Incidental Mutation 'IGL03288:Nme8'
| ID |
415785 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Nme8
|
| Ensembl Gene |
ENSMUSG00000041138 |
| Gene Name |
NME/NM23 family member 8 |
| Synonyms |
Sptrx-2, 1700056P15Rik, Txndc3 |
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.137)
|
| Stock # |
IGL03288
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
13 |
| Chromosomal Location |
19829248-19881964 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 19880776 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamic Acid to Glycine
at position 60
(E60G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000089358
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000039340]
[ENSMUST00000091763]
|
| AlphaFold |
Q715T0 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000039340
AA Change: E60G
PolyPhen 2
Score 0.943 (Sensitivity: 0.80; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000047052
Gene: ENSMUSG00000041138
AA Change: E60G
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Thioredoxin
|
11 |
112 |
3.7e-12 |
PFAM |
|
Pfam:NDK
|
155 |
283 |
2.3e-14 |
PFAM |
|
NDK
|
312 |
452 |
3.8e-28 |
SMART |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000091763
AA Change: E60G
PolyPhen 2
Score 0.943 (Sensitivity: 0.80; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000089358
Gene: ENSMUSG00000041138
AA Change: E60G
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Thioredoxin
|
11 |
112 |
6.9e-12 |
PFAM |
|
Pfam:NDK
|
155 |
284 |
1.1e-13 |
PFAM |
|
NDK
|
312 |
449 |
2.75e-25 |
SMART |
|
NDK
|
450 |
586 |
1.45e-33 |
SMART |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000223286
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a protein with an N-terminal thioredoxin domain and three C-terminal nucleoside diphosphate kinase (NDK) domains, but the NDK domains are thought to be catalytically inactive. The sea urchin ortholog of this gene encodes a component of sperm outer dynein arms, and the protein is implicated in ciliary function. Mutations in this gene are implicated in primary ciliary dyskinesia type 6.[provided by RefSeq, Nov 2009]
PHENOTYPE: Homozygous mutant displays normal reproductive system phenotype [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 42 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Arap2 |
T |
C |
5: 62,761,959 (GRCm39) |
K1589R |
probably benign |
Het |
| Armc3 |
T |
C |
2: 19,240,293 (GRCm39) |
F17L |
probably damaging |
Het |
| Ccdc17 |
T |
A |
4: 116,456,626 (GRCm39) |
L465H |
probably damaging |
Het |
| Cdh9 |
A |
T |
15: 16,856,135 (GRCm39) |
D725V |
probably damaging |
Het |
| Cert1 |
T |
A |
13: 96,770,700 (GRCm39) |
D536E |
probably benign |
Het |
| Chl1 |
C |
T |
6: 103,652,058 (GRCm39) |
R309C |
probably damaging |
Het |
| Dbt |
T |
A |
3: 116,341,847 (GRCm39) |
*483K |
probably null |
Het |
| Ddx46 |
A |
G |
13: 55,785,907 (GRCm39) |
D29G |
unknown |
Het |
| Des |
T |
C |
1: 75,338,985 (GRCm39) |
I222T |
possibly damaging |
Het |
| Dnah8 |
A |
G |
17: 30,891,323 (GRCm39) |
N776S |
probably benign |
Het |
| Fbn1 |
A |
T |
2: 125,145,103 (GRCm39) |
L2712Q |
probably benign |
Het |
| Glb1l3 |
A |
C |
9: 26,729,601 (GRCm39) |
V622G |
probably damaging |
Het |
| Grin2a |
T |
C |
16: 9,487,704 (GRCm39) |
