Incidental Mutation 'IGL02531:Nipal4'
| ID |
297303 |
| 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: 0.152)
|
| Stock # |
IGL02531
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
11 |
| Chromosomal Location |
46038982-46057186 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 46042152 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Methionine
at position 176
(I176M)
|
| 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: I176M
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000020679
Gene: ENSMUSG00000020411
AA Change: I176M
| 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: 34 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Aak1 |
C |
A |
6: 86,933,429 (GRCm39) |
H467N |
unknown |
Het |
| Alb |
A |
G |
5: 90,615,307 (GRCm39) |
D273G |
probably damaging |
Het |
| Arap3 |
A |
G |
18: 38,122,804 (GRCm39) |
S531P |
probably damaging |
Het |
| Bmpr2 |
T |
A |
1: 59,884,873 (GRCm39) |
|
probably null |
Het |
| Cfhr4 |
T |
C |
1: 139,702,307 (GRCm39) |
K59R |
probably benign |
Het |
| Chd7 |
G |
A |
4: 8,854,134 (GRCm39) |
R1902H |
probably damaging |
Het |
| Csgalnact1 |
C |
A |
8: 68,854,144 (GRCm39) |
G219V |
probably damaging |
Het |
| Cyp2b13 |
A |
T |
7: 25,761,030 (GRCm39) |
H29L |
possibly damaging |
Het |
| Enpp5 |
G |
T |
17: 44,391,843 (GRCm39) |
V91F |
probably damaging |
Het |
| Fam210b |
T |
C |
2: 172,194,675 (GRCm39) |
Y176H |
probably damaging |
Het |
| Fam83b |
T |
C |
9: 76,399,282 (GRCm39) |
E607G |
possibly damaging |
Het |
| Hhla1 |
C |
T |
15: 65,839,256 (GRCm39) |
|
probably benign |
Het |
| Kdm3b |
A |
G |
18: 34,928,782 (GRCm39) |
T178A |
probably benign |
Het |
| Klf1 |
T |
A |
8: 85,631,437 (GRCm39) |
F334I |
probably damaging |
Het |
| Klra8 |
A |
G |
6: 130,095,933 (GRCm39) |
S220P |
possibly damaging |
Het |
| Medag |
A |
G |
5: 149,345,616 (GRCm39) |
N99S |
probably benign |
Het |
| Muc6 |
T |
C |
7: 141,216,853 (GRCm39) |
T2607A |
possibly damaging |
Het |
| Mug2 |
T |
G |
6: 122,049,730 (GRCm39) |
L921R |
probably damaging |
Het |
| Nacad |
T |
C |
11: 6,548,580 (GRCm39) |
N1385D |
possibly damaging |
Het |
| Nin |
A |
G |
12: 70,067,706 (GRCm39) |
F1983L |
probably benign |
Het |
| Orc6 |
T |
C |
8: 86,029,998 (GRCm39) |
S47P |
probably damaging |
Het |
| Ovch2 |
C |
T |
7: 107,389,405 (GRCm39) |
C341Y |
probably damaging |
Het |
| Polq |
T |
A |
16: 36,882,736 (GRCm39) |
H1633Q |
possibly damaging |
Het |
| Rab23 |
T |
C |
1: 33,777,361 (GRCm39) |
|
probably benign |
Het |
| Rai14 |
A |
G |
15: 10,574,868 (GRCm39) |
S697P |
probably damaging |
Het |
| Rnf213 |
T |
C |
11: 119,327,628 (GRCm39) |
F1872L |
probably benign |
Het |
| Sdhc |
T |
C |
1: 170,963,587 (GRCm39) |
H127R |
probably damaging |
Het |
| Snx9 |
T |
C |
17: 5,942,095 (GRCm39) |
V74A |
probably benign |
Het |
| Spata31d1d |
A |
G |
13: 59,875,748 (GRCm39) |
S596P |
possibly damaging |
Het |
| Syt14 |
T |
C |
1: 192,584,242 (GRCm39) |
*78W |
probably null |
Het |
| Thoc1 |
A |
G |
18: 9,970,258 (GRCm39) |
T203A |
probably benign |
Het |
| Trmt13 |
A |
G |
3: 116,385,840 (GRCm39) |
|
probably null |
Het |
| Ttc28 |
A |
G |
5: 111,373,716 (GRCm39) |
I1020V |
probably damaging |
Het |
| Vmn2r16 |
A |
G |
5: 109,488,134 (GRCm39) |
T336A |
probably damaging |
Het |
|
| Other mutations in Nipal4 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL03203:Nipal4
|
APN |
11 |
46,041,123 (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 |
2015-04-16 |
Incidental Mutation