Incidental Mutation 'R4681:Nsun7'
ID |
350022 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Nsun7
|
Ensembl Gene |
ENSMUSG00000029206 |
Gene Name |
NOL1/NOP2/Sun domain family, member 7 |
Synonyms |
4921525L17Rik |
MMRRC Submission |
042015-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R4681 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
5 |
Chromosomal Location |
66417240-66455369 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to A
at 66418542 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Serine to Threonine
at position 91
(S91T)
|
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: S91T
PolyPhen 2
Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
|
SMART Domains |
Protein: ENSMUSP00000031109 Gene: ENSMUSG00000029206 AA Change: S91T
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 |
noncoding transcript
Transcript: ENSMUST00000127901
AA Change: N221K
|
Predicted Effect |
not run
Transcript: ENSMUST00000131585
AA Change: S14T
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000200891
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000201100
AA Change: S91T
PolyPhen 2
Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
|
SMART Domains |
Protein: ENSMUSP00000144520 Gene: ENSMUSG00000029206 AA Change: S91T
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: S91T
PolyPhen 2
Score 0.005 (Sensitivity: 0.97; Specificity: 0.74)
|
SMART Domains |
Protein: ENSMUSP00000144498 Gene: ENSMUSG00000029206 AA Change: S91T
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 |
0.1055 |
Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.5%
- 10x: 96.8%
- 20x: 94.1%
|
Validation Efficiency |
100% (59/59) |
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: 51 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Ahctf1 |
G |
T |
1: 179,580,361 (GRCm39) |
T1947K |
probably benign |
Het |
Ak9 |
A |
C |
10: 41,303,234 (GRCm39) |
K1669T |
unknown |
Het |
Atp4b |
T |
C |
8: 13,439,700 (GRCm39) |
E174G |
probably benign |
Het |
Bcl6 |
A |
G |
16: 23,787,203 (GRCm39) |
|
probably benign |
Het |
Brca2 |
C |
G |
5: 150,475,863 (GRCm39) |
|
probably null |
Het |
Btnl4 |
A |
T |
17: 34,689,075 (GRCm39) |
|
probably null |
Het |
C4a |
G |
T |
17: 35,036,075 (GRCm39) |
|
noncoding transcript |
Het |
Cab39l |
A |
G |
14: 59,737,054 (GRCm39) |
D58G |
probably benign |
Het |
Cacna2d3 |
A |
T |
14: 29,015,092 (GRCm39) |
M100K |
probably damaging |
Het |
Car2 |
T |
A |
3: 14,960,624 (GRCm39) |
Y127* |
probably null |
Het |
Cdhr1 |
T |
C |
14: 36,818,194 (GRCm39) |
N86S |
probably benign |
Het |
Celsr3 |
A |
G |
9: 108,704,953 (GRCm39) |
I479V |
possibly damaging |
Het |
Cfhr1 |
A |
T |
1: 139,478,667 (GRCm39) |
Y53* |
probably null |
Het |
Cgrrf1 |
A |
G |
14: 47,091,283 (GRCm39) |
E269G |
probably benign |
Het |
Cimap3 |
C |
A |
3: 105,905,701 (GRCm39) |
G148C |
probably damaging |
Het |
Clcn7 |
A |
T |
17: 25,376,935 (GRCm39) |
H636L |
probably damaging |
Het |
Cox10 |
