Incidental Mutation 'R6624:Iah1'
ID 524685
Institutional Source Beutler Lab
Gene Symbol Iah1
Ensembl Gene ENSMUSG00000062054
Gene Name isoamyl acetate-hydrolyzing esterase 1 homolog
Synonyms 1500019E20Rik, 4833421E05Rik
MMRRC Submission 044746-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R6624 (G1)
Quality Score 222.009
Status Validated
Chromosome 12
Chromosomal Location 21366363-21373608 bp(+) (GRCm39)
Type of Mutation nonsense
DNA Base Change (assembly) C to T at 21369785 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glutamine to Stop codon at position 100 (Q100*)
Ref Sequence ENSEMBL: ENSMUSP00000152708 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000064536] [ENSMUST00000067284] [ENSMUST00000076813] [ENSMUST00000101551] [ENSMUST00000127974] [ENSMUST00000145118] [ENSMUST00000221693] [ENSMUST00000223345] [ENSMUST00000232107]
AlphaFold Q9DB29
Predicted Effect probably benign
Transcript: ENSMUST00000064536
SMART Domains Protein: ENSMUSP00000067953
Gene: ENSMUSG00000052593

DomainStartEndE-ValueType
signal peptide 1 17 N/A INTRINSIC
Pfam:Pep_M12B_propep 28 167 1.1e-11 PFAM
Pfam:Reprolysin_5 221 451 6.7e-37 PFAM
Pfam:Reprolysin_4 221 469 3.2e-24 PFAM
Pfam:Reprolysin_2 244 464 8.8e-29 PFAM
Pfam:Reprolysin_3 248 416 1.2e-12 PFAM
Pfam:Reprolysin 383 474 3.1e-9 PFAM
DISIN 484 561 6.27e-26 SMART
PDB:2M2F|A 581 642 4e-32 PDB
transmembrane domain 672 694 N/A INTRINSIC
low complexity region 739 755 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000067284
SMART Domains Protein: ENSMUSP00000068148
Gene: ENSMUSG00000054309

DomainStartEndE-ValueType
Lactamase_B 24 234 8.27e-12 SMART
Beta-Casp 246 367 7.32e-45 SMART
Pfam:RMMBL 380 422 9.9e-17 PFAM
CPSF73-100_C 477 683 6.78e-81 SMART
Predicted Effect probably null
Transcript: ENSMUST00000076813
AA Change: Q100*
SMART Domains Protein: ENSMUSP00000076090
Gene: ENSMUSG00000062054
AA Change: Q100*

DomainStartEndE-ValueType
Pfam:Lipase_GDSL 18 213 1.3e-34 PFAM
Pfam:Lipase_GDSL_2 19 209 2.8e-27 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000101551
SMART Domains Protein: ENSMUSP00000099087
Gene: ENSMUSG00000052593

DomainStartEndE-ValueType
signal peptide 1 17 N/A INTRINSIC
Pfam:Pep_M12B_propep 31 167 9.7e-15 PFAM
Pfam:Reprolysin_5 221 470 5e-34 PFAM
Pfam:Reprolysin_4 221 488 6.1e-20 PFAM
Pfam:Reprolysin_2 264 483 2.6e-34 PFAM
Pfam:Reprolysin_3 267 435 2.8e-14 PFAM
Pfam:Reprolysin 330 493 5.3e-9 PFAM
DISIN 503 580 6.27e-26 SMART
Pfam:ADAM17_MPD 600 661 1e-23 PFAM
transmembrane domain 691 713 N/A INTRINSIC
low complexity region 758 774 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000127974
SMART Domains Protein: ENSMUSP00000136677
Gene: ENSMUSG00000052593

DomainStartEndE-ValueType
signal peptide 1 17 N/A INTRINSIC
Pfam:Pep_M12B_propep 25 167 9.1e-13 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000145118
SMART Domains Protein: ENSMUSP00000136407
Gene: ENSMUSG00000052593

