Incidental Mutation 'IGL03203:Nipal4'
| ID |
413056 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Nipal4
|
| Ensembl Gene |
ENSMUSG00000020411 |
| Gene Name |
NIPA-like domain containing 4 |
| Synonyms |
9530066K23Rik |
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.171)
|
| Stock # |
IGL03203
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
11 |
| Chromosomal Location |
46038982-46057186 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to A
at 46041123 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Leucine to Phenylalanine
at position 357
(L357F)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000020679
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000011400]
[ENSMUST00000020679]
|
| AlphaFold |
Q8BZF2 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000011400
|
| SMART Domains |
Protein: ENSMUSP00000011400
Gene: ENSMUSG00000011256
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
26 |
N/A |
INTRINSIC |
|
Pfam:Pep_M12B_propep
|
32 |
163 |
9.4e-27 |
PFAM |
|
Pfam:Reprolysin_5
|
209 |
388 |
1.9e-25 |
PFAM |
|
Pfam:Reprolysin_4
|
209 |
399 |
1.5e-15 |
PFAM |
|
Pfam:Reprolysin
|
211 |
409 |
1.3e-68 |
PFAM |
|
Pfam:Reprolysin_2
|
231 |
399 |
6.1e-19 |
PFAM |
|
Pfam:Reprolysin_3
|
235 |
357 |
1.2e-19 |
PFAM |
|
DISIN
|
426 |
501 |
9.7e-41 |
SMART |
|
ACR
|
502 |
650 |
7.46e-62 |
SMART |
|
transmembrane domain
|
704 |
726 |
N/A |
INTRINSIC |
|
low complexity region
|
788 |
797 |
N/A |
INTRINSIC |
|
low complexity region
|
832 |
846 |
N/A |
INTRINSIC |
|
low complexity region
|
886 |
905 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000020679
AA Change: L357F
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000020679
Gene: ENSMUSG00000020411
AA Change: L357F
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Mg_trans_NIPA
|
56 |
350 |
1.6e-122 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000144915
|
| 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 likely encodes a membrane receptor. Mutations in this gene have been associated with autosomal recessive congenital ichthyosis. [provided by RefSeq, Feb 2010]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 27 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acap2 |
A |
T |
16: 30,915,163 (GRCm39) |
|
probably benign |
Het |
| Adamts17 |
T |
G |
7: 66,711,856 (GRCm39) |
I725S |
probably damaging |
Het |
| Arhgef3 |
T |
C |
14: 27,116,073 (GRCm39) |
Y292H |
probably damaging |
Het |
| Cdh19 |
C |
T |
1: 110,817,828 (GRCm39) |
C638Y |
possibly damaging |
Het |
| Ces1c |
A |
T |
8: 93,851,216 (GRCm39) |
M136K |
probably damaging |
Het |
| Col11a1 |
A |
G |
3: 114,005,733 (GRCm39) |
I482V |
possibly damaging |
Het |
| Col4a3 |
A |
T |
1: 82,650,360 (GRCm39) |
K539* |
probably null |
Het |
| D630045J12Rik |
A |
G |
6: 38,145,156 (GRCm39) |
V1290A |
probably damaging |
Het |
| Ear6 |
T |
G |
14: 52,091,703 (GRCm39) |
S83R |
probably benign |
Het |
| Gdf10 |
T |
C |
14: 33,656,430 (GRCm39) |
V464A |
possibly damaging |
Het |
| Herc1 |
T |
C |
9: 66,296,182 (GRCm39) |
|
probably null |
Het |
| Katnal2 |
G |
T |
18: 77,095,220 (GRCm39) |
A194E |
probably damaging |
Het |
| Lpxn |
A |
T |
19: 12,796,770 (GRCm39) |
M97L |
probably benign |
Het |
| Mn1 |
T |
C |
5: 111,569,269 (GRCm39) |
S1080P |
probably benign |
Het |
| Nadk |
T |
C |
4: 155,669,708 (GRCm39) |
F89L |
probably damaging |
Het |
| Nek5 |
G |
A |
8: 22,608,784 (GRCm39) |
R92W |
probably damaging |
Het |
| Nelfcd |
