Incidental Mutation 'IGL01095:Adam34l'
ID 51753
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Adam34l
Ensembl Gene ENSMUSG00000050190
Gene Name a disintegrin and metallopeptidase domain 34 like
Synonyms Gm5346
Accession Numbers
Essential gene? Probably non essential (E-score: 0.056) question?
Stock # IGL01095
Quality Score
Status
Chromosome 8
Chromosomal Location 44077988-44080313 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 44079133 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Leucine at position 364 (I364L)
Ref Sequence ENSEMBL: ENSMUSP00000058858 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000056023]
AlphaFold Q7M766
Predicted Effect probably benign
Transcript: ENSMUST00000056023
AA Change: I364L

PolyPhen 2 Score 0.220 (Sensitivity: 0.91; Specificity: 0.88)
SMART Domains Protein: ENSMUSP00000058858
Gene: ENSMUSG00000050190
AA Change: I364L

DomainStartEndE-ValueType
transmembrane domain 13 32 N/A INTRINSIC
Pfam:Pep_M12B_propep 39 159 1.3e-18 PFAM
Pfam:Reprolysin_5 205 384 1.1e-15 PFAM
Pfam:Reprolysin_4 205 393 6.2e-9 PFAM
Pfam:Reprolysin 207 397 1.7e-46 PFAM
Pfam:Reprolysin_2 223 389 5.7e-14 PFAM
Pfam:Reprolysin_3 231 352 2.6e-13 PFAM
DISIN 416 491 2.48e-38 SMART
ACR 492 628 3.4e-65 SMART
EGF 634 664 2.69e1 SMART
transmembrane domain 685 707 N/A INTRINSIC
Meta Mutation Damage Score 0.0898 question?
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 38 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adgra1 A G 7: 139,425,570 (GRCm39) T28A possibly damaging Het
Aldh8a1 A G 10: 21,265,180 (GRCm39) E269G probably benign Het
Alkbh7 A G 17: 57,304,470 (GRCm39) probably null Het
Ap1g2 T C 14: 55,342,571 (GRCm39) T129A probably benign Het
Ap1s1 A G 5: 137,070,663 (GRCm39) I117T probably damaging Het
Brca1 G A 11: 101,415,195 (GRCm39) P119S possibly damaging Het
Chid1 A G 7: 141,110,142 (GRCm39) V62A probably damaging Het
Cpa1 A T 6: 30,642,968 (GRCm39) I299F probably benign Het
Cuzd1 A G 7: 130,917,865 (GRCm39) V245A probably damaging Het
Ddx39b T C 17: 35,465,937 (GRCm39) S71P probably benign Het
Ddx42 A G 11: 106,138,325 (GRCm39) Y708C probably damaging Het
Dnah3 C A 7: 119,550,820 (GRCm39) L3166F probably benign Het
Erap1 A G 13: 74,816,213 (GRCm39) E114G probably benign Het
Fap G A 2: 62,354,545 (GRCm39) T448I possibly damaging Het
Fhl2 A T 1: 43,170,841 (GRCm39) Y158N probably benign Het
Fscb A G 12: 64,520,155 (GRCm39) V437A possibly damaging Het
Il18 A T 9: 50,490,629 (GRCm39) D88V probably damaging Het
Il5ra A T 6: 106,719,605 (GRCm39) probably benign Het
Jakmip3 A T 7: 138,622,546 (GRCm39) Q302L probably damaging Het
Lrp2 A T 2: 69,322,776 (GRCm39) Y1857* probably null Het
Meis2 T C 2: 115,694,905 (GRCm39) T406A probably benign Het
Mre11a T A 9: 14,721,120 (GRCm39) S346R probably benign Het
Myh15 A T 16: 48,952,378 (GRCm39) K816M probably damaging Het
Mysm1 C T 4: 94,856,106 (GRCm39) probably null Het
Nyap1 C A 5: 137,736,346 (GRCm39) R47L probably damaging Het