DomainStartEndE-ValueType
signal peptide 1 17 N/A INTRINSIC
Pfam:Pep_M12B_propep 28 167 7.5e-12 PFAM
Pfam:Reprolysin_5 221 451 4.2e-37 PFAM
Pfam:Reprolysin_4 221 469 2e-24 PFAM
Pfam:Reprolysin_2 244 464 5.6e-29 PFAM
Pfam:Reprolysin_3 248 416 7.8e-13 PFAM
Pfam:Reprolysin 381 474 2.2e-9 PFAM
DISIN 484 561 6.27e-26 SMART
PDB:2M2F|A 581 638 5e-29 PDB
Predicted Effect probably null
Transcript: ENSMUST00000221693
AA Change: Q101*
Predicted Effect probably null
Transcript: ENSMUST00000222344
AA Change: Q98*
Predicted Effect probably null
Transcript: ENSMUST00000223345
AA Change: Q100*
Predicted Effect probably benign
Transcript: ENSMUST00000221042
Predicted Effect probably benign
Transcript: ENSMUST00000232107
Meta Mutation Damage Score 0.9755 question?
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.5%
  • 10x: 97.6%
  • 20x: 92.6%
Validation Efficiency 100% (32/32)
Allele List at MGI
Other mutations in this stock
Total: 32 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Ank3 G A 10: 69,740,298 (GRCm39) E852K possibly damaging Het
Cib3 T A 8: 72,959,582 (GRCm39) I96F probably damaging Het
Ckap5 C T 2: 91,407,996 (GRCm39) P841S probably benign Het
Col25a1 A G 3: 130,360,100 (GRCm39) probably null Het
Col27a1 A T 4: 63,143,248 (GRCm39) H312L probably benign Het
Cyp2j7 A G 4: 96,115,855 (GRCm39) I197T probably damaging Het
Cyp4f40 C T 17: 32,890,154 (GRCm39) R275C possibly damaging Het
Eif3l T C 15: 78,974,129 (GRCm39) S515P probably damaging Het
Enpp1 A T 10: 24,545,653 (GRCm39) Y262* probably null Het
Ergic3 T A 2: 155,858,818 (GRCm39) M286K probably damaging Het
Ern2 C T 7: 121,777,006 (GRCm39) A305T probably benign Het
Fam187b A G 7: 30,676,612 (GRCm39) I40M probably benign Het
Fcho1 T G 8: 72,162,015 (GRCm39) K798T probably damaging Het
Jak2 T C 19: 29,259,989 (GRCm39) I296T probably damaging Het
Lats2 A G 14: 57,931,769 (GRCm39) probably null Het
Lrriq4 A T 3: 30,704,929 (GRCm39) H319L probably benign Het
Man2b1 A G 8: 85,823,482 (GRCm39) N939D probably benign Het
Meis1 T C 11: 18,966,215 (GRCm39) T53A probably benign Het
Nadsyn1 C T 7: 143,359,710 (GRCm39) E421K probably benign Het
Or10a3m T C 7: 108,312,743 (GRCm39) I49T possibly damaging Het
Otx1 C A 11: 21,947,037 (GRCm39) A91S probably damaging Het
Pmfbp1 T C 8: 110,256,822 (GRCm39) S509P possibly damaging Het
Pou4f3 A T 18: 42,528,707 (GRCm39) I217F probably damaging Het
Ppara C A 15: 85,675,237 (GRCm39) N235K probably benign Het
Prrg2 T C 7: 44,709,410 (GRCm39) Y73C probably damaging Het
Sdccag8 T A 1: 176,702,378 (GRCm39) probably null Het
Thap12 T G 7: 98,364,793 (GRCm39) Y320* probably null Het
Trpm6 A G 19: 18,773,803 (GRCm39) probably null Het
Trpm6 T A 19: 18,866,384 (GRCm39) C1978S probably damaging Het
Usp33 A G 3: 152,087,435 (GRCm39) Y708C probably damaging Het
Wdr3 G A 3: 100,051,642 (GRCm39) T669M probably damaging Het
Zdbf2 T C 1: 63,343,073 (GRCm39) I484T possibly damaging Het
Other mutations in Iah1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02082:Iah1 APN 12 21,367,405 (GRCm39) nonsense probably null
IGL02487:Iah1 APN 12 21,371,440 (GRCm39) missense probably damaging 1.00
R4684:Iah1 UTSW 12 21,366,434 (GRCm39) start codon destroyed probably null 0.99
R4872:Iah1 UTSW 12 21,367,426 (GRCm39) missense probably benign 0.06
R5089:Iah1 UTSW 12 21,373,309 (GRCm39) missense possibly damaging 0.64
R8810:Iah1 UTSW 12 21,367,388 (GRCm39) missense probably benign 0.30
R9006:Iah1 UTSW 12 21,367,402 (GRCm39) missense probably damaging 1.00
R9007:Iah1 UTSW 12 21,367,402 (GRCm39) missense probably damaging 1.00
R9666:Iah1 UTSW 12 21,366,587 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- TTCCCTTCCCAGTCTGACATAAAAC -3'
(R):5'- CACCTCAGCTGTGATCGATG -3'

Sequencing Primer
(F):5'- AAGATCTCTGAGTTCTAGGCCAGC -3'
(R):5'- TCAGCTGTGATCGATGCCCAC -3'
Posted On 2018-06-22