Incidental Mutation 'BB010:Adam34'
ID 642582
Institutional Source Beutler Lab
Gene Symbol Adam34
Ensembl Gene ENSMUSG00000079058
Gene Name a disintegrin and metallopeptidase domain 34
Synonyms testase 4
Accession Numbers
Essential gene? Probably non essential (E-score: 0.074) question?
Stock # BB010
Quality Score 225.009
Status Not validated
Chromosome 8
Chromosomal Location 44103346-44118597 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 44103911 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Histidine to Leucine at position 578 (H578L)
Ref Sequence ENSEMBL: ENSMUSP00000148332 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000110411] [ENSMUST00000212185]
AlphaFold A2RSG8
Predicted Effect probably damaging
Transcript: ENSMUST00000110411
AA Change: H578L

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000106041
Gene: ENSMUSG00000079058
AA Change: H578L

DomainStartEndE-ValueType
transmembrane domain 13 32 N/A INTRINSIC
Pfam:Pep_M12B_propep 40 159 5.9e-20 PFAM
Pfam:Reprolysin_5 205 377 1.6e-16 PFAM
Pfam:Reprolysin_4 205 393 3e-12 PFAM
Pfam:Reprolysin 207 397 9.4e-49 PFAM
Pfam:Reprolysin_2 224 389 1e-14 PFAM
Pfam:Reprolysin_3 231 352 2.7e-14 PFAM
DISIN 416 491 3.38e-40 SMART
ACR 492 628 9.18e-62 SMART
transmembrane domain 685 707 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000212185
AA Change: H578L

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
Meta Mutation Damage Score 0.6329 question?
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.7%
  • 20x: 99.0%
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 39 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4933414I15Rik A G 11: 50,833,227 (GRCm39) V125A unknown Het
Ago4 A T 4: 126,400,811 (GRCm39) M678K probably benign Het
Atosb A T 4: 43,035,919 (GRCm39) C271S probably benign Het
Atrn T C 2: 130,836,986 (GRCm39) L1150P probably damaging Het
Camta1 C T 4: 151,168,214 (GRCm39) E279K probably damaging Het
Ccdc88c T C 12: 100,911,749 (GRCm39) D695G possibly damaging Het
Col11a2 A T 17: 34,275,029 (GRCm39) K400* probably null Het
Cpsf4 T A 5: 145,104,168 (GRCm39) M1K probably null Het
Dnah12 A T 14: 26,488,072 (GRCm39) Q992L probably benign Het
Dnajc7 T C 11: 100,487,038 (GRCm39) Y145C probably damaging Het
Eml5 A T 12: 98,810,279 (GRCm39) D892E possibly damaging Het
Fam193a A G 5: 34,623,539 (GRCm39) K23E possibly damaging Het
Filip1 T G 9: 79,727,329 (GRCm39) K430T possibly damaging Het
Gm5089 T C 14: 122,673,403 (GRCm39) D106G unknown Het
Hip1 A T 5: 135,489,310 (GRCm39) N45K probably damaging Het
Hivep2 T C 10: 14,003,581 (GRCm39) S60P probably damaging Het
Ighv1-53 A T 12: 115,122,029 (GRCm39) C115* probably null Het
Macf1 T C 4: 123,303,444 (GRCm39) T353A probably benign Het
Mast3 A T 8: 71,239,279 (GRCm39) V433E probably damaging Het
Mast4 A T 13: 102,909,071 (GRCm39) M660K probably damaging Het
Nr2e1 T C 10: 42,439,379 (GRCm39) Y380C probably damaging Het
Or10g9b T C 9: 39,918,431 (GRCm39) probably benign Het
Or5b111 T A 19: 13,291,569 (GRCm39) M27L probably benign Het
Otog A G 7: 45,959,571 (GRCm39) D720G probably damaging Het
