Incidental Mutation 'R4076:Adam34l'
ID 316567
Institutional Source Beutler Lab
Gene Symbol Adam34l
Ensembl Gene ENSMUSG00000050190
Gene Name a disintegrin and metallopeptidase domain 34 like
Synonyms Gm5346
MMRRC Submission 040975-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.056) question?
Stock # R4076 (G1)
Quality Score 225
Status Not validated
Chromosome 8
Chromosomal Location 44077988-44080313 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 44079387 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Phenylalanine to Tyrosine at position 279 (F279Y)
Ref Sequence ENSEMBL: ENSMUSP00000058858 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000056023]
AlphaFold Q7M766
Predicted Effect probably damaging
Transcript: ENSMUST00000056023
AA Change: F279Y

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000058858
Gene: ENSMUSG00000050190
AA Change: F279Y

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: 98.7%
  • 10x: 97.5%
  • 20x: 95.9%
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 38 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acsm4 T A 7: 119,297,981 (GRCm39) L206H probably benign Het
Anxa5 T C 3: 36,504,529 (GRCm39) I277V probably benign Het
Atg12 A G 18: 46,870,491 (GRCm39) F92L probably benign Het
Cd48 T A 1: 171,523,451 (GRCm39) V98D probably damaging Het
Dnah11 A G 12: 118,009,413 (GRCm39) M2083T probably benign Het
Dnah9 T C 11: 65,975,730 (GRCm39) T1440A probably benign Het
Dnali1 T C 4: 124,953,263 (GRCm39) D188G probably damaging Het
Dst A G 1: 34,231,350 (GRCm39) E2656G probably benign Het
Eps15l1 A G 8: 73,134,128 (GRCm39) I482T probably damaging Het
Ercc4 G A 16: 12,948,549 (GRCm39) V499I probably damaging Het
Eva1c T A 16: 90,701,019 (GRCm39) F331Y probably damaging Het
Fcho1 T C 8: 72,163,013 (GRCm39) H672R probably damaging Het
Fras1 G C 5: 96,891,017 (GRCm39) D2849H probably damaging Het
Hdc C T 2: 126,458,181 (GRCm39) R47Q possibly damaging Het
Ighv1-30 C T 12: 114,781,021 (GRCm39) noncoding transcript Het
Krtap31-1 T C 11: 99,799,058 (GRCm39) I87T possibly damaging Het
Lamp3 A G 16: 19,519,466 (GRCm39) L239P possibly damaging Het
Ltb4r2 A T 14: 56,000,398 (GRCm39) R340W probably benign Het
Map10 T C 8: 126,398,584 (GRCm39) V659A probably benign Het
Nars2 T A 7: 96,607,301 (GRCm39) S91T probably damaging Het
Nlrp4c A G 7: 6,075,709 (GRCm39) K667E probably benign Het
Obox3 G T 7: 15,359,724 (GRCm39) T315N possibly damaging Het
Or52e18 A T 7: 104,609,923 (GRCm39) N5K probably damaging Het
Or5b3 G A 19: 13,388,299 (GRCm39) R122H possibly damaging Het
Osgin1 A C 8: 120,171,772 (GRCm39) S189R possibly damaging Het
Pidd1 A G 7: 141,020,739 (GRCm39) F453L probably damaging Het
Pik3c2g A T 6: 139,798,589 (GRCm39) N373I probably damaging Het
Pou2f2 T C 7: 24,796,713 (GRCm39) T270A probably damaging Het
Rad51b T G 12: 79,361,656 (GRCm39) S122R probably damaging Het
Rev1 T G 1: 38,093,319 (GRCm39) K1075T possibly damaging Het
Rrbp1 T G 2: 143,805,030 (GRCm39) Q1045P probably benign Het
Scg2 A C 1: 79,414,574 (GRCm39) F50V probably damaging Het
Slco1a5 A T 6: 142,213,950 (GRCm39) I57K possibly damaging Het
Tfb1m T A 17: 3,571,945 (GRCm39) R257W probably damaging Het
Tm2d3 T A 7: 65,347,498 (GRCm39) L49* probably null Het
Usp31 A G 7: 121,267,005 (GRCm39) probably null Het
Zbtb11 C T 16: 55,818,427 (GRCm39) T617I possibly damaging Het
Zfp608 A T 18: 55,031,180 (GRCm39) V920E 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
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
Predicted Primers PCR Primer
(F):5'- GTGCTACGATGAATGCCAGATATG -3'
(R):5'- ATTGGTGGACCCATCACAGG -3'

Sequencing Primer
(F):5'- TACGATGAATGCCAGATATGATAACG -3'
(R):5'- TGGACCCATCACAGGTTTATTG -3'
Posted On 2015-05-15