Incidental Mutation 'R3734:Nipal3'
ID |
269993 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Nipal3
|
Ensembl Gene |
ENSMUSG00000028803 |
Gene Name |
NIPA-like domain containing 3 |
Synonyms |
Npal3, 9130020G22Rik |
MMRRC Submission |
040721-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.075)
|
Stock # |
R3734 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
4 |
Chromosomal Location |
135173454-135222283 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 135191157 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Threonine to Alanine
at position 325
(T325A)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000099608
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000102549]
[ENSMUST00000105856]
[ENSMUST00000183807]
|
AlphaFold |
Q8BGN5 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000102549
AA Change: T325A
PolyPhen 2
Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
|
SMART Domains |
Protein: ENSMUSP00000099608 Gene: ENSMUSG00000028803 AA Change: T325A
Domain | Start | End | E-Value | Type |
Pfam:Mg_trans_NIPA
|
33 |
333 |
5e-75 |
PFAM |
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000105856
AA Change: T325A
PolyPhen 2
Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)
|
SMART Domains |
Protein: ENSMUSP00000101482 Gene: ENSMUSG00000028803 AA Change: T325A
Domain | Start | End | E-Value | Type |
low complexity region
|
13 |
33 |
N/A |
INTRINSIC |
Pfam:Mg_trans_NIPA
|
35 |
330 |
9.5e-75 |
PFAM |
|
Predicted Effect |
unknown
Transcript: ENSMUST00000140982
AA Change: T184A
|
SMART Domains |
Protein: ENSMUSP00000118178 Gene: ENSMUSG00000028803 AA Change: T184A
Domain | Start | End | E-Value | Type |
Pfam:Mg_trans_NIPA
|
1 |
190 |
1.2e-47 |
PFAM |
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000183807
AA Change: T325A
PolyPhen 2
Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)
|
SMART Domains |
Protein: ENSMUSP00000139088 Gene: ENSMUSG00000028803 AA Change: T325A
Domain | Start | End | E-Value | Type |
Pfam:Mg_trans_NIPA
|
33 |
333 |
3.8e-75 |
PFAM |
|
Meta Mutation Damage Score |
0.3765 |
Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.5%
- 10x: 96.9%
- 20x: 93.9%
|
Validation Efficiency |
95% (41/43) |
MGI Phenotype |
PHENOTYPE: Mice homozygous for a knock-out allele exhibit gender-dependent behavioral and immune system abnormalities. [provided by MGI curators]
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 40 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
2700049A03Rik |
G |
T |
12: 71,211,320 (GRCm39) |
E685* |
probably null |
Het |
2700049A03Rik |
A |
T |
12: 71,211,321 (GRCm39) |
E685V |
possibly damaging |
Het |
Ablim1 |
A |
T |
19: 57,037,892 (GRCm39) |
|
probably null |
Het |
Blvra |
A |
T |
2: 126,932,175 (GRCm39) |
|
probably benign |
Het |
Ccdc87 |
G |
T |