Oas3 A G 5: 120,910,954 (GRCm39) Y209H probably damaging Het
Or2v2 T G 11: 49,003,680 (GRCm39) Y291S probably damaging Het
Or4g16 A G 2: 111,136,966 (GRCm39) R139G probably benign Het
Or6c209 A G 10: 129,483,498 (GRCm39) D167G probably benign Het
Or8b42 A G 9: 38,341,811 (GRCm39) I78V probably benign Het
Or8d6 T C 9: 39,853,976 (GRCm39) V140A probably benign Het
Pde4b T C 4: 102,363,241 (GRCm39) probably null Het
Psd3 G A 8: 68,361,165 (GRCm39) T99M probably damaging Het
R3hcc1 T C 14: 69,937,477 (GRCm39) E390G probably damaging Het
Rabgap1l A C 1: 160,566,539 (GRCm39) C58W probably benign Het
Rasd1 A G 11: 59,855,117 (GRCm39) I121T probably damaging Het
Spta1 A G 1: 174,041,051 (GRCm39) N1284D probably benign Het
Tpr T C 1: 150,285,891 (GRCm39) V525A possibly damaging Het
Other mutations in Adam34l
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00321:Adam34l APN 8 44,078,418 (GRCm39) missense probably benign 0.12
IGL00391:Adam34l APN 8 44,078,666 (GRCm39) missense probably damaging 1.00
IGL00422:Adam34l APN 8 44,079,388 (GRCm39) missense probably damaging 1.00
IGL00664:Adam34l APN 8 44,079,006 (GRCm39) missense probably benign
IGL01113:Adam34l APN 8 44,079,189 (GRCm39) missense probably damaging 1.00
IGL01444:Adam34l APN 8 44,079,470 (GRCm39) missense probably benign 0.06
IGL01782:Adam34l APN 8 44,079,772 (GRCm39) missense probably benign 0.01
IGL01921:Adam34l APN 8 44,078,548 (GRCm39) missense probably damaging 0.96
IGL01964:Adam34l APN 8 44,079,798 (GRCm39) missense probably benign 0.00
IGL02139:Adam34l APN 8 44,078,615 (GRCm39) missense probably benign 0.01
IGL02555:Adam34l APN 8 44,078,305 (GRCm39) missense probably damaging 1.00
IGL02951:Adam34l APN 8 44,080,125 (GRCm39) missense possibly damaging 0.62
R0056:Adam34l UTSW 8 44,078,540 (GRCm39) nonsense probably null
R0218:Adam34l UTSW 8 44,079,477 (GRCm39) missense probably benign 0.00
R0530:Adam34l UTSW 8 44,079,568 (GRCm39) missense probably benign 0.00
R0925:Adam34l UTSW 8 44,079,340 (GRCm39) missense probably benign 0.11
R0927:Adam34l UTSW 8 44,078,160 (GRCm39) missense probably benign 0.00
R0975:Adam34l UTSW 8 44,078,155 (GRCm39) missense probably benign
R1300:Adam34l UTSW 8 44,079,881 (GRCm39) nonsense probably null
R1728:Adam34l UTSW 8 44,078,620 (GRCm39) missense probably damaging 1.00
R1729:Adam34l UTSW 8 44,078,620 (GRCm39) missense probably damaging 1.00
R1801:Adam34l UTSW 8 44,078,954 (GRCm39) nonsense probably null
R1869:Adam34l UTSW 8 44,078,132 (GRCm39) nonsense probably null
R1870:Adam34l UTSW 8 44,078,132 (GRCm39) nonsense probably null
R1871:Adam34l UTSW 8 44,078,132 (GRCm39) nonsense probably null
R1992:Adam34l UTSW 8 44,080,176 (GRCm39) missense probably benign 0.44
R2008:Adam34l UTSW 8 44,080,074 (GRCm39) missense probably benign 0.00
R2013:Adam34l UTSW 8 44,079,442 (GRCm39) missense possibly damaging 0.81
R2022:Adam34l UTSW 8 44,078,954 (GRCm39) nonsense probably null
R2175:Adam34l UTSW 8 44,078,475 (GRCm39) missense probably benign
