Incidental Mutation 'R0503:Nsun7'
| ID |
47246 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Nsun7
|
| Ensembl Gene |
ENSMUSG00000029206 |
| Gene Name |
NOL1/NOP2/Sun domain family, member 7 |
| Synonyms |
4921525L17Rik |
| MMRRC Submission |
038698-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R0503 (G1)
|
| Quality Score |
172 |
|
Status
|
Validated
|
| Chromosome |
5 |
| Chromosomal Location |
66417240-66455369 bp(+) (GRCm39) |
| Type of Mutation |
splice site |
| DNA Base Change (assembly) |
T to A
at 66440924 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| 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
|
| SMART Domains |
Protein: ENSMUSP00000031109
Gene: ENSMUSG00000029206
| 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
|
| SMART Domains |
Protein: ENSMUSP00000109349
Gene: ENSMUSG00000029206
| 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
|
| SMART Domains |
Protein: ENSMUSP00000144520
Gene: ENSMUSG00000029206
| 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
|
| SMART Domains |
Protein: ENSMUSP00000144498
Gene: ENSMUSG00000029206
| 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: 99.2%
- 3x: 98.6%
- 10x: 97.0%
- 20x: 94.7%
|
| Validation Efficiency |
98% (57/58) |
| 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: 56 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 9930111J21Rik1 |
T |
C |
11: 48,838,322 (GRCm39) |
H755R |
possibly damaging |
Het |
| Atp2c2 |
A |
G |
8: 120,461,316 (GRCm39) |
E279G |
probably null |
Het |
| Ccdc65 |
G |
T |
15: 98,607,041 (GRCm39) |
D83Y |
probably damaging |
Het |
| Cd200r2 |
T |
A |
16: 44,698,325 (GRCm39) |
M1K |
probably null |
Het |
| Clca4c-ps |
A |
T |
3: 144,585,583 (GRCm39) |
|
noncoding transcript |
Het |
| Col6a6 |
A |
T |
9: 105,644,550 (GRCm39) |
M1246K |
probably benign |
Het |
| Comp |
A |
T |
8: 70,828,384 (GRCm39) |
N130I |
possibly damaging |
Het |
| Crot |
A |
G |
5: 9,026,075 (GRCm39) |
V304A |
possibly damaging |
Het |
| Dapk1 |
T |
A |
13: 60,878,662 (GRCm39) |
|
probably null |
Het |
| Dspp |
A |
T |
5: 104,325,122 (GRCm39) |
D495V |
unknown |
Het |
| Erich2 |
A |
T |
2: 70,340,043 (GRCm39) |
R169S |
probably damaging |
Het |
| Erich2 |
C |
A |
2: 70,371,119 (GRCm39) |
S426R |
unknown |
Het |
| Gab1 |
C |
T |
8: 81,526,771 (GRCm39) |
R109H |
probably damaging |
Het |
| Ggcx |
GTCTAT |
GTCTATCTAT |
6: 72,406,140 (GRCm39) |
|
probably null |
Het |
| Gria1 |
T |
G |
11: 57,080,542 (GRCm39) |
V175G |
probably damaging |
Het |
| Hmcn1 |
C |
T |
1: 150,735,003 (GRCm39) |
V170M |
probably damaging |
Het |
| Irx4 |
T |
A |
13: 73,414,703 (GRCm39) |
|
probably null |
Het |
| Katnb1 |
A |
G |
8: 95,821,802 (GRCm39) |
T212A |
probably damaging |
Het |
| Kirrel1 |
A |
G |
3: 87,005,109 (GRCm39) |
S80P |
probably benign |
Het |
| Lrrc75b |
T |
C |
10: 75,389,488 (GRCm39) |
T81A |
possibly damaging |
Het |
| Macf1 |
A |
G |
4: 123,363,608 (GRCm39) |
S1775P |
probably damaging |
Het |