19: 4,891,951 (GRCm39) |
W814C |
probably damaging |
Het |
Cyp2a4 |
A |
G |
7: 26,012,252 (GRCm39) |
D345G |
probably damaging |
Het |
Dsg2 |
T |
C |
18: 20,735,004 (GRCm39) |
V994A |
probably benign |
Het |
Edem1 |
T |
C |
6: 108,818,582 (GRCm39) |
F197L |
probably damaging |
Het |
Eps8l2 |
A |
C |
7: 140,937,734 (GRCm39) |
Y418S |
probably damaging |
Het |
Ergic2 |
T |
C |
6: 148,104,020 (GRCm39) |
D79G |
probably damaging |
Het |
Fcgr3 |
T |
C |
1: 170,885,443 (GRCm39) |
M60V |
probably benign |
Het |
Gldn |
A |
G |
9: 54,245,946 (GRCm39) |
K499R |
possibly damaging |
Het |
Golga1 |
G |
T |
2: 38,940,182 (GRCm39) |
Q141K |
possibly damaging |
Het |
Ift122 |
A |
G |
6: 115,902,462 (GRCm39) |
|
probably benign |
Het |
Iqcg |
G |
T |
16: 32,873,996 (GRCm39) |
|
probably benign |
Het |
Itga1 |
T |
C |
13: 115,114,175 (GRCm39) |
H910R |
probably benign |
Het |
Jak3 |
C |
A |
8: 72,129,225 (GRCm39) |
|
probably benign |
Het |
Jrkl |
A |
G |
9: 13,245,535 (GRCm39) |
V42A |
possibly damaging |
Het |
Kif2c |
T |
C |
4: 117,019,843 (GRCm39) |
S515G |
probably benign |
Het |
Lag3 |
A |
T |
6: 124,887,103 (GRCm39) |
S155T |
probably benign |
Het |
Lsamp |
T |
C |
16: 41,965,133 (GRCm39) |
I330T |
probably benign |
Het |
Map3k6 |
T |
C |
4: 132,975,707 (GRCm39) |
S732P |
possibly damaging |
Het |
Muc5b |
C |
T |
7: 141,412,774 (GRCm39) |
Q1907* |
probably null |
Het |
Nap1l4 |
A |
C |
7: 143,088,132 (GRCm39) |
|
probably benign |
Het |
Nol4 |
A |
T |
18: 22,903,921 (GRCm39) |
|
probably benign |
Het |
Or2l13b |
T |
A |
16: 19,349,398 (GRCm39) |
I91F |
probably damaging |
Het |
Otog |
A |
G |
7: 45,937,792 (GRCm39) |
T1834A |
probably benign |
Het |
Panx1 |
GTTCTTCT |
GTTCT |
9: 14,917,467 (GRCm39) |
|
probably benign |
Het |
Pbld2 |
T |
C |
10: 62,907,244 (GRCm39) |
L161P |
probably damaging |
Het |
Pcdha6 |
T |
A |
18: 37,102,454 (GRCm39) |
V549E |
probably damaging |
Het |
Robo2 |
A |
C |
16: 73,717,635 (GRCm39) |
L1159W |
possibly damaging |
Het |
Scmh1 |
T |
A |
4: 120,335,277 (GRCm39) |
I154N |
probably damaging |
Het |
Skor1 |
A |
T |
9: 63,047,350 (GRCm39) |
L879Q |
probably damaging |
Het |
Slc1a7 |
G |
C |
4: 107,834,841 (GRCm39) |
R69P |
probably damaging |
Het |
Stk4 |
T |
A |
2: 163,930,828 (GRCm39) |
M143K |
probably benign |
Het |
Tenm1 |
C |
T |
X: 41,772,944 (GRCm39) |
V1023M |
probably benign |
Het |
Tpte |
G |
A |
8: 22,849,498 (GRCm39) |
C575Y |
probably damaging |
Het |
Ulk4 |
T |
C |
9: 121,091,055 (GRCm39) |
K216E |
probably benign |
Het |
Unc5d |
T |
C |
8: 29,251,826 (GRCm39) |
I216V |
probably benign |
Het |
Vmn2r16 |
T |
C |
5: 109,478,280 (GRCm39) |
S12P |
probably benign |
Het |
|
Other mutations in Nipal3 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL00942:Nipal3
|
APN |
4 |
135,195,904 (GRCm39) |
missense |
possibly damaging |
