Incidental Mutation 'R8413:Nme8'
| ID |
652800 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Nme8
|
| Ensembl Gene |
ENSMUSG00000041138 |
| Gene Name |
NME/NM23 family member 8 |
| Synonyms |
Sptrx-2, 1700056P15Rik, Txndc3 |
| MMRRC Submission |
067767-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.137)
|
| Stock # |
R8413 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
13 |
| Chromosomal Location |
19829248-19881964 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to T
at 19858689 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Asparagine
at position 289
(D289N)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000089358
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000039340]
[ENSMUST00000091763]
[ENSMUST00000223466]
|
| AlphaFold |
Q715T0 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000039340
AA Change: D289N
PolyPhen 2
Score 0.025 (Sensitivity: 0.95; Specificity: 0.81)
|
| SMART Domains |
Protein: ENSMUSP00000047052
Gene: ENSMUSG00000041138
AA Change: D289N
| 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: D289N
PolyPhen 2
Score 0.014 (Sensitivity: 0.96; Specificity: 0.79)
|
| SMART Domains |
Protein: ENSMUSP00000089358
Gene: ENSMUSG00000041138
AA Change: D289N
| 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 |
probably benign
Transcript: ENSMUST00000223466
AA Change: D50N
PolyPhen 2
Score 0.279 (Sensitivity: 0.91; Specificity: 0.88)
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.5%
- 20x: 98.4%
|
| 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: 46 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca16 |
T |
A |
7: 120,023,123 (GRCm39) |
D86E |
probably benign |
Het |
| Adamts5 |
A |
G |
16: 85,663,506 (GRCm39) |
|
probably null |
Het |
| Arhgap31 |
T |
C |
16: 38,423,283 (GRCm39) |
R928G |
possibly damaging |
Het |
| Birc6 |
T |
C |
17: 74,853,388 (GRCm39) |
V164A |
possibly damaging |
Het |
| Cdh26 |
T |
A |
2: 178,110,022 (GRCm39) |
H438Q |
probably damaging |
Het |
| Cfap65 |
T |
A |
1: 74,956,328 (GRCm39) |
K1084* |
probably null |
Het |
| Csmd1 |
T |
C |
8: 15,950,676 (GRCm39) |
H3511R |
probably damaging |
Het |
| Ebf1 |
T |
A |
11: 44,534,274 (GRCm39) |
S178T |
possibly damaging |
Het |
| Efcab3 |
A |
C |
11: 104,811,135 (GRCm39) |
K3192N |
unknown |
Het |
| Eln |
A |
G |
5: 134,755,375 (GRCm39) |
V226A |
unknown |
Het |
| Fat4 |
A |
T |
3: 39,063,128 (GRCm39) |
|
probably null |
Het |
| Gcn1 |
C |
T |
5: 115,717,698 (GRCm39) |
T222I |
probably benign |
Het |
| Gm5624 |
T |
G |
14: 44,799,347 (GRCm39) |
N70T |
|
Het |
| Gpc6 |
T |
A |
14: 118,129,761 (GRCm39) |
V387E |
possibly damaging |
Het |
| Gyg1 |
C |
T |
3: 20,179,619 (GRCm39) |
V255M |
probably damaging |
Het |
| Henmt1 |
T |
A |
3: 108,864,965 (GRCm39) |
F146I |
probably damaging |
Het |
| Itpr3 |
T |
A |
17: 27,330,900 (GRCm39) |
L1736Q |
probably damaging |
Het |
| Kcnh4 |
A |
G |
11: 100,640,619 (GRCm39) |
V469A |
possibly damaging |
Het |
| Mybpc2 |
A |
G |
7: 44,157,729 (GRCm39) |
L750P |
probably damaging |
Het |
| Naalad2 |
A |
G |
9: 18,241,939 (GRCm39) |
V655A |
probably damaging |
Het |
| Or12k5 |
T |
G |
2: 36,895,402 (GRCm39) |
T75P |
probably damaging |
Het |
| Or2t6 |
A |
G |
14: 14,175,416 (GRCm38) |
V222A |
probably benign |
Het |
| Or4c104 |
T |
A |
2: 88,587,024 (GRCm39) |
|
probably benign |
Het |
| Or4k15 |
C |
G |
14: 50,364,827 (GRCm39) |
S264R |
probably benign |
Het |
| Or5aq6 |
T |
C |
2: 86,923,502 (GRCm39) |
K80E |
probably benign |
Het |
| Or8g30 |
T |
A |
9: 39,230,401 (GRCm39) |
K170* |
probably null |
Het |
| Phf24 |
T |
A |
4: 42,937,906 (GRCm39) |
C173* |
probably null |
Het |
| Plcb2 |
A |
G |
2: 118,549,304 (GRCm39) |
F353L |
probably damaging |
Het |
| Prss33 |
C |
A |
17: 24,052,930 (GRCm39) |
W248L |
probably damaging |
Het |
| Rgs3 |
T |
G |
4: 62,544,254 (GRCm39) |
L350R |
possibly damaging |
Het |
| Samd11 |
C |
T |
4: 156,333,730 (GRCm39) |
G200D |
probably damaging |
Het |
| Sh3tc2 |
T |
A |
18: 62,123,873 (GRCm39) |
V878E |
probably damaging |
Het |
| Sh3tc2 |
G |
C |
18: 62,148,142 (GRCm39) |
G1284A |
probably benign |
Het |
| Skint5 |
A |
G |
4: 113,572,900 (GRCm39) |
S780P |
unknown |
Het |
| Slc8a3 |
T |
C |
12: 81,361,452 (GRCm39) |
K456E |
probably damaging |
Het |
| Smok2a |
T |
A |
17: 13,444,499 (GRCm39) |
H25Q |
probably benign |
Het |
| Srrt |
A |
G |
5: 137,298,589 (GRCm39) |
L225P |
possibly damaging |
Het |
| Stox1 |
C |
T |
10: 62,500,754 (GRCm39) |
R602Q |
probably damaging |
Het |
| Tmem30a |
A |
T |
9: 79,683,507 (GRCm39) |
C157S |
probably damaging |
Het |
| Tnks1bp1 |
T |
C |
2: 84,892,622 (GRCm39) |
S850P |
probably damaging |
Het |
| Trpm6 |
A |
G |
19: 18,809,849 (GRCm39) |
I1082V |
probably benign |
Het |
| Ttll5 |
T |
A |
12: 85,965,895 (GRCm39) |
N646K |
probably benign |
Het |
| Vmn1r179 |
A |
T |
7: 23,628,277 (GRCm39) |
Y156F |
probably benign |
Het |
| Vmn1r54 |
T |
A |
6: 90,246,413 (GRCm39) |
L109H |
probably damaging |
Het |
| Wdr17 |
T |
C |
8: 55,115,953 (GRCm39) |
I617V |
probably benign |
Het |
| Zeb2 |
T |
A |
2: 44,886,183 (GRCm39) |
Q958L |
probably damaging |
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 |
|
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 |
|
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'- ACGGCTTAGACAATGCCTTGTG -3'
(R):5'- CATTCAGAGTGAAGTGTGGGC -3'
Sequencing Primer
(F):5'- GGCTTAGACAATGCCTTGTGAATTC -3'
(R):5'- TGGGCAGAAAGAAGCATTGTATTATG -3'
|
| Posted On |
2020-10-20 |
Incidental Mutation