D398G |
possibly damaging |
Het |
| Itgb3 |
T |
C |
11: 104,524,293 (GRCm39) |
M143T |
probably damaging |
Het |
| Lama2 |
G |
A |
10: 27,245,047 (GRCm39) |
R245C |
probably damaging |
Het |
| Lgals9 |
G |
A |
11: 78,875,626 (GRCm39) |
A6V |
probably benign |
Het |
| Lman2l |
A |
T |
1: 36,482,628 (GRCm39) |
Y83N |
probably damaging |
Het |
| Lrp2 |
T |
A |
2: 69,256,383 (GRCm39) |
T4586S |
probably benign |
Het |
| Med10 |
T |
C |
13: 69,963,816 (GRCm39) |
|
probably benign |
Het |
| Myo18b |
A |
C |
5: 112,937,863 (GRCm39) |
L1754R |
probably damaging |
Het |
| Myom2 |
T |
C |
8: 15,172,679 (GRCm39) |
L1202S |
probably damaging |
Het |
| Nav3 |
T |
C |
10: 109,594,878 (GRCm39) |
E1441G |
probably damaging |
Het |
| Npffr2 |
G |
T |
5: 89,731,020 (GRCm39) |
A317S |
probably damaging |
Het |
| Nrxn2 |
A |
G |
19: 6,540,726 (GRCm39) |
D893G |
probably damaging |
Het |
| Nup153 |
T |
C |
13: 46,858,681 (GRCm39) |
E410G |
possibly damaging |
Het |
| Or11h7 |
T |
C |
14: 50,890,832 (GRCm39) |
I46T |
possibly damaging |
Het |
| Or7e178 |
A |
G |
9: 20,247,207 (GRCm39) |
|
probably null |
Het |
| Pcdhb10 |
A |
G |
18: 37,546,358 (GRCm39) |
D478G |
probably damaging |
Het |
| Phf13 |
T |
C |
4: 152,076,826 (GRCm39) |
D122G |
possibly damaging |
Het |
| Pkhd1 |
A |
T |
1: 20,271,243 (GRCm39) |
H3103Q |
probably benign |
Het |
| Prr11 |
A |
C |
11: 86,987,787 (GRCm39) |
|
probably null |
Het |
| Rac3 |
C |
T |
11: 120,614,092 (GRCm39) |
T118M |
possibly damaging |
Het |
| Rad54b |
T |
C |
4: 11,569,833 (GRCm39) |
S50P |
possibly damaging |
Het |
| Rp1 |
T |
C |
1: 4,419,747 (GRCm39) |
Q455R |
possibly damaging |
Het |
| Semp2l1 |
T |
A |
1: 32,584,841 (GRCm39) |
E356D |
probably benign |
Het |
| Sorl1 |
T |
C |
9: 41,944,858 (GRCm39) |
|
probably benign |
Het |
| Spink5 |
A |
T |
18: 44,147,827 (GRCm39) |
I858F |
possibly damaging |
Het |
| Stxbp5 |
A |
T |
10: 9,742,447 (GRCm39) |
|
probably null |
Het |
| Svep1 |
A |
C |
4: 58,116,532 (GRCm39) |
V906G |
probably benign |
Het |
| Tlr4 |
A |
G |
4: 66,757,990 (GRCm39) |
E261G |
probably damaging |
Het |
| Zfp704 |
C |
T |
3: 9,504,951 (GRCm39) |
|
probably benign |
Het |
| Zfyve9 |
A |
T |
4: 108,580,996 (GRCm39) |
|
probably benign |
Het |
|
| Other mutations in Nme8 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01984:Nme8
|
APN |
13 |
19,873,150 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02272:Nme8
|
APN |
13 |
19,842,996 (GRCm39) |
missense |
probably damaging |
0.99 |
|
IGL02344:Nme8
|
APN |
13 |
19,858,574 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
IGL02395:Nme8
|
APN |
13 |
19,862,078 (GRCm39) |
missense |
possibly damaging |
0.64 |
|
IGL02621:Nme8
|
APN |
13 |
19,859,818 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02645:Nme8
|
APN |
13 |
19,844,755 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02807:Nme8
|
APN |
13 |
19,860,001 (GRCm39) |
unclassified |
probably benign |
|
|
IGL03059:Nme8
|
APN |
13 |
19,836,414 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
IGL03323:Nme8
|
APN |
13 |
19,873,120 (GRCm39) |
missense |
probably benign |
0.06 |
|
R0139:Nme8
|
UTSW |
13 |
19,862,018 (GRCm39) |
missense |
probably benign |
0.19 |
|
R0616:Nme8
|
UTSW |
13 |
19,875,029 (GRCm39) |
