Incidental Mutation 'R5758:Nipal3'
| ID |
445134 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Nipal3
|
| Ensembl Gene |
ENSMUSG00000028803 |
| Gene Name |
NIPA-like domain containing 3 |
| Synonyms |
Npal3, 9130020G22Rik |
| MMRRC Submission |
043203-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.075)
|
| Stock # |
R5758 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
4 |
| Chromosomal Location |
135173454-135222283 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 135179874 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Glycine
at position 348
(D348G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000099608
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000102549]
[ENSMUST00000105856]
[ENSMUST00000183807]
|
| AlphaFold |
Q8BGN5 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000102549
AA Change: D348G
PolyPhen 2
Score 0.018 (Sensitivity: 0.95; Specificity: 0.80)
|
| SMART Domains |
Protein: ENSMUSP00000099608
Gene: ENSMUSG00000028803
AA Change: D348G
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Mg_trans_NIPA
|
33 |
333 |
5e-75 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000105856
|
| SMART Domains |
Protein: ENSMUSP00000101482
Gene: ENSMUSG00000028803
| 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 |
noncoding transcript
Transcript: ENSMUST00000148023
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000183397
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000183807
|
| SMART Domains |
Protein: ENSMUSP00000139088
Gene: ENSMUSG00000028803
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Mg_trans_NIPA
|
33 |
333 |
3.8e-75 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000194277
|
| Coding Region Coverage |
- 1x: 99.5%
- 3x: 98.8%
- 10x: 97.4%
- 20x: 95.5%
|
| Validation Efficiency |
|
| 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: 43 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca13 |
A |
G |
11: 9,264,536 (GRCm39) |
N2973D |
probably damaging |
Het |
| Acan |
A |
T |
7: 78,750,962 (GRCm39) |
E1911V |
possibly damaging |
Het |
| Adamts20 |
T |
C |
15: 94,292,531 (GRCm39) |
N193S |
probably benign |
Het |
| Arhgap28 |
T |
C |
17: 68,180,154 (GRCm39) |
D81G |
probably benign |
Het |
| Calhm3 |
A |
G |
19: 47,140,190 (GRCm39) |
V301A |
probably damaging |
Het |
| Celsr1 |
C |
T |
15: 85,825,465 (GRCm39) |
G1556D |
probably benign |
Het |
| Cfap221 |
A |
G |
1: 119,862,288 (GRCm39) |
L598P |
probably benign |
Het |
| Col6a6 |
T |
C |
9: 105,638,717 (GRCm39) |
|
probably null |
Het |
| Dmxl2 |
T |
A |
9: 54,380,248 (GRCm39) |
I142F |
probably benign |
Het |
| Dpy19l4 |
C |
T |
4: 11,276,886 (GRCm39) |
V338M |
probably damaging |
Het |
| Dpys |
A |
C |
15: 39,690,395 (GRCm39) |
D319E |
possibly damaging |
Het |
| Dsc3 |
A |
G |
18: 20,122,591 (GRCm39) |
V111A |
probably damaging |
Het |
| Galnt5 |
T |
C |
2: 57,888,442 (GRCm39) |
V14A |
probably benign |
Het |
| Hebp2 |
C |
A |
10: 18,420,155 (GRCm39) |
V93L |
probably damaging |
Het |
| Igkv8-21 |
A |
T |
6: 70,292,009 (GRCm39) |
S78T |
possibly damaging |
Het |
| Jak2 |
T |
A |
19: 29,287,043 (GRCm39) |
D1036E |
probably damaging |
Het |
| Kazn |
A |
G |
4: 141,868,982 (GRCm39) |
|
probably null |
Het |
| Kif9 |
T |
C |
9: 110,318,947 (GRCm39) |
V143A |
probably damaging |
Het |
| Lhcgr |
T |
C |
17: 89,049,976 (GRCm39) |
I517V |
probably damaging |
Het |
| Llgl1 |
T |
C |
11: 60,599,393 (GRCm39) |
F458S |
probably damaging |
Het |
| Mrgprb3 |
C |
A |
7: 48,293,067 (GRCm39) |
M161I |
probably benign |
Het |
| Muc5b |
A |
T |
7: 141,412,720 (GRCm39) |
I1889F |
unknown |
Het |
| Mysm1 |
A |
G |
4: 94,840,598 (GRCm39) |
V606A |
probably damaging |
Het |
| Olfml2b |
G |
A |
1: 170,496,833 (GRCm39) |
|
probably null |
Het |
| Or5p5 |
T |
C |
7: 107,414,022 (GRCm39) |
V77A |
probably damaging |
Het |
| Or5p72 |
T |
A |
7: 108,022,369 (GRCm39) |
V197D |
probably benign |
Het |
| Orc5 |
T |
C |
5: 22,734,256 (GRCm39) |
D176G |
possibly damaging |
Het |
| Rapgef6 |
A |
G |
11: 54,559,470 (GRCm39) |
N1041S |
probably damaging |
Het |
| Ryr3 |
G |
A |
2: 112,672,320 (GRCm39) |
R1384C |
probably damaging |
Het |
| Sar1a |
A |
G |
10: 61,520,851 (GRCm39) |
Y22C |
probably benign |
Het |
| Shcbp1 |
T |
C |
8: 4,799,355 (GRCm39) |
|
probably null |
Het |
| Smim17 |
C |
T |
7: 6,427,788 (GRCm39) |
H25Y |
possibly damaging |
Het |
| Tcstv7a |
T |
C |
13: 120,289,791 (GRCm39) |
D135G |
probably damaging |
Het |
| Trim10 |
C |
T |
17: 37,188,044 (GRCm39) |
T420I |
possibly damaging |
Het |
| Trip13 |
G |
T |
13: 74,085,614 (GRCm39) |
S29R |
probably benign |
Het |
| Tubgcp5 |
C |
T |
7: 55,468,643 (GRCm39) |
R713C |
probably damaging |
Het |
| Uckl1 |
C |
A |
2: 181,211,746 (GRCm39) |
G420C |
probably damaging |
Het |
| Vangl1 |
A |
T |
3: 102,091,408 (GRCm39) |
V226D |
probably damaging |
Het |
| Zdhhc17 |
A |
G |
10: 110,780,256 (GRCm39) |
*633Q |
probably null |
Het |
| Zfhx4 |
A |
G |
3: 5,467,680 (GRCm39) |
K2613E |
probably damaging |
Het |
| Zfp236 |
G |
A |
18: 82,689,834 (GRCm39) |
T215M |
probably damaging |
Het |
| Zfp563 |
A |
G |
17: 33,323,894 (GRCm39) |
H163R |
probably damaging |
Het |
| Zfp703 |
C |
T |
8: 27,469,233 (GRCm39) |
P299L |
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 |
|
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 |
|
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 |
|
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'- TTCTTGGTGTGCTCCAGGAC -3'
(R):5'- TATTTCAGCAACGTGGCATCTAG -3'
Sequencing Primer
(F):5'- TGCTCCAGGACGCGGTAG -3'
(R):5'- ACACCTAGGCACCGTGTTCTG -3'
|
| Posted On |
2016-11-21 |
Incidental Mutation