Incidental Mutation 'R6995:Naaladl1'
ID 544175
Institutional Source Beutler Lab
Gene Symbol Naaladl1
Ensembl Gene ENSMUSG00000054999
Gene Name N-acetylated alpha-linked acidic dipeptidase-like 1
Synonyms LOC381204
MMRRC Submission 045101-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.186) question?
Stock # R6995 (G1)
Quality Score 225.009
Status Not validated
Chromosome 19
Chromosomal Location 6155812-6165822 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 6165578 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Glycine at position 744 (D744G)
Ref Sequence ENSEMBL: ENSMUSP00000044231 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000025702] [ENSMUST00000044451] [ENSMUST00000113533] [ENSMUST00000154601]
AlphaFold Q7M758
Predicted Effect probably benign
Transcript: ENSMUST00000025702
SMART Domains Protein: ENSMUSP00000025702
Gene: ENSMUSG00000024787

DomainStartEndE-ValueType
PX 8 126 1.78e-22 SMART
low complexity region 140 151 N/A INTRINSIC
MIT 265 337 7.77e-20 SMART
Predicted Effect possibly damaging
Transcript: ENSMUST00000044451
AA Change: D744G

PolyPhen 2 Score 0.787 (Sensitivity: 0.85; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000044231
Gene: ENSMUSG00000054999
AA Change: D744G

DomainStartEndE-ValueType
transmembrane domain 7 29 N/A INTRINSIC
low complexity region 32 47 N/A INTRINSIC
Pfam:PA 163 256 3e-12 PFAM
Pfam:Peptidase_M28 353 564 1.3e-22 PFAM
low complexity region 579 592 N/A INTRINSIC
Pfam:TFR_dimer 621 740 4.5e-27 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000113533
SMART Domains Protein: ENSMUSP00000109161
Gene: ENSMUSG00000024790

DomainStartEndE-ValueType
low complexity region 17 32 N/A INTRINSIC
low complexity region 89 100 N/A INTRINSIC
Pfam:SAC3_GANP 134 356 7.6e-50 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000154601
SMART Domains Protein: ENSMUSP00000122740
Gene: ENSMUSG00000024787

