Incidental Mutation 'IGL03097:Pam16'
ID 453234
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 # IGL03097 (G1)
Quality Score 225
Status Validated
Chromosome 16
Chromosomal Location 4434330-4442810 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 4434458 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Valine at position 111 (I111V)
Ref Sequence ENSEMBL: ENSMUSP00000014445 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000014445] [ENSMUST00000014447] [ENSMUST00000156889]
AlphaFold Q9CQV1
Predicted Effect probably benign
Transcript: ENSMUST00000014445
AA Change: I111V

PolyPhen 2 Score 0.197 (Sensitivity: 0.92; Specificity: 0.87)
SMART Domains Protein: ENSMUSP00000014445
Gene: ENSMUSG00000014301
AA Change: I111V

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
Meta Mutation Damage Score 0.1199 question?
Coding Region Coverage
  • 1x: 0.0%
  • 3x: 0.0%
  • 10x: 0.0%
  • 20x: 0.0%
Validation Efficiency 90% (46/51)
Allele List at MGI
Other mutations in this stock
Total: 47 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4933416I08Rik TCC TCCC X: 52,692,862 (GRCm39) noncoding transcript Het
Adcy9 T C 16: 4,235,930 (GRCm39) T257A possibly damaging Het
Ahnak A G 19: 8,979,751 (GRCm39) D345G probably benign Het
Ak5 A G 3: 152,366,151 (GRCm39) probably null Het
Akap3 A G 6: 126,843,379 (GRCm39) K666R probably damaging Het
Alpk3 A G 7: 80,743,657 (GRCm39) N1158S probably benign Het
Atp23 A T 10: 126,723,556 (GRCm39) V182E probably damaging Het
Atp4a A G 7: 30,422,462 (GRCm39) D898G probably benign Het
Bnip3 T C 7: 138,496,208 (GRCm39) N140S probably damaging Het
Bptf T C 11: 106,968,506 (GRCm39) Y1059C probably damaging Het
Cacna1h A T 17: 25,610,118 (GRCm39) I796N probably damaging Het
Ccnb2 A G 9: 70,316,678 (GRCm39) probably benign Het
Cd3g T A 9: 44,882,061 (GRCm39) D165V probably damaging Het
Cfap70 T C 14: 20,498,676 (GRCm39) T4A probably benign Het
Cilp TGGG TGG 9: 65,187,412 (GRCm39) probably null Het
Cntn4 C T 6: 106,330,673 (GRCm39) T97M probably benign Het
Crb1 CG C 1: 139,164,824 (GRCm39) probably null Het
Crim1 C T 17: 78,675,227 (GRCm39) T812I probably benign Het
Csmd1 G T 8: 15,995,127 (GRCm39) T2636K probably damaging Het
Cyp39a1 T A 17: 43,993,941 (GRCm39) Y200* probably null Het
Dlg4 T G 11: 69,933,028 (GRCm39) I478S probably damaging Het
Dsc3 A T 18: 20,107,105 (GRCm39) N505K probably benign Het
Efhc1 T C 1: 21,043,049 (GRCm39) W323R probably damaging Het
Ehhadh T A 16: 21,581,520 (GRCm39) I491L probably benign Het
Ggt6 T G 11: 72,327,639 (GRCm39) H148Q possibly damaging Het
Gstm3 T C 3: 107,876,117 (GRCm39) D25G probably benign Het
Gtf2h3 G A 5: 124,740,231 (GRCm39) probably benign Het
Hjurp TGGG TTGCGGG 1: 88,194,002 (GRCm39) probably benign Het
Hnf4g A C 3: 3,716,674 (GRCm39) E281A probably damaging Het
Impg1 T G 9: 80,287,234 (GRCm39) E404A possibly damaging Het
Kcna2 T C 3: 107,012,715 (GRCm39) V432A probably benign Het
Map3k2 T G 18: 32,333,070 (GRCm39) D81E probably benign Het
Mmp1a TG TGG 9: 7,465,083 (GRCm38) probably null Het
Mmp9 T A 2: 164,792,726 (GRCm39) probably null Het
Mroh2a G A 1: 88,163,098 (GRCm39) R376H probably benign Het
Ms4a1 G T 19: 11,230,556 (GRCm39) T215N probably benign Het
Pde6c A G 19: 38,166,719 (GRCm39) T720A probably damaging Het
Pgap2 T C 7: 101,885,434 (GRCm39) L100P probably damaging Het
Ppl T A 16: 4,914,590 (GRCm39) S686C probably damaging Het
Rnls A G 19: 33,115,679 (GRCm39) probably benign Het
Robo3 A C 9: 37,333,824 (GRCm39) probably null Het
Rptn G A 3: 93,304,680 (GRCm39) G671D probably damaging Het
Slc6a21 C T 7: 44,937,592 (GRCm39) Q628* probably null Het
Smg6 T G 11: 74,823,252 (GRCm39) I708S probably damaging Het
Speer4c1 A C 5: 15,919,214 (GRCm39) probably benign Het
Thap1 C G 8: 26,652,498 (GRCm39) P79A probably benign Het
Vmn1r202 G A 13: 22,685,640 (GRCm39) T259I 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
ANU74:Pam16 UTSW 16 4,434,497 (GRCm39) missense probably damaging 1.00
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'- TAGCTGTAAAGGCTACCTCCTG -3'
(R):5'- AGGATGCCACATATTTCCCC -3'

Sequencing Primer
(F):5'- GTAAAGGCTACCTCCTGATTCC -3'
(R):5'- GGATGCCACATATTTCCCCTCCTAC -3'
Posted On 2017-01-31