Incidental Mutation 'IGL01657:Nif3l1'
| ID |
103052 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Nif3l1
|
| Ensembl Gene |
ENSMUSG00000026036 |
| Gene Name |
Ngg1 interacting factor 3-like 1 (S. pombe) |
| Synonyms |
1110030G24Rik |
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.399)
|
| Stock # |
IGL01657
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
1 |
| Chromosomal Location |
58484310-58501435 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to C
at 58494771 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Proline
at position 247
(T247P)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000109976
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000087521]
[ENSMUST00000114337]
[ENSMUST00000171597]
|
| AlphaFold |
Q9EQ80 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000087521
AA Change: T247P
PolyPhen 2
Score 0.060 (Sensitivity: 0.94; Specificity: 0.84)
|
| SMART Domains |
Protein: ENSMUSP00000084799
Gene: ENSMUSG00000026036
AA Change: T247P
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:NIF3
|
31 |
363 |
1.9e-82 |
PFAM |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000114337
AA Change: T247P
PolyPhen 2
Score 0.984 (Sensitivity: 0.74; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000109976
Gene: ENSMUSG00000026036
AA Change: T247P
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:NIF3
|
31 |
324 |
4e-61 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000140723
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000171597
AA Change: T247P
PolyPhen 2
Score 0.060 (Sensitivity: 0.94; Specificity: 0.84)
|
| SMART Domains |
Protein: ENSMUSP00000127501
Gene: ENSMUSG00000026036
AA Change: T247P
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:NIF3
|
31 |
363 |
2.5e-77 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000185578
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000188295
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: This gene is a member of the NGG1-interacting factor 3-like superfamily of transcriptional regulators and is ubiquitously expressed throughout embryonic development. The encoded protein interacts with a component of the constitutive photomorphogenesis 9 signalosome, and functions as a transcriptional corepressor of genes involved in neuronal differentiation. This gene is highly conserved from bacteria to human. [provided by RefSeq, Sep 2016]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 40 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adgrb3 |
A |
G |
1: 25,865,574 (GRCm39) |
F90L |
probably benign |
Het |
| Anapc4 |
T |
A |
5: 53,021,968 (GRCm39) |
Y683* |
probably null |
Het |
| Astn2 |
T |
G |
4: 65,570,186 (GRCm39) |
D773A |
probably damaging |
Het |
| Atp2b3 |
T |
C |
X: 72,588,966 (GRCm39) |
|
probably benign |
Het |
| Atp8b5 |
T |
C |
4: 43,291,693 (GRCm39) |
M22T |
probably benign |
Het |
| Birc6 |
T |
A |
17: 74,967,606 (GRCm39) |
L4169H |
probably damaging |
Het |
| Cdc42bpa |
T |
C |
1: 179,939,431 (GRCm39) |
V81A |
probably benign |
Het |
| Clcn2 |
A |
T |
16: 20,532,369 (GRCm39) |
C80S |
probably damaging |
Het |
| Clu |
C |
T |
14: 66,217,121 (GRCm39) |
A318V |
possibly damaging |
Het |
| Csnk1g2 |
A |
G |
10: 80,475,463 (GRCm39) |
H378R |
probably benign |
Het |
| Decr2 |
T |
A |
17: 26,301,926 (GRCm39) |
D268V |
probably damaging |
Het |
| Dpp3 |
T |
C |
19: 4,968,332 (GRCm39) |
T247A |
possibly damaging |
Het |
| Eif4g1 |
A |
G |
16: 20,500,966 (GRCm39) |
N774D |
possibly damaging |
Het |
| Epha4 |
A |
T |
1: 77,403,475 (GRCm39) |
V344E |
probably damaging |
Het |
| Epha6 |
A |
C |
16: 59,659,666 (GRCm39) |
N817K |
probably benign |
Het |
| Ggcx |
T |
A |
6: 72,406,941 (GRCm39) |
|
probably null |
Het |
| Gm1965 |
C |
T |
6: 89,123,648 (GRCm39) |
|
noncoding transcript |
Het |
| Gmnn |
T |
C |
13: 24,937,687 (GRCm39) |
E101G |
probably damaging |
Het |
| Grik2 |
C |
T |
10: 49,404,082 (GRCm39) |
|
probably null |
