Incidental Mutation 'IGL01150:Afap1l2'
ID 53307
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Afap1l2
Ensembl Gene ENSMUSG00000025083
Gene Name actin filament associated protein 1-like 2
Synonyms
Accession Numbers
Essential gene? Probably non essential (E-score: 0.089) question?
Stock # IGL01150
Quality Score
Status
Chromosome 19
Chromosomal Location 56900793-56996660 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 56918618 bp (GRCm39)
Zygosity Heterozygous
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]
AlphaFold Q5DTU0
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: 8,752,550 (GRCm39) D507G possibly damaging Het
Actl6a A G 3: 32,766,313 (GRCm39) I60V probably benign Het
Adra2c T C 5: 35,438,485 (GRCm39) F419S probably damaging Het
Arid4b C T 13: 14,369,959 (GRCm39) Q1152* probably null Het
Arsj A G 3: 126,232,433 (GRCm39) D393G probably benign Het
Avp T C 2: 130,422,593 (GRCm39) probably benign Het
Cacna2d3 C T 14: 28,905,598 (GRCm39) V390I possibly damaging Het
Ccdc25 T A 14: 66,097,651 (GRCm39) M195K possibly damaging Het
Cdhr2 T A 13: 54,878,931 (GRCm39) S979T probably benign Het
Cog2 T C 8: 125,269,630 (GRCm39) F390S possibly damaging Het
Dennd5b A G 6: 148,969,583 (GRCm39) V290A probably benign Het
Ebf1 T C 11: 44,759,927 (GRCm39) L188P probably damaging Het
Galt T C 4: 41,757,786 (GRCm39) probably benign Het
Gm12830 C T 4: 114,702,261 (GRCm39) T141I unknown Het
Herc2 T A 7: 55,830,881 (GRCm39) W2965R probably damaging Het
Hrg A G 16: 22,777,909 (GRCm39) probably null Het
Ighv8-5 T C 12: 115,031,194 (GRCm39) Y115C probably damaging Het
Igkv12-89 A G 6: 68,812,127 (GRCm39) V14A probably benign Het
Nav2 A C 7: 49,102,269 (GRCm39) T295P probably benign Het
Niban1 T C 1: 151,593,472 (GRCm39) V719A probably benign Het
Nrg1 G A 8: 32,407,903 (GRCm39) T110I probably damaging Het
Or4c31 T C 2: 88,292,419 (GRCm39) V264A possibly damaging Het
Or51h1 A C 7: 102,308,699 (GRCm39) K224Q probably benign Het
Or7g29 A T 9: 19,286,535 (GRCm39) I214N probably damaging Het
Pclo T C 5: 14,726,926 (GRCm39) probably benign Het
Polg2 T C 11: 106,668,258 (GRCm39) probably null Het
Ptges G T 2: 30,782,720 (GRCm39) R111S probably damaging Het
Rbbp4 T C 4: 129,216,668 (GRCm39) probably benign Het
Rundc3a T C 11: 102,284,602 (GRCm39) V34A probably benign Het
Scn3a C A 2: 65,327,709 (GRCm39) probably null Het
Sec14l3 T C 11: 4,026,238 (GRCm39) probably benign Het
Strip1 C T 3: 107,534,047 (GRCm39) probably null Het
Svep1 T A 4: 58,070,302 (GRCm39) I2495F probably benign Het
Syne1 A G 10: 5,393,154 (GRCm39) S71P probably damaging Het
Tedc1 C T 12: 113,126,808 (GRCm39) R357* probably null Het
Tmem161b C T 13: 84,440,526 (GRCm39) R133* probably null Het
Tnnc2 A T 2: 164,619,753 (GRCm39) I71N probably damaging Het
Vps13d T C 4: 144,875,845 (GRCm39) N1554S probably benign Het
Wfdc3 A T 2: 164,574,123 (GRCm39) probably benign Het
Zfp648 A T 1: 154,081,110 (GRCm39) H423L probably damaging Het
Other mutations in Afap1l2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00424:Afap1l2 APN 19 56,990,740 (GRCm39) splice site probably benign
IGL01012:Afap1l2 APN 19 56,918,693 (GRCm39) missense probably damaging 0.98
IGL01089:Afap1l2 APN 19 56,901,843 (GRCm39) splice site probably null
IGL02393:Afap1l2 APN 19 56,902,872 (GRCm39) missense probably damaging 1.00
IGL02887:Afap1l2 APN 19 56,908,995 (GRCm39) missense probably damaging 1.00
