Incidental Mutation 'IGL01355:Nsun7'
| ID |
75495 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| 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 # |
IGL01355
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
5 |
| Chromosomal Location |
66259897-66298026 bp(+) (GRCm38) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 66294868 bp (GRCm38)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Proline
at position 466
(S466P)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000144498
(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 damaging
Transcript: ENSMUST00000031109
AA Change: S500P
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000031109
Gene: ENSMUSG00000029206
AA Change: S500P
| 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: S500P
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000109349
Gene: ENSMUSG00000029206
AA Change: S500P
| 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 damaging
Transcript: ENSMUST00000201100
AA Change: S500P
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000144520
Gene: ENSMUSG00000029206
AA Change: S500P
| 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: S466P
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000144498
Gene: ENSMUSG00000029206
AA Change: S466P
| Domain | Start | End | E-Value | Type |
|---|
|
PDB:2B9E|A
|
205 |
479 |
5e-17 |
PDB |
|
low complexity region
|
509 |
521 |
N/A |
INTRINSIC |
|
| Coding Region Coverage |
|
| 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: 25 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Ajap1 |
C |
T |
4: 153,386,481 |
V290I |
probably damaging |
Het |
| Ankrd12 |
A |
G |
17: 65,970,340 |
|
probably benign |
Het |
| Anxa4 |
A |
T |
6: 86,752,205 |
I140N |
probably damaging |
Het |
| Asap2 |
A |
G |
12: 21,218,086 |
|
probably benign |
Het |
| Cd36 |
C |
T |
5: 17,813,074 |
V214I |
possibly damaging |
Het |
| Col24a1 |
T |
C |
3: 145,314,876 |
L336S |
probably benign |
Het |
| Dcc |
C |
T |
18: 71,809,114 |
V311I |
probably benign |
Het |
| Gpr146 |
A |
T |
5: 139,378,904 |
|
probably benign |
Het |
| Irf1 |
T |
C |
11: 53,774,361 |
V188A |
probably benign |
Het |
| Limk1 |
G |
A |
5: 134,657,900 |
|
probably benign |
Het |
| Mcidas |
T |
C |
13: 112,999,069 |
F342S |
probably damaging |
Het |
| Mctp1 |
A |
G |
13: 76,384,955 |
T141A |
probably benign |
Het |
| Mnd1 |
C |
A |
3: 84,116,477 |
A101S |
probably benign |
Het |
| Olfr1279 |
T |
A |
2: 111,307,093 |
I296K |
probably benign |
Het |
| Olfr165 |
C |
T |
16: 19,407,583 |
M145I |
probably benign |
Het |
| Olfr617 |
A |
G |
7: 103,584,373 |
E117G |
probably damaging |
Het |
| Pik3c2g |
G |
T |
6: 139,852,857 |
G371V |
probably damaging |
Het |
| Sdad1 |
A |
G |
5: 92,302,679 |
V199A |
probably damaging |
Het |
| Spg11 |
C |
T |
2: 122,113,156 |
V172I |
probably benign |
Het |
| Tas2r108 |
A |
G |
6: 40,493,751 |
T54A |
possibly damaging |
Het |
| Tmem121b |
A |
G |
6: 120,492,466 |
L430P |
probably damaging |
Het |
| Traf3ip1 |
A |
G |
1: 91,518,297 |
D384G |
probably damaging |
Het |
| Trank1 |
A |
G |
9: 111,365,520 |
T871A |
possibly damaging |
