Incidental Mutation 'R0079:Nsun7'
| ID |
19601 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Nsun7
|
| Ensembl Gene |
ENSMUSG00000029206 |
| Gene Name |
NOL1/NOP2/Sun domain family, member 7 |
| Synonyms |
4921525L17Rik |
| MMRRC Submission |
038366-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R0079 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
5 |
| Chromosomal Location |
66417240-66455369 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to T
at 66452856 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Proline to Serine
at position 558
(P558S)
|
| 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: P558S
PolyPhen 2
Score 0.005 (Sensitivity: 0.97; Specificity: 0.74)
|
| SMART Domains |
Protein: ENSMUSP00000031109
Gene: ENSMUSG00000029206
AA Change: P558S
| 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: P558S
PolyPhen 2
Score 0.004 (Sensitivity: 0.98; Specificity: 0.59)
|
| SMART Domains |
Protein: ENSMUSP00000109349
Gene: ENSMUSG00000029206
AA Change: P558S
| 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 |
noncoding transcript
Transcript: ENSMUST00000162955
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000201100
AA Change: P558S
PolyPhen 2
Score 0.005 (Sensitivity: 0.97; Specificity: 0.74)
|
| SMART Domains |
Protein: ENSMUSP00000144520
Gene: ENSMUSG00000029206
AA Change: P558S
| 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: P524S
PolyPhen 2
Score 0.004 (Sensitivity: 0.98; Specificity: 0.59)
|
| SMART Domains |
Protein: ENSMUSP00000144498
Gene: ENSMUSG00000029206
AA Change: P524S
| Domain | Start | End | E-Value | Type |
|---|
|
PDB:2B9E|A
|
205 |
479 |
5e-17 |
PDB |
|
low complexity region
|
509 |
521 |
N/A |
INTRINSIC |
|
| Meta Mutation Damage Score |
0.0898 |
| Coding Region Coverage |
- 1x: 98.8%
- 3x: 97.8%
- 10x: 95.4%
- 20x: 90.7%
|
| Validation Efficiency |
78% (155/199) |
| 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: 61 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 2410004P03Rik |
T |
A |
12: 17,057,183 (GRCm39) |
T105S |
possibly damaging |
Het |
| Abca13 |
G |
A |
11: 9,243,493 (GRCm39) |
M1785I |
probably benign |
Het |
| Adamts3 |
G |
C |
5: 89,840,912 (GRCm39) |
P804A |
probably benign |
Het |
| Ahrr |
G |
A |
13: 74,431,143 (GRCm39) |
|
probably benign |
Het |
| Ank2 |
G |
T |
3: 126,728,264 (GRCm39) |
D776E |
probably benign |
Het |
| Cep152 |
T |
A |
2: 125,460,373 (GRCm39) |
K193M |
possibly damaging |
Het |
| Cep55 |
C |
T |
19: 38,048,769 (GRCm39) |
L142F |
probably benign |
Het |
| Chd5 |
A |
G |
4: 152,470,206 (GRCm39) |
Y1884C |
probably damaging |
Het |
| Clasp1 |
T |
C |
1: 118,471,034 (GRCm39) |
L890P |
probably damaging |
Het |
| Cul9 |
C |
A |
17: 46,848,589 (GRCm39) |
E716* |
probably null |
Het |
| Cytip |
T |
A |
2: 58,050,006 (GRCm39) |
D21V |
probably benign |
Het |
| Denr |
T |
G |
5: 124,062,908 (GRCm39) |
F137C |
probably damaging |
Het |
| Dhrs3 |
A |
T |
4: 144,646,618 (GRCm39) |
S197C |
probably damaging |
Het |
| Egr4 |
A |
T |
6: 85,489,751 (GRCm39) |
M103K |
probably damaging |
Het |
| Eif4enif1 |
C |
T |
11: 3,192,676 (GRCm39) |
Q835* |
probably null |
Het |
| Gckr |
A |
G |
5: 31,463,883 (GRCm39) |
I268V |
probably benign |
Het |
| Glt6d1 |
C |
A |
2: 25,684,739 (GRCm39) |
|
probably null |
Het |
| Hpd |
T |
C |
5: 123,319,544 (GRCm39) |
Y8C |
probably damaging |
Het |
| Il12rb2 |
A |
T |
6: 67,338,889 (GRCm39) |
F16I |
probably benign |
Het |
| Ildr2 |
A |
T |
1: 166,135,289 (GRCm39) |
