Incidental Mutation 'R7115:Axdnd1'
ID 551714
Institutional Source Beutler Lab
Gene Symbol Axdnd1
Ensembl Gene ENSMUSG00000026601
Gene Name axonemal dynein light chain domain containing 1
Synonyms LOC381304, 9430070O13Rik
MMRRC Submission 045206-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.128) question?
Stock # R7115 (G1)
Quality Score 225.009
Status Not validated
Chromosome 1
Chromosomal Location 156323509-156421159 bp(-) (GRCm38)
Type of Mutation missense
DNA Base Change (assembly) T to C at 156380876 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change Lysine to Arginine at position 267 (K267R)
Gene Model predicted gene model for transcript(s): [ENSMUST00000177824] [ENSMUST00000178036] [ENSMUST00000213088]
AlphaFold no structure available at present
Predicted Effect probably benign
Transcript: ENSMUST00000177824
AA Change: K399R

PolyPhen 2 Score 0.147 (Sensitivity: 0.92; Specificity: 0.87)
SMART Domains Protein: ENSMUSP00000135900
Gene: ENSMUSG00000026601
AA Change: K399R

DomainStartEndE-ValueType
Pfam:Ax_dynein_light 131 314 2.4e-12 PFAM
low complexity region 405 414 N/A INTRINSIC
low complexity region 452 464 N/A INTRINSIC
low complexity region 666 677 N/A INTRINSIC
coiled coil region 787 837 N/A INTRINSIC
Predicted Effect possibly damaging
Transcript: ENSMUST00000178036
AA Change: K464R

PolyPhen 2 Score 0.907 (Sensitivity: 0.81; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000137354
Gene: ENSMUSG00000026601
AA Change: K464R

DomainStartEndE-ValueType
Pfam:Ax_dynein_light 196 380 3.3e-14 PFAM
low complexity region 470 479 N/A INTRINSIC
low complexity region 517 529 N/A INTRINSIC
low complexity region 731 742 N/A INTRINSIC
coiled coil region 889 939 N/A INTRINSIC
Predicted Effect
Predicted Effect probably benign
Transcript: ENSMUST00000213088
AA Change: K464R