| Mmp10 |
A |
T |
9: 7,507,340 (GRCm39) |
I387F |
probably damaging |
Het |
| Mphosph10 |
A |
T |
7: 64,039,641 (GRCm39) |
C110S |
probably benign |
Het |
| Mpig6b |
A |
G |
17: 35,283,424 (GRCm39) |
|
probably benign |
Het |
| Mrps27 |
G |
T |
13: 99,546,303 (GRCm39) |
|
probably benign |
Het |
| Muc6 |
G |
T |
7: 141,218,685 (GRCm39) |
T1996N |
possibly damaging |
Het |
| Mybpc2 |
A |
G |
7: 44,161,994 (GRCm39) |
|
probably benign |
Het |
| Nbea |
C |
T |
3: 55,550,257 (GRCm39) |
G2724S |
possibly damaging |
Het |
| Nck2 |
A |
G |
1: 43,572,728 (GRCm39) |
M1V |
probably null |
Het |
| Nefl |
T |
A |
14: 68,321,432 (GRCm39) |
D7E |
probably benign |
Het |
| Nktr |
T |
A |
9: 121,579,806 (GRCm39) |
|
probably benign |
Het |
| Nlrp12 |
C |
T |
7: 3,298,007 (GRCm39) |
E55K |
probably damaging |
Het |
| Or10d4c |
A |
G |
9: 39,558,772 (GRCm39) |
Y250C |
probably damaging |
Het |
| Or4c109 |
C |
T |
2: 88,818,322 (GRCm39) |
V75I |
probably benign |
Het |
| Or4k5 |
T |
A |
14: 50,385,935 (GRCm39) |
Y132F |
probably damaging |
Het |
| Or51a5 |
A |
T |
7: 102,771,643 (GRCm39) |
M112K |
possibly damaging |
Het |
| Or6c2b |
T |
C |
10: 128,947,671 (GRCm39) |
T208A |
probably damaging |
Het |
| Or6f2 |
T |
C |
7: 139,756,354 (GRCm39) |
V113A |
possibly damaging |
Het |
| Pcdh15 |
A |
G |
10: 74,046,217 (GRCm39) |
T165A |
probably damaging |
Het |
| Pikfyve |
A |
T |
1: 65,259,058 (GRCm39) |
H410L |
probably damaging |
Het |
| Polr3c |
A |
T |
3: 96,620,952 (GRCm39) |
|
probably null |
Het |
| Ptdss2 |
T |
A |
7: 140,731,710 (GRCm39) |
|
probably benign |
Het |
| Ptprg |
A |
G |
14: 12,237,138 (GRCm38) |
M1386V |
possibly damaging |
Het |
| Ptpru |
T |
C |
4: 131,520,954 (GRCm39) |
N784S |
probably benign |
Het |
| Rfx4 |
T |
A |
10: 84,730,196 (GRCm39) |
I495K |
possibly damaging |
Het |
| Serpina12 |
C |
A |
12: 103,997,418 (GRCm39) |
A368S |
probably damaging |
Het |
| Tmem39b |
A |
C |
4: 129,580,779 (GRCm39) |
Y238D |
possibly damaging |
Het |
| Tspan11 |
T |
C |
6: 127,916,075 (GRCm39) |
W124R |
probably benign |
Het |
| Ttll10 |
T |
C |
4: 156,132,005 (GRCm39) |
|
probably benign |
Het |
| Tyro3 |
T |
C |
2: 119,633,711 (GRCm39) |
|
probably benign |
Het |
| Unc79 |
A |
G |
12: 103,045,127 (GRCm39) |
M644V |
probably benign |
Het |
| Vmn1r196 |
G |
A |
13: 22,477,557 (GRCm39) |
M65I |
probably benign |
Het |
| Vmn2r85 |
T |
C |
10: 130,258,609 (GRCm39) |
Y482C |
probably damaging |
Het |
| Zfp940 |
A |
G |
7: 29,545,445 (GRCm39) |
|
probably benign |
Het |
| Zfyve9 |
A |
T |
4: 108,576,961 (GRCm39) |
L40* |
probably null |
Het |
| Zkscan1 |
T |
A |
5: 138,091,588 (GRCm39) |
I107N |
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 |
|
|
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'- CCACCCCTTAATGAGCAGTCAGGATAAA -3'
(R):5'- CCAATGAATACAAGCAGTCCAAAGAGGA -3'
Sequencing Primer
(F):5'- cacacacacacacacacac -3'
(R):5'- TGAGTTTCATGATTAACTTCACGAG -3'
|
| Posted On |
2013-06-12 |
Incidental Mutation