Incidental Mutation 'IGL02645:Nme8'
ID |
301916 |
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 # |
IGL02645
|
Quality Score |
|
Status
|
|
Chromosome |
13 |
Chromosomal Location |
19829248-19881964 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to A
at 19844755 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Leucine to Phenylalanine
at position 111
(L111F)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000152780
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000039340]
[ENSMUST00000091763]
[ENSMUST00000223466]
|
AlphaFold |
Q715T0 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000039340
AA Change: L350F
PolyPhen 2
Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)
|
SMART Domains |
Protein: ENSMUSP00000047052 Gene: ENSMUSG00000041138 AA Change: L350F
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 |
probably damaging
Transcript: ENSMUST00000091763
AA Change: L350F
PolyPhen 2
Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)
|
SMART Domains |
Protein: ENSMUSP00000089358 Gene: ENSMUSG00000041138 AA Change: L350F
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: ENSMUST00000144820
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000221343
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000223286
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000223466
AA Change: L111F
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
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: 39 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Ang4 |
T |
C |
14: 52,001,804 (GRCm39) |
Y48C |
probably damaging |
Het |
Aox1 |
T |
A |
1: 58,373,883 (GRCm39) |
M848K |
probably damaging |
Het |
Apol7c |
A |
T |
15: 77,413,083 (GRCm39) |
S56T |
probably benign |
Het |
Asic4 |
G |
A |
1: 75,449,998 (GRCm39) |
|
probably benign |
Het |
Asxl1 |
A |
G |
2: 153,234,777 (GRCm39) |
K162R |
possibly damaging |
Het |
Car12 |
T |
A |
9: 66,654,961 (GRCm39) |
H130Q |
probably benign |
Het |
Cars1 |
T |
C |
7: 143,111,646 (GRCm39) |
E737G |
probably damaging |
Het |
Ccdc141 |
G |
A |
2: 76,905,211 (GRCm39) |
R412* |
probably null |
Het |
Cd36 |
T |
C |
5: 17,990,878 (GRCm39) |
T421A |
probably benign |
Het |
Clasp2 |
T |
G |
9: 113,719,129 (GRCm39) |
M758R |
probably damaging |
Het |
Dock10 |
T |
A |
1: 80,551,840 (GRCm39) |
Y665F |
probably damaging |
Het |
Ebf4 |
A |
G |
2: 130,203,761 (GRCm39) |
K471E |
probably damaging |
Het |
Fat2 |
T |
A |
11: 55,173,654 (GRCm39) |
D2353V |
probably damaging |
Het |
Gm10136 |
A |
G |
19: 28,981,140 (GRCm39) |
|
probably benign |
Het |
Intu |
A |
G |
3: 40,655,702 (GRCm39) |
I930V |
probably benign |
Het |
Ndrg2 |
T |
A |
14: 52,143,979 (GRCm39) |
M300L |
possibly damaging |
Het |
Nhs |
A |
G |
X: 160,942,054 (GRCm39) |
S111P |
probably benign |
Het |
Nol8 |
T |
A |
13: 49,818,947 (GRCm39) |
|
probably null |
Het |
Or10g1b |
T |
A |
14: 52,627,958 (GRCm39) |
T91S |
possibly damaging |
Het |
Or12e13 |
C |
T |
2: 87,663,959 (GRCm39) |
T192M |
probably benign |
Het |
Or4a76 |
T |
C |
2: 89,460,679 (GRCm39) |
T188A |
probably benign |
Het |
Or4c116 |
T |
C |
2: 88,941,963 (GRCm39) |
R298G |
probably benign |
Het |
Pcdhac2 |
G |
A |
18: 37,278,292 (GRCm39) |
G424D |
probably damaging |
Het |
Pex3 |
T |
G |
10: 13,422,173 (GRCm39) |
E42D |
possibly damaging |
Het |
Plxnb1 |
C |
T |
9: 108,943,311 (GRCm39) |
|
probably benign |
Het |
Rpe65 |
T |
A |
3: 159,312,128 (GRCm39) |
I209N |
probably damaging |
Het |
Rsl1 |
T |
A |
13: 67,330,273 (GRCm39) |
F240L |
probably benign |
Het |
Rttn |
A |
T |
18: 89,128,810 (GRCm39) |
I1921F |
probably benign |
Het |
Scn3a |
A |
T |
2: 65,344,871 (GRCm39) |
F539Y |
probably benign |
Het |
Secisbp2 |
T |
A |
13: 51,836,496 (GRCm39) |
M767K |
probably damaging |
Het |
Sipa1l3 |
C |
T |
7: 29,028,405 (GRCm39) |
|
probably null |
Het |
Slfn8 |
T |
C |
11: 82,894,380 (GRCm39) |
N753S |
possibly damaging |
Het |
Spmip6 |
A |
G |
4: 41,517,080 (GRCm39) |
V28A |
probably damaging |
Het |
Sympk |
T |
G |
7: 18,786,349 (GRCm39) |
V984G |
probably damaging |
Het |
Tacr3 |
A |
T |
3: 134,566,943 (GRCm39) |
D272V |
possibly damaging |
Het |
Timd6 |
A |
G |
11: 46,477,047 (GRCm39) |
R167G |
probably benign |
Het |
Tnpo3 |
G |
T |
6: 29,562,899 (GRCm39) |
S606* |
probably null |
Het |
Zfp804a |
T |
C |
2: 81,884,220 (GRCm39) |
L29P |
possibly damaging |
Het |
Zfp94 |
C |
T |
7: 24,003,179 (GRCm39) |
G88R |
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 |
IGL02807:Nme8
|
APN |
13 |
19,860,001 (GRCm39) |
unclassified |
probably benign |
|
IGL03059:Nme8
|
APN |
13 |
19,836,414 (GRCm39) |
missense |
possibly damaging |
0.92 |
IGL03288:Nme8
|
APN |
13 |
19,880,776 (GRCm39) |
missense |
possibly damaging |
0.94 |
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 |
2015-04-16 |