Incidental Mutation 'ANU74:Pam16'
ID 262724
Institutional Source Beutler Lab
Gene Symbol Pam16
Ensembl Gene ENSMUSG00000014301
Gene Name presequence translocase-asssociated motor 16
Synonyms Tim16, 2010110I09Rik, Magmas, CGI-136
Accession Numbers
Essential gene? Probably essential (E-score: 0.912) question?
Stock # ANU74
Quality Score 225
Status Not validated
Chromosome 16
Chromosomal Location 4434330-4442810 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to A at 4434497 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Phenylalanine at position 98 (V98F)
Ref Sequence ENSEMBL: ENSMUSP00000014445 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000014445] [ENSMUST00000014447] [ENSMUST00000156889]
AlphaFold Q9CQV1
Predicted Effect probably damaging
Transcript: ENSMUST00000014445
AA Change: V98F

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000014445
Gene: ENSMUSG00000014301
AA Change: V98F

DomainStartEndE-ValueType
Pfam:Pam16 1 125 4.9e-63 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000014447
SMART Domains Protein: ENSMUSP00000014447
Gene: ENSMUSG00000014303

DomainStartEndE-ValueType
low complexity region 46 58 N/A INTRINSIC
low complexity region 74 100 N/A INTRINSIC
ZnF_C2H2 168 193 1.05e1 SMART
ZnF_C2H2 202 229 8.09e0 SMART
ZnF_C2H2 235 257 1.82e-3 SMART
ZnF_C2H2 263 287 3.16e-3 SMART
ZnF_C2H2 293 317 1.04e-3 SMART
low complexity region 328 342 N/A INTRINSIC
low complexity region 358 385 N/A INTRINSIC
low complexity region 387 402 N/A INTRINSIC
low complexity region 405 418 N/A INTRINSIC
low complexity region 420 445 N/A INTRINSIC
low complexity region 468 475 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000122896
Predicted Effect noncoding transcript
Transcript: ENSMUST00000127120
Predicted Effect noncoding transcript
Transcript: ENSMUST00000131250
Predicted Effect noncoding transcript
Transcript: ENSMUST00000135577
Predicted Effect noncoding transcript
Transcript: ENSMUST00000139534
Predicted Effect probably benign
Transcript: ENSMUST00000156889
Coding Region Coverage
  • 1x: 99.3%
  • 3x: 98.7%
  • 10x: 97.2%
  • 20x: 95.3%
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 49 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adgra3 G A 5: 50,118,380 (GRCm39) S1056L probably benign Het
Ankrd26 A T 6: 118,529,736 (GRCm39) D236E probably benign Het
Capn15 C T 17: 26,184,460 (GRCm39) W7* probably null Het
Celsr2 G A 3: 108,319,815 (GRCm39) T999M probably damaging Het
Chrd T A 16: 20,560,069 (GRCm39) M912K possibly damaging Het
Col9a1 A G 1: 24,224,409 (GRCm39) D197G unknown Het
Csf1r A G 18: 61,250,463 (GRCm39) E431G probably benign Het
Eloc A G 1: 16,713,574 (GRCm39) F115L possibly damaging Het
Fap T C 2: 62,378,113 (GRCm39) D193G probably damaging Het
Fscn2 T C 11: 120,253,162 (GRCm39) Y210H probably damaging Het
Fut9 G C 4: 25,620,802 (GRCm39) T4R probably benign Het
Grb2 A T 11: 115,536,733 (GRCm39) D131E probably benign Het
