Incidental Mutation 'R5434:Khnyn'
ID428228
Institutional Source Beutler Lab
Gene Symbol Khnyn
Ensembl Gene ENSMUSG00000047153
Gene NameKH and NYN domain containing
Synonyms
MMRRC Submission 042999-MU
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.134) question?
Stock #R5434 (G1)
Quality Score225
Status Validated
Chromosome14
Chromosomal Location55884947-55898775 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to G at 55887500 bp
ZygosityHeterozygous
Amino Acid Change Threonine to Alanine at position 404 (T404A)
Ref Sequence ENSEMBL: ENSMUSP00000022831 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000022831] [ENSMUST00000063871] [ENSMUST00000172378] [ENSMUST00000228462]
Predicted Effect probably damaging
Transcript: ENSMUST00000022831
AA Change: T404A

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000022831
Gene: ENSMUSG00000047153
AA Change: T404A

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 damaging
Transcript: ENSMUST00000228462
AA Change: T404A

PolyPhen 2 Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)
Meta Mutation Damage Score 0.2967 question?
Coding Region Coverage
  • 1x: 99.3%
  • 3x: 98.7%
  • 10x: 97.4%
  • 20x: 95.6%
Validation Efficiency 100% (57/57)
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: 55 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4932438A13Rik A C 3: 36,875,516 D94A probably damaging Het
Angptl6 G T 9: 20,875,525 Q301K probably damaging Het
Ankfn1 T C 11: 89,453,187 Y323C probably damaging Het
Arid5b T A 10: 68,096,889 H818L possibly damaging Het
Armc4 T C 18: 7,222,550 K573R probably benign Het
Atg13 G T 2: 91,684,765 probably null Het
Bop1 T C 15: 76,455,411 M245V probably benign Het
Ccdc105 A T 10: 78,748,650 L346* probably null Het
Ces2a T A 8: 104,737,409 F224L probably damaging Het
Cntnap5b A G 1: 100,072,201 H228R probably benign Het
Col9a2 A T 4: 121,040,965 R25* probably null Het
Dcaf12 G T 4: 41,302,744 T137N probably benign Het
Dennd4c A G 4: 86,811,456 N765S probably benign Het
Dnah12 A G 14: 26,859,299 Y3162C probably damaging Het
Dpf1 G T 7: 29,311,331 C123F possibly damaging Het
Flvcr1 C A 1: 191,026,009 A29S probably benign Het
Frmd3 A T 4: 74,187,796 I560F probably damaging Het
Galnt15 G A 14: 32,049,843 V282I possibly damaging Het
Gm14412 A T 2: 177,314,612 C497S probably damaging Het
Gm20830 A T Y: 6,916,464 Y218* probably null Het
Hmcn2 C A 2: 31,420,363 T3323N probably damaging Het
Idh1 T A 1: 65,175,336 Q6L probably benign Het
Kansl2-ps A G 7: 72,673,065 noncoding transcript Het
Kcnj10 T A 1: 172,369,480 V187E probably damaging Het
Lrp1b T A 2: 41,770,868 N76I probably damaging Het
Lrrc9 G A 12: 72,454,088 C196Y probably damaging Het
Ltbr G A 6: 125,312,794 R146W probably damaging Het
Mgp T A 6: 136,872,774 N62I probably benign Het
Ms4a6c T A 19: 11,471,224 H40Q probably benign Het
Necab3 A G 2: 154,547,459 S121P probably damaging Het
Nfkb1 T A 3: 135,626,611 K128* probably null Het
Nr4a3 A T 4: 48,067,861 R486W probably damaging Het
Nwd2 A G 5: 63,807,648 K1525R probably benign Het
Pbrm1 G T 14: 31,085,011 D1085Y probably damaging Het
R3hdm4 C T 10: 79,912,458 E162K possibly damaging Het
Rbm15 A G 3: 107,330,467 S872P possibly damaging Het
Retsat A G 6: 72,601,535 I77V probably damaging Het
Rpl32 A G 6: 115,807,035 F77L probably benign Het
Ryr3 A T 2: 112,794,469 V2202D probably damaging Het
Sars2 G A 7: 28,750,291 R387Q probably null Het
Serpinb3d G T 1: 107,078,533 T275N probably benign Het
Sf3a1 C A 11: 4,174,041 P296Q probably damaging Het
Sh3bgr A G 16: 96,224,544 probably benign Het
St3gal3 A G 4: 117,940,050 L332P probably damaging Het
Ston1 A G 17: 88,645,311 probably benign Het
Syne2 T A 12: 75,971,875 S3383T probably damaging Het
Tnfsf14 A G 17: 57,192,592 S87P probably benign Het
Trap1 T C 16: 4,044,665 D583G probably benign Het
Ube2cbp A T 9: 86,427,407 I212N possibly damaging Het
Usp34 T A 11: 23,412,271 D1572E probably damaging Het
Vmn1r179 A T 7: 23,928,962 T193S probably benign Het
Vmn2r111 C A 17: 22,548,489 V676L probably damaging Het
Wee1 TCCCC TCCC 7: 110,124,569 probably null Het
Wls C T 3: 159,934,340 R536C probably damaging Het
Zfhx3 A G 8: 108,792,399 D51G probably damaging Het
Other mutations in Khnyn
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01746:Khnyn APN 14 55886982 missense probably benign 0.02
IGL01924:Khnyn APN 14 55894969 missense probably benign 0.03
IGL01990:Khnyn APN 14 55887588 missense possibly damaging 0.87
R0310:Khnyn UTSW 14 55887968 missense probably damaging 1.00
R1822:Khnyn UTSW 14 55885852 missense probably damaging 1.00
R2248:Khnyn UTSW 14 55886738 missense probably benign 0.30
R4333:Khnyn UTSW 14 55894042 missense probably damaging 1.00
R4334:Khnyn UTSW 14 55894042 missense probably damaging 1.00
R4600:Khnyn UTSW 14 55886981 missense probably benign 0.02
R4731:Khnyn UTSW 14 55886489 splice site probably null
R4732:Khnyn UTSW 14 55886489 splice site probably null
R4733:Khnyn UTSW 14 55886489 splice site probably null
R5063:Khnyn UTSW 14 55887203 nonsense probably null
R5908:Khnyn UTSW 14 55887066 missense probably benign
R5928:Khnyn UTSW 14 55885887 missense probably damaging 1.00
R6144:Khnyn UTSW 14 55887839 missense probably damaging 0.98
R6147:Khnyn UTSW 14 55887603 missense probably damaging 1.00
R6353:Khnyn UTSW 14 55894303 missense possibly damaging 0.89
R7179:Khnyn UTSW 14 55894354 missense probably damaging 1.00
R7658:Khnyn UTSW 14 55887139 nonsense probably null
R7755:Khnyn UTSW 14 55887968 missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- TTCAGTGTGCAGGGTGAACC -3'
(R):5'- AAGTAATGCTGGAGTCCGTG -3'

Sequencing Primer
(F):5'- TGTCAGAGGGCAGCTCCAATC -3'
(R):5'- TGTTACGGAGAGCGTCGAC -3'
Posted On2016-09-01