Incidental Mutation 'R4381:Nif3l1'
ID |
325318 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Nif3l1
|
Ensembl Gene |
ENSMUSG00000026036 |
Gene Name |
Ngg1 interacting factor 3-like 1 (S. pombe) |
Synonyms |
1110030G24Rik |
MMRRC Submission |
041122-MU
|
Accession Numbers |
|
Essential gene? |
Possibly non essential
(E-score: 0.389)
|
Stock # |
R4381 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
1 |
Chromosomal Location |
58484310-58501435 bp(+) (GRCm39) |
Type of Mutation |
intron |
DNA Base Change (assembly) |
A to C
at 58494738 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
|
Ref Sequence |
ENSEMBL: ENSMUSP00000127501
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000087521]
[ENSMUST00000114337]
[ENSMUST00000171597]
|
AlphaFold |
Q9EQ80 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000087521
|
SMART Domains |
Protein: ENSMUSP00000084799 Gene: ENSMUSG00000026036
Domain | Start | End | E-Value | Type |
Pfam:NIF3
|
31 |
363 |
1.9e-82 |
PFAM |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000114337
|
SMART Domains |
Protein: ENSMUSP00000109976 Gene: ENSMUSG00000026036
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
|
SMART Domains |
Protein: ENSMUSP00000127501 Gene: ENSMUSG00000026036
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
|
Meta Mutation Damage Score |
0.0898 |
Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.5%
- 10x: 96.9%
- 20x: 94.1%
|
Validation Efficiency |
95% (41/43) |
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: 33 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Alpk1 |
C |
T |
3: 127,523,022 (GRCm39) |
V7M |
probably damaging |
Het |
Dlgap2 |
A |
G |
8: 14,896,502 (GRCm39) |
I993V |
probably benign |
Het |
Dst |
T |
C |
1: 34,202,316 (GRCm39) |
S215P |
probably damaging |
Het |
Eml5 |
A |
G |
12: 98,782,214 (GRCm39) |
I1359T |
possibly damaging |
Het |
Eps15 |
G |
A |
4: 109,223,727 (GRCm39) |
|
probably benign |
Het |
Gpr158 |
T |
A |
2: 21,832,403 (GRCm39) |
W1168R |
probably damaging |
Het |
Ighv1-62-1 |
T |
A |
12: 115,350,613 (GRCm39) |
H18L |
probably benign |
Het |
Il18r1 |
A |
G |
1: 40,510,950 (GRCm39) |
I12V |
probably benign |
Het |
Klk14 |
G |
A |
7: 43,341,501 (GRCm39) |
C51Y |
probably damaging |
Het |
Mib2 |
G |
C |
4: 155,742,069 (GRCm39) |
A234G |
possibly damaging |
Het |
Mtpap |
T |
C |
18: 4,383,223 (GRCm39) |
F200S |
probably benign |
Het |
Nacad |
T |
A |
11: 6,550,204 (GRCm39) |
T996S |
probably benign |
Het |
Nek9 |
T |
A |
12: 85,376,632 (GRCm39) |
T250S |
probably damaging |
Het |
Nipbl |
A |
G |
15: 8,388,690 (GRCm39) |
V310A |
probably benign |
Het |
Or10al3 |
G |
T |
17: 38,011,790 (GRCm39) |
E76D |
probably damaging |
Het |
Or7g34 |
A |
G |
9: 19,478,038 (GRCm39) |
L211P |
probably benign |
Het |
Pbrm1 |
T |
C |
14: 30,747,513 (GRCm39) |
V33A |
probably benign |
Het |
Pcdha4 |
A |
G |
18: 37,085,928 (GRCm39) |
E37G |
probably damaging |
Het |
Pdgfc |
A |
G |
3: 81,116,558 (GRCm39) |
K304R |
probably damaging |
Het |
Peak1 |
G |
T |
9: 56,165,711 (GRCm39) |
A739E |
probably benign |
Het |
Pla2g4c |
A |
T |
7: 13,079,990 (GRCm39) |
N433Y |
probably damaging |
Het |
Polrmt |
A |
C |
10: 79,577,642 (GRCm39) |
L319R |
possibly damaging |
Het |
Prkaa1 |
A |
T |
15: 5,206,289 (GRCm39) |
T373S |
probably benign |
Het |
Qars1 |
G |
A |
9: 108,387,382 (GRCm39) |
|
probably benign |
Het |
Ranbp1 |
G |
A |
16: 18,065,208 (GRCm39) |
L33F |
probably damaging |
Het |
Rpgrip1 |
C |
T |
14: 52,387,906 (GRCm39) |
P1094L |
possibly damaging |
Het |
Taf1d |
T |
A |
9: 15,223,277 (GRCm39) |
|
probably benign |
Het |
Tstd2 |
T |
C |
4: 46,119,933 (GRCm39) |
K340E |
probably benign |
Het |
Vmn2r45 |
A |
T |
7: 8,474,912 (GRCm39) |
C705* |
probably null |
Het |
Vrk3 |
C |
T |
7: 44,424,866 (GRCm39) |
T427M |
probably benign |
Het |
Zdhhc16 |
A |
G |
19: 41,929,093 (GRCm39) |
Y232C |
possibly damaging |
Het |
Zfp1 |
T |
A |
8: 112,397,083 (GRCm39) |
L354Q |
probably damaging |
Het |
Zyg11a |
G |
A |
4: 108,058,517 (GRCm39) |
A341V |
possibly 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 |
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 |
|
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 |
|
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 |
|
|
Predicted Primers |
PCR Primer
(F):5'- CCCTAATGTAGTGCCTACCTTG -3'
(R):5'- GTCCAAAGTCACAGTATATCTACCAG -3'
Sequencing Primer
(F):5'- GTAGTGCCTACCTTGATTTAAGAAAC -3'
(R):5'- AGTCACAGTATATCTACCAGATGATG -3'
|
Posted On |
2015-07-06 |