IGL03060:Afap1l2 APN 19 56,902,682 (GRCm39) nonsense probably null
R0102:Afap1l2 UTSW 19 56,916,872 (GRCm39) unclassified probably benign
R0102:Afap1l2 UTSW 19 56,916,872 (GRCm39) unclassified probably benign
R0282:Afap1l2 UTSW 19 56,904,653 (GRCm39) missense possibly damaging 0.65
R0388:Afap1l2 UTSW 19 56,905,674 (GRCm39) splice site probably benign
R0432:Afap1l2 UTSW 19 56,905,551 (GRCm39) splice site probably benign
R0497:Afap1l2 UTSW 19 56,918,641 (GRCm39) missense probably benign 0.27
R0578:Afap1l2 UTSW 19 56,904,214 (GRCm39) missense probably benign 0.04
R0631:Afap1l2 UTSW 19 56,904,517 (GRCm39) missense probably benign 0.39
R0670:Afap1l2 UTSW 19 56,904,235 (GRCm39) missense probably damaging 1.00
R1188:Afap1l2 UTSW 19 56,913,501 (GRCm39) missense probably damaging 0.97
R1236:Afap1l2 UTSW 19 56,904,904 (GRCm39) missense possibly damaging 0.64
R1274:Afap1l2 UTSW 19 56,902,995 (GRCm39) missense probably benign 0.02
R1463:Afap1l2 UTSW 19 56,918,583 (GRCm39) missense probably benign 0.01
R1497:Afap1l2 UTSW 19 56,916,743 (GRCm39) missense probably benign 0.25
R1597:Afap1l2 UTSW 19 56,902,881 (GRCm39) missense probably benign 0.14
R1778:Afap1l2 UTSW 19 56,904,638 (GRCm39) missense possibly damaging 0.68
R1795:Afap1l2 UTSW 19 56,916,841 (GRCm39) missense probably damaging 1.00
R1991:Afap1l2 UTSW 19 56,990,699 (GRCm39) missense possibly damaging 0.62
R2113:Afap1l2 UTSW 19 56,901,821 (GRCm39) missense possibly damaging 0.95
R2242:Afap1l2 UTSW 19 56,902,900 (GRCm39) missense possibly damaging 0.56
R3429:Afap1l2 UTSW 19 56,904,238 (GRCm39) missense probably damaging 1.00
R3430:Afap1l2 UTSW 19 56,904,238 (GRCm39) missense probably damaging 1.00
R3698:Afap1l2 UTSW 19 56,904,955 (GRCm39) missense possibly damaging 0.69
R4706:Afap1l2 UTSW 19 56,925,672 (GRCm39) missense possibly damaging 0.76
R4956:Afap1l2 UTSW 19 56,931,879 (GRCm39) missense probably benign 0.00
R4993:Afap1l2 UTSW 19 56,906,472 (GRCm39) missense probably damaging 1.00
R5772:Afap1l2 UTSW 19 56,911,406 (GRCm39) missense probably benign 0.02
R5878:Afap1l2 UTSW 19 56,904,107 (GRCm39) missense probably benign 0.01
R6194:Afap1l2 UTSW 19 56,911,383 (GRCm39) missense probably damaging 1.00
R6226:Afap1l2 UTSW 19 56,904,560 (GRCm39) missense probably benign 0.00
R6334:Afap1l2 UTSW 19 56,906,408 (GRCm39) splice site probably null
R6439:Afap1l2 UTSW 19 56,916,818 (GRCm39) missense possibly damaging 0.91
R7332:Afap1l2 UTSW 19 56,906,553 (GRCm39) missense probably damaging 1.00
R7524:Afap1l2 UTSW 19 56,906,543 (GRCm39) missense probably damaging 1.00
R7577:Afap1l2 UTSW 19 56,933,199 (GRCm39) missense probably damaging 1.00
R7696:Afap1l2 UTSW 19 56,902,918 (GRCm39) missense probably damaging 1.00
R7741:Afap1l2 UTSW 19 56,902,914 (GRCm39) missense probably damaging 1.00
R7940:Afap1l2 UTSW 19 56,902,597 (GRCm39) missense probably damaging 0.99
R8221:Afap1l2 UTSW 19 56,902,824 (GRCm39) missense probably damaging 1.00
R9037:Afap1l2 UTSW 19 56,918,403 (GRCm39) unclassified probably benign
R9114:Afap1l2 UTSW 19 56,906,427 (GRCm39) missense probably damaging 1.00
R9201:Afap1l2 UTSW 19 56,916,688 (GRCm39) missense probably damaging 1.00
R9623:Afap1l2 UTSW 19 56,906,462 (GRCm39) missense probably damaging 1.00
R9674:Afap1l2 UTSW 19 56,922,195 (GRCm39) missense probably damaging 0.96
X0062:Afap1l2 UTSW 19 56,906,465 (GRCm39) missense probably damaging 1.00
Posted On 2013-06-21