Incidental Mutation 'R1256:Nif3l1'
ID |
151438 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Nif3l1
|
Ensembl Gene |
ENSMUSG00000026036 |
Gene Name |
Ngg1 interacting factor 3-like 1 (S. pombe) |
Synonyms |
1110030G24Rik |
MMRRC Submission |
039323-MU
|
Accession Numbers |
|
Essential gene? |
Possibly non essential
(E-score: 0.399)
|
Stock # |
R1256 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
1 |
Chromosomal Location |
58484310-58501435 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to A
at 58494808 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Valine to Aspartic acid
at position 259
(V259D)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000109976
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000087521]
[ENSMUST00000114337]
[ENSMUST00000171597]
|
AlphaFold |
Q9EQ80 |
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000087521
AA Change: V259D
PolyPhen 2
Score 0.928 (Sensitivity: 0.81; Specificity: 0.94)
|
SMART Domains |
Protein: ENSMUSP00000084799 Gene: ENSMUSG00000026036 AA Change: V259D
Domain | Start | End | E-Value | Type |
Pfam:NIF3
|
31 |
363 |
1.9e-82 |
PFAM |
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000114337
AA Change: V259D
PolyPhen 2
Score 0.992 (Sensitivity: 0.70; Specificity: 0.97)
|
SMART Domains |
Protein: ENSMUSP00000109976 Gene: ENSMUSG00000026036 AA Change: V259D
Domain | Start | End | E-Value | Type |
Pfam:NIF3
|
31 |
324 |
4e-61 |
PFAM |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000140723
|
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000171597
AA Change: V259D
PolyPhen 2
Score 0.928 (Sensitivity: 0.81; Specificity: 0.94)
|
SMART Domains |
Protein: ENSMUSP00000127501 Gene: ENSMUSG00000026036 AA Change: V259D
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 |
- 1x: 99.2%
- 3x: 98.5%
- 10x: 96.9%
- 20x: 94.4%
|
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: 38 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abcb10 |
C |
T |
8: 124,688,791 (GRCm39) |
G495D |
probably damaging |
Het |
Apaf1 |
A |
G |
10: 90,894,268 (GRCm39) |
Y456H |
probably benign |
Het |
Arhgef11 |
A |
G |
3: 87,634,442 (GRCm39) |
N791S |
possibly damaging |
Het |
Brat1 |
A |
G |
5: 140,695,962 (GRCm39) |
Q66R |
possibly damaging |
Het |
Capn10 |
C |
T |
1: 92,874,668 (GRCm39) |
T633M |
probably damaging |
Het |
Ccdc186 |
G |
T |
19: 56,786,053 (GRCm39) |
L661I |
probably benign |
Het |
Cln3 |
A |
G |
7: 126,182,208 (GRCm39) |
S4P |
probably damaging |
Het |
Cnot10 |
G |
T |
9: 114,439,749 (GRCm39) |
S520Y |
probably damaging |
Het |
Csmd1 |
A |
T |
8: 16,129,978 (GRCm39) |
F1715I |
probably damaging |
Het |
Ezh2 |
A |
T |
6: 47,518,789 (GRCm39) |
C545* |
probably null |
Het |
Hivep1 |
C |
T |
13: 42,335,307 (GRCm39) |
S2282F |
probably damaging |
Het |
Jag2 |
T |
C |
12: 112,878,039 (GRCm39) |
E564G |
possibly damaging |
Het |
Kcnj16 |
A |
G |
11: 110,916,262 (GRCm39) |
H308R |
probably damaging |
Het |
Magi3 |
C |
T |
3: 103,935,126 (GRCm39) |
V936I |
probably benign |
Het |
Mcu |
G |
T |
10: 59,290,790 (GRCm39) |
A279E |
probably damaging |
Het |
Msln |
A |
G |
17: 25,973,157 (GRCm39) |
C13R |
probably damaging |
Het |
Nes |
A |
G |
3: 87,883,883 (GRCm39) |
D714G |
probably benign |
Het |
Or4c127 |
A |
T |
2: 89,832,911 (GRCm39) |
M54L |
possibly damaging |
Het |
Or5k14 |
A |
C |
16: 58,693,206 (GRCm39) |
Y102* |
probably null |
Het |
Or8g18 |
G |
C |
9: 39,149,547 (GRCm39) |
P58A |
probably benign |
Het |
Pcdhb9 |
A |
G |
18: 37,536,169 (GRCm39) |
D721G |
possibly damaging |
Het |
Pepd |
A |
C |
7: 34,620,917 (GRCm39) |
T61P |
possibly damaging |
Het |
Pkd1l2 |
C |
T |
8: 117,746,282 (GRCm39) |
|
probably null |
Het |
Poglut3 |
A |
C |
9: 53,299,762 (GRCm39) |
R90S |
possibly damaging |
Het |
Psip1 |
A |
G |
4: 83,392,604 (GRCm39) |
S102P |
probably benign |
Het |
Ralgapa1 |
T |
C |
12: 55,809,446 (GRCm39) |
E443G |
possibly damaging |
Het |
Rnf20 |
A |
G |
4: 49,638,230 (GRCm39) |
D114G |
probably benign |
Het |
Schip1 |
A |
T |
3: 68,402,375 (GRCm39) |
I151F |
probably benign |
Het |
Smarca2 |
A |
G |
19: 26,659,373 (GRCm39) |
I888V |
probably benign |
Het |
Smg1 |
T |
C |
7: 117,802,310 (GRCm39) |
T263A |
probably damaging |
Het |
Spn |
T |
C |
7: 126,735,445 (GRCm39) |
K354R |
possibly damaging |
Het |
Sspo |
G |
A |
6: 48,434,573 (GRCm39) |
A1022T |
probably damaging |
Het |
Strn |
A |
C |
17: 78,972,046 (GRCm39) |
|
probably null |
Het |
Tstd3 |
T |
C |
4: 21,759,627 (GRCm39) |
I79M |
probably damaging |
Het |
Txnl4a |
A |
G |
18: 80,250,487 (GRCm39) |
I28V |
probably benign |
Het |
Uty |
T |
C |
Y: 1,134,884 (GRCm39) |
D928G |
probably damaging |
Het |
Vps26c |
A |
G |
16: 94,313,225 (GRCm39) |
L22P |
probably damaging |
Het |
Vsx2 |
T |
A |
12: 84,623,085 (GRCm39) |
L163Q |
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 |
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 |
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 |
|
|
Predicted Primers |
PCR Primer
(F):5'- GTTCCCCTAATGTAGTGCCTACCTTGAT -3'
(R):5'- CCTGAGCTGCTAACAAGTTCTCTACC -3'
Sequencing Primer
(F):5'- GGCTTGCAATTGAAACTTTAGC -3'
(R):5'- caaacaaacaaacaaaaaaaaccaac -3'
|
Posted On |
2014-01-29 |