Incidental Mutation 'R1288:Nme8'
ID |
150679 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Nme8
|
Ensembl Gene |
ENSMUSG00000041138 |
Gene Name |
NME/NM23 family member 8 |
Synonyms |
Sptrx-2, 1700056P15Rik, Txndc3 |
MMRRC Submission |
039354-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.137)
|
Stock # |
R1288 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
13 |
Chromosomal Location |
19829248-19881964 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 19858619 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Valine to Alanine
at position 73
(V73A)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000152780
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000039340]
[ENSMUST00000091763]
[ENSMUST00000223466]
|
AlphaFold |
Q715T0 |
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000039340
AA Change: V312A
PolyPhen 2
Score 0.670 (Sensitivity: 0.86; Specificity: 0.91)
|
SMART Domains |
Protein: ENSMUSP00000047052 Gene: ENSMUSG00000041138 AA Change: V312A
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: V312A
PolyPhen 2
Score 0.670 (Sensitivity: 0.86; Specificity: 0.91)
|
SMART Domains |
Protein: ENSMUSP00000089358 Gene: ENSMUSG00000041138 AA Change: V312A
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: ENSMUST00000220524
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000221343
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000223286
|
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000223466
AA Change: V73A
PolyPhen 2
Score 0.867 (Sensitivity: 0.83; Specificity: 0.93)
|
Coding Region Coverage |
- 1x: 98.9%
- 3x: 98.1%
- 10x: 95.6%
- 20x: 90.1%
|
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: 23 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Adgrd1 |
A |
T |
5: 129,206,071 (GRCm39) |
D247V |
probably damaging |
Het |
Ano5 |
A |
T |
7: 51,196,620 (GRCm39) |
S184C |
probably damaging |
Het |
Anpep |
C |
T |
7: 79,488,004 (GRCm39) |
E518K |
probably benign |
Het |
Atxn3 |
C |
T |
12: 101,908,437 (GRCm39) |
|
probably null |
Het |
BC005537 |
A |
T |
13: 24,988,883 (GRCm39) |
E54V |
probably damaging |
Het |
Ccdc150 |
A |
T |
1: 54,403,617 (GRCm39) |
E881V |
probably damaging |
Het |
Cep126 |
A |
T |
9: 8,112,182 (GRCm39) |
N130K |
probably benign |
Het |
Enoph1 |
A |
G |
5: 100,188,138 (GRCm39) |
T21A |
possibly damaging |
Het |
Fbxw28 |
A |
G |
9: 109,166,361 (GRCm39) |
I165T |
probably damaging |
Het |
Lrp12 |
A |
T |
15: 39,741,799 (GRCm39) |
N305K |
probably damaging |
Het |
Msl2 |
A |
G |
9: 100,979,308 (GRCm39) |
T561A |
probably benign |
Het |
Mup21 |
G |
T |
4: 62,068,934 (GRCm39) |
A19E |
probably benign |
Het |
Myh13 |
T |
C |
11: 67,244,544 (GRCm39) |
I1027T |
probably benign |
Het |
Nkg7 |
A |
G |
7: 43,087,086 (GRCm39) |
|
probably null |
Het |
Or2g1 |
T |
A |
17: 38,106,584 (GRCm39) |
L83Q |
probably damaging |
Het |
Or2n1e |
A |
G |
17: 38,586,114 (GRCm39) |
T151A |
probably benign |
Het |
Or52a5 |
A |
T |
7: 103,427,249 (GRCm39) |
L101Q |
possibly damaging |
Het |
Or5w12 |
G |
A |
2: 87,501,916 (GRCm39) |
A265V |
probably benign |
Het |
Or6c69c |
A |
G |
10: 129,911,154 (GRCm39) |
N292D |
probably damaging |
Het |
Rapgef3 |
C |
A |
15: 97,657,223 (GRCm39) |
S267I |
probably benign |
Het |
Trhde |
T |
A |
10: 114,637,195 (GRCm39) |
D4V |
probably benign |
Het |
Vmn1r234 |
CTT |
CTTT |
17: 21,449,513 (GRCm39) |
|
probably null |
Het |
Zfp40 |
T |
A |
17: 23,401,136 (GRCm39) |
I36L |
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 |
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 |
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 |
|
Predicted Primers |
PCR Primer
(F):5'- ACGGCTTAGACAATGCCTTGTGAA -3'
(R):5'- AGCATTCTCCTTCTGTGCCAGGTTA -3'
Sequencing Primer
(F):5'- GACAATGCCTTGTGAATTCTTCATC -3'
(R):5'- CAGACATAGCTTCTTACACCTTTAG -3'
|
Posted On |
2014-01-29 |