Incidental Mutation 'R1080:Nkd1'
| ID |
85827 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Nkd1
|
| Ensembl Gene |
ENSMUSG00000031661 |
| Gene Name |
naked cuticle 1 |
| Synonyms |
2810434J10Rik, 9030215G15Rik |
| MMRRC Submission |
039166-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly essential
(E-score: 0.584)
|
| Stock # |
R1080 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
8 |
| Chromosomal Location |
89247982-89321512 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 89318647 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Methionine to Lysine
at position 428
(M428K)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000034086
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000034086]
[ENSMUST00000169179]
[ENSMUST00000211113]
|
| AlphaFold |
Q99MH6 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000034086
AA Change: M428K
PolyPhen 2
Score 0.023 (Sensitivity: 0.95; Specificity: 0.81)
|
| SMART Domains |
Protein: ENSMUSP00000034086
Gene: ENSMUSG00000031661
AA Change: M428K
| Domain | Start | End | E-Value | Type |
|---|
|
SCOP:d2pvba_
|
121 |
164 |
1e-3 |
SMART |
|
low complexity region
|
379 |
397 |
N/A |
INTRINSIC |
|
low complexity region
|
453 |
467 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000169179
AA Change: M324K
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
| SMART Domains |
Protein: ENSMUSP00000125935
Gene: ENSMUSG00000031661
AA Change: M324K
| Domain | Start | End | E-Value | Type |
|---|
|
SCOP:d2pvba_
|
17 |
60 |
5e-4 |
SMART |
|
low complexity region
|
275 |
293 |
N/A |
INTRINSIC |
|
low complexity region
|
349 |
363 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000211113
AA Change: M324K
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
| Coding Region Coverage |
- 1x: 99.4%
- 3x: 98.8%
- 10x: 97.5%
- 20x: 95.2%
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] In the mouse, Nkd is a Dishevelled (see DVL1; MIM 601365)-binding protein that functions as a negative regulator of the Wnt (see WNT1; MIM 164820)-beta-catenin (see MIM 116806)-Tcf (see MIM 602272) signaling pathway.[supplied by OMIM, Jun 2003]
PHENOTYPE: Homozygous null mice display reduced male fertility with oligozoospermia, small testis, and small seminiferous tubules. [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 |
|---|
| 2310022A10Rik |
A |
G |
7: 27,265,109 (GRCm39) |
N87S |
probably benign |
Het |
| Agbl3 |
A |
T |
6: 34,805,170 (GRCm39) |
N679I |
probably benign |
Het |
| Akp3 |
T |
A |
1: 87,054,723 (GRCm39) |
F353I |
probably damaging |
Het |
| Bltp1 |
A |
G |
3: 37,042,404 (GRCm39) |
T2797A |
probably damaging |
Het |
| Calu |
A |
G |
6: 29,366,919 (GRCm39) |
T44A |
possibly damaging |
Het |
| Cd180 |
G |
A |
13: 102,842,728 (GRCm39) |
W591* |
probably null |
Het |
| Cnbd2 |
A |
G |
2: 156,181,193 (GRCm39) |
N209S |
probably benign |
Het |
| Fam120a |
G |
T |
13: 49,039,219 (GRCm39) |
A979E |
possibly damaging |
Het |
| Fam136b-ps |
T |
C |
15: 31,276,739 (GRCm39) |
|
probably benign |
Het |
| Fbln5 |
A |
T |
12: 101,717,131 (GRCm39) |
M419K |
possibly damaging |
Het |
| Galr1 |
A |
C |
18: 82,423,632 (GRCm39) |
I215S |
probably damaging |
Het |
| Kcnma1 |
G |
C |
14: 23,544,675 (GRCm39) |
Q436E |
probably damaging |
Het |
| Khsrp |
GTCATT |
GT |
17: 57,331,410 (GRCm39) |
|
probably null |
