Incidental Mutation 'IGL02223:Nif3l1'
| ID |
285220 |
| 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 # |
IGL02223
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
1 |
| Chromosomal Location |
58484310-58501435 bp(+) (GRCm39) |
| Type of Mutation |
nonsense |
| DNA Base Change (assembly) |
T to A
at 58487202 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Tyrosine to Stop codon
at position 129
(Y129*)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000127501
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000081677]
[ENSMUST00000087521]
[ENSMUST00000114337]
[ENSMUST00000114345]
[ENSMUST00000114348]
[ENSMUST00000117069]
[ENSMUST00000129759]
[ENSMUST00000151272]
[ENSMUST00000171597]
[ENSMUST00000185990]
[ENSMUST00000190048]
|
| AlphaFold |
Q9EQ80 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000081677
|
| SMART Domains |
Protein: ENSMUSP00000080378
Gene: ENSMUSG00000026035
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Pro_isomerase
|
2 |
154 |
3.9e-53 |
PFAM |
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000087521
AA Change: Y129*
|
| SMART Domains |
Protein: ENSMUSP00000084799
Gene: ENSMUSG00000026036
AA Change: Y129*
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:NIF3
|
31 |
363 |
1.9e-82 |
PFAM |
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000114337
AA Change: Y129*
|
| SMART Domains |
Protein: ENSMUSP00000109976
Gene: ENSMUSG00000026036
AA Change: Y129*
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:NIF3
|
31 |
324 |
4e-61 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000114345
|
| SMART Domains |
Protein: ENSMUSP00000109984
Gene: ENSMUSG00000026035
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Pro_isomerase
|
2 |
120 |
8.5e-45 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000114348
|
| SMART Domains |
Protein: ENSMUSP00000109988
Gene: ENSMUSG00000026035
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Pro_isomerase
|
2 |
154 |
3.9e-53 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000117069
|
| SMART Domains |
Protein: ENSMUSP00000112947
Gene: ENSMUSG00000026035
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Pro_isomerase
|
2 |
154 |
5.2e-54 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000124550
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000129759
AA Change: Y129*
|
| SMART Domains |
Protein: ENSMUSP00000124713
Gene: ENSMUSG00000026036
AA Change: Y129*
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:NIF3
|
31 |
154 |
2e-40 |
PFAM |
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000151272
AA Change: Y129*
|
| SMART Domains |
Protein: ENSMUSP00000123553
Gene: ENSMUSG00000026036
AA Change: Y129*
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:NIF3
|
31 |
131 |
3.1e-34 |
PFAM |
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000171597
AA Change: Y129*
|
| SMART Domains |
Protein: ENSMUSP00000127501
Gene: ENSMUSG00000026036
AA Change: Y129*
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:NIF3
|
31 |
363 |
2.5e-77 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000140723
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000185990
|
| SMART Domains |
Protein: ENSMUSP00000139979
Gene: ENSMUSG00000026035
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Pro_isomerase
|
2 |
90 |
1.1e-26 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000190048
|
| SMART Domains |
Protein: ENSMUSP00000139617
Gene: ENSMUSG00000026035
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Pro_isomerase
|
2 |
91 |
3.1e-27 |
PFAM |
|
| 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: 51 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca17 |
C |
T |
17: 24,506,909 (GRCm39) |
W1148* |
probably null |
Het |
| Adam17 |
A |
G |
12: 21,411,706 (GRCm39) |
S62P |
possibly damaging |
Het |
| Akap8 |
T |
C |
