Incidental Mutation 'R6454:Adam34l'
ID 519485
Institutional Source Beutler Lab
Gene Symbol Adam34l
Ensembl Gene ENSMUSG00000050190
Gene Name a disintegrin and metallopeptidase domain 34 like
Synonyms Gm5346
MMRRC Submission 044590-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.056) question?
Stock # R6454 (G1)
Quality Score 225.009
Status Validated
Chromosome 8
Chromosomal Location 44077988-44080313 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to T at 44079845 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Asparagine to Lysine at position 126 (N126K)
Ref Sequence ENSEMBL: ENSMUSP00000058858 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000056023]
AlphaFold Q7M766
Predicted Effect probably damaging
Transcript: ENSMUST00000056023
AA Change: N126K

PolyPhen 2 Score 0.961 (Sensitivity: 0.78; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000058858
Gene: ENSMUSG00000050190
AA Change: N126K

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: 99.9%
  • 3x: 99.6%
  • 10x: 98.1%
  • 20x: 94.1%
Validation Efficiency 100% (63/63)
Allele List at MGI
Other mutations in this stock
Total: 63 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Arid2 C T 15: 96,270,294 (GRCm39) T1469I probably benign Het
Atp12a A G 14: 56,608,290 (GRCm39) T93A probably benign Het
Atp8a2 A T 14: 60,245,948 (GRCm39) probably null Het
Casz1 A T 4: 149,035,952 (GRCm39) I1405F probably damaging Het
Chrnb3 T C 8: 27,883,403 (GRCm39) S100P probably damaging Het
Creld2 T A 15: 88,707,274 (GRCm39) C197* probably null Het
Csmd1 A T 8: 15,971,150 (GRCm39) F3055Y probably damaging Het
Dnah11 T A 12: 117,880,590 (GRCm39) E3843D probably benign Het
Dnah14 T C 1: 181,611,270 (GRCm39) S3799P probably damaging Het
Dpp9 A T 17: 56,513,808 (GRCm39) L102Q probably damaging Het
Eipr1 T G 12: 28,914,761 (GRCm39) I305S probably damaging Het
Enpp5 G A 17: 44,396,155 (GRCm39) G356S probably damaging Het
Faf1 G T 4: 109,699,531 (GRCm39) A359S probably benign Het
Fam13b A G 18: 34,590,715 (GRCm39) probably null Het
Gm14496 A T 2: 181,638,015 (GRCm39) N363I probably damaging Het
Grm8 T G 6: 27,363,775 (GRCm39) H580P possibly damaging Het
Itih5 T C 2: 10,245,479 (GRCm39) F523L probably benign Het
Klhl1 A T 14: 96,517,527 (GRCm39) M383K possibly damaging Het
Lgi4 A T 7: 30,759,557 (GRCm39) T38S probably benign Het
Myh13 T A 11: 67,241,191 (GRCm39) M856K probably benign Het
Myo7a C T 7: 97,722,374 (GRCm39) V1184M probably benign Het
Nlrp9c G A 7: 26,085,199 (GRCm39) R127C possibly damaging Het
Notch2 T C 3: 98,044,722 (GRCm39) I1548T possibly damaging Het
Nphs2 T A 1: 156,146,337 (GRCm39) H179Q probably damaging Het
Nup153 T C 13: 46,863,136 (GRCm39) probably null Het
Nup50l T G 6: 96,142,609 (GRCm39) H145P possibly damaging Het
Odf2l C A 3: 144,859,181 (GRCm39) Q517K possibly damaging Het
Omd A T 13: 49,743,345 (GRCm39) I132F probably damaging Het
Or10d1b A G 9: 39,613,130 (GRCm39) *312Q probably null Het
Or4a81 T C 2: 89,619,522 (GRCm39) Y58C probably damaging Het
Or5b12 T A 19: 12,897,395 (GRCm39) N93Y probably benign Het
Or9g19 A G 2: 85,600,717 (GRCm39) K191E probably benign Het
Otog A G 7: 45,955,241 (GRCm39) N544D probably damaging Het
Ovol3 A G 7: 29,934,800 (GRCm39) Y29H probably damaging Het
Papolb T C 5: 142,515,353 (GRCm39) K97E possibly damaging Het
Pcdhb19 G T 18: 37,632,322 (GRCm39) V706L probably benign Het
Pira1 C G 7: 3,740,319 (GRCm39) A301P probably damaging Het
Plekhm1 G A 11: 103,268,208 (GRCm39) R588C probably damaging Het
Pnpla6 G T 8: 3,587,986 (GRCm39) V1062L probably damaging Het
Ppp1r9a T A 6: 4,905,827 (GRCm39) F127L probably damaging Het
Rigi T A 4: 40,220,456 (GRCm39) I476F probably damaging Het
Rnf5 A C 17: 34,821,283 (GRCm39) C47W probably damaging Het
Sbno1 A T 5: 124,538,910 (GRCm39) M517K probably damaging Het
Slc44a5 C T 3: 153,948,796 (GRCm39) T188M probably benign Het
Smco1 A G 16: 32,092,041 (GRCm39) T40A possibly damaging Het
Speer4f2 A T 5: 17,579,431 (GRCm39) I77F probably damaging Het
Spem2 A G 11: 69,708,254 (GRCm39) L237P probably damaging Het
Spg7 A G 8: 123,806,162 (GRCm39) K291E possibly damaging Het
Tent5b A G 4: 133,207,720 (GRCm39) D37G probably damaging Het
Tiam2 A T 17: 3,488,938 (GRCm39) T749S probably benign Het
Tln1 T C 4: 43,533,866 (GRCm39) K2291E probably damaging Het
Tm6sf1 A G 7: 81,525,801 (GRCm39) M294V probably damaging Het
Tmem35b T C 4: 127,022,811 (GRCm39) *138R probably null Het
Tpst1 A G 5: 130,130,892 (GRCm39) K121E possibly damaging Het
Tsc22d2 T A 3: 58,323,261 (GRCm39) V51D possibly damaging Het
Tshr C A 12: 91,505,323 (GRCm39) Q754K probably benign Het
Ttc38 T A 15: 85,723,023 (GRCm39) M157K probably damaging Het
Ube2g2 T G 10: 77,470,580 (GRCm39) probably benign Het
Ugt2b37 T G 5: 87,388,836 (GRCm39) D459A probably damaging Het
Usp35 A T 7: 96,960,851 (GRCm39) Y858* probably null Het
Usp35 A T 7: 96,960,767 (GRCm39) N886K probably damaging Het
Wdr33 T C 18: 31,963,028 (GRCm39) V125A possibly damaging Het
Xpnpep1 G A 19: 52,986,310 (GRCm39) T506I 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
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
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
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'- AAAGAGTGGAGGCATTGCTTTC -3'
(R):5'- TCCTATAGCCTGAGCATTGGG -3'

Sequencing Primer
(F):5'- AGGCATTGCTTTCCTGAAGG -3'
(R):5'- ACCAAGGTGATCTCCTTG -3'
Posted On 2018-05-24