Incidental Mutation 'IGL02721:Nif3l1'
| ID |
305011 |
| 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 # |
IGL02721
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
1 |
| Chromosomal Location |
58484310-58501435 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 58497008 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Glycine
at position 311
(D311G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000127501
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000027198]
[ENSMUST00000087521]
[ENSMUST00000114337]
[ENSMUST00000171597]
|
| AlphaFold |
Q9EQ80 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000027198
|
| SMART Domains |
Protein: ENSMUSP00000027198
Gene: ENSMUSG00000026037
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
176 |
201 |
N/A |
INTRINSIC |
|
Pfam:ORC2
|
254 |
563 |
2.5e-110 |
PFAM |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000087521
AA Change: D311G
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000084799
Gene: ENSMUSG00000026036
AA Change: D311G
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:NIF3
|
31 |
363 |
1.9e-82 |
PFAM |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000114337
AA Change: D311G
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000109976
Gene: ENSMUSG00000026036
AA Change: D311G
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:NIF3
|
31 |
324 |
4e-61 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000140723
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000171597
AA Change: D311G
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000127501
Gene: ENSMUSG00000026036
AA Change: D311G
| 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: 49 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4930563M21Rik |
T |
A |
9: 55,888,124 (GRCm39) |
I398L |
probably benign |
Het |
| 4931414P19Rik |
A |
G |
14: 54,823,202 (GRCm39) |
S332P |
probably damaging |
Het |
| Abca7 |
T |
C |
10: 79,849,469 (GRCm39) |
S1877P |
possibly damaging |
Het |
| Adora2b |
G |
T |
11: 62,155,931 (GRCm39) |
A127S |
probably damaging |
Het |
| Ahnak |
A |
G |
19: 8,987,071 (GRCm39) |
K2785R |
probably benign |
Het |
| Anapc2 |
G |
A |
2: 25,164,680 (GRCm39) |
W21* |
probably null |
Het |
| Atp7b |
A |
G |
8: 22,512,493 (GRCm39) |
S457P |
probably benign |
Het |
| Catsperb |
A |
G |
12: 101,591,556 (GRCm39) |
Q1046R |
probably null |
Het |
| Comp |
A |
T |
8: 70,828,731 (GRCm39) |
N188Y |
probably damaging |
Het |
| Crnkl1 |
A |
T |
2: 145,765,801 (GRCm39) |
I423K |
possibly damaging |
Het |
| Crtap |
A |
T |
9: 114,210,707 (GRCm39) |
V289E |
probably damaging |
Het |
| Ctnna2 |
T |
C |
6: 76,958,852 (GRCm39) |
N454S |
probably damaging |
Het |
| Dnah5 |
A |
T |
15: 28,234,389 (GRCm39) |
|
probably null |
Het |
| Dstyk |
T |
G |
1: 132,377,054 (GRCm39) |
V220G |
probably benign |
Het |
| E230025N22Rik |
C |
T |
18: 36,828,664 (GRCm39) |
V5M |
probably damaging |
Het |
| Fam111a |
T |
G |
19: 12,564,336 (GRCm39) |
N28K |
probably benign |
Het |
| Fbxo32 |
A |
G |
15: 58,046,358 (GRCm39) |
I284T |
possibly damaging |
Het |
| Fgb |
A |
C |
3: 82,950,674 (GRCm39) |
V360G |
possibly damaging |
Het |
| Gm3404 |
A |
T |
5: 146,463,738 (GRCm39) |
R128* |
probably null |
Het |
| Hal |
G |
T |
10: 93,343,360 (GRCm39) |
G535* |
probably null |
Het |
| Ifna1 |
A |
G |
4: 88,768,523 (GRCm39) |
D67G |
probably benign |
Het |
| Igsf5 |
T |
A |
16: 96,192,222 (GRCm39) |
S274T |
probably damaging |
Het |
| Kdm7a |
C |
T |
6: 39,150,371 (GRCm39) |
A134T |
possibly damaging |
Het |
| Klhl25 |
G |
T |
7: 75,516,648 (GRCm39) |
W518L |
probably damaging |
Het |
| Map1a |
A |
T |
2: 121,134,518 (GRCm39) |
D1778V |
probably benign |
Het |
| Numa1 |
A |
G |
7: 101,649,118 (GRCm39) |
T950A |
probably benign |
Het |
| Nup54 |
A |
T |
5: 92,565,716 (GRCm39) |
I406N |
possibly damaging |
Het |
| Or10ab5 |
G |
T |
7: 108,245,582 (GRCm39) |
S67* |
probably null |
Het |
| Or2y1d |
T |
A |
11: 49,321,468 (GRCm39) |
L55* |
probably null |
Het |
| Or6c210 |
C |
T |
10: 129,495,824 (GRCm39) |
P50S |
probably benign |
Het |
| Or6c211 |
A |
T |
10: 129,505,992 (GRCm39) |
I132N |
probably benign |
Het |
| Pcdhb18 |
T |
A |
18: 37,623,084 (GRCm39) |
M138K |
probably benign |
Het |
| Pik3c2g |
A |
G |
6: 139,682,699 (GRCm39) |
T27A |
probably benign |
Het |
| Plekhb2 |
A |
G |
1: 34,908,445 (GRCm39) |
N163S |
probably benign |
Het |
| Ros1 |
G |
A |
10: 52,048,927 (GRCm39) |
|
probably benign |
Het |
| Sh3gl1 |
A |
G |
17: 56,324,577 (GRCm39) |
L357P |
possibly damaging |
Het |
| Skint5 |
T |
A |
4: 113,799,746 (GRCm39) |
D141V |
probably damaging |
Het |
| Slc10a5 |
A |
G |
3: 10,399,595 (GRCm39) |
V355A |
probably benign |
Het |
| Speer1c |
T |
C |
5: 10,293,883 (GRCm39) |
K106E |
probably damaging |
Het |
| Ssh2 |
G |
T |
11: 77,345,551 (GRCm39) |
G1179* |
probably null |
Het |
| Syde2 |
A |
G |
3: 145,707,759 (GRCm39) |
N566S |
probably damaging |
Het |
| Sytl1 |
T |
C |
4: 132,986,189 (GRCm39) |
R149G |
probably benign |
Het |
| Tnpo2 |
A |
G |
8: 85,781,319 (GRCm39) |
|
probably null |
Het |
| Top2b |
T |
C |
14: 16,409,236 (GRCm38) |
L793P |
probably damaging |
Het |
| U2surp |
T |
A |
9: 95,356,488 (GRCm39) |
E789D |
probably benign |
Het |
| Vps13c |
G |
A |
9: 67,871,431 (GRCm39) |
|
probably benign |
Het |
| Zbtb34 |
C |
T |
2: 33,301,270 (GRCm39) |
G424R |
probably damaging |
Het |
| Zfhx4 |
A |
G |
3: 5,308,367 (GRCm39) |
D531G |
possibly damaging |
Het |
| Zfp787 |
C |
T |
7: 6,135,463 (GRCm39) |
|
probably null |
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 |
|
IGL01657:Nif3l1
|
APN |
1 |
58,494,771 (GRCm39) |
missense |
probably damaging |
0.98 |
|
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 |
|
|
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 |
2015-04-16 |
Incidental Mutation