Incidental Mutation 'R5908:Khnyn'
ID 460813
Institutional Source Beutler Lab
Gene Symbol Khnyn
Ensembl Gene ENSMUSG00000047153
Gene Name KH and NYN domain containing
Synonyms 9130227C08Rik
MMRRC Submission 044105-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.104) question?
Stock # R5908 (G1)
Quality Score 225
Status Validated
Chromosome 14
Chromosomal Location 56122404-56136232 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 56124523 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Glycine at position 259 (D259G)
Ref Sequence ENSEMBL: ENSMUSP00000153796 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000022831] [ENSMUST00000063871] [ENSMUST00000172378] [ENSMUST00000228462]
AlphaFold Q80U38
Predicted Effect probably benign
Transcript: ENSMUST00000022831
AA Change: D259G

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000022831
Gene: ENSMUSG00000047153
AA Change: D259G

DomainStartEndE-ValueType
low complexity region 350 365 N/A INTRINSIC
low complexity region 367 380 N/A INTRINSIC
Pfam:RNase_Zc3h12a 429 582 1.9e-66 PFAM
low complexity region 623 637 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000063871
SMART Domains Protein: ENSMUSP00000070494
Gene: ENSMUSG00000040380

DomainStartEndE-ValueType
signal peptide 1 24 N/A INTRINSIC
C1Q 57 197 6.3e-40 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000172378
SMART Domains Protein: ENSMUSP00000127798
Gene: ENSMUSG00000040380

DomainStartEndE-ValueType
signal peptide 1 24 N/A INTRINSIC
C1Q 57 197 6.3e-40 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000227462
Predicted Effect probably benign
Transcript: ENSMUST00000228462
AA Change: D259G

