast:PH 1 79 3e-32 BLAST
low complexity region 86 96 N/A INTRINSIC
PH 120 217 9.27e-9 SMART
PH 298 393 3.11e-10 SMART
low complexity region 457 469 N/A INTRINSIC
low complexity region 537 552 N/A INTRINSIC
coiled coil region 601 698 N/A INTRINSIC
low complexity region 717 730 N/A INTRINSIC
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 33 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Amph A G 13: 19,094,814 E153G probably damaging Het
Atad2 T C 15: 58,122,446 probably benign Het
Cep152 C T 2: 125,619,987 probably benign Het
Cntn2 C T 1: 132,528,940 V123I probably benign Het
Dhrs2 C A 14: 55,237,318 Q137K probably benign Het
Fam124a A G 14: 62,605,904 Y287C probably benign Het
Fam214a A G 9: 75,010,168 D683G probably damaging Het
Flg2 C T 3: 93,203,613 R983W unknown Het
Gm9637 G A 14: 19,402,173 noncoding transcript Het
Helz2 A G 2: 181,229,222 probably null Het
Iars G A 13: 49,690,447 probably null Het
Igll1 A T 16: 16,862,427 probably null Het
Iqch A G 9: 63,524,914 Y361H probably damaging Het
Lrp1b A T 2: 40,637,753 H105Q probably benign Het
Mapk6 A G 9: 75,397,802 M111T probably damaging Het
Mettl11b T C 1: 163,717,123 D97G probably damaging Het
Mkl1 G A 15: 81,045,322 R27W probably damaging Het
Mt1 T A 8: 94,179,894 probably benign Het
Myh7b A T 2: 155,632,751 D1768V probably damaging Het
Myo6 A T 9: 80,260,877 Q441L probably benign Het
Nt5c3b A T 11: 100,436,219 Y84N probably damaging Het
Olfr389 A G 11: 73,776,463 F288S probably damaging Het
Paxx A G 2: 25,460,184 L137P probably damaging Het
Ptprz1 T C 6: 22,972,835 V248A probably damaging Het
Rif1 T A 2: 52,112,137 C1868S probably damaging Het
Sec23a A T 12: 58,986,105 C403S probably benign Het
Skint4 G A 4: 112,118,235 V131I probably benign Het
Sugp2 T C 8: 70,243,187 V270A possibly damaging Het
Tmed9 A G 13: 55,595,508 D151G possibly damaging Het
Tubgcp4 A G 2: 121,176,590 probably benign Het
Uaca A G 9: 60,869,866 R512G probably damaging Het
Unc80 A G 1: 66,637,010 Y1999C possibly damaging Het
Vwf T A 6: 125,663,560 C2320S probably damaging Het
Other mutations in Afap1l2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00424:Afap1l2 APN 19 57002308 splice site probably benign
IGL01012:Afap1l2 APN 19 56930261 missense probably damaging 0.98
IGL01089:Afap1l2 APN 19 56913411 splice site probably null
IGL01150:Afap1l2 APN 19 56930186 missense probably damaging 0.99
IGL02393:Afap1l2 APN 19 56914440 missense probably damaging 1.00
IGL02887:Afap1l2 APN 19 56920563 missense probably damaging 1.00
R0102:Afap1l2 UTSW 19 56928440 unclassified probably benign
R0102:Afap1l2 UTSW 19 56928440 unclassified probably benign
R0282:Afap1l2 UTSW 19 56916221 missense possibly damaging 0.65
R0388:Afap1l2 UTSW 19 56917242 splice site probably benign
R0432:Afap1l2 UTSW 19 56917119 splice site probably benign
R0497:Afap1l2 UTSW 19 56930209 missense probably benign 0.27
R0578:Afap1l2 UTSW 19 56915782 missense probably benign 0.04
R0631:Afap1l2 UTSW 19 56916085 missense probably benign 0.39
R0670:Afap1l2 UTSW 19 56915803 missense probably damaging 1.00
R1188:Afap1l2 UTSW 19 56925069 missense probably damaging 0.97
R1236:Afap1l2 UTSW 19 56916472 missense possibly damaging 0.64
R1274:Afap1l2 UTSW 19 56914563 missense probably benign 0.02
R1463:Afap1l2 UTSW 19 56930151 missense probably benign 0.01
R1497:Afap1l2 UTSW 19 56928311 missense probably benign 0.25
R1597:Afap1l2 UTSW 19 56914449 missense probably benign 0.14
R1778:Afap1l2 UTSW 19 56916206 missense possibly damaging 0.68
R1795:Afap1l2 UTSW 19 56928409 missense probably damaging 1.00
R1991:Afap1l2 UTSW 19 57002267 missense possibly damaging 0.62
R2113:Afap1l2 UTSW 19 56913389 missense possibly damaging 0.95
R2242:Afap1l2 UTSW 19 56914468 missense possibly damaging 0.56
R3429:Afap1l2 UTSW 19 56915806 missense probably damaging 1.00
R3430:Afap1l2 UTSW 19 56915806 missense probably damaging 1.00
R3698:Afap1l2 UTSW 19 56916523 missense possibly damaging 0.69
R4706:Afap1l2 UTSW 19 56937240 missense possibly damaging 0.76
R4956:Afap1l2 UTSW 19 56943447 missense probably benign 0.00
R4993:Afap1l2 UTSW 19 56918040 missense probably damaging 1.00
R5772:Afap1l2 UTSW 19 56922974 missense probably benign 0.02
R5878:Afap1l2 UTSW 19 56915675 missense probably benign 0.01
R6194:Afap1l2 UTSW 19 56922951 missense probably damaging 1.00
R6226:Afap1l2 UTSW 19 56916128 missense probably benign 0.00
R6334:Afap1l2 UTSW 19 56917976 unclassified probably null
R6439:Afap1l2 UTSW 19 56928386 missense possibly damaging 0.91
R7332:Afap1l2 UTSW 19 56918121 missense probably damaging 1.00
R7524:Afap1l2 UTSW 19 56918111 missense not run
X0062:Afap1l2 UTSW 19 56918033 missense probably damaging 1.00
Posted On2016-08-02