Het |
| H2-M11 |
T |
A |
17: 36,858,465 (GRCm39) |
D86E |
probably benign |
Het |
| Il6st |
T |
A |
13: 112,618,077 (GRCm39) |
W164R |
probably damaging |
Het |
| Ilvbl |
G |
T |
10: 78,412,602 (GRCm39) |
V108L |
possibly damaging |
Het |
| Klk10 |
A |
G |
7: 43,431,013 (GRCm39) |
K19E |
possibly damaging |
Het |
| Mbd4 |
G |
T |
6: 115,826,598 (GRCm39) |
T131N |
probably damaging |
Het |
| Ncapd3 |
T |
C |
9: 26,983,120 (GRCm39) |
V956A |
possibly damaging |
Het |
| Nrcam |
T |
C |
12: 44,606,583 (GRCm39) |
V443A |
probably damaging |
Het |
| Or4c35 |
A |
G |
2: 89,808,221 (GRCm39) |
Y33C |
probably damaging |
Het |
| Pigk |
T |
A |
3: 152,428,157 (GRCm39) |
H61Q |
probably damaging |
Het |
| Pla2g4d |
C |
A |
2: 120,105,768 (GRCm39) |
V431F |
possibly damaging |
Het |
| Pxt1 |
A |
T |
17: 29,153,778 (GRCm39) |
H18Q |
possibly damaging |
Het |
| Rpusd4 |
T |
C |
9: 35,184,757 (GRCm39) |
|
probably benign |
Het |
| Slc22a18 |
T |
G |
7: 143,052,837 (GRCm39) |
L354R |
probably damaging |
Het |
| Slc26a10 |
A |
G |
10: 127,010,903 (GRCm39) |
V443A |
probably damaging |
Het |
| Smpx |
A |
G |
X: 156,497,676 (GRCm39) |
|
probably benign |
Het |
| Sptan1 |
A |
G |
2: 29,908,491 (GRCm39) |
S1751G |
probably benign |
Het |
| Ush2a |
C |
T |
1: 188,558,658 (GRCm39) |
T3629I |
probably benign |
Het |
| Vcan |
C |
T |
13: 89,838,705 (GRCm39) |
V2280M |
probably damaging |
Het |
| Vmn1r30 |
T |
C |
6: 58,412,619 (GRCm39) |
E71G |
probably benign |
Het |
| Vmn2r100 |
A |
T |
17: 19,746,178 (GRCm39) |
I446F |
possibly damaging |
Het |
| Vmn2r75 |
A |
T |
7: 85,813,455 (GRCm39) |
V449D |
probably damaging |
Het |
|
| Other mutations in Nif3l1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00465:Nif3l1
|
APN |
1 |
58,494,845 (GRCm39) |
missense |
possibly damaging |
0.56 |
|
IGL02159:Nif3l1
|
APN |
1 |
58,487,105 (GRCm39) |
splice site |
probably null |
|
|
IGL02223:Nif3l1
|
APN |
1 |
58,487,202 (GRCm39) |
nonsense |
probably null |
|
|
IGL02407:Nif3l1
|
APN |
1 |
58,496,956 (GRCm39) |
missense |
possibly damaging |
0.87 |
|
IGL02435:Nif3l1
|
APN |
1 |
58,487,020 (GRCm39) |
missense |
possibly damaging |
0.91 |
|
IGL02676:Nif3l1
|
APN |
1 |
58,494,895 (GRCm39) |
critical splice donor site |
probably null |
|
|
IGL02721:Nif3l1
|
APN |
1 |
58,497,008 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0472:Nif3l1
|
UTSW |
1 |
58,486,987 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1036:Nif3l1
|
UTSW |
1 |
58,487,032 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1256:Nif3l1
|
UTSW |
1 |
58,494,808 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R1439:Nif3l1
|
UTSW |
1 |
58,487,102 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1483:Nif3l1
|
UTSW |
1 |
58,486,885 (GRCm39) |
missense |
probably benign |
0.01 |
|
R2240:Nif3l1
|
UTSW |
1 |
58,491,288 (GRCm39) |
missense |
probably benign |
0.35 |
|
R4379:Nif3l1
|
UTSW |
1 |
58,494,738 (GRCm39) |
intron |
probably benign |
|
|
R4381:Nif3l1
|
UTSW |
1 |
58,494,738 (GRCm39) |
intron |
probably benign |
|
|
R4552:Nif3l1
|
UTSW |
1 |
58,488,483 (GRCm39) |
unclassified |
probably benign |
|
|
R6524:Nif3l1
|
UTSW |
1 |
58,496,999 (GRCm39) |
missense |
probably benign |
0.01 |
|
R6567:Nif3l1
|
UTSW |
1 |
58,494,789 (GRCm39) |
missense |
probably benign |
0.13 |
|
R6698:Nif3l1
|
UTSW |
1 |
58,489,648 (GRCm39) |
missense |
probably benign |
0.01 |
|
R7254:Nif3l1
|
UTSW |
1 |
58,489,625 (GRCm39) |
missense |
probably benign |
0.01 |
|
R7841:Nif3l1
|
UTSW |
1 |
58,487,042 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8358:Nif3l1
|
UTSW |
1 |
58,491,288 (GRCm39) |
missense |
probably benign |
0.01 |
|
R8903:Nif3l1
|
UTSW |
1 |
58,486,653 (GRCm39) |
unclassified |
probably benign |
|
|
R9057:Nif3l1
|
UTSW |
1 |
58,489,648 (GRCm39) |
missense |
probably benign |
0.01 |
|
R9645:Nif3l1
|
UTSW |
1 |
58,487,074 (GRCm39) |
missense |
probably benign |
|
|
| Posted On |
2014-01-21 |
Incidental Mutation