Incidental Mutation 'R2923:Nipal3'
ID |
255613 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Nipal3
|
Ensembl Gene |
ENSMUSG00000028803 |
Gene Name |
NIPA-like domain containing 3 |
Synonyms |
Npal3, 9130020G22Rik |
MMRRC Submission |
040508-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.075)
|
Stock # |
R2923 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
4 |
Chromosomal Location |
135173454-135222283 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to T
at 135204776 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Isoleucine to Asparagine
at position 125
(I125N)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000139088
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000102549]
[ENSMUST00000105856]
[ENSMUST00000145020]
[ENSMUST00000183807]
|
AlphaFold |
Q8BGN5 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000102549
AA Change: I125N
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000099608 Gene: ENSMUSG00000028803 AA Change: I125N
Domain | Start | End | E-Value | Type |
Pfam:Mg_trans_NIPA
|
33 |
333 |
5e-75 |
PFAM |
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000105856
AA Change: I125N
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000101482 Gene: ENSMUSG00000028803 AA Change: I125N
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 |
probably benign
Transcript: ENSMUST00000140982
|
SMART Domains |
Protein: ENSMUSP00000118178 Gene: ENSMUSG00000028803
Domain | Start | End | E-Value | Type |
Pfam:Mg_trans_NIPA
|
1 |
190 |
1.2e-47 |
PFAM |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000145020
|
SMART Domains |
Protein: ENSMUSP00000118122 Gene: ENSMUSG00000028803
Domain | Start | End | E-Value | Type |
Pfam:Mg_trans_NIPA
|
33 |
107 |
4.7e-19 |
PFAM |
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000183807
AA Change: I125N
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000139088 Gene: ENSMUSG00000028803 AA Change: I125N
Domain | Start | End | E-Value | Type |
Pfam:Mg_trans_NIPA
|
33 |
333 |
3.8e-75 |
PFAM |
|
Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.5%
- 20x: 95.6%
|
Validation Efficiency |
98% (46/47) |
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: 46 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Adam4 |
A |
T |
12: 81,467,518 (GRCm39) |
C368S |
probably damaging |
Het |
Adamts3 |
T |
C |
5: 90,009,393 (GRCm39) |
D90G |
possibly damaging |
Het |
Astn2 |
T |
C |
4: 65,832,010 (GRCm39) |
Y500C |
probably damaging |
Het |
Atp12a |
A |
T |
14: 56,612,079 (GRCm39) |
T418S |
probably benign |
Het |
Atp6v0a2 |
C |
T |
5: 124,794,981 (GRCm39) |
T656M |
possibly damaging |
Het |
Camsap2 |
G |
A |
1: 136,208,547 (GRCm39) |
P971S |
possibly damaging |
Het |
Ccdc116 |
T |
C |
16: 16,960,307 (GRCm39) |
H170R |
probably benign |
Het |
Ccn5 |
G |
A |
2: 163,674,266 (GRCm39) |
R222Q |
probably benign |
Het |
Cemip2 |
A |
G |
19: 21,795,303 (GRCm39) |
D732G |
possibly damaging |
Het |
Clpb |
A |
G |
7: 101,372,035 (GRCm39) |
D257G |
probably benign |
Het |
Cpb2 |
T |
C |