Het |
| Klhdc8b |
T |
C |
9: 108,326,837 (GRCm39) |
N175S |
probably benign |
Het |
| Lrrk2 |
T |
C |
15: 91,557,892 (GRCm39) |
V76A |
probably benign |
Het |
| Mnat1 |
T |
C |
12: 73,319,292 (GRCm39) |
F305S |
probably damaging |
Het |
| Nck2 |
T |
C |
1: 43,572,741 (GRCm39) |
V5A |
probably benign |
Het |
| Or4e5 |
A |
T |
14: 52,728,042 (GRCm39) |
Y43* |
probably null |
Het |
| Pcdh7 |
T |
C |
5: 57,876,768 (GRCm39) |
C108R |
probably damaging |
Het |
| Rtf2 |
G |
T |
2: 172,310,666 (GRCm39) |
W299L |
probably damaging |
Het |
| Smtn |
C |
A |
11: 3,467,693 (GRCm39) |
R942L |
probably damaging |
Het |
| Svil |
C |
T |
18: 5,058,147 (GRCm39) |
P265S |
possibly damaging |
Het |
| Tdrd3 |
T |
C |
14: 87,743,834 (GRCm39) |
L588P |
probably benign |
Het |
| Tecpr1 |
A |
G |
5: 144,153,747 (GRCm39) |
Y169H |
probably damaging |
Het |
| Tktl2 |
G |
A |
8: 66,964,999 (GRCm39) |
V186M |
probably damaging |
Het |
| Tmprss2 |
G |
A |
16: 97,392,698 (GRCm39) |
S83L |
probably benign |
Het |
| Tut4 |
A |
G |
4: 108,336,696 (GRCm39) |
E140G |
possibly damaging |
Het |
| Vmn2r112 |
T |
C |
17: 22,837,980 (GRCm39) |
S814P |
probably damaging |
Het |
| Zfp386 |
T |
A |
12: 116,023,426 (GRCm39) |
C381* |
probably null |
Het |
| Zfp809 |
T |
G |
9: 22,146,405 (GRCm39) |
D31E |
probably damaging |
Het |
| Zfy2 |
T |
A |
Y: 2,121,645 (GRCm39) |
T83S |
probably benign |
Het |
| Zswim6 |
A |
G |
13: 107,924,186 (GRCm39) |
|
noncoding transcript |
Het |
|
| Other mutations in Nkd1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01341:Nkd1
|
APN |
8 |
89,318,180 (GRCm39) |
splice site |
probably benign |
|
|
IGL01724:Nkd1
|
APN |
8 |
89,248,923 (GRCm39) |
missense |
probably damaging |
0.98 |
|
IGL03297:Nkd1
|
APN |
8 |
89,300,902 (GRCm39) |
splice site |
probably benign |
|
|
PIT4508001:Nkd1
|
UTSW |
8 |
89,249,028 (GRCm39) |
missense |
probably benign |
0.04 |
|
R0350:Nkd1
|
UTSW |
8 |
89,311,844 (GRCm39) |
nonsense |
probably null |
|
|
R0611:Nkd1
|
UTSW |
8 |
89,248,944 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1946:Nkd1
|
UTSW |
8 |
89,318,745 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2036:Nkd1
|
UTSW |
8 |
89,318,305 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R2135:Nkd1
|
UTSW |
8 |
89,318,278 (GRCm39) |
missense |
probably benign |
0.06 |
|
R4623:Nkd1
|
UTSW |
8 |
89,316,383 (GRCm39) |
missense |
probably benign |
0.35 |
|
R5254:Nkd1
|
UTSW |
8 |
89,315,822 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6057:Nkd1
|
UTSW |
8 |
89,316,442 (GRCm39) |
critical splice donor site |
probably null |
|
|
R6168:Nkd1
|
UTSW |
8 |
89,311,859 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7424:Nkd1
|
UTSW |
8 |
89,311,803 (GRCm39) |
missense |
probably benign |
0.13 |
|
R9491:Nkd1
|
UTSW |
8 |
89,300,875 (GRCm39) |
missense |
probably benign |
0.33 |
|
R9784:Nkd1
|
UTSW |
8 |
89,318,330 (GRCm39) |
missense |
probably damaging |
1.00 |
|
X0024:Nkd1
|
UTSW |
8 |
89,318,763 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Z1177:Nkd1
|
UTSW |
8 |
89,318,679 (GRCm39) |
missense |
probably benign |
0.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- TGCAAGAAGCAAGCCTCCACTG -3'
(R):5'- GGTGAGTTACATGATCCCCACAACG -3'
Sequencing Primer
(F):5'- CTGGGGCACAAGAAACACA -3'
(R):5'- GCTGGCTAAATATTAGTGGagtaac -3'
|
| Posted On |
2013-11-18 |
Incidental Mutation