Slc6a1 T A 6: 114,288,859 (GRCm39) W473R probably damaging Het
Smpd3 A C 8: 106,982,254 (GRCm39) C617G probably benign Het
Spata31d1e A G 13: 59,891,565 (GRCm39) L85P probably damaging Het
Sprr3 T C 3: 92,364,515 (GRCm39) I110V possibly damaging Het
Ston1 A G 17: 88,943,572 (GRCm39) E326G probably benign Het
Tapbpl T G 6: 125,207,233 (GRCm39) Q152P probably damaging Het
Tectb C T 19: 55,183,105 (GRCm39) L319F possibly damaging Het
Tpp2 G A 1: 44,000,121 (GRCm39) G413D probably damaging Het
Tpsg1 A G 17: 25,592,178 (GRCm39) H84R probably damaging Het
Usp24 A G 4: 106,285,686 (GRCm39) N2437S probably benign Het
Usp32 T C 11: 84,897,885 (GRCm39) Q1152R probably damaging Het
Vmn2r6 T C 3: 64,467,224 (GRCm39) T92A probably benign Het
Xpo7 A G 14: 70,944,788 (GRCm39) V35A probably benign Het
Zan T A 5: 137,461,841 (GRCm39) T1113S unknown Het
Zfp169 A G 13: 48,643,957 (GRCm39) V390A unknown Het
Other mutations in Adam34
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00545:Adam34 APN 8 44,105,227 (GRCm39) missense possibly damaging 0.91
IGL01296:Adam34 APN 8 44,104,178 (GRCm39) missense possibly damaging 0.90
IGL01369:Adam34 APN 8 44,104,094 (GRCm39) missense probably benign 0.00
IGL01933:Adam34 APN 8 44,104,569 (GRCm39) missense probably damaging 1.00
IGL01938:Adam34 APN 8 44,104,053 (GRCm39) missense probably damaging 1.00
IGL02112:Adam34 APN 8 44,104,175 (GRCm39) missense possibly damaging 0.46
IGL02182:Adam34 APN 8 44,104,790 (GRCm39) missense probably benign
IGL02306:Adam34 APN 8 44,103,522 (GRCm39) missense probably benign 0.44
IGL02661:Adam34 APN 8 44,104,572 (GRCm39) missense probably damaging 1.00
IGL02888:Adam34 APN 8 44,104,610 (GRCm39) missense probably damaging 1.00
IGL02979:Adam34 APN 8 44,104,408 (GRCm39) missense probably damaging 1.00
IGL03073:Adam34 APN 8 44,103,940 (GRCm39) missense probably damaging 0.99
BB020:Adam34 UTSW 8 44,103,911 (GRCm39) missense probably damaging 1.00
PIT4453001:Adam34 UTSW 8 44,104,349 (GRCm39) missense probably damaging 1.00
R0060:Adam34 UTSW 8 44,128,920 (GRCm39) intron probably benign
R0317:Adam34 UTSW 8 44,105,288 (GRCm39) missense probably benign 0.14
R0322:Adam34 UTSW 8 44,104,958 (GRCm39) missense probably benign 0.00
R0427:Adam34 UTSW 8 44,105,493 (GRCm39) missense probably benign 0.15
R0593:Adam34 UTSW 8 44,104,724 (GRCm39) missense possibly damaging 0.87
R0837:Adam34 UTSW 8 44,104,537 (GRCm39) missense probably benign 0.00
R0927:Adam34 UTSW 8 44,104,621 (GRCm39) missense probably damaging 1.00
R1634:Adam34 UTSW 8 44,105,127 (GRCm39) missense possibly damaging 0.81
R1653:Adam34 UTSW 8 44,103,682 (GRCm39) nonsense probably null
R1826:Adam34 UTSW 8 44,104,379 (GRCm39) missense probably damaging 1.00
R1873:Adam34 UTSW 8 44,104,843 (GRCm39) missense probably benign 0.02
R1943:Adam34 UTSW 8 44,104,852 (GRCm39) missense probably damaging 1.00
R1943:Adam34 UTSW 8 44,103,864 (GRCm39) missense possibly damaging 0.48
R2147:Adam34 UTSW 8 44,105,538 (GRCm39) missense probably benign 0.01
R2150:Adam34 UTSW 8 44,105,538 (GRCm39) missense probably benign 0.01
R2206:Adam34 UTSW 8 44,105,274 (GRCm39) missense probably benign 0.02
