Incidental Mutation 'R2996:Nsun7'
ID |
257182 |
Institutional Source |
Beutler Lab
|
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 # |
R2996 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
5 |
Chromosomal Location |
66417240-66455369 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to A
at 66452897 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Histidine to Glutamine
at position 571
(H571Q)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000144520
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000031109]
[ENSMUST00000159512]
[ENSMUST00000159786]
[ENSMUST00000160870]
[ENSMUST00000162366]
[ENSMUST00000201100]
[ENSMUST00000202994]
|
AlphaFold |
no structure available at present |
Predicted Effect |
probably benign
Transcript: ENSMUST00000031109
AA Change: H571Q
PolyPhen 2
Score 0.015 (Sensitivity: 0.96; Specificity: 0.79)
|
SMART Domains |
Protein: ENSMUSP00000031109 Gene: ENSMUSG00000029206 AA Change: H571Q
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: H571Q
PolyPhen 2
Score 0.015 (Sensitivity: 0.96; Specificity: 0.79)
|
SMART Domains |
Protein: ENSMUSP00000109349 Gene: ENSMUSG00000029206 AA Change: H571Q
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: ENSMUST00000159512
|
SMART Domains |
Protein: ENSMUSP00000124807 Gene: ENSMUSG00000029207
Domain | Start | End | E-Value | Type |
WW
|
292 |
323 |
1.06e-7 |
SMART |
PTB
|
394 |
538 |
2.87e-41 |
SMART |
PTB
|
565 |
695 |
2.5e-41 |
SMART |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000159786
|
SMART Domains |
Protein: ENSMUSP00000125211 Gene: ENSMUSG00000029207
Domain | Start | End | E-Value | Type |
WW
|
291 |
322 |
1.06e-7 |
SMART |
PTB
|
414 |
560 |
4.29e-40 |
SMART |
PTB
|
587 |
717 |
2.5e-41 |
SMART |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000160870
|
SMART Domains |
Protein: ENSMUSP00000123978 Gene: ENSMUSG00000029207
Domain | Start | End | E-Value | Type |
WW
|
291 |
322 |
1.06e-7 |
SMART |
PTB
|
393 |
537 |
2.87e-41 |
SMART |
PTB
|
564 |
694 |
2.5e-41 |
SMART |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000162366
|
SMART Domains |
Protein: ENSMUSP00000125116 Gene: ENSMUSG00000029207
Domain | Start | End | E-Value | Type |
WW
|
291 |
322 |
1.06e-7 |
SMART |
PTB
|
393 |
537 |
2.87e-41 |
SMART |
PTB
|
563 |
693 |
2.5e-41 |
SMART |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000201100
AA Change: H571Q
PolyPhen 2
Score 0.015 (Sensitivity: 0.96; Specificity: 0.79)
|
SMART Domains |
Protein: ENSMUSP00000144520 Gene: ENSMUSG00000029206 AA Change: H571Q
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 |
unknown
Transcript: ENSMUST00000202994
AA Change: H537Q
|
SMART Domains |
Protein: ENSMUSP00000144498 Gene: ENSMUSG00000029206 AA Change: H537Q
Domain | Start | End | E-Value | Type |
PDB:2B9E|A
|
205 |
479 |
5e-17 |
PDB |
low complexity region
|
509 |
521 |
N/A |
INTRINSIC |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000162955
|
Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.3%
- 20x: 95.0%
|
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: 13 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Arid5b |
C |
T |
10: 67,934,292 (GRCm39) |
G294S |
probably benign |
Het |
Arsi |
G |
A |
18: 61,049,723 (GRCm39) |
G202E |
probably benign |
Het |
F5 |
C |
A |
1: 164,010,486 (GRCm39) |
R406S |
probably damaging |
Het |
Fam43a |
A |
G |
16: 30,419,838 (GRCm39) |
T141A |
possibly damaging |
Het |
Gpsm1 |
G |
A |
2: 26,209,843 (GRCm39) |
|
probably benign |
Het |
Gtpbp3 |
G |
A |
8: 71,942,140 (GRCm39) |
G125S |
possibly damaging |
Het |
Lmbr1 |
A |
G |
5: 29,568,931 (GRCm39) |
I30T |
probably benign |
Het |
Map2k7 |
C |
A |
8: 4,293,775 (GRCm39) |
N138K |
probably benign |
Het |
Mdc1 |
TGAGGAGGAGGAGGAGGAGGAGGAGGAGG |
TGAGGAGGAGGAGGAGGAGGAGGAGG |
17: 36,158,785 (GRCm39) |
|
probably benign |
Het |
Mmab |
C |
A |
5: 114,574,555 (GRCm39) |
R184L |
probably damaging |
Het |
Pfkp |
A |
G |
13: 6,685,966 (GRCm39) |
Y23H |
probably benign |
Het |
Rptor |
T |
A |
11: 119,747,124 (GRCm39) |
V13D |
probably damaging |
Het |
Vmn1r90 |
T |
C |
7: 14,295,459 (GRCm39) |
H213R |
probably damaging |
Het |
|
Other mutations in Nsun7 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL00960:Nsun7
|
APN |
5 |
66,446,846 (GRCm39) |
missense |
probably benign |
0.00 |
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 |
|
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 |
|
|
Predicted Primers |
PCR Primer
(F):5'- TAAAATGTGCACAGCGATGG -3'
(R):5'- GGGTCGATAAAGGCTTGCTG -3'
Sequencing Primer
(F):5'- TGCACAGCGATGGTGACC -3'
(R):5'- GCTTGCTGGGCTTTCTGAC -3'
|
Posted On |
2015-01-11 |