Hecw2 T C 1: 53,964,853 (GRCm39) T658A probably benign Het
Helz2 T C 2: 180,876,627 (GRCm39) E1289G probably benign Het
Hyou1 A G 9: 44,292,560 (GRCm39) N92D possibly damaging Het
Irf8 A C 8: 121,466,608 (GRCm39) I18L possibly damaging Het
Kif12 GGGGC GGGGCCTCCACCCGGCGGGC 4: 63,089,660 (GRCm39) probably benign Het
Kif12 GC "GCCTCCACCCGGCGGTC,GCC" 4: 63,089,663 (GRCm39) probably null Het
Lamc2 A C 1: 153,007,581 (GRCm39) D864E probably benign Het
Map3k4 A G 17: 12,451,863 (GRCm39) V1475A probably damaging Het
Mapk8ip3 A C 17: 25,119,551 (GRCm39) M1030R possibly damaging Het
Mat1a A G 14: 40,833,099 (GRCm39) D94G probably benign Het
Myh15 T A 16: 48,993,295 (GRCm39) D1643E possibly damaging Het
Myo15b T C 11: 115,769,239 (GRCm39) F55L probably damaging Het
Nhlh2 A T 3: 101,919,970 (GRCm39) M1L probably benign Het
Nup214 T C 2: 31,924,978 (GRCm39) S1836P probably damaging Het
Olr1 G A 6: 129,477,032 (GRCm39) R78C possibly damaging Het
Or5m9 T A 2: 85,877,655 (GRCm39) Y276* probably null Het
Pelp1 C T 11: 70,285,913 (GRCm39) V652I probably damaging Het
Pole A G 5: 110,437,236 (GRCm39) H67R probably benign Het
Rbms1 G T 2: 60,628,060 (GRCm39) A60E probably damaging Het
Recql4 A T 15: 76,589,957 (GRCm39) M789K possibly damaging Het
Rrn3 T C 16: 13,629,397 (GRCm39) F571S possibly damaging Het
Ryr3 T C 2: 112,661,575 (GRCm39) probably null Het
Sec61b C A 4: 47,474,922 (GRCm39) N26K possibly damaging Het
Serinc1 T C 10: 57,395,938 (GRCm39) E284G probably benign Het
Slc30a9 G A 5: 67,507,195 (GRCm39) D496N probably damaging Het
Slc44a4 G A 17: 35,140,554 (GRCm39) R249H probably damaging Het
Slc6a13 A C 6: 121,311,835 (GRCm39) D404A probably benign Het
Spata18 A G 5: 73,828,456 (GRCm39) E225G probably damaging Het
Sspo G A 6: 48,437,893 (GRCm39) G1351S probably damaging Het
Tgm3 T C 2: 129,890,310 (GRCm39) V691A probably damaging Het
Tns3 C T 11: 8,442,149 (GRCm39) R738Q probably benign Het
Tyk2 A T 9: 21,027,454 (GRCm39) I506N probably damaging Het
Ube2v1 G A 2: 167,452,264 (GRCm39) T113I probably damaging Het
Vmn1r177 A G 7: 23,565,645 (GRCm39) V77A possibly damaging Het
Vmn2r14 A T 5: 109,366,910 (GRCm39) S437T probably benign Het
Vmn2r78 G C 7: 86,570,273 (GRCm39) V264L possibly damaging Het
Zfp956 T G 6: 47,940,507 (GRCm39) Y289D probably benign Het
Other mutations in Pam16
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02644:Pam16 APN 16 4,434,697 (GRCm39) missense probably damaging 1.00
IGL03387:Pam16 APN 16 4,434,671 (GRCm39) splice site probably benign
IGL03097:Pam16 UTSW 16 4,434,458 (GRCm39) missense probably benign 0.20
R5507:Pam16 UTSW 16 4,435,880 (GRCm39) splice site probably benign
Z1176:Pam16 UTSW 16 4,442,770 (GRCm39) start gained probably benign
Predicted Primers PCR Primer
(F):5'- AGGCAGTGAGTGAGCAAACCTTC -3'
(R):5'- TCACACCAGCTTCCTGCATGAC -3'

Sequencing Primer
(F):5'- CTTCTCAAACAGGAACATATGCAGTG -3'
(R):5'- CTCATCTCCTGGCAGAATTATGAAC -3'
Posted On 2015-02-04