Incidental Mutation 'R4375:Lactbl1'
ID 325066
Institutional Source Beutler Lab
Gene Symbol Lactbl1
Ensembl Gene ENSMUSG00000070683
Gene Name lactamase, beta-like 1
Synonyms
MMRRC Submission 041119-MU
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.126) question?
Stock # R4375 (G1)
Quality Score 96
Status Validated
Chromosome 4
Chromosomal Location 136622621-136639110 bp(+) (GRCm38)
Type of Mutation missense
DNA Base Change (assembly) T to C at 136637591 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change Valine to Alanine at position 418 (V418A)
Ref Sequence ENSEMBL: ENSMUSP00000138455 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000178843]
AlphaFold S4R213
Predicted Effect possibly damaging
Transcript: ENSMUST00000178843
AA Change: V418A

PolyPhen 2 Score 0.899 (Sensitivity: 0.82; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000138455
Gene: ENSMUSG00000070683
AA Change: V418A

DomainStartEndE-ValueType
transmembrane domain 20 42 N/A INTRINSIC
Pfam:Beta-lactamase 87 440 3e-42 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000195460
Meta Mutation Damage Score 0.0783 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.5%
  • 10x: 97.1%
  • 20x: 94.6%
Validation Efficiency 100% (37/37)
Allele List at MGI
Other mutations in this stock
Total: 37 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adhfe1 A T 1: 9,561,628 probably benign Het
C330007P06Rik C A X: 36,824,159 C206F probably benign Het
Cd209c T C 8: 3,954,635 noncoding transcript Het
Cntnap1 A G 11: 101,182,253 D561G probably damaging Het
Csf1 T A 3: 107,756,739 T38S probably damaging Het
Cyp4b1 T C 4: 115,636,313 T191A probably benign Het
Dapk1 A T 13: 60,761,589 M1339L probably benign Het
Dpm3 T C 3: 89,266,908 Y59H probably damaging Het
Eif2ak4 A G 2: 118,427,924 Y585C probably damaging Het
Ercc1 G A 7: 19,347,132 probably benign Het
Fam184b T C 5: 45,542,343 D577G probably benign Het
Gon4l C A 3: 88,907,387 P1888T probably benign Het
Hsf2bp C T 17: 31,987,348 D270N probably null Het
Lifr A T 15: 7,166,898 M188L probably benign Het
Ltbp1 G T 17: 75,312,997 G760V probably damaging Het
March11 A G 15: 26,309,446 E62G probably damaging Het
Nlrp12 A G 7: 3,240,946 L312P possibly damaging Het
Olfr365 T A 2: 37,201,562 M107K probably benign Het
Olfr608 T C 7: 103,470,071 S11P probably damaging Het
Olfr898 T C 9: 38,349,169 F23L probably benign Het
Pcdh17 T C 14: 84,448,271 V726A possibly damaging Het
Pdia4 G A 6: 47,798,392 R495W probably damaging Het
Phf20l1 T C 15: 66,615,222 S369P probably benign Het
Polq G T 16: 37,013,181 V79F probably damaging Het
Prcc A G 3: 87,867,407 Y363H probably damaging Het
Proser3 A G 7: 30,540,671 V336A possibly damaging Het
Rbbp8 C T 18: 11,725,410 T646M probably benign Het
Rgs1 T C 1: 144,247,906 T94A probably benign Het
Rpl11 G A 4: 136,051,143 probably benign Het
Slc14a2 G A 18: 78,207,068 R62C probably damaging Het
Snx9 G A 17: 5,908,626 W292* probably null Het
St14 T C 9: 31,090,458 I784V probably benign Het
Strc A G 2: 121,380,823 S14P unknown Het
Ttc23l CT CTTGGATT 15: 10,537,562 probably benign Het
Ttc23l G A 15: 10,537,566 S206L probably benign Het
Ubap1 G A 4: 41,371,850 probably null Het
Zfr T C 15: 12,118,340 probably null Het
Other mutations in Lactbl1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00229:Lactbl1 APN 4 136631051 missense probably damaging 1.00
R1592:Lactbl1 UTSW 4 136635876 splice site probably null
R2869:Lactbl1 UTSW 4 136626786 missense probably damaging 1.00
R2869:Lactbl1 UTSW 4 136626786 missense probably damaging 1.00
R2874:Lactbl1 UTSW 4 136626786 missense probably damaging 1.00
R3844:Lactbl1 UTSW 4 136637960 missense possibly damaging 0.91
R5185:Lactbl1 UTSW 4 136631045 missense probably benign 0.00
R6227:Lactbl1 UTSW 4 136637918 missense probably benign 0.00
R6544:Lactbl1 UTSW 4 136632989 missense possibly damaging 0.69
R7028:Lactbl1 UTSW 4 136632975 missense probably damaging 1.00
R7476:Lactbl1 UTSW 4 136637639 missense probably benign 0.01
R7779:Lactbl1 UTSW 4 136630996 nonsense probably null
R8782:Lactbl1 UTSW 4 136631018 missense possibly damaging 0.78
R8915:Lactbl1 UTSW 4 136632932 missense probably benign 0.39
Predicted Primers PCR Primer
(F):5'- ATTGCTAGCACCACTACGCG -3'
(R):5'- TCACTGGGAGCTGAACACTG -3'

Sequencing Primer
(F):5'- CACCACTACGCGCCTGC -3'
(R):5'- ATCCAGTGGGTAGAACCGCAC -3'
Posted On 2015-07-06