Incidental Mutation 'R7185:Nme8'
ID |
559258 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Nme8
|
Ensembl Gene |
ENSMUSG00000041138 |
Gene Name |
NME/NM23 family member 8 |
Synonyms |
Sptrx-2, 1700056P15Rik, Txndc3 |
MMRRC Submission |
045237-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.137)
|
Stock # |
R7185 (G1)
|
Quality Score |
225.009 |
Status
|
Validated
|
Chromosome |
13 |
Chromosomal Location |
19829248-19881964 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to C
at 19862053 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Leucine to Arginine
at position 192
(L192R)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000089358
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000039340]
[ENSMUST00000091763]
[ENSMUST00000223466]
|
AlphaFold |
Q715T0 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000039340
AA Change: L192R
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000047052 Gene: ENSMUSG00000041138 AA Change: L192R
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: L192R
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000089358 Gene: ENSMUSG00000041138 AA Change: L192R
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
|
Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.7%
- 20x: 99.1%
|
Validation Efficiency |
100% (63/63) |
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: 64 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Afmid |
T |
A |
11: 117,725,599 (GRCm39) |
D95E |
possibly damaging |
Het |
Ak7 |
A |
G |
12: 105,708,535 (GRCm39) |
E330G |
probably damaging |
Het |
B3gat2 |
A |
C |
1: 23,802,272 (GRCm39) |
D186A |
probably damaging |
Het |
Baz1a |
G |
A |
12: 55,022,093 (GRCm39) |
T63M |
probably damaging |
Het |
Bhmt2 |
A |
T |
13: 93,799,779 (GRCm39) |
M219K |
probably benign |
Het |
Cd200r1 |
A |
G |
16: 44,609,975 (GRCm39) |
T65A |
probably benign |
Het |
Cdc14a |
T |
C |
3: 116,087,676 (GRCm39) |
E494G |
probably benign |
Het |
Cenpf |
A |
G |
1: 189,385,686 (GRCm39) |
L2198P |
probably damaging |
Het |
Col4a2 |
T |
A |
8: 11,449,739 (GRCm39) |
D117E |
probably damaging |
Het |
Ddr2 |
C |
A |
1: 169,814,623 (GRCm39) |
V607L |
probably damaging |
Het |
Dennd4c |
A |
G |
4: 86,729,687 (GRCm39) |
Y763C |
probably damaging |
Het |
Ecscr |
T |
A |
18: 35,849,857 (GRCm39) |
T93S |
probably benign |
Het |
Eogt |
C |
T |
6: 97,097,139 (GRCm39) |
R321H |
probably damaging |
Het |
Fam174c |
G |
A |
10: 80,008,963 (GRCm39) |
G55E |
probably damaging |
Het |
Fras1 |
T |
C |
5: 96,784,635 (GRCm39) |
S873P |
probably damaging |
Het |
Gm29735 |
ACAGCAGCAGGGCTTGCAGCAGCTGGACTGGCAGCAGCAGGGCTTGCAGCAGCTGGACTGGCAGCAGCAGGGCTTGCAGCAGCTGGACTGGCAGCAGCAGGGCTTGCAGCAGCTGGACTGGCAGCAGCAGGGCTTGCAACAGCAGGATTCGCAGCAGCAGGGCTTGCAGCAGCTGGACTGGCAGCAGCAAGGCTTGCAGCAGCTGGACTGGCAGCAGCAGGGCTTGCA |
ACAGCAGCAGGGCTTGCAGCAGCTGGACTGGCAGCAGCAGGGCTTGCAGCAGCTGGACTGGCAGCAGCAGGGCTTGCAGCAGCTGGACTGGCAGCAGCAGGGCTTGCAACAGCAGGATTCGCAGCAGCAGGGCTTGCAGCAGCTGGACTGGCAGCAGCAAGGCTTGCAGCAGCTGGACTGGCAGCAGCAGGGCTTGCA |
7: 141,710,266 (GRCm39) |
|
probably benign |
Het |
Gm8247 |
A |
G |
14: 44,823,859 (GRCm39) |
I182V |
|
Het |
Gpatch2 |
T |
C |
1: 186,958,394 (GRCm39) |
S250P |
probably damaging |
Het |
Gramd1b |
T |
C |
9: 40,244,859 (GRCm39) |
D183G |
probably benign |
Het |
Hspa5 |
T |
C |
2: 34,665,138 (GRCm39) |
V433A |
probably damaging |
Het |
Igkv8-30 |
C |
A |
6: 70,094,590 (GRCm39) |
Q4H |
probably benign |
Het |
