Incidental Mutation 'IGL00960:Nsun7'
ID |
27490 |
Institutional Source |
Australian Phenomics Network
(link to record)
|
Gene Symbol |
Nsun7
|
Ensembl Gene |
ENSMUSG00000029206 |
Gene Name |
NOL1/NOP2/Sun domain family, member 7 |
Synonyms |
4921525L17Rik |
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
IGL00960
|
Quality Score |
|
Status
|
|
Chromosome |
5 |
Chromosomal Location |
66417240-66455369 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 66446846 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Tyrosine to Cysteine
at position 428
(Y428C)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000144498
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000031109]
[ENSMUST00000201100]
[ENSMUST00000202994]
|
AlphaFold |
no structure available at present |
Predicted Effect |
probably benign
Transcript: ENSMUST00000031109
AA Change: Y462C
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
SMART Domains |
Protein: ENSMUSP00000031109 Gene: ENSMUSG00000029206 AA Change: Y462C
Domain | Start | End | E-Value | Type |
Pfam:Nol1_Nop2_Fmu
|
394 |
477 |
4.2e-7 |
PFAM |
low complexity region
|
543 |
555 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000113720
AA Change: Y462C
|
SMART Domains |
Protein: ENSMUSP00000109349 Gene: ENSMUSG00000029206 AA Change: Y462C
Domain | Start | End | E-Value | Type |
Pfam:Nol1_Nop2_Fmu
|
312 |
479 |
4.4e-9 |
PFAM |
low complexity region
|
543 |
555 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000201100
AA Change: Y462C
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
SMART Domains |
Protein: ENSMUSP00000144520 Gene: ENSMUSG00000029206 AA Change: Y462C
Domain | Start | End | E-Value | Type |
Pfam:Nol1_Nop2_Fmu
|
312 |
479 |
4.3e-9 |
PFAM |
low complexity region
|
543 |
555 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000202994
AA Change: Y428C
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
SMART Domains |
Protein: ENSMUSP00000144498 Gene: ENSMUSG00000029206 AA Change: Y428C
Domain | Start | End | E-Value | Type |
PDB:2B9E|A
|
205 |
479 |
5e-17 |
PDB |
low complexity region
|
509 |
521 |
N/A |
INTRINSIC |
|
Coding Region Coverage |
|
Validation Efficiency |
|
MGI Phenotype |
FUNCTION: This gene encodes a member of the NOL1/NOP2/sun domain RNA methyltransferase family. Mice with a mutation in this gene exhibit male sterility due to impaired sperm motility. Alternative splicing of this gene results in multiple transcript variants. [provided by RefSeq, Nov 2014] PHENOTYPE: Males homozygous for an ENU-induced mutation are either infertile or subfertile. Mutant sperm exhibit poor progressive motility linked to rigidity of the flagellar midpiece and abnormal electron density patterns in the mitochondrial sheath. [provided by MGI curators]
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 29 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abcc10 |
C |
A |
17: 46,634,671 (GRCm39) |
R444L |
probably damaging |
Het |
Baiap2 |
T |
A |
11: 119,890,118 (GRCm39) |
S460T |
possibly damaging |
Het |
Cckar |
A |
G |
5: 53,858,634 (GRCm39) |
Y158H |
probably damaging |
Het |
Cdk4 |
A |
G |
10: 126,900,166 (GRCm39) |
Y21C |
probably damaging |
Het |
Entpd1 |
C |
T |
19: 40,699,714 (GRCm39) |
P42S |
probably benign |
Het |
Epha8 |
A |
T |
4: 136,679,150 (GRCm39) |
|
probably null |
Het |
Fastkd1 |
A |
T |
2: 69,524,997 (GRCm39) |
|
probably benign |
Het |
Fmnl2 |
A |
G |
2: 53,013,494 (GRCm39) |
D951G |
probably damaging |
Het |
Hnrnpm |
C |
A |
17: 33,868,876 (GRCm39) |
R517L |
probably damaging |
Het |
Kcnj5 |
T |
A |
9: 32,233,719 (GRCm39) |
T199S |
probably damaging |
Het |
Med13 |
T |
C |
11: 86,181,866 (GRCm39) |
|
probably benign |
Het |
Mycbp2 |
G |
T |
14: 103,466,820 (GRCm39) |
H1314Q |
possibly damaging |
Het |
Ncapd2 |
A |
T |
6: 125,150,811 (GRCm39) |
S795T |
probably benign |
Het |
Nf1 |
T |
C |
11: 79,335,947 (GRCm39) |
S1042P |
probably damaging |
Het |
Nlgn1 |
C |
A |
3: 25,966,861 (GRCm39) |
L197F |
probably damaging |
Het |
Or10d5j |
A |
G |
9: 39,867,455 (GRCm39) |
Y259H |
probably damaging |
Het |
Parp14 |
T |
C |
16: 35,661,589 (GRCm39) |
D1453G |
probably benign |
Het |
Pcdhb8 |
A |
T |
