Incidental Mutation 'R7670:Nme8'
ID |
592114 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Nme8
|
Ensembl Gene |
ENSMUSG00000041138 |
Gene Name |
NME/NM23 family member 8 |
Synonyms |
Sptrx-2, 1700056P15Rik, Txndc3 |
MMRRC Submission |
045742-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.137)
|
Stock # |
R7670 (G1)
|
Quality Score |
225.009 |
Status
|
Validated
|
Chromosome |
13 |
Chromosomal Location |
19829248-19881964 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 19842999 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Glutamic Acid to Glycine
at position 392
(E392G)
|
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: E392G
PolyPhen 2
Score 0.007 (Sensitivity: 0.96; Specificity: 0.75)
|
SMART Domains |
Protein: ENSMUSP00000047052 Gene: ENSMUSG00000041138 AA Change: E392G
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: E392G
PolyPhen 2
Score 0.008 (Sensitivity: 0.96; Specificity: 0.76)
|
SMART Domains |
Protein: ENSMUSP00000089358 Gene: ENSMUSG00000041138 AA Change: E392G
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: E153G
PolyPhen 2
Score 0.087 (Sensitivity: 0.93; Specificity: 0.85)
|
Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.8%
- 20x: 99.4%
|
Validation Efficiency |
100% (62/62) |
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: 62 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Adam26a |
T |
A |
8: 44,023,190 (GRCm39) |
H100L |
probably benign |
Het |
Adgrf2 |
T |
C |
17: 43,022,263 (GRCm39) |
N187S |
probably damaging |
Het |
Adipoq |
T |
A |
16: 22,976,332 (GRCm39) |
H244Q |
probably damaging |
Het |
Arhgap40 |
T |
A |
2: 158,373,845 (GRCm39) |
S209T |
probably benign |
Het |
Arrdc3 |
C |
T |
13: 81,037,212 (GRCm39) |
L123F |
probably damaging |
Het |
Aspscr1 |
A |
G |
11: 120,579,865 (GRCm39) |
N212D |
probably benign |
Het |
Ccr9 |
A |
T |
9: 123,608,371 (GRCm39) |
S18C |
probably damaging |
Het |
Cdc42bpa |
T |
A |
1: 179,892,646 (GRCm39) |
V270D |
probably damaging |
Het |
Clic4 |
A |
G |
4: 134,944,516 (GRCm39) |
Y220H |
probably damaging |
Het |
Cntln |
A |
C |
4: 84,897,577 (GRCm39) |
H388P |
possibly damaging |
Het |
Col12a1 |
A |
G |
9: 79,538,925 (GRCm39) |
V2457A |
probably damaging |
Het |
Ctsk |
A |
G |
3: 95,408,925 (GRCm39) |
N103D |
probably benign |
Het |
Ddx60 |
T |
C |
8: 62,428,826 (GRCm39) |
S779P |
probably damaging |
Het |
Dnah5 |
T |
A |
15: 28,246,378 (GRCm39) |
|
probably null |
Het |
Dnah7b |
T |
A |
1: 46,148,462 (GRCm39) |
D279E |
probably benign |
Het |
Eif1ad10 |
T |
C |
12: 88,216,524 (GRCm39) |
N116S |
probably benign |
Het |
Fam117a |
A |
G |
11: 95,269,660 (GRCm39) |
N308S |
probably benign |
Het |
Fasn |
A |
G |
11: 120,704,245 (GRCm39) |
V1419A |
probably damaging |
Het |
Fhad1 |
A |
G |
4: 141,678,802 (GRCm39) |
S625P |
probably benign |
Het |
Gemin5 |
A |
G |
11: 58,038,754 (GRCm39) |
V585A |
probably benign |
Het |
Gm5145 |
C |
A |
17: 20,790,646 (GRCm39) |
P8Q |
probably benign |
Het |
Herc1 |
C |
A |
9: 66,323,629 (GRCm39) |
T1381K |
probably damaging |
Het |
Herc6 |
T |
C |
6: 57,637,107 (GRCm39) |
I824T |
probably damaging |
Het |
Klrb1 |
C |
T |
6: 128,687,050 (GRCm39) |
V161I |
probably benign |
