Incidental Mutation 'R4334:Khnyn'
| ID |
323708 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Khnyn
|
| Ensembl Gene |
ENSMUSG00000047153 |
| Gene Name |
KH and NYN domain containing |
| Synonyms |
9130227C08Rik |
| MMRRC Submission |
041664-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.104)
|
| Stock # |
R4334 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
14 |
| Chromosomal Location |
56122404-56136232 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 56131499 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Glycine
at position 536
(D536G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000153796
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000022831]
[ENSMUST00000111325]
[ENSMUST00000226273]
[ENSMUST00000227032]
[ENSMUST00000228462]
[ENSMUST00000227211]
|
| AlphaFold |
Q80U38 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000022831
AA Change: D536G
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000022831
Gene: ENSMUSG00000047153
AA Change: D536G
| 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 |
probably benign
Transcript: ENSMUST00000227032
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000228462
AA Change: D536G
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000227965
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000227139
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000227499
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000227211
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000227268
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000227712
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000227387
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000228209
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000227163
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000227462
|
| Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.7%
- 10x: 97.5%
- 20x: 95.8%
|
| 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: 42 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca17 |
A |
T |
17: 24,537,242 (GRCm39) |
V447E |
probably damaging |
Het |
| Adcyap1 |
T |
C |
17: 93,509,696 (GRCm39) |
L49P |
probably benign |
Het |
| B4galt4 |
T |
C |
16: 38,572,621 (GRCm39) |
I102T |
probably damaging |
Het |
| Cc2d2a |
A |
G |
5: 43,840,476 (GRCm39) |
D110G |
probably benign |
Het |
| Ccdc141 |
C |
T |
2: 77,000,776 (GRCm39) |
V19I |
probably damaging |
Het |
| Ccdc39 |
A |
G |
3: 33,892,031 (GRCm39) |
L147P |
probably damaging |
Het |
| Cdc5l |
A |
T |
17: 45,721,712 (GRCm39) |
D519E |
probably benign |
Het |
| Cdh23 |
G |
T |
10: 60,220,838 (GRCm39) |
T1305K |
probably damaging |
Het |
| Cfi |
T |
A |
3: 129,644,478 (GRCm39) |
V158D |
possibly damaging |
Het |
| Clstn2 |
T |
G |
9: 97,345,581 (GRCm39) |
Y589S |
probably damaging |
Het |
| Dsp |
A |
G |
13: 38,380,640 (GRCm39) |
K1863E |
possibly damaging |
Het |
| Enpp3 |
A |
T |
10: 24,669,487 (GRCm39) |
M491K |
probably damaging |
Het |
| Fhdc1 |
C |
A |
3: 84,352,133 (GRCm39) |
V1031F |
probably benign |
Het |
| Fkbp15 |
G |
A |
4: 62,221,456 (GRCm39) |
A1170V |
possibly damaging |
Het |
| Foxa2 |
T |
C |
2: 147,886,623 (GRCm39) |
N64S |
possibly damaging |
Het |
| Foxm1 |
T |
C |
6: 128,342,930 (GRCm39) |
I88T |
probably damaging |
Het |
| Gm3173 |
A |
T |
14: 15,728,364 (GRCm39) |
I8L |
possibly damaging |
Het |
| Gpatch3 |
A |
G |
4: 133,309,792 (GRCm39) |
D375G |
probably damaging |
Het |
| Herc2 |
T |
C |
7: 55,876,402 (GRCm39) |
F4436L |
probably damaging |
Het |
| Htr3b |
G |
A |
9: 48,856,809 (GRCm39) |
A223V |
probably damaging |
Het |
| Iars2 |
T |
A |
1: 185,035,591 (GRCm39) |
T550S |
probably benign |
Het |
| Igsf9 |
A |
T |
1: 172,321,779 (GRCm39) |
K149* |
probably null |
Het |
| Kng1 |
T |
C |
16: 22,898,370 (GRCm39) |
V409A |
possibly damaging |
Het |
| Krt1 |
AAGCTGCCACCCCCAAAGCCACCACCGCCGTAGCTGCCACCCCCAAAGCCACCACCGCCGTAGCTGCCACCCCCAAAGCCACCAC |
AAGCTGCCACCCCCAAAGCCACCACCGCCGTAGCTGCCACCCCCAAAGCCACCAC |
15: 101,758,813 (GRCm39) |
|
probably benign |
Het |
| Madd |
C |
T |
2: 90,970,917 (GRCm39) |
V1508I |
probably benign |
Het |
| Micall2 |
T |
C |
5: 139,699,105 (GRCm39) |
E527G |
probably damaging |
Het |
| Myo7b |
A |
G |
18: 32,110,040 (GRCm39) |
S1141P |
probably damaging |
Het |
| Ncoa2 |
G |
A |
1: 13,245,187 (GRCm39) |
P504S |
possibly damaging |
Het |
| Notch1 |
G |
A |
2: 26,350,048 (GRCm39) |
T2364I |
probably benign |
Het |
| Pde4c |
T |
A |
8: 71,202,475 (GRCm39) |
|
probably null |
Het |
| Pik3cb |
A |
G |
9: 98,943,904 (GRCm39) |
L633P |
probably damaging |
Het |
| Ranbp2 |
T |
A |
10: 58,299,816 (GRCm39) |
D483E |
probably damaging |
Het |
| Sh3tc2 |
A |
G |
18: 62,123,392 (GRCm39) |
N718D |
probably damaging |
Het |
| Spast |
G |
A |
17: 74,659,010 (GRCm39) |
A126T |
probably damaging |
Het |
| Ssc5d |
T |
C |
7: 4,946,663 (GRCm39) |
S1006P |
probably benign |
Het |
| Tmprss6 |
T |
A |
15: 78,343,627 (GRCm39) |
|
probably null |
Het |
| Ulk1 |
C |
T |
5: 110,937,223 (GRCm39) |
R691Q |
probably benign |
Het |
| Unc79 |
C |
T |
12: 103,045,233 (GRCm39) |
T803M |
probably benign |
Het |
| Vmn2r118 |
A |
T |
17: 55,917,347 (GRCm39) |
F388L |
possibly damaging |
Het |
| Vmn2r71 |
T |
C |
7: 85,269,042 (GRCm39) |
V415A |
probably benign |
Het |
| Wdr4 |
A |
T |
17: 31,718,126 (GRCm39) |
F316Y |
possibly damaging |
Het |
| Zfp810 |
T |
C |
9: 22,190,080 (GRCm39) |
Y276C |
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 |
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- CAGTTAAGTGAATGAGTTTGGAGAC -3'
(R):5'- ACGTCACAGAGATGACCTGG -3'
Sequencing Primer
(F):5'- AATGAGTTTGGAGACTGACCTC -3'
(R):5'- AGAGATGACCTGGCTACCTC -3'
|
| Posted On |
2015-06-24 |
Incidental Mutation