Incidental Mutation 'R5032:Adam34l'
ID 391759
Institutional Source Beutler Lab
Gene Symbol Adam34l
Ensembl Gene ENSMUSG00000050190
Gene Name a disintegrin and metallopeptidase domain 34 like
Synonyms Gm5346
MMRRC Submission 042623-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.056) question?
Stock # R5032 (G1)
Quality Score 225
Status Validated
Chromosome 8
Chromosomal Location 44077988-44080313 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 44079508 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Asparagine to Aspartic acid at position 239 (N239D)
Ref Sequence ENSEMBL: ENSMUSP00000058858 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000056023]
AlphaFold Q7M766
Predicted Effect probably damaging
Transcript: ENSMUST00000056023
AA Change: N239D

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000058858
Gene: ENSMUSG00000050190
AA Change: N239D

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 0.6467 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.5%
  • 10x: 96.6%
  • 20x: 93.0%
Validation Efficiency 97% (77/79)
Allele List at MGI
Other mutations in this stock
Total: 70 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700012B07Rik G T 11: 109,684,980 (GRCm39) C172* probably null Het
Actl9 A G 17: 33,653,062 (GRCm39) N374S probably benign Het
Ahcyl2 T A 6: 29,768,555 (GRCm39) probably benign Het
Arfgef2 T C 2: 166,720,464 (GRCm39) M1501T probably benign Het
Asb17 A T 3: 153,550,175 (GRCm39) D69V probably damaging Het
Atp13a5 T C 16: 29,082,202 (GRCm39) Y877C probably damaging Het
Atrip T C 9: 108,894,271 (GRCm39) Q64R probably benign Het
Auts2 A G 5: 131,505,730 (GRCm39) probably benign Het
Cacna2d1 G T 5: 16,564,068 (GRCm39) R893L probably damaging Het
Ccdc138 C T 10: 58,409,458 (GRCm39) R596C probably damaging Het
Cd163 A G 6: 124,288,628 (GRCm39) Y353C probably damaging Het
Cdon T C 9: 35,400,330 (GRCm39) Y1015H probably damaging Het
Chsy3 T C 18: 59,312,543 (GRCm39) Y339H probably damaging Het
Cspp1 T C 1: 10,136,744 (GRCm39) W190R probably benign Het
Ddx1 A T 12: 13,273,993 (GRCm39) I570N probably damaging Het
Duox1 G A 2: 122,167,798 (GRCm39) R1027H probably benign Het
Dync1h1 C T 12: 110,593,326 (GRCm39) Q1198* probably null Het
Ecel1 G A 1: 87,081,975 (GRCm39) S246L probably damaging Het
Fam228b T G 12: 4,813,042 (GRCm39) R109S probably damaging Het
Fut9 T A 4: 25,799,245 (GRCm39) probably benign Het
Gm5592 A G 7: 40,939,159 (GRCm39) R814G probably damaging Het
Gmps A G 3: 63,897,746 (GRCm39) K233E probably benign Het
Gramd1c A G 16: 43,811,026 (GRCm39) Y438H probably damaging Het
Gsdmc A T 15: 63,673,882 (GRCm39) D134E possibly damaging Het
Gxylt2 A G 6: 100,760,142 (GRCm39) I226V probably benign Het
Hc T C 2: 34,903,544 (GRCm39) I1037V probably benign Het
Hspa4 T G 11: 53,179,950 (GRCm39) R69S possibly damaging Het
Hspg2 C T 4: 137,246,251 (GRCm39) R1010C probably damaging Het
Kifc3 A G 8: 95,829,354 (GRCm39) S508P probably damaging Het