missense |
probably benign |
0.00 |
|
R0632:Nme8
|
UTSW |
13 |
19,842,206 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R1233:Nme8
|
UTSW |
13 |
19,844,682 (GRCm39) |
missense |
possibly damaging |
0.71 |
|
R1288:Nme8
|
UTSW |
13 |
19,858,619 (GRCm39) |
missense |
possibly damaging |
0.87 |
|
R1305:Nme8
|
UTSW |
13 |
19,881,077 (GRCm39) |
missense |
possibly damaging |
0.90 |
|
R1773:Nme8
|
UTSW |
13 |
19,881,206 (GRCm39) |
start codon destroyed |
probably damaging |
1.00 |
|
R1942:Nme8
|
UTSW |
13 |
19,859,978 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1970:Nme8
|
UTSW |
13 |
19,836,492 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2012:Nme8
|
UTSW |
13 |
19,881,053 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2093:Nme8
|
UTSW |
13 |
19,835,042 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2392:Nme8
|
UTSW |
13 |
19,873,113 (GRCm39) |
critical splice donor site |
probably null |
|
|
R2436:Nme8
|
UTSW |
13 |
19,862,029 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2901:Nme8
|
UTSW |
13 |
19,859,834 (GRCm39) |
missense |
probably benign |
0.02 |
|
R2902:Nme8
|
UTSW |
13 |
19,859,834 (GRCm39) |
missense |
probably benign |
0.02 |
|
R4665:Nme8
|
UTSW |
13 |
19,858,605 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4751:Nme8
|
UTSW |
13 |
19,859,808 (GRCm39) |
critical splice donor site |
probably null |
|
|
R4785:Nme8
|
UTSW |
13 |
19,842,100 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R5101:Nme8
|
UTSW |
13 |
19,875,017 (GRCm39) |
critical splice donor site |
probably null |
|
|
R5217:Nme8
|
UTSW |
13 |
19,880,861 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5251:Nme8
|
UTSW |
13 |
19,844,795 (GRCm39) |
missense |
probably benign |
0.33 |
|
R5356:Nme8
|
UTSW |
13 |
19,836,469 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5397:Nme8
|
UTSW |
13 |
19,878,549 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5624:Nme8
|
UTSW |
13 |
19,862,038 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R6679:Nme8
|
UTSW |
13 |
19,875,140 (GRCm39) |
splice site |
probably null |
|
|
R7040:Nme8
|
UTSW |
13 |
19,878,498 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7111:Nme8
|
UTSW |
13 |
19,859,817 (GRCm39) |
missense |
probably benign |
0.06 |
|
R7185:Nme8
|
UTSW |
13 |
19,862,053 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7670:Nme8
|
UTSW |
13 |
19,842,999 (GRCm39) |
missense |
probably benign |
0.01 |
|
R7685:Nme8
|
UTSW |
13 |
19,835,145 (GRCm39) |
missense |
probably benign |
0.00 |
|
R8108:Nme8
|
UTSW |
13 |
19,835,130 (GRCm39) |
missense |
probably benign |
0.00 |
|
R8331:Nme8
|
UTSW |
13 |
19,843,036 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8413:Nme8
|
UTSW |
13 |
19,858,689 (GRCm39) |
missense |
probably benign |
0.01 |
|
R8808:Nme8
|
UTSW |
13 |
19,859,978 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9227:Nme8
|
UTSW |
13 |
19,874,384 (GRCm39) |
missense |
probably benign |
|
|
R9230:Nme8
|
UTSW |
13 |
19,874,384 (GRCm39) |
missense |
probably benign |
|
|
R9422:Nme8
|
UTSW |
13 |
19,859,918 (GRCm39) |
missense |
probably benign |
0.01 |
|
Z1088:Nme8
|
UTSW |
13 |
19,873,127 (GRCm39) |
missense |
possibly damaging |
0.82 |
|
| Posted On |
2016-08-02 |
Incidental Mutation