G |
A |
2: 174,268,625 (GRCm39) |
A559T |
possibly damaging |
Het |
| Or12d12 |
A |
G |
17: 37,611,317 (GRCm39) |
|
probably benign |
Het |
| Pcdhb6 |
A |
G |
18: 37,467,585 (GRCm39) |
N169D |
possibly damaging |
Het |
| Plppr4 |
A |
G |
3: 117,119,540 (GRCm39) |
C290R |
possibly damaging |
Het |
| Rxfp2 |
A |
G |
5: 149,987,145 (GRCm39) |
D332G |
probably benign |
Het |
| Slc9b2 |
G |
A |
3: 135,031,973 (GRCm39) |
D278N |
probably damaging |
Het |
| Taok1 |
A |
G |
11: 77,430,911 (GRCm39) |
V838A |
probably damaging |
Het |
| Thoc1 |
T |
A |
18: 9,960,483 (GRCm39) |
|
probably benign |
Het |
| Usp36 |
C |
T |
11: 118,176,636 (GRCm39) |
V61I |
probably benign |
Het |
| Uxs1 |
A |
G |
1: 43,846,504 (GRCm39) |
|
probably benign |
Het |
| Zmat4 |
C |
T |
8: 24,505,200 (GRCm39) |
H147Y |
probably damaging |
Het |
|
| Other mutations in Nipal4 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL02531:Nipal4
|
APN |
11 |
46,042,152 (GRCm39) |
missense |
probably damaging |
1.00 |
|
H8786:Nipal4
|
UTSW |
11 |
46,041,304 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0239:Nipal4
|
UTSW |
11 |
46,041,268 (GRCm39) |
missense |
possibly damaging |
0.80 |
|
R0239:Nipal4
|
UTSW |
11 |
46,041,268 (GRCm39) |
missense |
possibly damaging |
0.80 |
|
R0331:Nipal4
|
UTSW |
11 |
46,041,040 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0414:Nipal4
|
UTSW |
11 |
46,052,735 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0613:Nipal4
|
UTSW |
11 |
46,041,211 (GRCm39) |
missense |
probably benign |
0.31 |
|
R0940:Nipal4
|
UTSW |
11 |
46,041,139 (GRCm39) |
missense |
possibly damaging |
0.48 |
|
R1797:Nipal4
|
UTSW |
11 |
46,042,160 (GRCm39) |
missense |
probably benign |
0.06 |
|
R1889:Nipal4
|
UTSW |
11 |
46,041,560 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R1899:Nipal4
|
UTSW |
11 |
46,041,058 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1974:Nipal4
|
UTSW |
11 |
46,042,210 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2066:Nipal4
|
UTSW |
11 |
46,047,622 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3705:Nipal4
|
UTSW |
11 |
46,052,678 (GRCm39) |
splice site |
probably benign |
|
|
R3941:Nipal4
|
UTSW |
11 |
46,041,473 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4597:Nipal4
|
UTSW |
11 |
46,042,156 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4965:Nipal4
|
UTSW |
11 |
46,052,837 (GRCm39) |
missense |
possibly damaging |
0.68 |
|
R5888:Nipal4
|
UTSW |
11 |
46,042,166 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R6533:Nipal4
|
UTSW |
11 |
46,041,234 (GRCm39) |
nonsense |
probably null |
|
|
R7444:Nipal4
|
UTSW |
11 |
46,057,062 (GRCm39) |
missense |
probably benign |
0.27 |
|
R8099:Nipal4
|
UTSW |
11 |
46,052,848 (GRCm39) |
missense |
probably benign |
0.05 |
|
R8203:Nipal4
|
UTSW |
11 |
46,041,147 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8825:Nipal4
|
UTSW |
11 |
46,052,873 (GRCm39) |
missense |
probably benign |
0.01 |
|
R8826:Nipal4
|
UTSW |
11 |
46,045,470 (GRCm39) |
missense |
possibly damaging |
0.63 |
|
R8881:Nipal4
|
UTSW |
11 |
46,042,177 (GRCm39) |
missense |
probably benign |
0.00 |
|
R9514:Nipal4
|
UTSW |
11 |
46,052,922 (GRCm39) |
critical splice acceptor site |
probably null |
|
|
R9768:Nipal4
|
UTSW |
11 |
46,041,473 (GRCm39) |
missense |
probably damaging |
1.00 |
|
X0018:Nipal4
|
UTSW |
11 |
46,052,873 (GRCm39) |
missense |
probably benign |
0.01 |
|
| Posted On |
2016-08-02 |
Incidental Mutation