Incidental Mutation 'R0432:Afap1l2'
ID 38884
Institutional Source Beutler Lab
Gene Symbol Afap1l2
Ensembl Gene ENSMUSG00000025083
Gene Name actin filament associated protein 1-like 2
Synonyms
MMRRC Submission 038634-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.089) question?
Stock # R0432 (G1)
Quality Score 139
Status Validated
Chromosome 19
Chromosomal Location 56900793-56996660 bp(-) (GRCm39)
Type of Mutation splice site
DNA Base Change (assembly) T to C at 56905551 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000112387 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000111584] [ENSMUST00000118800] [ENSMUST00000122359]
AlphaFold Q5DTU0
Predicted Effect probably benign
Transcript: ENSMUST00000111584
SMART Domains Protein: ENSMUSP00000107210
Gene: ENSMUSG00000025083

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 benign
Transcript: ENSMUST00000118800
SMART Domains Protein: ENSMUSP00000113745
Gene: ENSMUSG00000025083

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 benign
Transcript: ENSMUST00000122359
SMART Domains Protein: ENSMUSP00000112387
Gene: ENSMUSG00000025083

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 noncoding transcript
Transcript: ENSMUST00000155467
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.3%
  • 10x: 96.3%
  • 20x: 92.9%
Validation Efficiency 99% (91/92)
Allele List at MGI
Other mutations in this stock
Total: 88 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2310061I04Rik A G 17: 36,206,708 (GRCm39) L110P probably damaging Het
4930522L14Rik A T 5: 109,884,785 (GRCm39) C358S probably damaging Het
Abca8b C A 11: 109,870,841 (GRCm39) V104F possibly damaging Het
Ahctf1 A C 1: 179,611,726 (GRCm39) I548R probably damaging Het
Alox12b G T 11: 69,060,382 (GRCm39) G646V probably damaging Het
Aoah C T 13: 21,095,368 (GRCm39) probably benign Het
Arhgap39 C T 15: 76,619,086 (GRCm39) D833N probably damaging Het
Atxn1l A G 8: 110,458,325 (GRCm39) W646R probably damaging Het
Cabp2 T C 19: 4,134,903 (GRCm39) I28T possibly damaging Het
Cacna1b G A 2: 24,577,716 (GRCm39) T719I probably damaging Het
Camk1d A T 2: 5,449,946 (GRCm39) H70Q probably damaging Het
Car1 T C 3: 14,835,236 (GRCm39) T170A probably benign Het
Ccdc162 T C 10: 41,417,856 (GRCm39) T2113A probably benign Het
Cdc5l G A 17: 45,726,610 (GRCm39) R321W probably damaging Het
Cdh17 T A 4: 11,771,273 (GRCm39) C18* probably null Het
Cdk17 A T 10: 93,073,652 (GRCm39) probably benign Het
Chd9 T A 8: 91,721,078 (GRCm39) probably benign Het
Chrm5 T A 2: 112,310,000 (GRCm39) K372M possibly damaging Het
Clasp2 A G 9: 113,738,487 (GRCm39) T423A probably benign Het
Col11a1 A G 3: 113,999,550 (GRCm39) probably benign Het
Col27a1 T C 4: 63,143,848 (GRCm39) M512T possibly damaging Het
Dclk3 A G 9: 111,314,003 (GRCm39) D693G probably damaging Het
Dcun1d3 T A 7: 119,457,173 (GRCm39) K180* probably null Het
Dmxl2 T C 9: 54,324,235 (GRCm39) R876G probably benign Het
Dnmbp A T 19: 43,843,296 (GRCm39) Y432* probably null Het
Elapor2 G T 5: 9,490,966 (GRCm39) G659* probably null Het
Eml2 C T 7: 18,913,456 (GRCm39) Q125* probably null Het
Faap100 A C 11: 120,264,702 (GRCm39) probably benign Het
Foxp2 T C 6: 15,254,278 (GRCm39) probably benign Het
Gda A G 19: 21,394,471 (GRCm39) Y129H probably damaging Het
Gga3 G A 11: 115,481,350 (GRCm39) R207C probably damaging Het
Glg1 T C 8: 111,909,201 (GRCm39) I496M probably damaging Het
Glt6d1 C A 2: 25,684,739 (GRCm39) probably null Het
Gm10322 A T 10: 59,452,030 (GRCm39) H49L possibly damaging Het
Golga5 G T 12: 102,442,467 (GRCm39) V269F possibly damaging Het