17: 32,535,621 (GRCm39) |
Y131C |
probably damaging |
Het |
| Ccdc169 |
A |
G |
3: 55,049,721 (GRCm39) |
N48S |
probably benign |
Het |
| Ccdc80 |
A |
G |
16: 44,915,966 (GRCm39) |
T241A |
probably damaging |
Het |
| Cct7 |
G |
T |
6: 85,439,023 (GRCm39) |
M112I |
probably benign |
Het |
| Cftr |
G |
A |
6: 18,221,481 (GRCm39) |
A198T |
probably damaging |
Het |
| Crk |
T |
C |
11: 75,594,205 (GRCm39) |
V264A |
probably damaging |
Het |
| Dhx34 |
T |
C |
7: 15,932,584 (GRCm39) |
T1071A |
probably benign |
Het |
| Dlst |
A |
G |
12: 85,177,692 (GRCm39) |
I362V |
probably benign |
Het |
| Fat2 |
T |
C |
11: 55,163,955 (GRCm39) |
E3100G |
probably benign |
Het |
| Fbxo11 |
A |
G |
17: 88,316,714 (GRCm39) |
V323A |
probably benign |
Het |
| Foxe3 |
C |
A |
4: 114,782,906 (GRCm39) |
R102L |
probably damaging |
Het |
| Gale |
T |
C |
4: 135,693,817 (GRCm39) |
F162S |
probably damaging |
Het |
| Gipc2 |
G |
A |
3: 151,833,687 (GRCm39) |
P198L |
probably damaging |
Het |
| Gm5258 |
A |
G |
1: 86,251,118 (GRCm39) |
|
noncoding transcript |
Het |
| Gpatch11 |
A |
G |
17: 79,152,608 (GRCm39) |
T259A |
probably benign |
Het |
| H2-M10.3 |
T |
C |
17: 36,678,972 (GRCm39) |
N32S |
possibly damaging |
Het |
| Hdlbp |
T |
C |
1: 93,340,171 (GRCm39) |
I999V |
probably damaging |
Het |
| Ibtk |
A |
G |
9: 85,592,419 (GRCm39) |
|
probably benign |
Het |
| Ift46 |
A |
G |
9: 44,697,609 (GRCm39) |
S165G |
probably damaging |
Het |
| Igsf1 |
A |
G |
X: 48,873,897 (GRCm39) |
S389P |
probably damaging |
Het |
| Lrrd1 |
A |
C |
5: 3,900,211 (GRCm39) |
N172T |
probably benign |
Het |
| Mamdc2 |
G |
A |
19: 23,336,507 (GRCm39) |
|
probably benign |
Het |
| Matn2 |
A |
G |
15: 34,423,864 (GRCm39) |
N574S |
probably benign |
Het |
| Med1 |
T |
C |
11: 98,048,702 (GRCm39) |
D683G |
probably damaging |
Het |
| Mon1a |
A |
G |
9: 107,778,484 (GRCm39) |
E236G |
probably damaging |
Het |
| Moxd2 |
T |
A |
6: 40,861,967 (GRCm39) |
I202F |
probably damaging |
Het |
| Nlrp5 |
T |
C |
7: 23,129,447 (GRCm39) |
|
probably benign |
Het |
| Odad3 |
G |
A |
9: 21,904,908 (GRCm39) |
R293C |
probably damaging |
Het |
| Or5k14 |
C |
T |
16: 58,693,057 (GRCm39) |
G152E |
probably damaging |
Het |
| Pcx |
T |
C |
19: 4,652,006 (GRCm39) |
Y84H |
probably damaging |
Het |
| Pom121l2 |
T |
C |
13: 22,166,265 (GRCm39) |
S179P |
probably benign |
Het |
| Rexo4 |
C |
A |
2: 26,845,511 (GRCm39) |
C369F |
probably damaging |
Het |
| Rigi |
T |
C |
4: 40,209,993 (GRCm39) |
N692D |
possibly damaging |
Het |
| Scmh1 |
C |
A |
4: 120,372,416 (GRCm39) |
H406Q |
probably benign |
Het |
| Slc12a8 |
A |
G |
16: 33,445,060 (GRCm39) |
D372G |
probably damaging |
Het |
| Snip1 |
T |
C |
4: 124,966,545 (GRCm39) |
F325S |
possibly damaging |
Het |
| Spr-ps1 |
C |
T |
6: 85,132,181 (GRCm39) |
|
noncoding transcript |
Het |
| Stk36 |
A |
G |
1: 74,662,496 (GRCm39) |
Y538C |
possibly damaging |
Het |
| Svil |
A |
G |
18: 5,105,879 (GRCm39) |
|
probably benign |
Het |
| Syne2 |
A |
G |
12: 76,155,079 (GRCm39) |
T6787A |
probably benign |
Het |
| Tbcel |
T |
G |
9: 42,363,014 (GRCm39) |
M10L |
probably benign |
Het |
| Tesk2 |
T |
A |
4: 116,599,022 (GRCm39) |
Y43* |
probably null |
Het |
| Tjp1 |
C |
T |
7: 64,972,349 (GRCm39) |
R605Q |
probably damaging |
Het |
| Tmem65 |
A |
G |
15: 58,662,000 (GRCm39) |
|
probably benign |
Het |
| Tnnt2 |
A |
G |
1: 135,769,753 (GRCm39) |
|
probably benign |
Het |
| Trmt44 |
T |
C |
5: 35,731,989 (GRCm39) |
E134G |
probably benign |
Het |
| Trpv2 |
T |
C |
11: 62,472,081 (GRCm39) |
L91P |
probably benign |
Het |
| Ttn |
G |
A |
2: 76,807,463 (GRCm39) |
T90I |
probably damaging |
Het |
| Yy1 |
A |
G |
12: 108,759,466 (GRCm39) |
E43G |
unknown |
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 |
|
|
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 |
2015-04-16 |
Incidental Mutation