Incidental Mutation 'R3882:Nsun7'
| ID |
312811 |
| 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 # |
R3882 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
5 |
| Chromosomal Location |
66417240-66455369 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to A
at 66435983 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Arginine to Glutamine
at position 285
(R285Q)
|
| 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 damaging
Transcript: ENSMUST00000031109
AA Change: R285Q
PolyPhen 2
Score 0.975 (Sensitivity: 0.76; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000031109
Gene: ENSMUSG00000029206
AA Change: R285Q
| 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 damaging
Transcript: ENSMUST00000113720
AA Change: R285Q
PolyPhen 2
Score 0.975 (Sensitivity: 0.76; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000109349
Gene: ENSMUSG00000029206
AA Change: R285Q
| 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 damaging
Transcript: ENSMUST00000201100
AA Change: R285Q
PolyPhen 2
Score 0.975 (Sensitivity: 0.76; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000144520
Gene: ENSMUSG00000029206
AA Change: R285Q
| 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 damaging
Transcript: ENSMUST00000202994
AA Change: R285Q
PolyPhen 2
Score 0.985 (Sensitivity: 0.74; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000144498
Gene: ENSMUSG00000029206
AA Change: R285Q
| 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 |
0.1153 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.3%
- 20x: 95.2%
|
| Validation Efficiency |
97% (33/34) |
| 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: 35 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acy1 |
G |
T |
9: 106,312,708 (GRCm39) |
T181K |
possibly damaging |
Het |
| Adcy4 |
A |
G |
14: 56,012,003 (GRCm39) |
F581L |
probably benign |
Het |
| Amhr2 |
G |
A |
15: 102,354,333 (GRCm39) |
G48D |
probably damaging |
Het |
| Angptl4 |
G |
A |
17: 33,996,008 (GRCm39) |
P323S |
possibly damaging |
Het |
| Arhgef17 |
A |
G |
7: 100,525,661 (GRCm39) |
F1979S |
possibly damaging |
Het |
| Bltp2 |
T |
A |
11: 78,153,526 (GRCm39) |
W24R |
probably damaging |
Het |
| C2 |
T |
C |
17: 35,092,465 (GRCm39) |
T191A |
probably benign |
Het |
| Cmya5 |
T |
A |
13: 93,227,727 (GRCm39) |
T2454S |
probably benign |
Het |
| Dstn |
A |
G |
2: 143,784,107 (GRCm39) |
E150G |
probably benign |
Het |
| Dync1h1 |
G |
T |
12: 110,595,492 (GRCm39) |
V1444F |
probably benign |
Het |
| Eif3f |
T |
C |
7: 108,540,162 (GRCm39) |
V319A |
possibly damaging |
Het |
| Gpha2 |
T |
C |
19: 6,276,919 (GRCm39) |
|
probably null |
Het |
| Hps5 |
A |
G |
7: 46,421,420 (GRCm39) |
V648A |
possibly damaging |
Het |
| Jup |
A |
G |
11: 100,269,207 (GRCm39) |
V402A |
probably benign |
Het |
| Kif18a |
A |
G |
2: 109,137,319 (GRCm39) |
N517S |
probably benign |
Het |
| Kif20b |
T |
A |
19: 34,927,480 (GRCm39) |
I874N |
probably damaging |
Het |
| Lepr |
T |
A |
4: 101,672,462 (GRCm39) |
V1162E |
probably damaging |
Het |
| Man2a2 |
A |
T |
7: 80,012,063 (GRCm39) |
V698D |
possibly damaging |
Het |
| Miip |
A |
C |
4: 147,945,509 (GRCm39) |
S376A |
possibly damaging |
Het |
| Nup210l |
T |
C |
3: 90,031,517 (GRCm39) |
V281A |
probably benign |
Het |
| Paxip1 |
C |
T |
5: 27,953,837 (GRCm39) |
R953Q |
probably damaging |
Het |
| Pcdha8 |
C |
A |
18: 37,126,099 (GRCm39) |
L194I |
probably damaging |
Het |
| Pcdha8 |
A |
G |
18: 37,126,624 (GRCm39) |
I369V |
probably benign |
Het |
| Pcdhga10 |
C |
A |
18: 37,880,494 (GRCm39) |
A85E |
possibly damaging |
Het |
| Ppfibp1 |
A |
G |
6: 146,899,719 (GRCm39) |
R137G |
possibly damaging |
Het |
| Rcor1 |
C |
T |
12: 111,070,187 (GRCm39) |
A230V |
probably damaging |
Het |
| Scn3a |
T |
C |
2: 65,312,623 (GRCm39) |
M1191V |
probably benign |
Het |
| Skor2 |
A |
G |
18: 76,950,384 (GRCm39) |
D904G |
probably damaging |
Het |
| Suco |
A |
T |
1: 161,662,313 (GRCm39) |
V706E |
probably benign |
Het |
| Tex11 |
C |
A |
X: 99,977,021 (GRCm39) |
A487S |
possibly damaging |
Het |
| Vmn1r83 |
A |
T |
7: 12,055,329 (GRCm39) |
C243S |
probably damaging |
Het |
| Wdr17 |
A |
T |
8: 55,092,536 (GRCm39) |
C1083S |
possibly damaging |
Het |
| Zfp952 |
G |
T |
17: 33,220,949 (GRCm39) |
E18* |
probably null |
Het |
| Zfr |
G |
A |
15: 12,162,319 (GRCm39) |
R823H |
probably benign |
Het |
| Zscan25 |
G |
T |
5: 145,227,862 (GRCm39) |
G509C |
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 |
|
|
R2996:Nsun7
|
UTSW |
5 |
66,452,897 (GRCm39) |
missense |
probably benign |
0.01 |
|
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'- CGGGGTAAAATGAGAAAGCCTTTTG -3'
(R):5'- TTGGCGCATACTTTGACATCC -3'
Sequencing Primer
(F):5'- ACACATTTGTCAGTTATTCTTGTTGC -3'
(R):5'- GGCGCATACTTTGACATCCCATTC -3'
|
| Posted On |
2015-04-30 |
Incidental Mutation