Incidental Mutation 'IGL01150:Afap1l2'
ID53307
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 #IGL01150
Quality Score
Status
Chromosome19
Chromosomal Location56912361-57008228 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to C at 56930186 bp
ZygosityHeterozygous
Amino Acid Change Tyrosine to Cysteine at position 105 (Y105C)
Ref Sequence ENSEMBL: ENSMUSP00000123400 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000111584] [ENSMUST00000118800] [ENSMUST00000122359] [ENSMUST00000126964] [ENSMUST00000148049] [ENSMUST00000225394]
Predicted Effect probably damaging
Transcript: ENSMUST00000111584
AA Change: Y179C

PolyPhen 2 Score 0.992 (Sensitivity: 0.70; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000107210
Gene: ENSMUSG00000025083
AA Change: Y179C

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 damaging
Transcript: ENSMUST00000118800
AA Change: Y161C

PolyPhen 2 Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000113745
Gene: ENSMUSG00000025083
AA Change: Y161C

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 damaging
Transcript: ENSMUST00000122359
AA Change: Y105C

PolyPhen 2 Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000112387
Gene: ENSMUSG00000025083
AA Change: Y105C

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
Predicted Effect probably damaging
Transcript: ENSMUST00000126964
AA Change: Y105C

PolyPhen 2 Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000123400
Gene: ENSMUSG00000025083
AA Change: Y105C

DomainStartEndE-ValueType
Blast:PH 1 79 5e-36 BLAST
low complexity region 86 96 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000148049
AA Change: Y105C

PolyPhen 2 Score 0.977 (Sensitivity: 0.76; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000120490
Gene: ENSMUSG00000025083
AA Change: Y105C

DomainStartEndE-ValueType
Blast:PH 1 79 2e-34 BLAST
low complexity region 86 96 N/A INTRINSIC
PH 120 217 9.27e-9 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000155467
Predicted Effect probably benign
Transcript: ENSMUST00000225394
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 40 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcb1a A G 5: 8,702,550 D507G possibly damaging Het
Actl6a A G 3: 32,712,164 I60V probably benign Het
Adra2c T C 5: 35,281,141 F419S probably damaging Het
Arid4b C T 13: 14,195,374 Q1152* probably null Het
Arsj A G 3: 126,438,784 D393G probably benign Het
Avp T C 2: 130,580,673 probably benign Het
Cacna2d3 C T 14: 29,183,641 V390I possibly damaging Het
Ccdc25 T A 14: 65,860,202 M195K possibly damaging Het
Cdhr2 T A 13: 54,731,118 S979T probably benign Het
Cog2 T C 8: 124,542,891 F390S possibly damaging Het
Dennd5b A G 6: 149,068,085 V290A probably benign Het
Ebf1 T C 11: 44,869,100 L188P probably damaging Het
Fam129a T C 1: 151,717,721 V719A probably benign Het
Galt T C 4: 41,757,786 probably benign Het
Gm12830 C T 4: 114,845,064 T141I unknown Het
Herc2 T A 7: 56,181,133 W2965R probably damaging Het
Hrg A G 16: 22,959,159 probably null Het
Ighv8-5 T C 12: 115,067,574 Y115C probably damaging Het
Igkv12-89 A G 6: 68,835,143 V14A probably benign Het
Nav2 A C 7: 49,452,521 T295P probably benign Het
Nrg1 G A 8: 31,917,875 T110I probably damaging Het
Olfr1183 T C 2: 88,462,075 V264A possibly damaging Het
Olfr555 A C 7: 102,659,492 K224Q probably benign Het
Olfr847 A T 9: 19,375,239 I214N probably damaging Het
Pclo T C 5: 14,676,912 probably benign Het
Polg2 T C 11: 106,777,432 probably null Het
Ptges G T 2: 30,892,708 R111S probably damaging Het
Rbbp4 T C 4: 129,322,875 probably benign Het
Rundc3a T C 11: 102,393,776 V34A probably benign Het
Scn3a C A 2: 65,497,365 probably null Het
Sec14l3 T C 11: 4,076,238 probably benign Het
Strip1 C T 3: 107,626,731 probably null Het
Svep1 T A 4: 58,070,302 I2495F probably benign Het
Syne1 A G 10: 5,443,154 S71P probably damaging Het
Tedc1 C T 12: 113,163,188 R357* probably null Het
Tmem161b C T 13: 84,292,407 R133* probably null Het
Tnnc2 A T 2: 164,777,833 I71N probably damaging Het
Vps13d T C 4: 145,149,275 N1554S probably benign Het
Wfdc3 A T 2: 164,732,203 probably benign Het
Zfp648 A T 1: 154,205,364 H423L 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
IGL02393:Afap1l2 APN 19 56914440 missense probably damaging 1.00
IGL02887:Afap1l2 APN 19 56920563 missense probably damaging 1.00
IGL03060:Afap1l2 APN 19 56914250 nonsense probably null
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
X0062:Afap1l2 UTSW 19 56918033 missense probably damaging 1.00
Posted On2013-06-21