Y347F |
probably damaging |
Het |
| Kcnv1 |
T |
C |
15: 44,976,729 (GRCm39) |
D186G |
probably damaging |
Het |
| Khdrbs2 |
A |
G |
1: 32,558,996 (GRCm39) |
|
probably null |
Het |
| L1cam |
G |
T |
X: 72,913,364 (GRCm39) |
P16H |
probably damaging |
Het |
| Lyn |
A |
G |
4: 3,746,768 (GRCm39) |
H161R |
probably damaging |
Het |
| Mctp2 |
T |
A |
7: 71,863,864 (GRCm39) |
|
probably benign |
Het |
| Miox |
C |
T |
15: 89,220,477 (GRCm39) |
L189F |
possibly damaging |
Het |
| Mitf |
A |
C |
6: 97,973,401 (GRCm39) |
M220L |
probably benign |
Het |
| Mrpl21 |
T |
C |
19: 3,334,807 (GRCm39) |
Y50H |
possibly damaging |
Het |
| Myh1 |
T |
A |
11: 67,104,237 (GRCm39) |
L968Q |
probably damaging |
Het |
| Myo3b |
A |
G |
2: 69,925,502 (GRCm39) |
K18E |
possibly damaging |
Het |
| Ncoa6 |
TGC |
TGCGC |
2: 155,250,211 (GRCm39) |
|
probably null |
Het |
| Nlrp2 |
T |
A |
7: 5,330,729 (GRCm39) |
T556S |
possibly damaging |
Het |
| Nsmf |
T |
C |
2: 24,949,096 (GRCm39) |
|
probably benign |
Het |
| Or10h5 |
G |
A |
17: 33,435,079 (GRCm39) |
R80C |
probably benign |
Het |
| Or1e34 |
T |
G |
11: 73,778,563 (GRCm39) |
I212L |
probably benign |
Het |
| Or56a3 |
T |
C |
7: 104,735,135 (GRCm39) |
S71P |
probably damaging |
Het |
| Or5d40 |
A |
T |
2: 88,015,698 (GRCm39) |
Y159F |
possibly damaging |
Het |
| Phf19 |
T |
C |
2: 34,785,966 (GRCm39) |
N501S |
probably benign |
Het |
| Ranbp17 |
A |
C |
11: 33,450,682 (GRCm39) |
I85S |
probably damaging |
Het |
| Robo1 |
A |
G |
16: 72,730,230 (GRCm39) |
|
probably benign |
Het |
| Sntg1 |
A |
G |
1: 8,749,286 (GRCm39) |
|
probably benign |
Het |
| Snx15 |
A |
G |
19: 6,173,943 (GRCm39) |
L58P |
probably damaging |
Het |
| Spink5 |
G |
T |
18: 44,110,831 (GRCm39) |
C134F |
probably damaging |
Het |
| Strip2 |
T |
C |
6: 29,920,532 (GRCm39) |
|
probably null |
Het |
| Taf1d |
C |
T |
9: 15,221,240 (GRCm39) |
A182V |
probably benign |
Het |
| Tenm3 |
A |
G |
8: 48,796,380 (GRCm39) |
V475A |
possibly damaging |
Het |
| Tent4b |
T |
A |
8: 88,926,631 (GRCm39) |
Y14N |
possibly damaging |
Het |
| Tgds |
A |
T |
14: 118,353,647 (GRCm39) |
H223Q |
possibly damaging |
Het |
| Thoc2 |
G |
T |
X: 40,952,985 (GRCm39) |
S230Y |
probably benign |
Het |
| Tm9sf4 |
T |
A |
2: 153,033,065 (GRCm39) |
V290E |
probably damaging |
Het |
| Trak2 |
A |
T |
1: 58,965,883 (GRCm39) |
L97Q |
probably damaging |
Het |
| Trnau1ap |
A |
G |
4: 132,041,656 (GRCm39) |
Y145H |
probably damaging |
Het |
| Vars2 |
A |
T |
17: 35,970,048 (GRCm39) |
D780E |
probably damaging |
Het |
| Vmn1r170 |
T |
A |
7: 23,305,735 (GRCm39) |
S46T |
possibly damaging |
Het |
| Vmn1r20 |
A |
T |
6: 57,408,777 (GRCm39) |
R34S |
possibly damaging |
Het |
| Vmn1r28 |
G |
A |
6: 58,242,702 (GRCm39) |
A182T |
probably benign |
Het |
| Wdr64 |
T |
C |
1: 175,622,668 (GRCm39) |
M805T |
probably benign |
Het |
| Xdh |
G |
A |
17: 74,198,213 (GRCm39) |
R1225C |
probably damaging |
Het |
| Zfp341 |
T |
A |
2: 154,466,914 (GRCm39) |
Y94* |
probably null |
Het |
| Zfp641 |
T |
C |
15: 98,186,970 (GRCm39) |
N218D |
probably benign |
Het |
| Zscan22 |
T |
C |
7: 12,638,014 (GRCm39) |
|
probably null |
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 |
|
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 |
|
|
| Predicted Primers |
PCR Primer
(F):5'- ACGCGGTCTGTAAATGGGGAAC -3'
(R):5'- GCTTGAGACACAGTCTTTGCTGGG -3'
Sequencing Primer
(F):5'- GGAGCTAGGGCCTAAAAATCATTTAC -3'
(R):5'- TCTTTGCTGGGGCGGAC -3'
|
| Posted On |
2013-04-11 |
Incidental Mutation