Gramd2b G A 18: 56,607,141 (GRCm39) C85Y probably benign Het
Grhl1 C T 12: 24,632,918 (GRCm39) P153L probably benign Het
Hdac9 T C 12: 34,487,221 (GRCm39) Q60R probably damaging Het
Hdlbp T C 1: 93,353,054 (GRCm39) I414V probably damaging Het
Itpk1 C T 12: 102,572,337 (GRCm39) probably benign Het
Itsn1 T A 16: 91,612,408 (GRCm39) Y266N probably damaging Het
Lipe G A 7: 25,097,913 (GRCm39) P10L probably benign Het
Lrrc8a A G 2: 30,147,079 (GRCm39) E631G probably damaging Het
Lvrn T A 18: 47,038,366 (GRCm39) N973K possibly damaging Het
Man2c1 T A 9: 57,042,881 (GRCm39) H250Q probably damaging Het
Mup3 T C 4: 62,003,519 (GRCm39) T117A probably benign Het
Myo6 A C 9: 80,181,256 (GRCm39) probably benign Het
Nbn T A 4: 15,983,951 (GRCm39) probably benign Het
Ncapg T A 5: 45,829,770 (GRCm39) N157K probably damaging Het
Or4p7 C T 2: 88,222,377 (GRCm39) T262I probably damaging Het
Or5an1 T A 19: 12,261,267 (GRCm39) M285K probably damaging Het
Or5m12 T A 2: 85,734,501 (GRCm39) N299I probably damaging Het
Or5w14 G A 2: 87,541,774 (GRCm39) H159Y probably benign Het
Or9m1 T C 2: 87,733,304 (GRCm39) T239A probably damaging Het
P4ha1 T A 10: 59,184,079 (GRCm39) Y180* probably null Het
Pcdhb19 T A 18: 37,632,588 (GRCm39) F794L probably benign Het
Pdxdc1 T A 16: 13,672,264 (GRCm39) I379F probably damaging Het
Psme3 T A 11: 101,211,268 (GRCm39) S185T possibly damaging Het
Ptgr1 A G 4: 58,978,045 (GRCm39) S116P probably damaging Het
Ptpn23 A T 9: 110,218,078 (GRCm39) probably null Het
Rabgap1l A C 1: 160,549,775 (GRCm39) I277R probably benign Het
Rapgef1 C T 2: 29,569,828 (GRCm39) T93I possibly damaging Het
Rbp3 A T 14: 33,676,730 (GRCm39) D226V probably damaging Het
Rnf144a A T 12: 26,389,328 (GRCm39) C38S probably damaging Het
Rptor C T 11: 119,671,379 (GRCm39) Q281* probably null Het
Rragd T C 4: 33,004,332 (GRCm39) L208S probably damaging Het
Slc12a4 T C 8: 106,686,120 (GRCm39) E41G probably damaging Het
Slc16a1 G T 3: 104,560,735 (GRCm39) V347F probably benign Het
Slit1 G A 19: 41,731,732 (GRCm39) T39I probably damaging Het
Sra1 T C 18: 36,810,556 (GRCm39) N98S probably benign Het
Ssx2ip T C 3: 146,132,184 (GRCm39) L215P probably damaging Het
Syne2 A T 12: 75,995,838 (GRCm39) H2126L probably damaging Het
Tep1 TTTCTTCTTCTT TTTCTTCTT 14: 51,104,280 (GRCm39) probably benign Het
Tgfbi T C 13: 56,780,004 (GRCm39) probably benign Het
Tmem232 T C 17: 65,563,498 (GRCm39) M632V probably damaging Het
Tmem81 C G 1: 132,435,567 (GRCm39) I124M probably damaging Het
Tnnt3 T G 7: 142,065,823 (GRCm39) D153E probably benign Het
Tnrc6b T A 15: 80,807,647 (GRCm39) probably benign Het
Tpsab1 A G 17: 25,562,798 (GRCm39) probably benign Het
Usp34 T A 11: 23,351,505 (GRCm39) V1431D probably damaging Het
Wdr49 G T 3: 75,357,329 (GRCm39) R285S possibly damaging Het
Wdr7 A G 18: 63,929,320 (GRCm39) Y1052C probably damaging Het
Zan A T 5: 137,380,578 (GRCm39) probably benign Het
Zfp652 G A 11: 95,654,565 (GRCm39) V323I possibly damaging Het
Zfp740 A G 15: 102,121,094 (GRCm39) T136A possibly damaging Het
Zfp82 C T 7: 29,755,754 (GRCm39) E443K probably damaging Het
Zfp874b A G 13: 67,629,955 (GRCm39) S10P probably damaging Het
Zmynd19 A G 2: 24,848,134 (GRCm39) Y110C probably benign 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
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
Predicted Primers PCR Primer
(F):5'- AATGTGCCAATGCTCCTACCTCAC -3'
(R):5'- GCTGGGAGGAGACAGGCATTTATC -3'

Sequencing Primer
(F):5'- AATGCTCCTACCTCACGCTAC -3'
(R):5'- AGACAGGCATTTATCTCAGGC -3'
Posted On 2013-05-23