Igkv8-30 |
T |
G |
6: 70,094,591 (GRCm39) |
Q4P |
probably damaging |
Het |
Kcnj5 |
T |
G |
9: 32,233,472 (GRCm39) |
N281T |
probably damaging |
Het |
L1td1 |
A |
G |
4: 98,624,855 (GRCm39) |
E350G |
possibly damaging |
Het |
Layn |
T |
C |
9: 50,985,173 (GRCm39) |
T128A |
possibly damaging |
Het |
Liph |
T |
C |
16: 21,814,089 (GRCm39) |
M11V |
probably benign |
Het |
Lrp1b |
C |
T |
2: 40,691,524 (GRCm39) |
|
probably null |
Het |
Mcrip1 |
A |
C |
11: 120,435,505 (GRCm39) |
|
probably null |
Het |
Myh1 |
G |
A |
11: 67,098,285 (GRCm39) |
E486K |
probably damaging |
Het |
Nav1 |
T |
C |
1: 135,398,746 (GRCm39) |
K612R |
possibly damaging |
Het |
Nek10 |
A |
G |
14: 14,846,621 (GRCm38) |
K245E |
probably benign |
Het |
Nipal1 |
T |
A |
5: 72,824,198 (GRCm39) |
S181T |
probably damaging |
Het |
Nol7 |
G |
A |
13: 43,560,307 (GRCm39) |
|
probably null |
Het |
Oas1b |
G |
A |
5: 120,955,837 (GRCm39) |
R205H |
not run |
Het |
Or13j1 |
A |
G |
4: 43,706,082 (GRCm39) |
I162T |
possibly damaging |
Het |
Or4f56 |
T |
G |
2: 111,704,167 (GRCm39) |
E11A |
possibly damaging |
Het |
Or5w15 |
A |
G |
2: 87,568,489 (GRCm39) |
Y60H |
probably damaging |
Het |
Pcdhgb6 |
T |
C |
18: 37,876,701 (GRCm39) |
S470P |
probably benign |
Het |
Pdzk1ip1 |
A |
T |
4: 114,946,305 (GRCm39) |
H55L |
possibly damaging |
Het |
Pibf1 |
T |
A |
14: 99,344,752 (GRCm39) |
M124K |
possibly damaging |
Het |
Prr36 |
C |
T |
8: 4,266,458 (GRCm39) |
G31R |
probably damaging |
Het |
Ptchd4 |
C |
A |
17: 42,814,079 (GRCm39) |
A660D |
probably damaging |
Het |
Qsox2 |
A |
G |
2: 26,110,718 (GRCm39) |
V166A |
possibly damaging |
Het |
Rb1cc1 |
A |
T |
1: 6,308,607 (GRCm39) |
Y164F |
probably damaging |
Het |
Rest |
C |
A |
5: 77,430,331 (GRCm39) |
H917N |
probably benign |
Het |
Rlig1 |
T |
C |
10: 100,425,073 (GRCm39) |
|
probably benign |
Het |
Rnf213 |
T |
C |
11: 119,315,024 (GRCm39) |
C955R |
|
Het |
Scn7a |
T |
A |
2: 66,518,139 (GRCm39) |
N1024I |
possibly damaging |
Het |
Sec11c |
T |
A |
18: 65,947,963 (GRCm39) |
D134E |
probably damaging |
Het |
Sorbs1 |
G |
C |
19: 40,365,244 (GRCm39) |
R180G |
probably benign |
Het |
Spo11 |
T |
A |
2: 172,823,985 (GRCm39) |
|
probably null |
Het |
Srd5a3 |
T |
C |
5: 76,301,419 (GRCm39) |
I216T |
probably benign |
Het |
Tcaf3 |
T |
C |
6: 42,570,864 (GRCm39) |
N296S |
probably benign |
Het |
Tepsin |
T |
C |
11: 119,984,643 (GRCm39) |
D259G |
probably damaging |
Het |
Themis |
G |
A |
10: 28,657,873 (GRCm39) |
S300N |
probably benign |
Het |
Trhr2 |
T |
A |
8: 123,087,396 (GRCm39) |
T15S |
probably benign |
Het |
Uts2r |
T |
C |
11: 121,051,706 (GRCm39) |
V190A |
probably benign |
Het |
Vmn2r77 |
A |
C |
7: 86,451,035 (GRCm39) |
D307A |
probably benign |
Het |
Xpa |
G |
T |
4: 46,183,078 (GRCm39) |
T237K |
probably benign |
Het |
Zfp1006 |
A |
T |
8: 129,946,502 (GRCm39) |
C108S |
probably benign |
Het |
Zfp335 |
A |
G |
2: 164,735,164 (GRCm39) |
|
probably null |
Het |
Zfp451 |
A |
T |
1: 33,808,974 (GRCm39) |
D962E |
probably damaging |
Het |
Zfp60 |
A |
G |
7: 27,437,830 (GRCm39) |
T46A |
probably damaging |
Het |
Zfy1 |
G |
A |
Y: 725,464 (GRCm39) |
S767L |
possibly 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 |
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'- TGTGGACATCTTCAAGACACC -3'
(R):5'- AAACCATGTGGATTTTCTTGTGGC -3'
Sequencing Primer
(F):5'- TTGGCTAGAATTACCAGTTTTCTAC -3'
(R):5'- GGATTTTCTTGTGGCCTTTACC -3'
|
Posted On |
2019-06-26 |