PolyPhen 2 Score 0.353 (Sensitivity: 0.90; Specificity: 0.89)
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.7%
  • 20x: 99.0%
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 36 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcc1 T A 16: 14,437,725 (GRCm38) I636N probably benign Het
Adam5 A G 8: 24,781,696 (GRCm38) I565T possibly damaging Het
Amd2 C A 10: 35,711,637 (GRCm38) probably benign Het
Ap5m1 T A 14: 49,086,270 (GRCm38) Y472* probably null Het
Apcdd1 T C 18: 62,936,953 (GRCm38) F97S probably damaging Het
Carf G T 1: 60,148,150 (GRCm38) L637F probably damaging Het
Ccdc103 A T 11: 102,883,810 (GRCm38) S95C possibly damaging Het
Cfap20 T C 8: 95,421,246 (GRCm38) I156V probably benign Het
Csn1s2a T C 5: 87,781,805 (GRCm38) C96R probably benign Het
Cspg4b T G 13: 113,320,776 (GRCm38) S1119A Het
Ctif CGGGGCACACTTTGCTCTTACCTCCCGGAGGCACGTGTAGATGGGGCACACTTTGCTCTTACCTCCCGGAGGCACGTGTAGATGGGGCACAC CGGGGCACACTTTGCTCTTACCTCCCGGAGGCACGTGTAGATGGGGCACAC 18: 75,471,803 (GRCm38) probably benign Het
Dennd2a G A 6: 39,506,711 (GRCm38) T405M probably damaging Het
Dennd5a A G 7: 109,894,754 (GRCm38) Y1248H probably damaging Het
Dnah14 A T 1: 181,720,145 (GRCm38) K2504N probably damaging Het
Dnajb2 G A 1: 75,243,662 (GRCm38) G275D Het
Elf3 T G 1: 135,257,118 (GRCm38) D110A probably damaging Het
Eomes A G 9: 118,484,489 (GRCm38) N534S probably benign Het
Fry A T 5: 150,386,067 (GRCm38) R659W probably damaging Het
Gm10428 G A 11: 62,753,380 (GRCm38) C94Y unknown Het
Gm2696 T A 10: 77,836,299 (GRCm38) C111S unknown Het
Gpt2 G A 8: 85,518,052 (GRCm38) E325K probably benign Het
Lrp1b T A 2: 40,998,235 (GRCm38) N2338Y Het
Map2k1 A G 9: 64,212,606 (GRCm38) I139T probably damaging Het
Or10n7-ps1 T C 9: 39,686,707 (GRCm38) Y79C probably benign Het
Or8g20 T C 9: 39,484,648 (GRCm38) I202V probably benign Het
Pxylp1 G A 9: 96,825,010 (GRCm38) T373I probably benign Het
Ranbp9 T C 13: 43,406,671 (GRCm38) N484S probably benign Het
Rassf5 A G 1: 131,181,249 (GRCm38) V293A probably benign Het
Ring1 A G 17: 34,023,446 (GRCm38) I29T probably damaging Het
Scn1a G A 2: 66,324,618 (GRCm38) Q666* probably null Het
Spice1 G A 16: 44,379,275 (GRCm38) G697R probably benign Het
Tas2r131 A G 6: 132,957,604 (GRCm38) F81L probably benign Het
Tenm2 G A 11: 36,163,817 (GRCm38) S572L probably damaging Het
Tfr2 A G 5: 137,571,715 (GRCm38) T128A probably benign Het
Trim56 T A 5: 137,113,660 (GRCm38) Q334L probably damaging Het
Vmn2r44 T A 7: 8,367,528 (GRCm38) R840* probably null Het
Other mutations in Axdnd1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL03058:Axdnd1 APN 1 156,376,663 (GRCm38) missense probably benign 0.41
IGL03075:Axdnd1 APN 1 156,395,442 (GRCm38) missense probably damaging 1.00
IGL03165:Axdnd1 APN 1 156,378,389 (GRCm38) missense probably benign 0.00
R0164:Axdnd1 UTSW 1 156,378,386 (GRCm38) missense possibly damaging 0.93
R0164:Axdnd1 UTSW 1 156,378,386 (GRCm38) missense possibly damaging 0.93
R0739:Axdnd1 UTSW 1 156,380,886 (GRCm38) missense possibly damaging 0.73
R1087:Axdnd1 UTSW 1 156,365,689 (GRCm38) missense probably benign 0.08
R1350:Axdnd1 UTSW 1 156,378,380 (GRCm38) critical splice donor site probably null
R1488:Axdnd1 UTSW 1 156,348,960 (GRCm38) missense probably damaging 1.00