R2207:Adam34 UTSW 8 44,105,274 (GRCm39) missense probably benign 0.02
R2268:Adam34 UTSW 8 44,103,647 (GRCm39) missense probably benign 0.00
R2349:Adam34 UTSW 8 44,105,415 (GRCm39) missense probably damaging 0.99
R3983:Adam34 UTSW 8 44,103,806 (GRCm39) missense probably benign
R4158:Adam34 UTSW 8 44,103,854 (GRCm39) missense probably damaging 1.00
R4179:Adam34 UTSW 8 44,104,128 (GRCm39) missense probably benign 0.18
R5219:Adam34 UTSW 8 44,104,461 (GRCm39) missense probably benign
R5398:Adam34 UTSW 8 44,104,278 (GRCm39) missense probably damaging 1.00
R5611:Adam34 UTSW 8 44,104,749 (GRCm39) missense probably benign 0.43
R5928:Adam34 UTSW 8 44,105,067 (GRCm39) missense probably benign 0.08
R6115:Adam34 UTSW 8 44,105,098 (GRCm39) missense probably benign
R6319:Adam34 UTSW 8 44,104,952 (GRCm39) missense probably benign 0.01
R6384:Adam34 UTSW 8 44,103,836 (GRCm39) missense probably benign 0.00
R6706:Adam34 UTSW 8 44,104,479 (GRCm39) nonsense probably null
R6992:Adam34 UTSW 8 44,105,642 (GRCm39) start codon destroyed probably null 1.00
R7032:Adam34 UTSW 8 44,105,303 (GRCm39) missense probably damaging 1.00
R7151:Adam34 UTSW 8 44,104,499 (GRCm39) missense probably benign 0.19
R7187:Adam34 UTSW 8 44,105,565 (GRCm39) missense probably benign 0.02
R7223:Adam34 UTSW 8 44,105,041 (GRCm39) missense probably benign 0.02
R7487:Adam34 UTSW 8 44,104,191 (GRCm39) missense probably damaging 1.00
R7726:Adam34 UTSW 8 44,104,208 (GRCm39) missense probably damaging 0.99
R7789:Adam34 UTSW 8 44,105,488 (GRCm39) missense probably benign 0.00
R7810:Adam34 UTSW 8 44,105,045 (GRCm39) missense probably benign 0.01
R7933:Adam34 UTSW 8 44,103,911 (GRCm39) missense probably damaging 1.00
R8192:Adam34 UTSW 8 44,103,970 (GRCm39) missense probably damaging 1.00
R8231:Adam34 UTSW 8 44,104,659 (GRCm39) missense probably benign
R8238:Adam34 UTSW 8 44,103,993 (GRCm39) missense probably damaging 1.00
R8259:Adam34 UTSW 8 44,104,646 (GRCm39) missense probably benign 0.03
R8339:Adam34 UTSW 8 44,103,640 (GRCm39) missense probably benign 0.20
R8381:Adam34 UTSW 8 44,104,847 (GRCm39) missense possibly damaging 0.70
R8670:Adam34 UTSW 8 44,105,126 (GRCm39) missense possibly damaging 0.91
R8693:Adam34 UTSW 8 44,104,641 (GRCm39) missense probably benign
R8932:Adam34 UTSW 8 44,105,192 (GRCm39) missense probably benign 0.19
R8936:Adam34 UTSW 8 44,104,439 (GRCm39) missense probably benign 0.00
R8981:Adam34 UTSW 8 44,103,840 (GRCm39) missense probably benign 0.05
R9040:Adam34 UTSW 8 44,103,363 (GRCm39) unclassified probably benign
R9105:Adam34 UTSW 8 44,103,785 (GRCm39) missense probably damaging 1.00
R9305:Adam34 UTSW 8 44,104,416 (GRCm39) missense probably damaging 1.00
R9321:Adam34 UTSW 8 44,105,243 (GRCm39) missense probably damaging 1.00
R9641:Adam34 UTSW 8 44,104,076 (GRCm39) missense probably damaging 0.97
R9644:Adam34 UTSW 8 44,104,766 (GRCm39) missense probably damaging 0.96
Predicted Primers PCR Primer
(F):5'- GCAGACTCCTTGCATATGGC -3'
(R):5'- AACGTGATGAGCAGTGTCG -3'

Sequencing Primer
(F):5'- CATATGGCATAACTGTGGTGTAC -3'
(R):5'- TCGGAAGATTTTTGGCAATGGAAG -3'
Posted On 2020-08-01