R2875:Adam34l UTSW 8 44,080,177 (GRCm39) nonsense probably null
R3406:Adam34l UTSW 8 44,079,089 (GRCm39) nonsense probably null
R3845:Adam34l UTSW 8 44,079,669 (GRCm39) missense probably benign 0.00
R4033:Adam34l UTSW 8 44,079,710 (GRCm39) missense probably benign 0.28
R4072:Adam34l UTSW 8 44,079,387 (GRCm39) missense probably damaging 1.00
R4074:Adam34l UTSW 8 44,079,387 (GRCm39) missense probably damaging 1.00
R4075:Adam34l UTSW 8 44,079,387 (GRCm39) missense probably damaging 1.00
R4076:Adam34l UTSW 8 44,079,387 (GRCm39) missense probably damaging 1.00
R4153:Adam34l UTSW 8 44,079,564 (GRCm39) missense probably benign 0.04
R4330:Adam34l UTSW 8 44,079,287 (GRCm39) missense probably benign
R4612:Adam34l UTSW 8 44,079,587 (GRCm39) missense probably benign 0.09
R4662:Adam34l UTSW 8 44,080,116 (GRCm39) missense probably benign 0.26
R5032:Adam34l UTSW 8 44,079,508 (GRCm39) missense probably damaging 1.00
R5077:Adam34l UTSW 8 44,080,200 (GRCm39) missense possibly damaging 0.79
R5504:Adam34l UTSW 8 44,078,319 (GRCm39) missense probably damaging 1.00
R5697:Adam34l UTSW 8 44,079,616 (GRCm39) missense probably damaging 1.00
R6232:Adam34l UTSW 8 44,078,949 (GRCm39) missense probably benign 0.00
R6233:Adam34l UTSW 8 44,078,949 (GRCm39) missense probably benign 0.00
R6234:Adam34l UTSW 8 44,078,949 (GRCm39) missense probably benign 0.00
R6235:Adam34l UTSW 8 44,078,949 (GRCm39) missense probably benign 0.00
R6241:Adam34l UTSW 8 44,079,133 (GRCm39) missense probably benign 0.22
R6392:Adam34l UTSW 8 44,079,038 (GRCm39) missense probably benign 0.09
R6439:Adam34l UTSW 8 44,078,988 (GRCm39) missense probably damaging 1.00
R6454:Adam34l UTSW 8 44,079,845 (GRCm39) missense probably damaging 0.96
R6455:Adam34l UTSW 8 44,079,189 (GRCm39) missense probably damaging 1.00
R6767:Adam34l UTSW 8 44,079,951 (GRCm39) missense probably damaging 1.00
R6774:Adam34l UTSW 8 44,078,220 (GRCm39) missense probably benign 0.00
R6877:Adam34l UTSW 8 44,078,274 (GRCm39) missense probably benign 0.02
R6911:Adam34l UTSW 8 44,078,146 (GRCm39) missense probably benign 0.02
R7211:Adam34l UTSW 8 44,078,914 (GRCm39) missense probably damaging 1.00
R7597:Adam34l UTSW 8 44,078,281 (GRCm39) missense probably damaging 1.00
R7602:Adam34l UTSW 8 44,079,703 (GRCm39) missense probably damaging 0.99
R7797:Adam34l UTSW 8 44,079,411 (GRCm39) missense probably benign 0.04
R7981:Adam34l UTSW 8 44,078,850 (GRCm39) missense probably damaging 1.00
R8154:Adam34l UTSW 8 44,078,424 (GRCm39) missense probably damaging 0.97
R8215:Adam34l UTSW 8 44,079,538 (GRCm39) missense probably benign 0.05
R9180:Adam34l UTSW 8 44,079,970 (GRCm39) nonsense probably null
R9307:Adam34l UTSW 8 44,079,304 (GRCm39) missense probably benign 0.00
R9733:Adam34l UTSW 8 44,079,186 (GRCm39) missense possibly damaging 0.94
RF001:Adam34l UTSW 8 44,079,942 (GRCm39) missense possibly damaging 0.79
Z1177:Adam34l UTSW 8 44,079,583 (GRCm39) missense probably damaging 0.99
Posted On 2013-06-21