Het |
| Vegfa |
T |
C |
17: 46,025,421 |
M258V |
possibly damaging |
Het |
| Zbtb49 |
A |
G |
5: 38,210,616 |
|
probably null |
Het |
|
| Other mutations in Nsun7 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00960:Nsun7
|
APN |
5 |
66289503 |
missense |
probably benign |
0.00 |
|
IGL01013:Nsun7
|
APN |
5 |
66283601 |
missense |
possibly damaging |
0.87 |
|
IGL01768:Nsun7
|
APN |
5 |
66278700 |
missense |
probably benign |
0.11 |
|
IGL01914:Nsun7
|
APN |
5 |
66276634 |
missense |
probably damaging |
1.00 |
|
IGL01990:Nsun7
|
APN |
5 |
66261073 |
missense |
probably damaging |
1.00 |
|
IGL02477:Nsun7
|
APN |
5 |
66276649 |
missense |
probably damaging |
0.99 |
|
R0071:Nsun7
|
UTSW |
5 |
66264045 |
missense |
probably benign |
0.00 |
|
R0071:Nsun7
|
UTSW |
5 |
66264045 |
missense |
probably benign |
0.00 |
|
R0079:Nsun7
|
UTSW |
5 |
66295513 |
missense |
probably benign |
0.00 |
|
R0255:Nsun7
|
UTSW |
5 |
66289408 |
splice site |
probably benign |
|
|
R0503:Nsun7
|
UTSW |
5 |
66283581 |
splice site |
probably benign |
|
|
R0540:Nsun7
|
UTSW |
5 |
66283634 |
missense |
probably damaging |
0.98 |
|
R1416:Nsun7
|
UTSW |
5 |
66261080 |
missense |
probably damaging |
0.98 |
|
R1471:Nsun7
|
UTSW |
5 |
66284229 |
missense |
probably benign |
0.00 |
|
R1942:Nsun7
|
UTSW |
5 |
66284245 |
missense |
probably benign |
0.00 |
|
R1981:Nsun7
|
UTSW |
5 |
66261214 |
missense |
probably damaging |
0.99 |
|
R2037:Nsun7
|
UTSW |
5 |
66261086 |
missense |
probably benign |
0.06 |
|
R2098:Nsun7
|
UTSW |
5 |
66283712 |
missense |
probably damaging |
0.98 |
|
R2226:Nsun7
|
UTSW |
5 |
66261219 |
nonsense |
probably null |
|
|
R2996:Nsun7
|
UTSW |
5 |
66295554 |
missense |
probably benign |
0.01 |
|
R3882:Nsun7
|
UTSW |
5 |
66278640 |
missense |
probably damaging |
0.99 |
|
R4678:Nsun7
|
UTSW |
5 |
66261064 |
missense |
probably benign |
0.00 |
|
R4681:Nsun7
|
UTSW |
5 |
66261199 |
missense |
probably benign |
0.00 |
|
R4997:Nsun7
|
UTSW |
5 |
66295839 |
missense |
probably benign |
0.02 |
|
R6108:Nsun7
|
UTSW |
5 |
66295799 |
missense |
probably damaging |
0.99 |
|
R6465:Nsun7
|
UTSW |
5 |
66295586 |
missense |
probably benign |
0.35 |
|
R6500:Nsun7
|
UTSW |
5 |
66295484 |
missense |
probably benign |
0.11 |
|
R6746:Nsun7
|
UTSW |
5 |
66283737 |
critical splice donor site |
probably null |
|
|
R6925:Nsun7
|
UTSW |
5 |
66277072 |
missense |
probably damaging |
1.00 |
|
R7032:Nsun7
|
UTSW |
5 |
66264035 |
missense |
probably benign |
0.02 |
|
R7084:Nsun7
|
UTSW |
5 |
66295421 |
missense |
probably damaging |
1.00 |
|
R7098:Nsun7
|
UTSW |
5 |
66260983 |
missense |
probably damaging |
0.98 |
|
R7216:Nsun7
|
UTSW |
5 |
66278657 |
missense |
probably damaging |
1.00 |
|
R7276:Nsun7
|
UTSW |
5 |
66277141 |
missense |
probably benign |
0.03 |
|
R7803:Nsun7
|
UTSW |
5 |
66276541 |
nonsense |
probably null |
|
|
R8877:Nsun7
|
UTSW |
5 |
66295951 |
nonsense |
probably null |
|
|
R9167:Nsun7
|
UTSW |
5 |
66278651 |
missense |
possibly damaging |
0.95 |
|
R9222:Nsun7
|
UTSW |
5 |
66261023 |
missense |
probably benign |
|
|
| Posted On |
2013-10-07 |
Incidental Mutation