Incidental Mutation 'R5191:Adam26b'
ID 398155
Institutional Source Beutler Lab
Gene Symbol Adam26b
Ensembl Gene ENSMUSG00000063900
Gene Name a disintegrin and metallopeptidase domain 26B
Synonyms
MMRRC Submission 043263-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.063) question?
Stock # R5191 (G1)
Quality Score 225
Status Validated
Chromosome 8
Chromosomal Location 43972901-43981174 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 43973028 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Glycine at position 658 (D658G)
Ref Sequence ENSEMBL: ENSMUSP00000079032 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000080135]
AlphaFold Q6IMH6
Predicted Effect probably damaging
Transcript: ENSMUST00000080135
AA Change: D658G

PolyPhen 2 Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000079032
Gene: ENSMUSG00000063900
AA Change: D658G

DomainStartEndE-ValueType
signal peptide 1 22 N/A INTRINSIC
Pfam:Pep_M12B_propep 29 147 4.9e-18 PFAM
Pfam:Reprolysin_5 193 364 4.8e-15 PFAM
Pfam:Reprolysin_4 194 380 1.3e-8 PFAM
Pfam:Reprolysin 195 385 9.9e-50 PFAM
Pfam:Reprolysin_2 215 377 3.9e-15 PFAM
Pfam:Reprolysin_3 219 340 2e-15 PFAM
DISIN 401 476 5.88e-40 SMART
ACR 477 613 7.69e-64 SMART
low complexity region 631 642 N/A INTRINSIC
transmembrane domain 670 692 N/A INTRINSIC
Meta Mutation Damage Score 0.6467 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.3%
  • 20x: 95.4%
Validation Efficiency 100% (69/69)
Allele List at MGI
Other mutations in this stock
Total: 63 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acvrl1 A G 15: 101,034,946 (GRCm39) E235G probably damaging Het
Adamts12 A G 15: 11,327,843 (GRCm39) R1407G probably benign Het
Aknad1 T C 3: 108,659,306 (GRCm39) S107P probably benign Het
Aknad1 G A 3: 108,659,867 (GRCm39) V294I probably benign Het
Arfgef2 A G 2: 166,718,431 (GRCm39) T1407A probably damaging Het
Atp5f1a C T 18: 77,867,929 (GRCm39) P318S probably damaging Het
Atp9a C T 2: 168,503,983 (GRCm39) V494M possibly damaging Het
Ccdc69 A T 11: 54,943,719 (GRCm39) probably null Het
Crh T C 3: 19,748,093 (GRCm39) E183G probably damaging Het
Cyp2c40 A C 19: 39,791,035 (GRCm39) N265K probably damaging Het
D630003M21Rik C T 2: 158,042,955 (GRCm39) A862T probably benign Het
Dact3 T G 7: 16,609,375 (GRCm39) V9G probably damaging Het
Dnaaf9 A T 2: 130,579,323 (GRCm39) I638N possibly damaging Het
Dnah8 A G 17: 30,965,739 (GRCm39) E2357G probably damaging Het
Dzip1 C T 14: 119,148,805 (GRCm39) M291I probably damaging Het
Etl4 G T 2: 20,344,810 (GRCm39) S38I probably damaging Het
Fyb2 G T 4: 104,852,994 (GRCm39) C558F possibly damaging Het
Galnt3 T C 2: 65,924,050 (GRCm39) E406G probably damaging Het
Golga3 T A 5: 110,332,173 (GRCm39) probably benign Het
Gpr179 T A 11: 97,228,975 (GRCm39) Q1060L possibly damaging Het
Havcr1 A T 11: 46,647,024 (GRCm39) I153F probably benign Het
Hnrnpc A T 14: 52,314,964 (GRCm39) V141E probably damaging Het
Kcnj2 C T 11: 110,963,297 (GRCm39) Q230* probably null Het
Lgr6 C T 1: 134,921,748 (GRCm39) A199T probably damaging Het
Limch1 T C 5: 67,184,904 (GRCm39) L631P probably damaging Het
Lpin1 T C 12: 16,630,829 (GRCm39) N23S possibly damaging Het
