Incidental Mutation 'IGL03121:Nkd2'
| ID |
409967 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Nkd2
|
| Ensembl Gene |
ENSMUSG00000021567 |
| Gene Name |
naked cuticle 2 |
| Synonyms |
2210403L10Rik |
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
IGL03121
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
13 |
| Chromosomal Location |
73966653-73995750 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to A
at 73969498 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Alanine to Serine
at position 311
(A311S)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000113794
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000017900]
[ENSMUST00000022051]
[ENSMUST00000118096]
[ENSMUST00000222004]
|
| AlphaFold |
Q8VE28 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000017900
|
| SMART Domains |
Protein: ENSMUSP00000017900
Gene: ENSMUSG00000017756
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
11 |
27 |
N/A |
INTRINSIC |
|
low complexity region
|
99 |
113 |
N/A |
INTRINSIC |
|
Pfam:AA_permease
|
123 |
308 |
1e-22 |
PFAM |
|
low complexity region
|
390 |
407 |
N/A |
INTRINSIC |
|
Pfam:AA_permease
|
410 |
696 |
1.5e-40 |
PFAM |
|
Pfam:SLC12
|
708 |
834 |
4.6e-18 |
PFAM |
|
Pfam:SLC12
|
818 |
1083 |
2.3e-32 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000022051
AA Change: A323S
PolyPhen 2
Score 0.109 (Sensitivity: 0.93; Specificity: 0.86)
|
| SMART Domains |
Protein: ENSMUSP00000022051
Gene: ENSMUSG00000021567
AA Change: A323S
| Domain | Start | End | E-Value | Type |
|---|
|
SCOP:d1alva_
|
133 |
160 |
7e-3 |
SMART |
|
low complexity region
|
341 |
358 |
N/A |
INTRINSIC |
|
low complexity region
|
380 |
390 |
N/A |
INTRINSIC |
|
low complexity region
|
441 |
459 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000118096
AA Change: A311S
PolyPhen 2
Score 0.109 (Sensitivity: 0.93; Specificity: 0.86)
|
| SMART Domains |
Protein: ENSMUSP00000113794
Gene: ENSMUSG00000021567
AA Change: A311S
| Domain | Start | End | E-Value | Type |
|---|
|
SCOP:d1alva_
|
121 |
148 |
7e-3 |
SMART |
|
low complexity region
|
329 |
346 |
N/A |
INTRINSIC |
|
low complexity region
|
368 |
378 |
N/A |
INTRINSIC |
|
low complexity region
|
429 |
447 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000138899
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000220522
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000222004
|
| 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 member of a family of proteins that function as negative regulators of Wnt receptor signaling through interaction with Dishevelled family members. The encoded protein participates in the delivery of transforming growth factor alpha-containing vesicles to the cell membrane. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Aug 2012]
PHENOTYPE: Mice homozygous for a reporter allele are viable and fertile but show a slight and background-sensitive reduction in average litter size relative to control mice. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 32 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1700012B09Rik |
A |
G |
9: 14,672,946 (GRCm39) |
S4P |
possibly damaging |
Het |
| A2m |
A |
G |
6: 121,618,265 (GRCm39) |
N186S |
probably benign |
Het |
| Afg2a |
T |
C |
3: 37,518,800 (GRCm39) |
I778T |
probably damaging |
Het |
| Ago1 |
T |
C |
4: 126,353,796 (GRCm39) |
K261R |
probably benign |
Het |
| Alas1 |
G |
A |
9: 106,124,113 (GRCm39) |
P15L |
probably damaging |
Het |
| Aox1 |
G |
A |
1: 58,398,113 (GRCm39) |
V1285M |
probably damaging |
Het |
| Brd8 |
A |
T |
18: 34,739,740 (GRCm39) |
F678I |
probably damaging |
Het |
| Col27a1 |