T |
G |
11: 63,867,277 (GRCm39) |
T240P |
possibly damaging |
Het |
Crybg2 |
CTTCCAGAGCCATGGACCCATCTTTTCCA |
CTTCCA |
4: 133,800,029 (GRCm39) |
|
probably null |
Het |
Dbt |
A |
G |
3: 116,326,963 (GRCm39) |
D104G |
probably damaging |
Het |
F730035P03Rik |
T |
C |
7: 99,429,425 (GRCm39) |
|
noncoding transcript |
Het |
Fabp3 |
C |
T |
4: 130,206,180 (GRCm39) |
T57I |
probably benign |
Het |
Fam186b |
T |
C |
15: 99,178,771 (GRCm39) |
K185R |
probably benign |
Het |
Fat4 |
T |
C |
3: 38,941,491 (GRCm39) |
L128P |
probably damaging |
Het |
Gbf1 |
A |
T |
19: 46,268,989 (GRCm39) |
Q1381L |
probably benign |
Het |
Glp2r |
C |
T |
11: 67,621,453 (GRCm39) |
|
probably null |
Het |
Gm18025 |
A |
G |
12: 34,340,884 (GRCm39) |
S70P |
probably benign |
Het |
Gpr45 |
A |
G |
1: 43,072,068 (GRCm39) |
D237G |
probably benign |
Het |
Hectd4 |
A |
T |
5: 121,441,678 (GRCm39) |
L1213F |
possibly damaging |
Het |
Hydin |
T |
C |
8: 111,233,103 (GRCm39) |
V1734A |
possibly damaging |
Het |
Kcnh5 |
A |
T |
12: 75,054,397 (GRCm39) |
S516T |
probably benign |
Het |
Liph |
A |
C |
16: 21,802,777 (GRCm39) |
S97R |
probably benign |
Het |
Mtcl1 |
T |
C |
17: 66,756,139 (GRCm39) |
T68A |
unknown |
Het |
Or5an10 |
T |
C |
19: 12,276,413 (GRCm39) |
T28A |
probably benign |
Het |
Or6c75 |
A |
G |
10: 129,337,433 (GRCm39) |
I227V |
probably damaging |
Het |
Pcdh20 |
A |
T |
14: 88,705,052 (GRCm39) |
N749K |
probably damaging |
Het |
Pot1b |
A |
T |
17: 55,961,831 (GRCm39) |
D582E |
probably benign |
Het |
Pxdn |
T |
C |
12: 30,062,325 (GRCm39) |
I1212T |
probably benign |
Het |
Ramp1 |
T |
C |
1: 91,124,511 (GRCm39) |
V24A |
probably benign |
Het |
S100a8 |
T |
A |
3: 90,576,890 (GRCm39) |
D14E |
probably benign |
Het |
Stk31 |
A |
G |
6: 49,414,369 (GRCm39) |
D501G |
probably benign |
Het |
Tbc1d19 |
G |
A |
5: 54,029,595 (GRCm39) |
V319M |
probably damaging |
Het |
Tbcel |
G |
T |
9: 42,361,268 (GRCm39) |
H93Q |
probably damaging |
Het |
Traf3ip2 |
C |
T |
10: 39,515,256 (GRCm39) |
P345S |
possibly damaging |
Het |
Trpm8 |
A |
T |
1: 88,312,427 (GRCm39) |
I1103F |
possibly damaging |
Het |
Ttc19 |
T |
A |
11: 62,199,917 (GRCm39) |
C112* |
probably null |
Het |
Unc5c |
T |
G |
3: 141,474,374 (GRCm39) |
|
probably null |
Het |
Urb1 |
A |
T |
16: 90,601,425 (GRCm39) |
H115Q |
probably damaging |
Het |
Vmn2r15 |
T |
A |
5: 109,434,488 (GRCm39) |
I739F |
probably damaging |
Het |
Zcchc14 |
G |
T |
8: 122,335,339 (GRCm39) |
|
probably benign |
Het |
Zfp408 |
G |
A |
2: 91,476,131 (GRCm39) |
P341L |
probably damaging |
Het |
Zfp638 |
G |
A |
6: 83,958,719 (GRCm39) |
V1166M |
possibly 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 |
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 |
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'- AAACTCTTCAACCGTCGTCC -3'
(R):5'- ACACATATGTTTGAGGAGCTAGGC -3'
Sequencing Primer
(F):5'- TCTTCAACCGTCGTCCTAGAAAAAC -3'
(R):5'- GGAGCTAGGCTGCATTCCATTAATTC -3'
|
Posted On |
2015-10-08 |