DomainStartEndE-ValueType
PX 8 126 1.78e-22 SMART
low complexity region 140 151 N/A INTRINSIC
Blast:MIT 222 251 4e-12 BLAST
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.8%
  • 20x: 99.2%
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 84 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930433I11Rik A G 7: 40,644,149 (GRCm39) Y606C probably benign Het
Acad9 A G 3: 36,139,630 (GRCm39) Y410C probably damaging Het
Acot6 C T 12: 84,156,149 (GRCm39) P366S probably damaging Het
Adrm1b T C 3: 92,336,315 (GRCm39) probably benign Het
Anks1 G T 17: 28,273,273 (GRCm39) G964V probably damaging Het
Apol7a A T 15: 77,274,176 (GRCm39) probably benign Het
Arid3c G A 4: 41,725,087 (GRCm39) A320V probably damaging Het
Bnip3l A T 14: 67,237,101 (GRCm39) N50K probably benign Het
C1qtnf4 C A 2: 90,720,297 (GRCm39) A190D probably benign Het
Calhm5 A T 10: 33,972,189 (GRCm39) M82K probably benign Het
Cdcp3 G T 7: 130,824,400 (GRCm39) W165L probably damaging Het
Cdh1 G T 8: 107,387,545 (GRCm39) V482L probably benign Het
Cdrt4 A C 11: 62,883,486 (GRCm39) I63L probably benign Het
Cic A T 7: 24,970,736 (GRCm39) T156S possibly damaging Het
Ckm A G 7: 19,154,156 (GRCm39) N301S probably benign Het
Colgalt1 C T 8: 72,076,165 (GRCm39) R539C probably damaging Het
Cop1 A G 1: 159,134,154 (GRCm39) D132G probably damaging Het
Cpd G T 11: 76,675,881 (GRCm39) N1257K probably benign Het
Cyp2c67 T C 19: 39,604,123 (GRCm39) H411R probably damaging Het
Cyp2r1 A T 7: 114,152,316 (GRCm39) F5I probably damaging Het
Dclk3 T A 9: 111,296,768 (GRCm39) L104Q possibly damaging Het
Dnah7c A T 1: 46,494,973 (GRCm39) Q67L probably benign Het
Dnm1l C A 16: 16,147,671 (GRCm39) E365* probably null Het
Dst A T 1: 34,205,315 (GRCm39) I502F probably damaging Het
Espl1 T C 15: 102,212,535 (GRCm39) V547A possibly damaging Het
Foxa1 C T 12: 57,589,264 (GRCm39) A319T probably benign Het
Frem1 G T 4: 82,904,838 (GRCm39) H859N probably damaging Het
Frem3 T A 8: 81,339,208 (GRCm39) D500E probably damaging Het
Gpatch2l G A 12: 86,290,958 (GRCm39) R47H probably damaging Het
Grip1 A G 10: 119,822,375 (GRCm39) D394G probably damaging Het
Gsap C A 5: 21,476,235 (GRCm39) T589K possibly damaging Het
Gsg1l A G 7: 125,522,658 (GRCm39) V190A probably damaging Het
Kcnmb1 A T 11: 33,920,131 (GRCm39) T115S probably benign Het
Kirrel2 A C 7: 30,154,604 (GRCm39) F169C probably damaging Het
L3mbtl1 C T 2: 162,803,368 (GRCm39) T397M probably damaging Het
Lama1 G A 17: 68,060,820 (GRCm39) C716Y Het
Lamc2 G A 1: 153,012,508 (GRCm39) T722M probably benign Het
Lrig1 T C 6: 94,588,610 (GRCm39) D513G possibly damaging Het
Lrrk1 T C 7: 65,942,090 (GRCm39) D716G probably damaging Het
Matn4 G A 2: 164,231,584 (GRCm39) R582* probably null Het
Mdn1 A T 4: 32,733,374 (GRCm39) R3133W probably benign Het
Mmp7 A G 9: 7,695,489 (GRCm39) D122G probably damaging Het
Nampt T G 12: 32,898,742 (GRCm39) Y453D probably benign Het
Nlrp12 A G 7: 3,288,481 (GRCm39) V677A probably benign Het
Ntng2 T C 2: 29,087,080 (GRCm39) N414S probably damaging Het
Or1e16 A G 11: 73,286,410 (GRCm39) V146A probably benign Het
Or4g17 A G 2: 111,209,708 (GRCm39) D121G probably damaging Het
Or5p52 A G 7: 107,502,829 (GRCm39) R302G probably benign Het
Or9m1b A C 2: 87,836,529 (GRCm39) F189V probably benign Het
Parp4 A C 14: 56,851,196 (GRCm39) Q733P probably damaging Het
Pdcl3 G A 1: 39,034,417 (GRCm39) V56I probably benign Het
Pepd A G 7: 34,721,144 (GRCm39) Y256C probably damaging Het
Plg G T 17: 12,637,938 (GRCm39) R788L probably benign Het
Plod1 A T 4: 148,000,675 (GRCm39) probably benign Het
Ptprc A G 1: 138,016,482 (GRCm39) V513A probably damaging Het
Pxdn T C 12: 30,045,370 (GRCm39) I373T possibly damaging Het
Qrfprl A T 6: 65,418,285 (GRCm39) K151I probably damaging Het
Rbbp8 G A 18: 11,851,965 (GRCm39) G262E probably damaging Het
Rfc2 T A 5: 134,623,104 (GRCm39) Y240* probably null Het
Rps15 A G 10: 80,129,598 (GRCm39) E71G possibly damaging Het