Het |
Krtap31-1 |
A |
G |
11: 99,799,258 (GRCm39) |
N154D |
not run |
Het |
Lcp1 |
A |
T |
14: 75,437,871 (GRCm39) |
I94F |
probably benign |
Het |
Lin7a |
A |
T |
10: 107,218,552 (GRCm39) |
Q154L |
possibly damaging |
Het |
Lnx1 |
T |
C |
5: 74,846,351 (GRCm39) |
Y33C |
probably damaging |
Het |
Myo5b |
T |
C |
18: 74,834,517 (GRCm39) |
V859A |
probably benign |
Het |
Ncbp1 |
A |
G |
4: 46,170,015 (GRCm39) |
Q696R |
probably damaging |
Het |
Neurl1b |
C |
G |
17: 26,657,720 (GRCm39) |
H219Q |
probably benign |
Het |
Nufip1 |
CAAAACAGAAAACAGAAAAC |
CAAAACAGAAAACAGAAAACAGAAAAC |
14: 76,349,414 (GRCm39) |
|
probably null |
Het |
Nuggc |
A |
G |
14: 65,850,975 (GRCm39) |
I298V |
probably damaging |
Het |
Nup155 |
A |
C |
15: 8,183,180 (GRCm39) |
K1247Q |
probably damaging |
Het |
Or1a1 |
A |
G |
11: 74,087,033 (GRCm39) |
K235E |
probably damaging |
Het |
Or5c1 |
A |
T |
2: 37,221,771 (GRCm39) |
E4V |
probably benign |
Het |
Otud4 |
T |
A |
8: 80,382,493 (GRCm39) |
|
probably null |
Het |
Pacc1 |
A |
G |
1: 191,073,065 (GRCm39) |
N162S |
probably benign |
Het |
Pcdhb18 |
T |
C |
18: 37,624,749 (GRCm39) |
V693A |
probably damaging |
Het |
Pcnx3 |
A |
G |
19: 5,727,210 (GRCm39) |
F1108L |
probably benign |
Het |
Prkca |
A |
T |
11: 107,905,170 (GRCm39) |
N189K |
probably damaging |
Het |
Rbm24 |
A |
G |
13: 46,582,683 (GRCm39) |
I201V |
probably benign |
Het |
Reep6 |
T |
C |
10: 80,169,627 (GRCm39) |
L105P |
probably damaging |
Het |
Retreg1 |
T |
C |
15: 25,941,126 (GRCm39) |
|
probably benign |
Het |
Rev3l |
C |
T |
10: 39,712,718 (GRCm39) |
T2382I |
probably benign |
Het |
Rnf31 |
A |
G |
14: 55,831,818 (GRCm39) |
N230S |
probably benign |
Het |
Rreb1 |
T |
C |
13: 38,115,548 (GRCm39) |
L969P |
probably benign |
Het |
Rsph4a |
T |
A |
10: 33,785,029 (GRCm39) |
N313K |
probably damaging |
Het |
Serpina3f |
T |
A |
12: 104,183,525 (GRCm39) |
L129Q |
probably damaging |
Het |
Slc9a2 |
T |
A |
1: 40,758,157 (GRCm39) |
V232D |
probably damaging |
Het |
Stmn2 |
T |
C |
3: 8,619,925 (GRCm39) |
L121P |
probably damaging |
Het |
Svep1 |
C |
T |
4: 58,097,424 (GRCm39) |
G1373D |
probably damaging |
Het |
Tex55 |
C |
T |
16: 38,648,453 (GRCm39) |
D219N |
possibly damaging |
Het |
Tns1 |
C |
A |
1: 73,991,636 (GRCm39) |
R1014L |
possibly damaging |
Het |
Top2b |
T |
C |
14: 16,416,620 (GRCm38) |
S1127P |
possibly damaging |
Het |
Txndc16 |
A |
T |
14: 45,373,324 (GRCm39) |
C768* |
probably null |
Het |
Ubl7 |
A |
T |
9: 57,837,052 (GRCm39) |
E354D |
probably benign |
Het |
Ush2a |
T |
C |
1: 188,516,905 (GRCm39) |
L3205P |
possibly damaging |
Het |
Xirp2 |
A |
G |
2: 67,340,917 (GRCm39) |
T1053A |
possibly damaging |
Het |
Zbtb21 |
A |
G |
16: 97,753,077 (GRCm39) |
L402P |
probably damaging |
Het |
Zfp27 |
T |
A |
7: 29,594,221 (GRCm39) |
K581N |
possibly damaging |
Het |
Zfp62 |
A |
T |
11: 49,105,903 (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 |
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 |
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'- TGCTTTCCCAAGAAGCCATC -3'
(R):5'- TCCTGGCATTTGGGACTTTC -3'
Sequencing Primer
(F):5'- AGAAGCCATCTCAAACTGAAATTG -3'
(R):5'- GGACTTTCTGGTGGCTTCCC -3'
|
Posted On |
2019-11-12 |