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)
|
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
Domain | Start | End | E-Value | Type |
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
Domain | Start | End | E-Value | Type |
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
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
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 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH 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 |