Incidental Mutation 'R6353:Khnyn'
ID 512311
Institutional Source Beutler Lab
Gene Symbol Khnyn
Ensembl Gene ENSMUSG00000047153
Gene Name KH and NYN domain containing
Synonyms 9130227C08Rik
MMRRC Submission 044505-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.104) question?
Stock # R6353 (G1)
Quality Score 225.009
Status Not validated
Chromosome 14
Chromosomal Location 56122404-56136232 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 56131760 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Phenylalanine to Leucine at position 561 (F561L)
Ref Sequence ENSEMBL: ENSMUSP00000022831 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000022831] [ENSMUST00000111325] [ENSMUST00000226273] [ENSMUST00000227032] [ENSMUST00000227211] [ENSMUST00000228462]
AlphaFold Q80U38
Predicted Effect possibly damaging
Transcript: ENSMUST00000022831
AA Change: F561L

PolyPhen 2 Score 0.890 (Sensitivity: 0.82; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000022831
Gene: ENSMUSG00000047153
AA Change: F561L

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: ENSMUST00000111325
SMART Domains Protein: ENSMUSP00000106957
Gene: ENSMUSG00000022223

DomainStartEndE-ValueType
Pfam:Epimerase 3 216 2.7e-7 PFAM
Pfam:DUF1731 245 291 5.9e-21 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000226273
Predicted Effect noncoding transcript
Transcript: ENSMUST00000226338
Predicted Effect noncoding transcript
Transcript: ENSMUST00000226427
Predicted Effect noncoding transcript
Transcript: ENSMUST00000226746
Predicted Effect noncoding transcript
Transcript: ENSMUST00000227499
Predicted Effect noncoding transcript
Transcript: ENSMUST00000227712
Predicted Effect probably benign
Transcript: ENSMUST00000227032
Predicted Effect noncoding transcript
Transcript: ENSMUST00000228151
Predicted Effect noncoding transcript
Transcript: ENSMUST00000228209
Predicted Effect noncoding transcript
Transcript: ENSMUST00000227965
Predicted Effect noncoding transcript
Transcript: ENSMUST00000227139
Predicted Effect noncoding transcript
Transcript: ENSMUST00000227268
Predicted Effect probably benign
Transcript: ENSMUST00000227211
Predicted Effect noncoding transcript
Transcript: ENSMUST00000227163
Predicted Effect noncoding transcript
Transcript: ENSMUST00000227462
Predicted Effect probably benign
Transcript: ENSMUST00000227387
Predicted Effect probably benign
Transcript: ENSMUST00000228462
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.5%
  • 10x: 97.8%
  • 20x: 93.3%
Validation Efficiency
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: 41 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930550C14Rik C A 9: 53,325,642 (GRCm39) Q60K probably benign Het
Aadacl2fm2 A T 3: 59,659,529 (GRCm39) L327F probably damaging Het
Aamp T C 1: 74,319,987 (GRCm39) D397G probably benign Het
Aco1 G A 4: 40,186,367 (GRCm39) R593Q probably benign Het
Acta1 T C 8: 124,620,426 (GRCm39) E4G probably benign Het
Apob A T 12: 8,059,421 (GRCm39) K2601N probably damaging Het
Arpin C A 7: 79,585,093 (GRCm39) probably benign Het
Asnsd1 T C 1: 53,386,938 (GRCm39) I230V probably benign Het
Baiap2l1 C T 5: 144,218,898 (GRCm39) E237K possibly damaging Het
Chek1 T C 9: 36,635,255 (GRCm39) K43E probably benign Het
Clec2g T A 6: 128,959,895 (GRCm39) probably null Het
Cnot10 A G 9: 114,426,614 (GRCm39) L646P probably damaging Het
Cyp2j9 T C 4: 96,474,135 (GRCm39) T102A probably benign Het
Dnase1l2 A T 17: 24,661,219 (GRCm39) L30Q probably damaging Het
Edc3 T C 9: 57,623,520 (GRCm39) S152P probably benign Het
Gask1b A T 3: 79,848,647 (GRCm39) R464S probably damaging Het
Gpr160 A T 3: 30,950,171 (GRCm39) D81V probably damaging Het
Intu A T 3: 40,608,138 (GRCm39) D32V probably damaging Het
Itga5 T C 15: 103,260,950 (GRCm39) E512G probably damaging Het
Kmt2e T A 5: 23,698,243 (GRCm39) V645E probably damaging Het
Mcoln3 T C 3: 145,836,909 (GRCm39) F247S probably damaging Het
Nek9 G A 12: 85,348,603 (GRCm39) T977I probably damaging Het
Nphs1 A G 7: 30,173,969 (GRCm39) T1015A probably damaging Het
Ntmt2 A G 1: 163,531,680 (GRCm39) Y158H possibly damaging Het
Nudcd1 T C 15: 44,284,158 (GRCm39) Y76C probably damaging Het
Or2a54 C A 6: 43,093,070 (GRCm39) Y131* probably null Het
Or8b44 T C 9: 38,410,112 (GRCm39) I49T probably benign Het
Pgd C T 4: 149,245,209 (GRCm39) probably null Het
Prl7c1 A G 13: 27,957,709 (GRCm39) S244P possibly damaging Het
Rpap1 G T 2: 119,607,377 (GRCm39) probably null Het
Rrp8 G A 7: 105,383,325 (GRCm39) R314* probably null Het
Smarca4 T A 9: 21,590,445 (GRCm39) probably null Het
Stambpl1 A G 19: 34,211,520 (GRCm39) probably null Het
Tmeff2 T C 1: 51,220,985 (GRCm39) V320A probably damaging Het
Top2b A G 14: 16,416,671 (GRCm38) K83E probably damaging Het
Ttc39b C G 4: 83,148,730 (GRCm39) V560L probably benign Het
Ttn A T 2: 76,672,153 (GRCm39) probably benign Het
Usp32 T C 11: 84,913,107 (GRCm39) I934V probably benign Het
Uxs1 T C 1: 43,836,410 (GRCm39) I122V probably damaging Het
Vmn1r168 A G 7: 23,240,944 (GRCm39) N267S probably benign Het
Vmn2r16 A G 5: 109,488,119 (GRCm39) N331D probably benign 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
R5908:Khnyn UTSW 14 56,124,523 (GRCm39) missense probably benign
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
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'- ATGGCGATCATCAGAGAGC -3'
(R):5'- AATTAAGCCGGCCCAAGCTG -3'

Sequencing Primer
(F):5'- GGCTCACACCTTTCTCTAAACCAG -3'
(R):5'- GCTGTGACACTCCATCCAAG -3'
Posted On 2018-04-27