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
Coding Region Coverage
  • 1x: 99.8%
  • 3x: 99.4%
  • 10x: 97.3%
  • 20x: 91.8%
Validation Efficiency 97% (69/71)
MGI Phenotype FUNCTION: This gene encodes a protein with a C-terminal RNA modifying domain that belongs to a family of ribonucleases typified by eukaryotic Nedd4-binding protein1 and the bacterial YacP-like nucleases (NYN). The NYN domain shares a common protein fold with two other groups of nucleases, the PilT N-terminal nuclease and FLAP nuclease superfamilies. In addition to the NYN domain, the protein encoded by this gene also contains an N-terminal K homology RNA-binding domain. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Aug 2016]
Allele List at MGI
Other mutations in this stock
Total: 61 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcc10 A T 17: 46,624,730 (GRCm39) L198H probably damaging Het
Anks1 C T 17: 28,214,993 (GRCm39) T480I probably damaging Het
Arhgef18 G A 8: 3,503,165 (GRCm39) R857Q probably damaging Het
B230208B08Rik A G 4: 78,132,297 (GRCm39) noncoding transcript Het
B9d2 T A 7: 25,382,724 (GRCm39) W33R probably damaging Het
Bcl2a1c A G 9: 114,159,572 (GRCm39) T117A probably benign Het
Btbd8 T G 5: 107,655,460 (GRCm39) D574E probably damaging Het
Cabin1 A G 10: 75,557,366 (GRCm39) S1091P probably damaging Het
Clip3 C A 7: 29,996,298 (GRCm39) D64E probably damaging Het
Col6a5 C G 9: 105,740,000 (GRCm39) D2540H possibly damaging Het
Commd5 A T 15: 76,785,136 (GRCm39) M178L probably benign Het
Crtc3 T A 7: 80,245,542 (GRCm39) H361L possibly damaging Het
Dip2b T A 15: 100,049,065 (GRCm39) L153Q possibly damaging Het
Eif2s1 T A 12: 78,926,817 (GRCm39) V189D probably damaging Het
Etl4 C T 2: 20,748,718 (GRCm39) A483V probably damaging Het
Foxo3 T C 10: 42,072,583 (GRCm39) I645V probably benign Het
Gm4841 A G 18: 60,403,506 (GRCm39) S196P possibly damaging Het
Hip1 A G 5: 135,453,717 (GRCm39) probably null Het
Il36rn G T 2: 24,167,502 (GRCm39) probably benign Het
Ints2 A G 11: 86,106,371 (GRCm39) probably null Het
Lyst T A 13: 13,871,346 (GRCm39) Y2694* probably null Het
Map4k2 T C 19: 6,401,346 (GRCm39) probably benign Het
Marchf10 C T 11: 105,281,065 (GRCm39) V407I probably benign Het
Mast4 C A 13: 102,874,764 (GRCm39) V1367F probably damaging Het
Mrgprb3 A T 7: 48,293,366 (GRCm39) S62T probably damaging Het
Mthfd1l T C 10: 4,039,392 (GRCm39) F801S probably damaging Het
Nhsl3 A G 4: 129,115,941 (GRCm39) S908P probably damaging Het
Notch2 T C 3: 98,031,239 (GRCm39) probably benign Het
Nr2e1 T C 10: 42,448,765 (GRCm39) S158G probably benign Het
Nup214 A G 2: 31,881,353 (GRCm39) I404V probably benign Het
Or13n4 T C 7: 106,423,404 (GRCm39) T110A probably benign Het
Pik3c2g G A 6: 139,714,436 (GRCm39) R196H Het
Pik3r3 A T 4: 116,129,955 (GRCm39) D213V probably benign Het
Pip5k1b A T 19: 24,374,501 (GRCm39) S27T possibly damaging Het
Pkp1 G A 1: 135,846,621 (GRCm39) Q44* probably null Het
Pnma8b C T 7: 16,680,968 (GRCm39) R651C unknown Het
Pnpt1 T A 11: 29,080,887 (GRCm39) S44T probably benign Het
Polb A T 8: 23,132,319 (GRCm39) probably null Het
Pom121l2 A G 13: 22,165,984 (GRCm39) N85S probably damaging Het
Prim1 A G 10: 127,853,893 (GRCm39) K104E probably damaging Het
Prl8a1 T A 13: 27,758,040 (GRCm39) Y223F probably benign Het
Rbak T G 5: 143,159,391 (GRCm39) H554P probably damaging Het
Serpina3c T C 12: 104,117,970 (GRCm39) R123G probably benign Het
Sh3bp4 T G 1: 89,073,605 (GRCm39) S818A probably damaging Het
Sh3rf3 C G 10: 58,885,270 (GRCm39) H384Q probably benign Het
Slc9a8 C T 2: 167,293,090 (GRCm39) probably benign Het
Sptbn4 T C 7: 27,103,678 (GRCm39) E1181G probably benign Het
Taf2 G A 15: 54,935,402 (GRCm39) probably benign Het
Taf7l2 A T 10: 115,949,133 (GRCm39) I131N probably benign Het
Tbc1d9 A T 8: 83,976,174 (GRCm39) M578L probably benign Het
Tinagl1 G T 4: 130,066,763 (GRCm39) Y111* probably null Het
Tor2a T C 2: 32,651,697 (GRCm39) L304P probably damaging Het
Trp53bp1 A G 2: 121,067,304 (GRCm39) V474A probably benign Het
Trrap C A 5: 144,723,518 (GRCm39) A325E probably damaging Het
Ube4a A G 9: 44,859,322 (GRCm39) probably null Het
Use1 G C 8: 71,822,257 (GRCm39) K239N probably damaging Het
Vps9d1 G T 8: 123,973,563 (GRCm39) Q407K probably benign Het
Zfp36l1 A T 12: 80,156,449 (GRCm39) S311T possibly damaging Het
Zfp729b T C 13: 67,739,374 (GRCm39) K964E probably benign Het
Zfp974 T A 7: 27,610,382 (GRCm39) M448L probably benign Het
Zfyve28 A T 5: 34,374,214 (GRCm39) V600E possibly damaging Het
Other mutations in Khnyn
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01746:Khnyn APN 14 56,124,439 (GRCm39) missense probably benign 0.02
IGL01924:Khnyn APN 14 56,132,426 (GRCm39) missense probably benign 0.03
IGL01990:Khnyn APN 14 56,125,045 (GRCm39) missense possibly damaging 0.87
R0310:Khnyn UTSW 14 56,125,425 (GRCm39) missense probably damaging 1.00
R1822:Khnyn UTSW 14 56,123,309 (GRCm39) missense probably damaging 1.00
R2248:Khnyn UTSW 14 56,124,195 (GRCm39) missense probably benign 0.30
R4333:Khnyn UTSW 14 56,131,499 (GRCm39) missense probably damaging 1.00
R4334:Khnyn UTSW 14 56,131,499 (GRCm39) missense probably damaging 1.00
R4600:Khnyn UTSW 14 56,124,438 (GRCm39) missense probably benign 0.02
R4731:Khnyn UTSW 14 56,123,946 (GRCm39) splice site probably null
R4732:Khnyn UTSW 14 56,123,946 (GRCm39) splice site probably null
R4733:Khnyn UTSW 14 56,123,946 (GRCm39) splice site probably null
R5063:Khnyn UTSW 14 56,124,660 (GRCm39) nonsense probably null
R5434:Khnyn UTSW 14 56,124,957 (GRCm39) missense probably damaging 1.00
R5928:Khnyn UTSW 14 56,123,344 (GRCm39) missense probably damaging 1.00
R6144:Khnyn UTSW 14 56,125,296 (GRCm39) missense probably damaging 0.98
R6147:Khnyn UTSW 14 56,125,060 (GRCm39) missense probably damaging 1.00
R6353:Khnyn UTSW 14 56,131,760 (GRCm39) missense possibly damaging 0.89
R7179:Khnyn UTSW 14 56,131,811 (GRCm39) missense probably damaging 1.00
R7658:Khnyn UTSW 14 56,124,596 (GRCm39) nonsense probably null
R7755:Khnyn UTSW 14 56,125,425 (GRCm39) missense probably damaging 1.00
R7831:Khnyn UTSW 14 56,125,303 (GRCm39) critical splice donor site probably null
R7947:Khnyn UTSW 14 56,125,059 (GRCm39) missense probably damaging 1.00
R8006:Khnyn UTSW 14 56,125,047 (GRCm39) missense probably benign 0.11
R8546:Khnyn UTSW 14 56,123,275 (GRCm39) missense probably benign 0.00
R8753:Khnyn UTSW 14 56,125,223 (GRCm39) missense possibly damaging 0.68
R8877:Khnyn UTSW 14 56,131,782 (GRCm39) missense possibly damaging 0.94
R8901:Khnyn UTSW 14 56,124,043 (GRCm39) missense probably damaging 1.00
R8911:Khnyn UTSW 14 56,124,735 (GRCm39) missense probably benign 0.00
R9541:Khnyn UTSW 14 56,124,109 (GRCm39) missense possibly damaging 0.63
Predicted Primers PCR Primer
(F):5'- ACTAGGGAGGATGCCTACAC -3'
(R):5'- GTTCACCCTGCACACTGAAC -3'

Sequencing Primer
(F):5'- ATCTAGAGGGCAGGGTCCATCTC -3'
(R):5'- GAACCCTCCTCTTTGCTGAG -3'
Posted On 2017-02-28