Incidental Mutation 'IGL03223:Nhs'
| ID |
413715 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Nhs
|
| Ensembl Gene |
ENSMUSG00000059493 |
| Gene Name |
NHS actin remodeling regulator |
| Synonyms |
Nance-Horan syndrome (human), LOC245686, LOC195727 |
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
IGL03223
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
X |
| Chromosomal Location |
160616286-160942437 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 160624902 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Phenylalanine
at position 837
(I837F)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000084319
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000081569]
[ENSMUST00000087085]
|
| AlphaFold |
B1AV60 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000081569
AA Change: I816F
PolyPhen 2
Score 0.239 (Sensitivity: 0.91; Specificity: 0.88)
|
| SMART Domains |
Protein: ENSMUSP00000080280
Gene: ENSMUSG00000059493
AA Change: I816F
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
34 |
77 |
N/A |
INTRINSIC |
|
low complexity region
|
88 |
106 |
N/A |
INTRINSIC |
|
low complexity region
|
233 |
266 |
N/A |
INTRINSIC |
|
low complexity region
|
368 |
376 |
N/A |
INTRINSIC |
|
Pfam:NHS
|
414 |
1054 |
2.5e-226 |
PFAM |
|
low complexity region
|
1451 |
1468 |
N/A |
INTRINSIC |
|
low complexity region
|
1573 |
1593 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000087085
AA Change: I837F
PolyPhen 2
Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000084319
Gene: ENSMUSG00000059493
AA Change: I837F
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
34 |
77 |
N/A |
INTRINSIC |
|
low complexity region
|
88 |
106 |
N/A |
INTRINSIC |
|
low complexity region
|
233 |
266 |
N/A |
INTRINSIC |
|
low complexity region
|
389 |
397 |
N/A |
INTRINSIC |
|
Pfam:NHS
|
436 |
1075 |
1.9e-217 |
PFAM |
|
low complexity region
|
1472 |
1489 |
N/A |
INTRINSIC |
|
low complexity region
|
1594 |
1614 |
N/A |
INTRINSIC |
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a protein containing four conserved nuclear localization signals. The encoded protein functions in eye, tooth, craniofacial and brain development, and it can regulate actin remodeling and cell morphology. Mutations in this gene have been shown to cause Nance-Horan syndrome, and also X-linked cataract-40. Alternatively spliced transcript variants encoding different isoforms have been described for this gene. [provided by RefSeq, May 2014]
PHENOTYPE: Heterozygous females exhibit variable and patchy lens opacity. Homozygous females and hemizygous males exhibit complete lens opacity associated with progressive degeneration of primary fibers beginning around embryonic day 15. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 28 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Aldh3b1 |
T |
A |
19: 3,965,329 (GRCm39) |
H394L |
probably damaging |
Het |
| B430306N03Rik |
G |
A |
17: 48,623,896 (GRCm39) |
V66I |
probably damaging |
Het |
| Btbd10 |
T |
C |
7: 112,931,877 (GRCm39) |
N175S |
probably damaging |
Het |
| Dock4 |
C |
A |
12: 40,867,593 (GRCm39) |
Q1390K |
probably damaging |
Het |
| Eea1 |
A |
C |
10: 95,875,473 (GRCm39) |
E1248A |
probably damaging |
Het |
| Farp2 |
T |
A |
1: 93,545,324 (GRCm39) |
Y827* |
probably null |
Het |
| Gcc2 |
A |
G |
10: 58,134,556 (GRCm39) |
Y1510C |
probably damaging |
Het |
| Igfbp7 |
A |
C |
5: 77,497,318 (GRCm39) |
|
probably benign |
Het |
| Il1rapl1 |
A |
C |
X: 86,344,341 (GRCm39) |
C185G |
probably damaging |
Het |
| Itga7 |
A |
G |
10: 128,784,680 (GRCm39) |
|
probably benign |
Het |
| Itsn1 |
T |
C |
16: 91,702,194 (GRCm39) |
V12A |
probably benign |
Het |
| Lrrc4 |
A |
T |
6: 28,831,469 (GRCm39) |
C49S |
probably damaging |
Het |
| Lrrc49 |
T |
A |
9: 60,595,128 (GRCm39) |
K5N |
possibly damaging |
Het |
| Myh13 |
T |
C |
11: 67,241,068 (GRCm39) |
I815T |
probably benign |
Het |
| Myh8 |
T |
C |
11: 67,174,644 (GRCm39) |
I253T |
probably damaging |
Het |
| Myo19 |
A |
G |
11: 84,801,297 (GRCm39) |
T948A |
possibly damaging |
Het |
| Or5b113 |
G |
T |
19: 13,342,645 (GRCm39) |
V218L |
probably benign |
Het |
| Or5b98 |
T |
C |
19: 12,931,268 (GRCm39) |
V105A |
probably benign |
Het |
| Pfpl |
A |
T |
19: 12,407,438 (GRCm39) |
Q563L |
probably damaging |
Het |
| Swt1 |
A |
G |
1: 151,255,170 (GRCm39) |
M809T |
possibly damaging |
Het |
| Tbc1d13 |
T |
A |
2: 30,038,648 (GRCm39) |
I311N |
probably damaging |
Het |
| Tgs1 |
T |
C |
4: 3,591,322 (GRCm39) |
|
probably benign |
Het |
| Usf3 |
C |
T |
16: 44,036,813 (GRCm39) |
T431M |
probably damaging |
Het |
| Vdac1 |
G |
A |
11: 52,267,482 (GRCm39) |
R93H |
probably benign |
Het |
| Vmn1r234 |
G |
A |
17: 21,449,653 (GRCm39) |
G189D |
probably damaging |
Het |
| Zfp14 |
A |
G |
7: 29,737,858 (GRCm39) |
Y376H |
probably damaging |
Het |
| Zfp472 |
T |
C |
17: 33,196,248 (GRCm39) |
C108R |
probably benign |
Het |
| Zfp658 |
A |
G |
7: 43,216,735 (GRCm39) |
E35G |
possibly damaging |
Het |
|
| Other mutations in Nhs |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00940:Nhs
|
APN |
X |
160,620,226 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL00963:Nhs
|
APN |
X |
160,630,045 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01330:Nhs
|
APN |
X |
160,624,449 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02585:Nhs
|
APN |
X |
160,624,760 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02645:Nhs
|
APN |
X |
160,942,054 (GRCm39) |
missense |
probably benign |
0.00 |
|
R0511:Nhs
|
UTSW |
X |
160,620,355 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0512:Nhs
|
UTSW |
X |
160,620,355 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0730:Nhs
|
UTSW |
X |
160,620,296 (GRCm39) |
missense |
possibly damaging |
0.76 |
|
R2072:Nhs
|
UTSW |
X |
160,625,717 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2073:Nhs
|
UTSW |
X |
160,625,717 (GRCm39) |
missense |
probably damaging |
1.00 |
|
X0024:Nhs
|
UTSW |
X |
160,623,218 (GRCm39) |
missense |
possibly damaging |
0.71 |
|
| Posted On |
2016-08-02 |
Incidental Mutation