Macf1 A G 4: 123,366,755 (GRCm39) S1104P probably benign Het
Man2b1 A G 8: 85,811,088 (GRCm39) D73G probably damaging Het
Marf1 A G 16: 13,963,942 (GRCm39) F454L probably damaging Het
Mcpt4 T A 14: 56,298,466 (GRCm39) I90L probably benign Het
Mfsd4b5 T C 10: 39,846,668 (GRCm39) E304G probably damaging Het
Mst1r G A 9: 107,788,750 (GRCm39) R423H probably damaging Het
Muc20 G A 16: 32,614,846 (GRCm39) S177L unknown Het
Muc5b A G 7: 141,412,276 (GRCm39) T1741A unknown Het
Myo1g C T 11: 6,465,105 (GRCm39) A447T probably benign Het
Nr1h2 C A 7: 44,199,840 (GRCm39) A360S probably damaging Het
Nufip1 A G 14: 76,349,429 (GRCm39) K154E probably damaging Het
Or12k8 T G 2: 36,974,990 (GRCm39) M257L probably benign Het
Or2a54 T A 6: 43,092,800 (GRCm39) N41K probably damaging Het
Or7e166 G A 9: 19,624,630 (GRCm39) C169Y probably damaging Het
Pecr A T 1: 72,314,136 (GRCm39) probably null Het
Pkd2 G A 5: 104,634,547 (GRCm39) R526Q probably benign Het
Plec T C 15: 76,059,365 (GRCm39) E3551G probably damaging Het
Rufy4 T C 1: 74,186,822 (GRCm39) C537R probably damaging Het
Sarm1 G A 11: 78,387,945 (GRCm39) Q114* probably null Het
Sec31a T C 5: 100,553,370 (GRCm39) E112G possibly damaging Het
Slc22a30 G A 19: 8,321,757 (GRCm39) Q436* probably null Het
Slc9a2 G T 1: 40,783,053 (GRCm39) R439L probably damaging Het
Sptb C A 12: 76,659,608 (GRCm39) E1097D probably benign Het
Stk38 A C 17: 29,193,344 (GRCm39) C362G probably benign Het
Stmn2 A T 3: 8,610,635 (GRCm39) M40L probably benign Het
Sytl2 A T 7: 90,024,860 (GRCm39) T283S probably damaging Het
Tcf4 A G 18: 69,775,954 (GRCm39) S48G probably damaging Het
Tlr4 A T 4: 66,759,616 (GRCm39) H803L probably damaging Het
Ttn C T 2: 76,709,432 (GRCm39) probably benign Het
Tyk2 G T 9: 21,018,793 (GRCm39) Q1099K probably damaging Het
Usp30 C T 5: 114,203,755 (GRCm39) probably benign Het
Vmn1r175 A G 7: 23,508,447 (GRCm39) V60A possibly damaging Het
Zc3h12d C A 10: 7,743,582 (GRCm39) P451T possibly damaging Het
Zeb2 T C 2: 44,892,612 (GRCm39) S146G probably benign Het
Zfp236 T A 18: 82,639,548 (GRCm39) N1233I probably damaging Het
Zfp954 A G 7: 7,119,022 (GRCm39) V174A probably damaging Het
Zswim1 G A 2: 164,667,939 (GRCm39) S397N probably benign Het
Other mutations in Adam26b
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00703:Adam26b APN 8 43,973,216 (GRCm39) missense probably damaging 1.00
IGL00806:Adam26b APN 8 43,974,379 (GRCm39) missense probably damaging 1.00
IGL00984:Adam26b APN 8 43,973,410 (GRCm39) missense possibly damaging 0.86
IGL01081:Adam26b APN 8 43,972,975 (GRCm39) missense probably benign 0.00
IGL01783:Adam26b APN 8 43,974,798 (GRCm39) missense probably benign 0.30
IGL02021:Adam26b APN 8 43,972,909 (GRCm39) missense probably benign
IGL02707:Adam26b APN 8 43,972,895 (GRCm39) utr 3 prime probably benign
IGL03112:Adam26b APN 8 43,974,549 (GRCm39) missense probably benign
R0195:Adam26b UTSW 8 43,973,307 (GRCm39) missense probably damaging 0.99
R0453:Adam26b UTSW 8 43,973,387 (GRCm39) missense probably benign 0.00
R0562:Adam26b UTSW 8 43,973,408 (GRCm39) missense probably benign 0.36
R0645:Adam26b UTSW 8 43,973,524 (GRCm39) missense probably damaging 1.00