Rsrc1 C T 3: 66,901,982 (GRCm39) P44L unknown Het
Ryr1 A C 7: 28,793,607 (GRCm39) M1287R probably damaging Het
Scart2 G A 7: 139,841,514 (GRCm39) D273N probably benign Het
Serpina9 A G 12: 103,967,495 (GRCm39) L300P probably damaging Het
Sh3rf2 G A 18: 42,234,606 (GRCm39) A130T probably damaging Het
Slc12a8 G A 16: 33,355,263 (GRCm39) W26* probably null Het
Snx18 A T 13: 113,731,265 (GRCm39) H576Q probably damaging Het
Tagln3 G A 16: 45,543,321 (GRCm39) T107I probably benign Het
Thap1 C A 8: 26,652,679 (GRCm39) T139K probably damaging Het
Tle4 T A 19: 14,541,817 (GRCm39) probably null Het
Tmem87a A T 2: 120,193,409 (GRCm39) M502K possibly damaging Het
Tpcn2 A T 7: 144,810,522 (GRCm39) V605E probably benign Het
Trgj1 C A 13: 19,394,529 (GRCm39) probably benign Het
Tsc2 A T 17: 24,847,028 (GRCm39) V179E probably damaging Het
Ubap2l T C 3: 89,916,548 (GRCm39) T909A probably damaging Het
Ubl4b T G 3: 107,462,140 (GRCm39) Q40P probably damaging Het
Vmn1r229 A G 17: 21,035,277 (GRCm39) D174G probably damaging Het
Vmn2r50 A T 7: 9,779,964 (GRCm39) Y472* probably null Het
Vmn2r74 T A 7: 85,601,943 (GRCm39) D565V probably benign Het
Vmn2r74 T A 7: 85,606,860 (GRCm39) probably null Het
Vmn2r82 T A 10: 79,232,377 (GRCm39) V792E probably damaging Het
Zfp335 G A 2: 164,735,210 (GRCm39) Q1179* probably null Het
Zmynd12 A C 4: 119,310,772 (GRCm39) K327Q probably benign Het
Zwilch G A 9: 64,072,731 (GRCm39) Q27* probably null Het
Other mutations in Naaladl1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01793:Naaladl1 APN 19 6,159,661 (GRCm39) splice site probably null
IGL01905:Naaladl1 APN 19 6,165,577 (GRCm39) missense possibly damaging 0.79
IGL02491:Naaladl1 APN 19 6,159,748 (GRCm39) missense possibly damaging 0.82
IGL03135:Naaladl1 APN 19 6,162,386 (GRCm39) missense probably benign 0.06
IGL03143:Naaladl1 APN 19 6,164,896 (GRCm39) missense possibly damaging 0.79
IGL03340:Naaladl1 APN 19 6,156,229 (GRCm39) missense possibly damaging 0.63
PIT4466001:Naaladl1 UTSW 19 6,164,663 (GRCm39) missense possibly damaging 0.89
R0102:Naaladl1 UTSW 19 6,162,534 (GRCm39) missense probably damaging 1.00
R0102:Naaladl1 UTSW 19 6,162,534 (GRCm39) missense probably damaging 1.00
R0734:Naaladl1 UTSW 19 6,162,904 (GRCm39) critical splice acceptor site probably null
R2291:Naaladl1 UTSW 19 6,156,225 (GRCm39) missense probably benign
R3805:Naaladl1 UTSW 19 6,164,895 (GRCm39) missense probably benign 0.00
R4414:Naaladl1 UTSW 19 6,165,581 (GRCm39) missense probably damaging 1.00
R4694:Naaladl1 UTSW 19 6,158,920 (GRCm39) missense probably damaging 1.00
R5819:Naaladl1 UTSW 19 6,159,684 (GRCm39) missense possibly damaging 0.83
R6103:Naaladl1 UTSW 19 6,158,743 (GRCm39) missense probably damaging 0.99
R6141:Naaladl1 UTSW 19 6,159,785 (GRCm39) critical splice donor site probably null
R6896:Naaladl1 UTSW 19 6,159,335 (GRCm39) splice site probably null
R6950:Naaladl1 UTSW 19 6,156,011 (GRCm39) missense probably damaging 1.00
R7130:Naaladl1 UTSW 19 6,156,018 (GRCm39) missense probably benign 0.03
R7810:Naaladl1 UTSW 19 6,159,694 (GRCm39) missense probably damaging 1.00
R7972:Naaladl1 UTSW 19 6,156,274 (GRCm39) missense probably damaging 1.00
R8343:Naaladl1 UTSW 19 6,159,703 (GRCm39) missense possibly damaging 0.76
R8468:Naaladl1 UTSW 19 6,158,615 (GRCm39) missense probably damaging 1.00
R9004:Naaladl1 UTSW 19 6,155,965 (GRCm39) missense probably damaging 1.00
R9052:Naaladl1 UTSW 19 6,158,716 (GRCm39) missense probably benign 0.19
R9314:Naaladl1 UTSW 19 6,162,401 (GRCm39) missense probably damaging 1.00
R9390:Naaladl1 UTSW 19 6,162,725 (GRCm39) missense probably damaging 0.97
R9432:Naaladl1 UTSW 19 6,156,917 (GRCm39) missense possibly damaging 0.82
Predicted Primers PCR Primer
(F):5'- AATGCTGAGTTCCAGGTAACC -3'
(R):5'- TTTCACCCACTACCGTGAGC -3'

Sequencing Primer
(F):5'- GAGTTCCAGGTAACCTCTCACTGAC -3'
(R):5'- TACCGTGAGCAGGTGTCCTTAAC -3'
Posted On 2019-05-13