0.90 |
IGL01338:Nipal3
|
APN |
4 |
135,199,194 (GRCm39) |
critical splice donor site |
probably null |
|
IGL02149:Nipal3
|
APN |
4 |
135,194,163 (GRCm39) |
missense |
possibly damaging |
0.67 |
IGL02160:Nipal3
|
APN |
4 |
135,201,728 (GRCm39) |
nonsense |
probably null |
|
IGL02560:Nipal3
|
APN |
4 |
135,207,015 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02826:Nipal3
|
APN |
4 |
135,195,861 (GRCm39) |
nonsense |
probably null |
|
IGL02868:Nipal3
|
APN |
4 |
135,194,182 (GRCm39) |
missense |
probably damaging |
1.00 |
R0189:Nipal3
|
UTSW |
4 |
135,195,829 (GRCm39) |
missense |
possibly damaging |
0.89 |
R0470:Nipal3
|
UTSW |
4 |
135,174,683 (GRCm39) |
missense |
probably damaging |
0.99 |
R0891:Nipal3
|
UTSW |
4 |
135,195,898 (GRCm39) |
missense |
possibly damaging |
0.91 |
R1633:Nipal3
|
UTSW |
4 |
135,174,659 (GRCm39) |
missense |
probably benign |
0.03 |
R1686:Nipal3
|
UTSW |
4 |
135,174,599 (GRCm39) |
missense |
possibly damaging |
0.49 |
R2921:Nipal3
|
UTSW |
4 |
135,204,776 (GRCm39) |
missense |
probably damaging |
1.00 |
R2923:Nipal3
|
UTSW |
4 |
135,204,776 (GRCm39) |
missense |
probably damaging |
1.00 |
R3732:Nipal3
|
UTSW |
4 |
135,191,157 (GRCm39) |
missense |
probably damaging |
1.00 |
R3732:Nipal3
|
UTSW |
4 |
135,191,157 (GRCm39) |
missense |
probably damaging |
1.00 |
R3733:Nipal3
|
UTSW |
4 |
135,191,157 (GRCm39) |
missense |
probably damaging |
1.00 |
R5057:Nipal3
|
UTSW |
4 |
135,194,167 (GRCm39) |
missense |
probably damaging |
1.00 |
R5616:Nipal3
|
UTSW |
4 |
135,179,715 (GRCm39) |
missense |
probably benign |
0.01 |
R5758:Nipal3
|
UTSW |
4 |
135,179,874 (GRCm39) |
missense |
probably benign |
0.02 |
R5779:Nipal3
|
UTSW |
4 |
135,179,650 (GRCm39) |
intron |
probably benign |
|
R5885:Nipal3
|
UTSW |
4 |
135,199,288 (GRCm39) |
missense |
probably damaging |
0.97 |
R6572:Nipal3
|
UTSW |
4 |
135,174,564 (GRCm39) |
missense |
probably benign |
0.02 |
R6981:Nipal3
|
UTSW |
4 |
135,206,858 (GRCm39) |
missense |
probably damaging |
1.00 |
R7194:Nipal3
|
UTSW |
4 |
135,201,732 (GRCm39) |
missense |
probably benign |
0.26 |
R7537:Nipal3
|
UTSW |
4 |
135,218,248 (GRCm39) |
missense |
probably damaging |
1.00 |
R8018:Nipal3
|
UTSW |
4 |
135,174,659 (GRCm39) |
missense |
possibly damaging |
0.63 |
R8098:Nipal3
|
UTSW |
4 |
135,179,709 (GRCm39) |
missense |
possibly damaging |
0.87 |
R8503:Nipal3
|
UTSW |
4 |
135,206,892 (GRCm39) |
missense |
probably damaging |
1.00 |
R9651:Nipal3
|
UTSW |
4 |
135,174,634 (GRCm39) |
nonsense |
probably null |
|
X0066:Nipal3
|
UTSW |
4 |
135,174,566 (GRCm39) |
missense |
probably benign |
0.02 |
|
Predicted Primers |
PCR Primer
(F):5'- AGCTGTCACCTCCTCTTGAAAG -3'
(R):5'- ACTACTCAGGGCGTCTGTTC -3'
Sequencing Primer
(F):5'- GGACAGGGCTAGAACTCACAC -3'
(R):5'- CAGGGCGTCTGTTCCTTGTTG -3'
|
Posted On |
2015-03-18 |