R0763:Adam26b UTSW 8 43,973,601 (GRCm39) missense probably damaging 1.00
R1697:Adam26b UTSW 8 43,974,000 (GRCm39) missense probably damaging 0.98
R1739:Adam26b UTSW 8 43,974,714 (GRCm39) missense probably damaging 1.00
R1751:Adam26b UTSW 8 43,972,948 (GRCm39) missense probably benign 0.00
R1767:Adam26b UTSW 8 43,972,948 (GRCm39) missense probably benign 0.00
R1994:Adam26b UTSW 8 43,973,676 (GRCm39) missense probably benign 0.44
R3747:Adam26b UTSW 8 43,974,234 (GRCm39) missense probably benign 0.07
R3748:Adam26b UTSW 8 43,974,234 (GRCm39) missense probably benign 0.07
R3750:Adam26b UTSW 8 43,974,234 (GRCm39) missense probably benign 0.07
R3771:Adam26b UTSW 8 43,973,751 (GRCm39) missense probably damaging 1.00
R4027:Adam26b UTSW 8 43,973,409 (GRCm39) missense probably benign 0.09
R4652:Adam26b UTSW 8 43,974,375 (GRCm39) missense possibly damaging 0.49
R4790:Adam26b UTSW 8 43,973,764 (GRCm39) missense probably benign 0.19
R4859:Adam26b UTSW 8 43,973,296 (GRCm39) missense possibly damaging 0.80
R5059:Adam26b UTSW 8 43,973,637 (GRCm39) missense probably damaging 1.00
R5540:Adam26b UTSW 8 43,974,654 (GRCm39) missense probably damaging 1.00
R5568:Adam26b UTSW 8 43,973,529 (GRCm39) missense probably benign 0.00
R5886:Adam26b UTSW 8 43,973,310 (GRCm39) missense possibly damaging 0.72
R5935:Adam26b UTSW 8 43,974,335 (GRCm39) missense probably benign 0.00
R5983:Adam26b UTSW 8 43,974,378 (GRCm39) missense probably damaging 1.00
R6544:Adam26b UTSW 8 43,974,818 (GRCm39) missense probably damaging 0.98
R6610:Adam26b UTSW 8 43,974,190 (GRCm39) missense probably damaging 1.00
R6668:Adam26b UTSW 8 43,973,727 (GRCm39) missense possibly damaging 0.72
R6966:Adam26b UTSW 8 43,974,472 (GRCm39) missense possibly damaging 0.51
R7545:Adam26b UTSW 8 43,974,750 (GRCm39) missense probably damaging 0.98
R7596:Adam26b UTSW 8 43,973,237 (GRCm39) missense probably benign
R7634:Adam26b UTSW 8 43,974,034 (GRCm39) missense probably benign
R7657:Adam26b UTSW 8 43,974,579 (GRCm39) missense possibly damaging 0.95
R7692:Adam26b UTSW 8 43,973,832 (GRCm39) missense probably benign 0.00
R7769:Adam26b UTSW 8 43,974,732 (GRCm39) missense probably benign 0.00
R7912:Adam26b UTSW 8 43,973,245 (GRCm39) missense probably benign 0.13
R7918:Adam26b UTSW 8 43,974,138 (GRCm39) missense probably benign 0.14
R8286:Adam26b UTSW 8 43,972,998 (GRCm39) missense probably benign 0.05
R8897:Adam26b UTSW 8 43,974,009 (GRCm39) missense possibly damaging 0.91
R8922:Adam26b UTSW 8 43,973,216 (GRCm39) missense probably damaging 1.00
R9075:Adam26b UTSW 8 43,973,405 (GRCm39) missense probably benign 0.07
R9225:Adam26b UTSW 8 43,973,453 (GRCm39) nonsense probably null
X0066:Adam26b UTSW 8 43,973,041 (GRCm39) missense probably damaging 0.97
Z1088:Adam26b UTSW 8 43,973,634 (GRCm39) missense probably damaging 0.99
Z1177:Adam26b UTSW 8 43,974,459 (GRCm39) missense probably benign 0.03
Z1177:Adam26b UTSW 8 43,973,735 (GRCm39) missense probably benign 0.24
Predicted Primers PCR Primer
(F):5'- AGAAAGGCCATTGACTTGTTTGAG -3'
(R):5'- CCATAGATGATATTGGAGCTGTGAGC -3'

Sequencing Primer
(F):5'- TGAGTTAATGCTGAGTCCTGC -3'
(R):5'- TGAGCGATGGCACAGCTTG -3'
Posted On 2016-07-06