Krt7 G A 15: 101,310,428 (GRCm39) R25H probably benign Het
Lhfpl6 T A 3: 52,950,854 (GRCm39) S43T possibly damaging Het
Lrrc7 T A 3: 157,887,217 (GRCm39) K394N possibly damaging Het
Lypd4 A T 7: 24,566,240 (GRCm39) L28Q probably damaging Het
Mdc1 A G 17: 36,161,481 (GRCm39) E798G probably benign Het
Mta1 T A 12: 113,097,145 (GRCm39) probably null Het
Mtg2 A T 2: 179,725,183 (GRCm39) Q132L possibly damaging Het
Myh1 G T 11: 67,096,874 (GRCm39) E382* probably null Het
Myo3a T C 2: 22,287,413 (GRCm39) L175P probably damaging Het
Nckap5 A T 1: 125,904,786 (GRCm39) F144L possibly damaging Het
Nfrkb T A 9: 31,300,351 (GRCm39) probably null Het
Nmt2 C T 2: 3,285,429 (GRCm39) P5L probably benign Het
Nsmf T C 2: 24,945,073 (GRCm39) probably null Het
Oprl1 C T 2: 181,360,795 (GRCm39) R257C probably damaging Het
Or51q1 A T 7: 103,628,581 (GRCm39) M61L probably damaging Het
Or5a1 T A 19: 12,097,420 (GRCm39) I219F probably benign Het
Pcdhgc3 T A 18: 37,940,638 (GRCm39) N346K probably damaging Het
Pcnt G A 10: 76,190,911 (GRCm39) P2791S probably benign Het
Pdia3 A G 2: 121,244,620 (GRCm39) N11S probably benign Het
Pik3c2g A T 6: 139,841,928 (GRCm39) T778S probably benign Het
Pik3ip1 T A 11: 3,283,520 (GRCm39) I75N probably damaging Het
Pla2g4d A T 2: 120,112,176 (GRCm39) Y118* probably null Het
Ppargc1b A G 18: 61,440,336 (GRCm39) S845P probably damaging Het
Prdm2 A T 4: 142,905,937 (GRCm39) L50* probably null Het
Ptpro T A 6: 137,420,592 (GRCm39) V1007D probably damaging Het
Pxdn G A 12: 30,053,140 (GRCm39) V926I probably benign Het
Rab11fip2 A T 19: 59,925,799 (GRCm39) N139K probably damaging Het
Rcn2 T A 9: 55,960,300 (GRCm39) M189K probably damaging Het
Rev1 A T 1: 38,113,570 (GRCm39) probably benign Het
Rhbg C A 3: 88,152,441 (GRCm39) G368C probably damaging Het
Rnf214 A G 9: 45,811,042 (GRCm39) probably null Het
Sf3a3 T C 4: 124,618,959 (GRCm39) S307P probably benign Het
Slc6a18 T A 13: 73,814,442 (GRCm39) Y494F probably damaging Het
Son T C 16: 91,454,552 (GRCm39) S1100P probably damaging Het
Spag16 T G 1: 69,892,511 (GRCm39) N97K probably benign Het
Tmem192 T C 8: 65,412,163 (GRCm39) V114A possibly damaging Het
Urb1 G T 16: 90,553,059 (GRCm39) P1901T probably benign Het
Vwa5b2 A G 16: 20,419,459 (GRCm39) T601A probably damaging Het
Wdtc1 G T 4: 133,036,162 (GRCm39) T126K possibly damaging Het
Xirp2 T C 2: 67,356,014 (GRCm39) Y3592H possibly damaging Het
Xylt2 A T 11: 94,560,842 (GRCm39) V232E probably 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
IGL01095:Adam34l APN 8 44,079,133 (GRCm39) missense probably benign 0.22
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
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
Predicted Primers PCR Primer
(F):5'- TGATATCATGTCTAACACGATTGCC -3'
(R):5'- ACAGTGGGGAGTCAGAACCATC -3'

Sequencing Primer
(F):5'- CAATCGCATTTTTCTTCCAACTACAG -3'
(R):5'- GGAGTCAGAACCATCTCCCATGAG -3'
Posted On 2016-06-06