Incidental Mutation 'R6567:Nif3l1'
| ID |
522719 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Nif3l1
|
| Ensembl Gene |
ENSMUSG00000026036 |
| Gene Name |
Ngg1 interacting factor 3-like 1 (S. pombe) |
| Synonyms |
1110030G24Rik |
| MMRRC Submission |
044691-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.399)
|
| Stock # |
R6567 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
1 |
| Chromosomal Location |
58484310-58501435 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 58494789 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Cysteine to Serine
at position 253
(C253S)
|
| 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: C253S
PolyPhen 2
Score 0.009 (Sensitivity: 0.96; Specificity: 0.77)
|
| SMART Domains |
Protein: ENSMUSP00000084799
Gene: ENSMUSG00000026036
AA Change: C253S
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:NIF3
|
31 |
363 |
1.9e-82 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000114337
AA Change: C253S
PolyPhen 2
Score 0.129 (Sensitivity: 0.93; Specificity: 0.86)
|
| SMART Domains |
Protein: ENSMUSP00000109976
Gene: ENSMUSG00000026036
AA Change: C253S
| 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: C253S
PolyPhen 2
Score 0.009 (Sensitivity: 0.96; Specificity: 0.77)
|
| SMART Domains |
Protein: ENSMUSP00000127501
Gene: ENSMUSG00000026036
AA Change: C253S
| 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 |
0.1601 |
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.4%
- 20x: 98.0%
|
| Validation Efficiency |
100% (32/32) |
| 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: 31 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 9930111J21Rik1 |
T |
C |
11: 48,838,950 (GRCm39) |
T546A |
probably benign |
Het |
| Ahnak |
G |
T |
19: 8,986,170 (GRCm39) |
V2485L |
probably benign |
Het |
| C2cd5 |
T |
C |
6: 142,976,974 (GRCm39) |
I722M |
possibly damaging |
Het |
| Clca4b |
A |
G |
3: 144,638,100 (GRCm39) |
I54T |
possibly damaging |
Het |
| Dennd2c |
C |
T |
3: 103,039,335 (GRCm39) |
A161V |
probably benign |
Het |
| Dmxl1 |
T |
C |
18: 49,992,246 (GRCm39) |
Y331H |
probably damaging |
Het |
| Dnaaf11 |
C |
T |
15: 66,310,228 (GRCm39) |
V347I |
probably benign |
Het |
| Dnajc2 |
G |
A |
5: 21,971,676 (GRCm39) |
R247W |
probably damaging |
Het |
| Dock3 |
T |
C |
9: 106,773,946 (GRCm39) |
T380A |
probably benign |
Het |
| Evc2 |
T |
C |
5: 37,576,508 (GRCm39) |
V1044A |
probably benign |
Het |
| Ints2 |
T |
C |
11: 86,117,487 (GRCm39) |
H745R |
probably benign |
Het |
| Kcnh1 |
T |
A |
1: 191,959,412 (GRCm39) |
M322K |
probably benign |
Het |
| Mmp19 |
A |
G |
10: 128,632,275 (GRCm39) |
T191A |
probably benign |
Het |
| Mms19 |
A |
G |
19: 41,938,206 (GRCm39) |
|
probably null |
Het |
| Mtcl3 |
G |
T |
10: 29,023,279 (GRCm39) |
V209F |
probably benign |
Het |
| Ncapd3 |
T |
C |
9: 26,978,300 (GRCm39) |
I833T |
possibly damaging |
Het |
| Or52e2 |
A |
T |
7: 102,804,135 (GRCm39) |
I273K |
possibly damaging |
Het |
| Pate5 |
T |
A |
9: 35,750,411 (GRCm39) |
Y87F |
probably benign |
Het |
| Pcsk1 |
T |
A |
13: 75,278,189 (GRCm39) |
I584N |
probably damaging |
Het |
| Pms2 |
T |
C |
5: 143,865,786 (GRCm39) |
V50A |
probably damaging |
Het |
| Rptor |
A |
G |
11: 119,786,838 (GRCm39) |
I1268V |
probably benign |
Het |
| Scap |
C |
T |
9: 110,212,630 (GRCm39) |
R1021W |
probably damaging |
Het |
| Sos1 |
A |
T |
17: 80,740,932 (GRCm39) |
Y618N |
probably damaging |
Het |
| Tesk2 |
C |
T |
4: 116,649,361 (GRCm39) |
A157V |
probably damaging |
Het |
| Tm6sf2 |
C |
A |
8: 70,528,174 (GRCm39) |
H108N |
probably damaging |
Het |
| Trank1 |
T |
C |
9: 111,176,589 (GRCm39) |
V287A |
probably benign |
Het |
| Tsks |
A |
T |
7: 44,603,305 (GRCm39) |
Q369L |
probably damaging |
Het |
| Vmn2r58 |
T |
C |
7: 41,514,673 (GRCm39) |
T99A |
probably benign |
Het |
| Wbp11 |
C |
T |
6: 136,797,537 (GRCm39) |
S294N |
probably benign |
Het |
| Zfp608 |
T |
C |
18: 55,030,628 (GRCm39) |
Y1104C |
probably damaging |
Het |
| Zfp759 |
T |
A |
13: 67,287,150 (GRCm39) |
S234T |
probably benign |
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 |
|
|
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 |
|
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'- ATACCTAGGAGGGTGTGAGCTC -3'
(R):5'- TGCTCTGTAAGATCAGGTGTC -3'
Sequencing Primer
(F):5'- GTGTGAGCTCCCAGAAGTTAG -3'
(R):5'- ACTCCAAGAGCTAAGCGA -3'
|
| Posted On |
2018-06-06 |
Incidental Mutation