R1493:Axdnd1 UTSW 1 156,346,701 (GRCm38) missense probably benign 0.03
R1845:Axdnd1 UTSW 1 156,376,544 (GRCm38) missense possibly damaging 0.58
R1900:Axdnd1 UTSW 1 156,380,774 (GRCm38) splice site probably null
R2126:Axdnd1 UTSW 1 156,333,214 (GRCm38) missense probably benign 0.03
R2163:Axdnd1 UTSW 1 156,392,003 (GRCm38) missense probably damaging 1.00
R2169:Axdnd1 UTSW 1 156,418,309 (GRCm38) missense probably damaging 1.00
R2380:Axdnd1 UTSW 1 156,365,651 (GRCm38) missense probably benign 0.02
R2568:Axdnd1 UTSW 1 156,392,749 (GRCm38) missense possibly damaging 0.90
R3052:Axdnd1 UTSW 1 156,341,870 (GRCm38) missense probably damaging 0.96
R3053:Axdnd1 UTSW 1 156,341,870 (GRCm38) missense probably damaging 0.96
R3767:Axdnd1 UTSW 1 156,380,858 (GRCm38) missense probably damaging 1.00
R3927:Axdnd1 UTSW 1 156,419,270 (GRCm38) missense probably damaging 1.00
R3936:Axdnd1 UTSW 1 156,331,639 (GRCm38) missense probably benign 0.01
R4829:Axdnd1 UTSW 1 156,376,646 (GRCm38) missense possibly damaging 0.93
R4882:Axdnd1 UTSW 1 156,395,559 (GRCm38) splice site probably null
R4969:Axdnd1 UTSW 1 156,395,505 (GRCm38) missense possibly damaging 0.95
R5091:Axdnd1 UTSW 1 156,420,410 (GRCm38) missense possibly damaging 0.83
R5510:Axdnd1 UTSW 1 156,335,350 (GRCm38) missense probably benign 0.03
R5549:Axdnd1 UTSW 1 156,398,534 (GRCm38) missense probably damaging 1.00
R5587:Axdnd1 UTSW 1 156,351,412 (GRCm38) missense probably damaging 1.00
R5792:Axdnd1 UTSW 1 156,341,889 (GRCm38) missense probably damaging 0.99
R5840:Axdnd1 UTSW 1 156,348,958 (GRCm38) missense probably damaging 1.00
R6187:Axdnd1 UTSW 1 156,365,612 (GRCm38) splice site probably null
R6208:Axdnd1 UTSW 1 156,392,856 (GRCm38) intron probably benign
R6369:Axdnd1 UTSW 1 156,392,745 (GRCm38) missense probably damaging 1.00
R6493:Axdnd1 UTSW 1 156,380,813 (GRCm38) missense probably damaging 1.00
R7014:Axdnd1 UTSW 1 156,330,962 (GRCm38) splice site probably null
R7203:Axdnd1 UTSW 1 156,382,389 (GRCm38) missense probably damaging 0.98
R7352:Axdnd1 UTSW 1 156,382,477 (GRCm38) missense possibly damaging 0.91
R7447:Axdnd1 UTSW 1 156,418,232 (GRCm38) critical splice donor site probably null
R7470:Axdnd1 UTSW 1 156,376,516 (GRCm38) missense
R7686:Axdnd1 UTSW 1 156,395,464 (GRCm38) nonsense probably null
R7793:Axdnd1 UTSW 1 156,338,743 (GRCm38) critical splice donor site probably null
R7809:Axdnd1 UTSW 1 156,392,801 (GRCm38) nonsense probably null
R7882:Axdnd1 UTSW 1 156,397,453 (GRCm38) missense
R8256:Axdnd1 UTSW 1 156,330,666 (GRCm38) missense unknown
R8348:Axdnd1 UTSW 1 156,418,284 (GRCm38) missense probably benign 0.02
R8971:Axdnd1 UTSW 1 156,391,946 (GRCm38) missense
R9207:Axdnd1 UTSW 1 156,388,046 (GRCm38) missense
R9294:Axdnd1 UTSW 1 156,420,347 (GRCm38) nonsense probably null
R9741:Axdnd1 UTSW 1 156,341,815 (GRCm38) missense probably benign 0.18
X0009:Axdnd1 UTSW 1 156,388,079 (GRCm38) missense possibly damaging 0.61
X0067:Axdnd1 UTSW 1 156,376,535 (GRCm38) missense possibly damaging 0.67
Z1176:Axdnd1 UTSW 1 156,349,063 (GRCm38) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- TCCAAACAGTGCTCTGGACC -3'
(R):5'- TCCATGTAGCACAGAAAGCC -3'

Sequencing Primer
(F):5'- GCTCTGGACCAGCAATGAGTATTC -3'
(R):5'- AAAATGTCTTCTCAACTTTTGACCC -3'
Posted On 2019-05-15