Incidental Mutation 'R2932:Nipal1'
| ID |
254968 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Nipal1
|
| Ensembl Gene |
ENSMUSG00000067219 |
| Gene Name |
NIPA-like domain containing 1 |
| Synonyms |
Npal1, 3830408G10Rik |
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.119)
|
| Stock # |
R2932 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
5 |
| Chromosomal Location |
72805139-72828421 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 72824978 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Valine
at position 224
(I224V)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000084462
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000087212]
[ENSMUST00000197837]
|
| AlphaFold |
Q8BMW7 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000087212
AA Change: I224V
PolyPhen 2
Score 0.463 (Sensitivity: 0.89; Specificity: 0.90)
|
| SMART Domains |
Protein: ENSMUSP00000084462
Gene: ENSMUSG00000067219
AA Change: I224V
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Mg_trans_NIPA
|
66 |
360 |
6e-136 |
PFAM |
|
Pfam:EamA
|
107 |
186 |
1.6e-11 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000197837
|
| SMART Domains |
Protein: ENSMUSP00000143667
Gene: ENSMUSG00000067219
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Mg_trans_NIPA
|
3 |
96 |
2.1e-45 |
PFAM |
|
Pfam:EamA
|
17 |
96 |
2.8e-10 |
PFAM |
|
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.2%
- 20x: 94.7%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 20 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Alms1 |
A |
G |
6: 85,597,544 (GRCm39) |
D1259G |
possibly damaging |
Het |
| Arpp21 |
T |
C |
9: 112,008,173 (GRCm39) |
D106G |
probably damaging |
Het |
| Atp6v1a |
A |
G |
16: 43,909,406 (GRCm39) |
S542P |
probably benign |
Het |
| Ccar1 |
T |
C |
10: 62,612,538 (GRCm39) |
N209S |
probably benign |
Het |
| Ccdc15 |
G |
A |
9: 37,226,954 (GRCm39) |
T327I |
probably benign |
Het |
| Dhx15 |
G |
A |
5: 52,324,074 (GRCm39) |
P406L |
probably benign |
Het |
| Fat3 |
G |
A |
9: 16,287,240 (GRCm39) |
S761L |
probably damaging |
Het |
| Loricrin |
AGCCGCCGCCGCCGCCGCCGCCGCCGCC |
AGCCGCCGCCGCCGCCGCCGCCGCC |
3: 91,989,185 (GRCm39) |
|
probably benign |
Het |
| Lrrc1 |
T |
A |
9: 77,364,721 (GRCm39) |
H153L |
probably benign |
Het |
| Lrrc46 |
T |
C |
11: 96,931,935 (GRCm39) |
|
probably benign |
Het |
| Mrgprb2 |
A |
G |
7: 48,202,194 (GRCm39) |
L177S |
probably benign |
Het |
| Mtmr2 |
A |
T |
9: 13,660,413 (GRCm39) |
|
probably benign |
Het |
| Mtnr1b |
A |
T |
9: 15,785,620 (GRCm39) |
V46E |
probably damaging |
Het |
| Myo5a |
A |
G |
9: 75,103,418 (GRCm39) |
E207G |
possibly damaging |
Het |
| Nalcn |
A |
G |
14: 123,830,430 (GRCm39) |
S137P |
probably benign |
Het |
| Oas1g |
T |
G |
5: 121,017,206 (GRCm39) |
K283Q |
probably benign |
Het |
| Pex12 |
T |
A |
11: 83,187,049 (GRCm39) |
M300L |
probably benign |
Het |
| Phldb2 |
A |
G |
16: 45,569,148 (GRCm39) |
V1237A |
possibly damaging |
Het |
| Rc3h2 |
C |
A |
2: 37,268,371 (GRCm39) |
V920F |
probably benign |
Het |
| Ulk1 |
C |
T |
5: 110,937,223 (GRCm39) |
R691Q |
probably benign |
Het |
|
| Other mutations in Nipal1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00425:Nipal1
|
APN |
5 |
72,816,067 (GRCm39) |
missense |
probably benign |
|
|
IGL01894:Nipal1
|
APN |
5 |
72,820,882 (GRCm39) |
missense |
probably benign |
0.02 |
|
IGL01962:Nipal1
|
APN |
5 |
72,825,401 (GRCm39) |
missense |
possibly damaging |
0.50 |
|
IGL02145:Nipal1
|
APN |
5 |
72,824,274 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02902:Nipal1
|
APN |
5 |
72,825,405 (GRCm39) |
missense |
possibly damaging |
0.49 |
|
IGL02934:Nipal1
|
APN |
5 |
72,805,250 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL03024:Nipal1
|
APN |
5 |
72,820,968 (GRCm39) |
critical splice donor site |
probably null |
|
|
IGL03237:Nipal1
|
APN |
5 |
72,824,150 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R0848:Nipal1
|
UTSW |
5 |
72,825,183 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R1024:Nipal1
|
UTSW |
5 |
72,825,334 (GRCm39) |
frame shift |
probably null |
|
|
R2106:Nipal1
|
UTSW |
5 |
72,820,902 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R2883:Nipal1
|
UTSW |
5 |
72,825,073 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5364:Nipal1
|
UTSW |
5 |
72,825,243 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6175:Nipal1
|
UTSW |
5 |
72,820,898 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6523:Nipal1
|
UTSW |
5 |
72,824,951 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R7185:Nipal1
|
UTSW |
5 |
72,824,198 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R7436:Nipal1
|
UTSW |
5 |
72,824,984 (GRCm39) |
missense |
probably benign |
0.00 |
|
R9388:Nipal1
|
UTSW |
5 |
72,825,557 (GRCm39) |
makesense |
probably null |
|
|
RF011:Nipal1
|
UTSW |
5 |
72,824,156 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- TCCAGATTCAAAGAGTGTTTGTGG -3'
(R):5'- AGTGCAAGCATGGTCAACAG -3'
Sequencing Primer
(F):5'- GTTCTATGAAATCACTAAGGAGCAG -3'
(R):5'- CAGGATGAAGAACAGGGGATCCTTG -3'
|
| Posted On |
2014-12-29 |
Incidental Mutation