14: 75,493,473 (GRCm39) |
|
probably null |
Het |
D430041D05Rik |
G |
A |
2: 104,085,660 (GRCm39) |
T164I |
possibly damaging |
Het |
Dhx40 |
T |
G |
11: 86,680,089 (GRCm39) |
Q416P |
probably benign |
Het |
Dnah17 |
A |
G |
11: 117,984,373 (GRCm39) |
F1636S |
probably damaging |
Het |
Fhl3 |
T |
C |
4: 124,599,463 (GRCm39) |
S13P |
probably damaging |
Het |
Gapvd1 |
A |
T |
2: 34,578,875 (GRCm39) |
I1249N |
probably damaging |
Het |
Gm10604 |
C |
T |
4: 11,980,122 (GRCm39) |
A61T |
unknown |
Het |
Gm20939 |
T |
A |
17: 95,184,721 (GRCm39) |
H456Q |
probably damaging |
Het |
Golga4 |
T |
A |
9: 118,388,411 (GRCm39) |
S1844R |
possibly damaging |
Het |
Grm6 |
G |
C |
11: 50,755,348 (GRCm39) |
G827R |
probably damaging |
Het |
Grm7 |
T |
A |
6: 111,472,866 (GRCm39) |
|
probably null |
Het |
Hdc |
G |
A |
2: 126,435,910 (GRCm39) |
P654S |
probably damaging |
Het |
Hoxb1 |
T |
C |
11: 96,257,119 (GRCm39) |
L156P |
probably benign |
Het |
Ipo9 |
G |
T |
1: 135,327,867 (GRCm39) |
Q515K |
probably benign |
Het |
Kcnk3 |
T |
C |
5: 30,779,414 (GRCm39) |
S155P |
probably damaging |
Het |
Mboat2 |
T |
A |
12: 25,004,239 (GRCm39) |
W347R |
probably damaging |
Het |
Mib1 |
C |
T |
18: 10,760,831 (GRCm39) |
Q374* |
probably null |
Het |
Ncor2 |
A |
G |
5: 125,132,855 (GRCm39) |
F44S |
probably damaging |
Het |
Or4c113 |
A |
G |
2: 88,884,843 (GRCm39) |
V309A |
probably benign |
Het |
Or51a43 |
A |
G |
7: 103,717,794 (GRCm39) |
V148A |
probably benign |
Het |
Ovch2 |
A |
G |
7: 107,389,596 (GRCm39) |
L317P |
possibly damaging |
Het |
Pnpla2 |
T |
A |
7: 141,035,380 (GRCm39) |
C61S |
probably benign |
Het |
Ppp1r16b |
G |
T |
2: 158,598,877 (GRCm39) |
L312F |
probably damaging |
Het |
Rdm1 |
T |
A |
11: 101,521,716 (GRCm39) |
L157H |
possibly damaging |
Het |
Rpl22 |
C |
A |
4: 152,412,002 (GRCm39) |
T26N |
possibly damaging |
Het |
Rptn |
A |
G |
3: 93,306,015 (GRCm39) |
Y1116C |
possibly damaging |
Het |
Serpinb5 |
G |
A |
1: 106,803,770 (GRCm39) |
S152N |
probably benign |
Het |
Setx |
GTGGCT |
GT |
2: 29,044,073 (GRCm39) |
1814 |
probably null |
Het |
St8sia1 |
A |
T |
6: 142,774,963 (GRCm39) |
F205L |
probably damaging |
Het |
Stab2 |
A |
G |
10: 86,697,325 (GRCm39) |
Y1988H |
probably damaging |
Het |
Susd3 |
A |
T |
13: 49,401,945 (GRCm39) |
M1K |
probably null |
Het |
Syne3 |
A |
T |
12: 104,934,343 (GRCm39) |
L55Q |
probably damaging |
Het |
Tmx1 |
T |
A |
12: 70,512,895 (GRCm39) |
C268S |
probably benign |
Het |
Ttll1 |
T |
C |
15: 83,376,760 (GRCm39) |
K321R |
probably damaging |
Het |
Zdhhc18 |
G |
T |
4: 133,360,455 (GRCm39) |
H82Q |
probably benign |
Het |
Zhx1 |
T |
C |
15: 57,917,077 (GRCm39) |
I390V |
probably damaging |
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 |
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 |
R3734: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'- CAATTCTGATGGGTAGCTGGGC -3'
(R):5'- CACAGAAGGCTCTAGAAGGTC -3'
Sequencing Primer
(F):5'- GCTTGGGTTATTTAATGTTAACATCC -3'
(R):5'- GAAGGCTCTAGAAGGTCCCCAC -3'
|
Posted On |
2014-12-29 |