Incidental Mutation 'R2901:Nme8'
| ID |
261480 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Nme8
|
| Ensembl Gene |
ENSMUSG00000041138 |
| Gene Name |
NME/NM23 family member 8 |
| Synonyms |
Sptrx-2, 1700056P15Rik, Txndc3 |
| MMRRC Submission |
040489-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.137)
|
| Stock # |
R2901 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
13 |
| Chromosomal Location |
19829248-19881964 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 19859834 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Glutamic Acid
at position 23
(V23E)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000152780
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000039340]
[ENSMUST00000091763]
[ENSMUST00000223466]
|
| AlphaFold |
Q715T0 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000039340
AA Change: V262E
PolyPhen 2
Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
|
| SMART Domains |
Protein: ENSMUSP00000047052
Gene: ENSMUSG00000041138
AA Change: V262E
| 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 benign
Transcript: ENSMUST00000091763
AA Change: V262E
PolyPhen 2
Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
|
| SMART Domains |
Protein: ENSMUSP00000089358
Gene: ENSMUSG00000041138
AA Change: V262E
| 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 |
probably benign
Transcript: ENSMUST00000223466
AA Change: V23E
PolyPhen 2
Score 0.018 (Sensitivity: 0.95; Specificity: 0.80)
|
| Meta Mutation Damage Score |
0.0898 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.4%
- 20x: 95.4%
|
| Validation Efficiency |
100% (33/33) |
| 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: 30 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abhd13 |
T |
A |
8: 10,038,231 (GRCm39) |
M276K |
probably damaging |
Het |
| Angpt4 |
G |
T |
2: 151,753,259 (GRCm39) |
C3F |
unknown |
Het |
| C1qtnf1 |
A |
G |
11: 118,338,930 (GRCm39) |
|
probably null |
Het |
| Cep192 |
C |
T |
18: 68,002,512 (GRCm39) |
R2236C |
possibly damaging |
Het |
| Cep68 |
A |
G |
11: 20,190,187 (GRCm39) |
L275P |
probably damaging |
Het |
| Clvs1 |
A |
G |
4: 9,281,972 (GRCm39) |
K139E |
probably damaging |
Het |
| Col25a1 |
A |
T |
3: 130,340,040 (GRCm39) |
E351V |
probably damaging |
Het |
| Dnah7a |
A |
T |
1: 53,467,031 (GRCm39) |
L3611Q |
probably damaging |
Het |
| Fabp3 |
C |
T |
4: 130,206,180 (GRCm39) |
T57I |
probably benign |
Het |
| Gm3336 |
T |
C |
8: 71,173,275 (GRCm39) |
S96P |
possibly damaging |
Het |
| Gm9845 |
T |
A |
3: 39,412,742 (GRCm39) |
|
noncoding transcript |
Het |
| Klf12 |
G |
T |
14: 100,137,582 (GRCm39) |
F321L |
probably damaging |
Het |
| Klhl20 |
G |
T |
1: 160,937,122 (GRCm39) |
C84* |
probably null |
Het |
| Krt23 |
T |
C |
11: 99,374,797 (GRCm39) |
D260G |
probably damaging |
Het |
| Lpin1 |
T |
C |
12: 16,603,999 (GRCm39) |
K578E |
probably benign |
Het |
| Mgat4f |
T |
C |
1: 134,318,662 (GRCm39) |
L478P |
probably damaging |
Het |
| Mrc1 |
A |
G |
2: 14,333,354 (GRCm39) |
H1345R |
possibly damaging |
Het |
| Or10w1 |
C |
T |
19: 13,632,309 (GRCm39) |
P167L |
probably damaging |
Het |
| Or8g34 |
T |
A |
9: 39,373,234 (GRCm39) |
I169N |
probably damaging |
Het |
| Prf1 |
A |
T |
10: 61,136,098 (GRCm39) |
N125Y |
probably damaging |
Het |
| Ptp4a1 |
T |
C |
1: 30,982,385 (GRCm39) |
N142D |
possibly damaging |
Het |
| Simc1 |
G |
A |
13: 54,689,331 (GRCm39) |
|
probably null |
Het |
| Snai2 |
T |
C |
16: 14,523,847 (GRCm39) |
S4P |
possibly damaging |
Het |
| Ssc4d |
G |
A |
5: 135,993,517 (GRCm39) |
P113L |
possibly damaging |
Het |
| Stmn2 |
A |
G |
3: 8,606,981 (GRCm39) |
I34V |
probably benign |
Het |
| Tspoap1 |
C |
T |
11: 87,668,801 (GRCm39) |
P1358L |
probably benign |
Het |
| Ubr3 |
T |
C |
2: 69,846,536 (GRCm39) |
S1620P |
possibly damaging |
Het |
| Vps51 |
G |
A |
19: 6,126,468 (GRCm39) |
R95W |
probably damaging |
Het |
| Zup1 |
C |
T |
10: 33,803,608 (GRCm39) |
R492Q |
probably damaging |
Het |
| Zup1 |
T |
C |
10: 33,804,059 (GRCm39) |
T472A |
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 |
|
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 |
|
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'- GCAAGGAAGTTATGCCGTTTCTAAC -3'
(R):5'- GGAGCCTGAGGGAAAGTTTC -3'
Sequencing Primer
(F):5'- CTTTCTTGTCACAAACATTCAAGG -3'
(R):5'- AGCCTGAGGGAAAGTTTCTCATTTTC -3'
|
| Posted On |
2015-01-23 |
Incidental Mutation