T |
A |
4: 63,143,446 (GRCm39) |
M378K |
probably benign |
Het |
| Dpy19l4 |
C |
A |
4: 11,303,334 (GRCm39) |
V196F |
probably damaging |
Het |
| Dst |
G |
T |
1: 34,256,884 (GRCm39) |
|
probably benign |
Het |
| Hsd17b1 |
T |
A |
11: 100,970,870 (GRCm39) |
Y275* |
probably null |
Het |
| Kdm3b |
A |
G |
18: 34,928,762 (GRCm39) |
E171G |
probably damaging |
Het |
| Klc1 |
T |
C |
12: 111,748,076 (GRCm39) |
|
probably benign |
Het |
| Mlkl |
G |
A |
8: 112,041,612 (GRCm39) |
R443W |
probably damaging |
Het |
| Mov10 |
A |
T |
3: 104,708,318 (GRCm39) |
V477E |
probably benign |
Het |
| Nacad |
A |
G |
11: 6,550,933 (GRCm39) |
S753P |
probably damaging |
Het |
| Ncapd2 |
A |
C |
6: 125,150,575 (GRCm39) |
M842R |
probably benign |
Het |
| Nrg1 |
A |
G |
8: 32,314,608 (GRCm39) |
|
probably benign |
Het |
| Or4f6 |
A |
G |
2: 111,838,953 (GRCm39) |
Y193H |
probably benign |
Het |
| Or6c68 |
A |
G |
10: 129,158,037 (GRCm39) |
I182V |
probably benign |
Het |
| Pde6h |
A |
G |
6: 136,936,280 (GRCm39) |
S8G |
probably null |
Het |
| Pik3c2b |
A |
G |
1: 133,007,483 (GRCm39) |
K616E |
probably benign |
Het |
| Pnpt1 |
A |
T |
11: 29,082,845 (GRCm39) |
R54S |
probably benign |
Het |
| Pramel38 |
T |
C |
5: 94,368,912 (GRCm39) |
V469A |
possibly damaging |
Het |
| Rttn |
A |
G |
18: 88,993,875 (GRCm39) |
D184G |
probably damaging |
Het |
| Skint5 |
T |
A |
4: 113,574,284 (GRCm39) |
I756F |
unknown |
Het |
| Slc24a2 |
T |
C |
4: 87,145,143 (GRCm39) |
T304A |
probably benign |
Het |
| Stk3 |
A |
T |
15: 35,099,572 (GRCm39) |
|
probably benign |
Het |
| Trim69 |
A |
G |
2: 121,998,128 (GRCm39) |
I33M |
probably benign |
Het |
| Ube2q2 |
A |
T |
9: 55,102,323 (GRCm39) |
|
probably benign |
Het |
| Vmn1r67 |
T |
A |
7: 10,181,394 (GRCm39) |
N158K |
probably benign |
Het |
| Wipi2 |
G |
A |
5: 142,648,857 (GRCm39) |
E252K |
probably benign |
Het |
|
| Other mutations in Nkd2 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01583:Nkd2
|
APN |
13 |
73,969,599 (GRCm39) |
missense |
probably benign |
0.01 |
|
R0635:Nkd2
|
UTSW |
13 |
73,975,013 (GRCm39) |
missense |
probably benign |
0.03 |
|
R4062:Nkd2
|
UTSW |
13 |
73,970,809 (GRCm39) |
missense |
probably null |
1.00 |
|
R4546:Nkd2
|
UTSW |
13 |
73,971,475 (GRCm39) |
missense |
probably benign |
0.02 |
|
R4724:Nkd2
|
UTSW |
13 |
73,995,124 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R4934:Nkd2
|
UTSW |
13 |
73,970,841 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5051:Nkd2
|
UTSW |
13 |
73,973,195 (GRCm39) |
missense |
probably benign |
0.06 |
|
R5353:Nkd2
|
UTSW |
13 |
73,969,557 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R6228:Nkd2
|
UTSW |
13 |
73,969,579 (GRCm39) |
missense |
probably benign |
0.00 |
|
R6242:Nkd2
|
UTSW |
13 |
73,970,905 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R6530:Nkd2
|
UTSW |
13 |
73,970,809 (GRCm39) |
missense |
probably null |
1.00 |
|
R7475:Nkd2
|
UTSW |
13 |
73,973,861 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7486:Nkd2
|
UTSW |
13 |
73,995,561 (GRCm39) |
splice site |
probably benign |
|
|
R7530:Nkd2
|
UTSW |
13 |
73,995,078 (GRCm39) |
missense |
possibly damaging |
0.88 |
|
R8271:Nkd2
|
UTSW |
13 |
73,969,437 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8336:Nkd2
|
UTSW |
13 |
73,969,192 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9288:Nkd2
|
UTSW |
13 |
73,995,177 (GRCm39) |
intron |
probably benign |
|
|
R9411:Nkd2
|
UTSW |
13 |
73,969,330 (GRCm39) |
missense |
probably benign |
0.10 |
|
R9766:Nkd2
|
UTSW |
13 |
73,995,131 (GRCm39) |
missense |
possibly damaging |
0.88 |
|
| Posted On |
2016-08-02 |
Incidental Mutation