Incidental Mutation 'R4158:Adam34'
ID 315626
Institutional Source Beutler Lab
Gene Symbol Adam34
Ensembl Gene ENSMUSG00000079058
Gene Name a disintegrin and metallopeptidase domain 34
Synonyms testase 4
MMRRC Submission 041001-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.074) question?
Stock # R4158 (G1)
Quality Score 225
Status Validated
Chromosome 8
Chromosomal Location 44103346-44118597 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 44103854 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Histidine to Arginine at position 597 (H597R)
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: H597R

PolyPhen 2 Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000106041
Gene: ENSMUSG00000079058
AA Change: H597R

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: H597R

PolyPhen 2 Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)
Meta Mutation Damage Score 0.6467 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.4%
  • 20x: 95.5%
Validation Efficiency 97% (38/39)
Allele List at MGI
Other mutations in this stock
Total: 35 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adgrf4 G T 17: 42,978,568 (GRCm39) H258Q probably benign Het
Ankrd1 T A 19: 36,095,273 (GRCm39) K138N probably damaging Het
Arg1 T C 10: 24,798,575 (GRCm39) E25G probably damaging Het
Arhgef19 T C 4: 140,973,660 (GRCm39) I49T possibly damaging Het
Bsn A G 9: 107,990,145 (GRCm39) V1869A possibly damaging Het
Cep350 G A 1: 155,808,621 (GRCm39) R652W probably damaging Het
Cyp19a1 G A 9: 54,093,980 (GRCm39) T94I probably damaging Het
Dnajc13 G A 9: 104,067,641 (GRCm39) L1173F probably damaging Het
Dse A G 10: 34,029,330 (GRCm39) F587L probably damaging Het
Efcab14 A C 4: 115,597,594 (GRCm39) D63A probably damaging Het
Eomes A G 9: 118,308,031 (GRCm39) T35A probably benign Het
Fbxl20 T C 11: 97,986,220 (GRCm39) probably benign Het
Flcn T C 11: 59,691,947 (GRCm39) N234S probably benign Het
Gm20939 A T 17: 95,184,162 (GRCm39) Y270F possibly damaging Het
Ikzf4 A T 10: 128,479,605 (GRCm39) probably benign Het
Il22b T C 10: 118,129,037 (GRCm39) T151A probably damaging Het
Kcne4 A G 1: 78,795,819 (GRCm39) N156D probably benign Het
Kcnh8 GAGACCAACGAGCAGCTGATGCTTCAGA GAGA 17: 53,032,934 (GRCm39) 74 probably benign Het
Lrrc45 A T 11: 120,609,272 (GRCm39) D377V possibly damaging Het
Magi3 T C 3: 103,958,277 (GRCm39) K603E probably damaging Het
Mocos T C 18: 24,807,303 (GRCm39) I345T probably damaging Het
Nox4 A T 7: 87,046,032 (GRCm39) H557L possibly damaging Het
Oasl1 A G 5: 115,075,073 (GRCm39) K378E possibly damaging Het
Pla2r1 A T 2: 60,252,966 (GRCm39) I1375K probably damaging Het
Ppp6r3 T A 19: 3,562,037 (GRCm39) H208L probably damaging Het
Ptprz1 A T 6: 23,001,683 (GRCm39) K1258* probably null Het
Ptprz1 T C 6: 23,022,204 (GRCm39) I844T possibly damaging Het
Sdk1 A G 5: 142,100,154 (GRCm39) I1395V probably benign Het
Sec31b T C 19: 44,513,625 (GRCm39) N470S probably benign Het
Slc26a7 T C 4: 14,544,197 (GRCm39) T369A probably benign Het
Tex14 T G 11: 87,407,595 (GRCm39) S900R probably benign Het
Ush2a G A 1: 188,460,907 (GRCm39) V2723M probably damaging Het
Vat1l T A 8: 115,098,469 (GRCm39) M413K probably benign Het
Zfp981 C A 4: 146,622,080 (GRCm39) P335Q probably benign Het
Zfp981 T A 4: 146,622,339 (GRCm39) H421Q probably benign 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
BB010:Adam34 UTSW 8 44,103,911 (GRCm39) missense probably damaging 1.00
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
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'- CTATACTACCTCCATGGCCACG -3'
(R):5'- CGCTTTGGAAACTGTGGCAATG -3'

Sequencing Primer
(F):5'- ATGGCCACGTAGTTGACAGTC -3'
(R):5'- CTTTGGAAACTGTGGCAATGATAGC -3'
Posted On 2015-05-14