Incidental Mutation 'R6194:Afap1l2'
ID 502819
Institutional Source Beutler Lab
Gene Symbol Afap1l2
Ensembl Gene ENSMUSG00000025083
Gene Name actin filament associated protein 1-like 2
Synonyms
MMRRC Submission 044334-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.089) question?
Stock # R6194 (G1)
Quality Score 225.009
Status Not validated
Chromosome 19
Chromosomal Location 56900793-56996660 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 56911383 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Arginine to Serine at position 370 (R370S)
Ref Sequence ENSEMBL: ENSMUSP00000107210 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000111584] [ENSMUST00000118800] [ENSMUST00000122359] [ENSMUST00000148049]
AlphaFold Q5DTU0
Predicted Effect probably damaging
Transcript: ENSMUST00000111584
AA Change: R370S

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000107210
Gene: ENSMUSG00000025083
AA Change: R370S

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: R352S

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000113745
Gene: ENSMUSG00000025083
AA Change: R352S

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: R296S

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000112387
Gene: ENSMUSG00000025083
AA Change: R296S

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 benign
Transcript: ENSMUST00000148049
SMART Domains Protein: ENSMUSP00000120490
Gene: ENSMUSG00000025083

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
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.5%
  • 20x: 98.6%
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 57 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
5031410I06Rik T C 5: 26,309,033 (GRCm39) I90V probably benign Het
Alcam A G 16: 52,088,761 (GRCm39) Y537H probably damaging Het
Araf G T X: 20,726,339 (GRCm39) R601L probably damaging Homo
Asap1 A G 15: 64,001,058 (GRCm39) S508P probably damaging Het
Atg5 T C 10: 44,170,612 (GRCm39) L86P probably damaging Het
Atp13a5 G A 16: 29,127,057 (GRCm39) P502S probably damaging Het
AW209491 T A 13: 14,811,705 (GRCm39) I186K possibly damaging Het
Baz1b T C 5: 135,272,744 (GRCm39) Y1354H probably damaging Het
Card6 A T 15: 5,127,926 (GRCm39) S1157T unknown Het
Chil6 A G 3: 106,312,192 (GRCm39) probably null Het
Chrna1 A G 2: 73,400,816 (GRCm39) V238A probably benign Het
Cluap1 A G 16: 3,747,770 (GRCm39) S308G probably benign Het
Cntnap4 A G 8: 113,602,061 (GRCm39) D1155G probably damaging Het
Cptp A G 4: 155,951,098 (GRCm39) F123L probably damaging Het
Elapor1 T C 3: 108,373,095 (GRCm39) I600V probably benign Het
Fbxw2 G A 2: 34,697,416 (GRCm39) T317I probably damaging Het
Gc A T 5: 89,589,438 (GRCm39) V197E probably benign Het
Gusb C T 5: 130,018,906 (GRCm39) V577M possibly damaging Het
Hectd1 A T 12: 51,795,228 (GRCm39) N2400K probably damaging Het
Hnrnph1 T A 11: 50,274,104 (GRCm39) D340E possibly damaging Het
Hs3st1 C A 5: 39,771,748 (GRCm39) K298N probably damaging Het
Hunk A T 16: 90,293,283 (GRCm39) T522S probably damaging Het
Ifit3 T C 19: 34,565,027 (GRCm39) F191S probably benign Het
Ifnab T A 4: 88,609,362 (GRCm39) K35* probably null Het
Ifnab G T 4: 88,609,363 (GRCm39) N34K probably damaging Het
Ighmbp2 C A 19: 3,312,003 (GRCm39) R917L possibly damaging Het
Igkv13-84 C T 6: 68,916,916 (GRCm39) A71V possibly damaging Het
Irag1 T C 7: 110,498,901 (GRCm39) N377D probably damaging Het
Lim2 T A 7: 43,085,086 (GRCm39) C159S probably damaging Het
Lrrc56 T C 7: 140,785,564 (GRCm39) Y147H probably damaging Het
Ltn1 A G 16: 87,212,698 (GRCm39) L621P probably damaging Het
Mapk8ip1 C A 2: 92,219,589 (GRCm39) G81C probably damaging Het
Mboat2 T A 12: 24,996,637 (GRCm39) S213R probably benign Het
Mmel1 T A 4: 154,967,673 (GRCm39) C99* probably null Het
Myo9a A G 9: 59,777,033 (GRCm39) I1144V probably benign Het
Naa15 A G 3: 51,370,721 (GRCm39) T612A probably benign Het
Naalad2 C T 9: 18,262,443 (GRCm39) V362I probably benign Het
Nbeal1 A T 1: 60,296,643 (GRCm39) I1178F possibly damaging Het
Nras C A 3: 102,966,269 (GRCm39) A11E probably damaging Het
Or13f5 T A 4: 52,825,779 (GRCm39) C127* probably null Het
Or56a3b G T 7: 104,771,377 (GRCm39) V238L probably benign Het
Pcdhb7 A G 18: 37,475,199 (GRCm39) T112A probably damaging Het
Peg10 C CCCATCAGGA 6: 4,756,351 (GRCm39) probably benign Het
Pfkfb2 A G 1: 130,625,624 (GRCm39) *519Q probably null Het
Prodh A T 16: 17,890,381 (GRCm39) H515Q probably benign Het
Rbfox2 T C 15: 76,968,357 (GRCm39) T435A possibly damaging Het
Rbks T C 5: 31,824,234 (GRCm39) E87G probably benign Het
Scyl1 G T 19: 5,820,334 (GRCm39) Q167K possibly damaging Het
Serpina3i T A 12: 104,232,762 (GRCm39) D222E probably benign Het
Slc36a4 T A 9: 15,638,172 (GRCm39) C199* probably null Het
Slx1b C T 7: 126,291,503 (GRCm39) R187H possibly damaging Het
Stxbp5 A G 10: 9,693,083 (GRCm39) F348L probably damaging Het
Tbc1d2 C T 4: 46,629,912 (GRCm39) G252R probably benign Het
Tfpt A T 7: 3,632,026 (GRCm39) L28Q probably damaging Het
Trap1 G A 16: 3,872,664 (GRCm39) T335M possibly damaging Het
Zcchc2 T A 1: 105,918,847 (GRCm39) F110I probably damaging Het
Zfp345 A T 2: 150,314,551 (GRCm39) C329S 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
IGL01150:Afap1l2 APN 19 56,918,618 (GRCm39) missense probably damaging 0.99
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
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
Predicted Primers PCR Primer
(F):5'- AGGACCCAACACTGTAGCAG -3'
(R):5'- TGGGAATAGCTGACTTGGC -3'

Sequencing Primer
(F):5'- GGACAGAACCTGGCAAAGC -3'
(R):5'- ACCTGTATACATGTGTGTACCTG -3'
Posted On 2018-02-27