18: 37,489,026 (GRCm39) |
I235F |
probably benign |
Het |
Pclo |
T |
C |
5: 14,725,234 (GRCm39) |
V1364A |
unknown |
Het |
Polq |
T |
C |
16: 36,880,874 (GRCm39) |
S734P |
probably damaging |
Het |
Sco1 |
T |
C |
11: 66,954,864 (GRCm39) |
*290Q |
probably null |
Het |
Slc22a3 |
A |
T |
17: 12,644,497 (GRCm39) |
I496N |
probably damaging |
Het |
Slc5a8 |
T |
G |
10: 88,757,627 (GRCm39) |
I539S |
probably benign |
Het |
Tecta |
A |
G |
9: 42,270,376 (GRCm39) |
F1311L |
possibly damaging |
Het |
Tex261 |
A |
T |
6: 83,752,650 (GRCm39) |
I19N |
possibly damaging |
Het |
Tfr2 |
T |
C |
5: 137,569,954 (GRCm39) |
V120A |
probably benign |
Het |
Vmn2r71 |
A |
T |
7: 85,273,582 (GRCm39) |
S799C |
probably damaging |
Het |
Zar1 |
G |
A |
5: 72,734,628 (GRCm39) |
T197I |
probably damaging |
Het |
Zfa-ps |
A |
G |
10: 52,420,043 (GRCm39) |
|
noncoding transcript |
Het |
|
Other mutations in Nsun7 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL01013:Nsun7
|
APN |
5 |
66,440,944 (GRCm39) |
missense |
possibly damaging |
0.87 |
IGL01355:Nsun7
|
APN |
5 |
66,452,211 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL01768:Nsun7
|
APN |
5 |
66,436,043 (GRCm39) |
missense |
probably benign |
0.11 |
IGL01914:Nsun7
|
APN |
5 |
66,433,977 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL01990:Nsun7
|
APN |
5 |
66,418,416 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02477:Nsun7
|
APN |
5 |
66,433,992 (GRCm39) |
missense |
probably damaging |
0.99 |
R0071:Nsun7
|
UTSW |
5 |
66,421,388 (GRCm39) |
missense |
probably benign |
0.00 |
R0071:Nsun7
|
UTSW |
5 |
66,421,388 (GRCm39) |
missense |
probably benign |
0.00 |
R0079:Nsun7
|
UTSW |
5 |
66,452,856 (GRCm39) |
missense |
probably benign |
0.00 |
R0255:Nsun7
|
UTSW |
5 |
66,446,751 (GRCm39) |
splice site |
probably benign |
|
R0503:Nsun7
|
UTSW |
5 |
66,440,924 (GRCm39) |
splice site |
probably benign |
|
R0540:Nsun7
|
UTSW |
5 |
66,440,977 (GRCm39) |
missense |
probably damaging |
0.98 |
R1416:Nsun7
|
UTSW |
5 |
66,418,423 (GRCm39) |
missense |
probably damaging |
0.98 |
R1471:Nsun7
|
UTSW |
5 |
66,441,572 (GRCm39) |
missense |
probably benign |
0.00 |
R1942:Nsun7
|
UTSW |
5 |
66,441,588 (GRCm39) |
missense |
probably benign |
0.00 |
R1981:Nsun7
|
UTSW |
5 |
66,418,557 (GRCm39) |
missense |
probably damaging |
0.99 |
R2037:Nsun7
|
UTSW |
5 |
66,418,429 (GRCm39) |
missense |
probably benign |
0.06 |
R2098:Nsun7
|
UTSW |
5 |
66,441,055 (GRCm39) |
missense |
probably damaging |
0.98 |
R2226:Nsun7
|
UTSW |
5 |
66,418,562 (GRCm39) |
nonsense |
probably null |
|
R2996:Nsun7
|
UTSW |
5 |
66,452,897 (GRCm39) |
missense |
probably benign |
0.01 |
R3882:Nsun7
|
UTSW |
5 |
66,435,983 (GRCm39) |
missense |
probably damaging |
0.99 |
R4678:Nsun7
|
UTSW |
5 |
66,418,407 (GRCm39) |
missense |
probably benign |
0.00 |
R4681:Nsun7
|
UTSW |
5 |
66,418,542 (GRCm39) |
missense |
probably benign |
0.00 |
R4997:Nsun7
|
UTSW |
5 |
66,453,182 (GRCm39) |
missense |
probably benign |
0.02 |
R6108:Nsun7
|
UTSW |
5 |
66,453,142 (GRCm39) |
missense |
probably damaging |
0.99 |
R6465:Nsun7
|
UTSW |
5 |
66,452,929 (GRCm39) |
missense |
probably benign |
0.35 |
R6500:Nsun7
|
UTSW |
5 |
66,452,827 (GRCm39) |
missense |
probably benign |
0.11 |
R6746:Nsun7
|
UTSW |
5 |
66,441,080 (GRCm39) |
critical splice donor site |
probably null |
|
R6925:Nsun7
|
UTSW |
5 |
66,434,415 (GRCm39) |
missense |
probably damaging |
1.00 |
R7032:Nsun7
|
UTSW |
5 |
66,421,378 (GRCm39) |
missense |
probably benign |
0.02 |
R7084:Nsun7
|
UTSW |
5 |
66,452,764 (GRCm39) |
missense |
probably damaging |
1.00 |
R7098:Nsun7
|
UTSW |
5 |
66,418,326 (GRCm39) |
missense |
probably damaging |
0.98 |
R7216:Nsun7
|
UTSW |
5 |
66,436,000 (GRCm39) |
missense |
probably damaging |
1.00 |
R7276:Nsun7
|
UTSW |
5 |
66,434,484 (GRCm39) |
missense |
probably benign |
0.03 |
R7803:Nsun7
|
UTSW |
5 |
66,433,884 (GRCm39) |
nonsense |
probably null |
|
R8877:Nsun7
|
UTSW |
5 |
66,453,294 (GRCm39) |
nonsense |
probably null |
|
R9167:Nsun7
|
UTSW |
5 |
66,435,994 (GRCm39) |
missense |
possibly damaging |
0.95 |
R9222:Nsun7
|
UTSW |
5 |
66,418,366 (GRCm39) |
missense |
probably benign |
|
|
Posted On |
2013-04-17 |