Incidental Mutation 'IGL01990:Khnyn'
| ID |
182041 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Khnyn
|
| Ensembl Gene |
ENSMUSG00000047153 |
| Gene Name |
KH and NYN domain containing |
| Synonyms |
9130227C08Rik |
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.104)
|
| Stock # |
IGL01990
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
14 |
| Chromosomal Location |
56122404-56136232 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to G
at 56125045 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Serine
at position 433
(I433S)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000022831
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000022831]
[ENSMUST00000063871]
[ENSMUST00000172378]
[ENSMUST00000228462]
|
| AlphaFold |
Q80U38 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000022831
AA Change: I433S
PolyPhen 2
Score 0.866 (Sensitivity: 0.83; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000022831
Gene: ENSMUSG00000047153
AA Change: I433S
| 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: ENSMUST00000063871
|
| SMART Domains |
Protein: ENSMUSP00000070494
Gene: ENSMUSG00000040380
| Domain | Start | End | E-Value | Type |
|---|
|
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
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
24 |
N/A |
INTRINSIC |
|
C1Q
|
57 |
197 |
6.3e-40 |
SMART |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000227462
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000228462
AA Change: I433S
PolyPhen 2
Score 0.856 (Sensitivity: 0.83; Specificity: 0.93)
|
| Coding Region Coverage |
|
| 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: 30 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Actl9 |
A |
G |
17: 33,653,068 (GRCm39) |
N376S |
probably benign |
Het |
| Adgrv1 |
T |
C |
13: 81,705,115 (GRCm39) |
D1565G |
probably damaging |
Het |
| Atf5 |
T |
G |
7: 44,462,473 (GRCm39) |
D217A |
probably damaging |
Het |
| Azgp1 |
T |
C |
5: 137,987,997 (GRCm39) |
W260R |
probably damaging |
Het |
| Cnr2 |
C |
T |
4: 135,644,116 (GRCm39) |
R65C |
probably damaging |
Het |
| Col14a1 |
A |
G |
15: 55,226,859 (GRCm39) |
Y203C |
unknown |
Het |
| Colec11 |
A |
G |
12: 28,644,985 (GRCm39) |
Y170H |
probably benign |
Het |
| Exosc10 |
A |
G |
4: 148,650,867 (GRCm39) |
Q471R |
possibly damaging |
Het |
| Gal3st1 |
G |
T |
11: 3,948,741 (GRCm39) |
W316L |
probably damaging |
Het |
| Igfbp3 |
C |
A |
11: 7,158,504 (GRCm39) |
R253L |
probably damaging |
Het |
| Kcnb2 |
A |
T |
1: 15,383,178 (GRCm39) |
D168V |
probably benign |
Het |
| Naaa |
T |
A |
5: 92,415,922 (GRCm39) |
T193S |
possibly damaging |
Het |
| Nsun7 |
G |
A |
5: 66,418,416 (GRCm39) |
D49N |
probably damaging |
Het |
| Pappa |
T |
C |
4: 65,074,924 (GRCm39) |
|
probably benign |
Het |
| Pfkfb2 |
A |
G |
1: 130,633,107 (GRCm39) |
|
probably benign |
Het |
| Pkd1l3 |
C |
T |
8: 110,387,438 (GRCm39) |
T1794I |
probably damaging |
Het |
| Prex2 |
A |
C |
1: 11,193,457 (GRCm39) |
|
probably benign |
Het |
| Slc2a7 |
T |
G |
4: 150,239,141 (GRCm39) |
I122S |
possibly damaging |
Het |
| Slc31a2 |
A |
G |
4: 62,214,207 (GRCm39) |
K53E |
probably benign |
Het |
| Slc35f4 |
C |
T |
14: 49,541,626 (GRCm39) |
|
probably null |
Het |
| Slc38a7 |
C |
T |
8: 96,571,590 (GRCm39) |
W213* |
probably null |
Het |
| Slc5a4b |
T |
C |
10: 75,896,188 (GRCm39) |
E589G |
probably benign |
Het |
| Syne2 |
A |
G |
12: 76,101,707 (GRCm39) |
N5407S |
probably damaging |
Het |
| Tgm2 |
A |
T |
2: 157,966,051 (GRCm39) |
D534E |
probably benign |
Het |
| Ugt1a7c |
A |
G |
1: 88,023,324 (GRCm39) |
Y161C |
probably damaging |
Het |
| Vmn2r114 |
A |
G |
17: 23,529,355 (GRCm39) |
M249T |
probably benign |
Het |
| Xkr9 |
A |
G |
1: 13,771,203 (GRCm39) |
I240V |
probably benign |
Het |
| Zfat |
A |
G |
15: 68,096,666 (GRCm39) |
L49P |
probably damaging |
Het |
| Zfhx2 |
G |
T |
14: 55,311,047 (GRCm39) |
P549H |
probably damaging |
Het |
| Zfp551 |
C |
T |
7: 12,156,343 (GRCm39) |
V25M |
possibly damaging |
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 |
|
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 |
|
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 |
|
| Posted On |
2014-05-07 |
Incidental Mutation