Incidental Mutation 'R4552:Nif3l1'
| ID |
333990 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Nif3l1
|
| Ensembl Gene |
ENSMUSG00000026036 |
| Gene Name |
Ngg1 interacting factor 3-like 1 (S. pombe) |
| Synonyms |
1110030G24Rik |
| MMRRC Submission |
041783-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.399)
|
| Stock # |
R4552 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
1 |
| Chromosomal Location |
58484310-58501435 bp(+) (GRCm39) |
| Type of Mutation |
unclassified |
| DNA Base Change (assembly) |
C to T
at 58488483 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000139617
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000081677]
[ENSMUST00000087521]
[ENSMUST00000114337]
[ENSMUST00000114345]
[ENSMUST00000114348]
[ENSMUST00000117069]
[ENSMUST00000185990]
[ENSMUST00000171597]
[ENSMUST00000190048]
[ENSMUST00000129759]
[ENSMUST00000151272]
|
| 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 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 |
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 |
noncoding transcript
Transcript: ENSMUST00000140723
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000185578
|
| 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: ENSMUST00000171597
|
| SMART Domains |
Protein: ENSMUSP00000127501
Gene: ENSMUSG00000026036
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:NIF3
|
31 |
363 |
2.5e-77 |
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 |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000129759
|
| SMART Domains |
Protein: ENSMUSP00000124713
Gene: ENSMUSG00000026036
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:NIF3
|
31 |
154 |
2e-40 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000151272
|
| SMART Domains |
Protein: ENSMUSP00000123553
Gene: ENSMUSG00000026036
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:NIF3
|
31 |
131 |
3.1e-34 |
PFAM |
|
| Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.5%
- 10x: 96.9%
- 20x: 94.4%
|
| Validation Efficiency |
97% (62/64) |
| 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: 53 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adamts16 |
G |
A |
13: 70,927,637 (GRCm39) |
|
probably benign |
Het |
| Arhgap33 |
A |
T |
7: 30,218,533 (GRCm39) |
|
probably benign |
Het |
| Arid1a |
A |
C |
4: 133,423,010 (GRCm39) |
|
probably benign |
Het |
| C4bp |
A |
G |
1: 130,564,464 (GRCm39) |
Y407H |
possibly damaging |
Het |
| Camta1 |
T |
C |
4: 151,876,959 (GRCm39) |
R79G |
probably damaging |
Het |
| Caskin1 |
G |
A |
17: 24,725,602 (GRCm39) |
S1296N |
probably benign |
Het |
| Cep128 |
T |
C |
12: 91,260,936 (GRCm39) |
E309G |
probably damaging |
Het |
| Chit1 |
A |
G |
1: 134,071,789 (GRCm39) |
T100A |
probably benign |
Het |
| Dalrd3 |
A |
G |
9: 108,449,429 (GRCm39) |
D454G |
possibly damaging |
Het |
| Ddx19a |
G |
A |
8: 111,705,198 (GRCm39) |
Q308* |
probably null |
Het |
| Dmxl2 |
T |
C |
9: 54,359,047 (GRCm39) |
N395S |
probably damaging |
Het |
| Dnah17 |
T |
C |
11: 117,943,769 (GRCm39) |
D3125G |
possibly damaging |
Het |
| Dnah5 |
T |
C |
15: 28,397,300 (GRCm39) |
V3331A |
probably benign |
Het |
| Dnah9 |
T |
C |
11: 65,732,192 (GRCm39) |
E4238G |
probably damaging |
Het |
| Dner |
T |
C |
1: 84,361,578 (GRCm39) |
Y677C |
probably damaging |
Het |
| Epgn |
A |
T |
5: 91,175,421 (GRCm39) |
K14* |
probably null |
Het |
| Hid1 |
G |
A |
11: 115,249,505 (GRCm39) |
T240M |
possibly damaging |
Het |
| Igbp1b |
T |
A |
6: 138,635,112 (GRCm39) |
M111L |
probably benign |
Het |
| Kif26b |
T |
A |
1: 178,711,600 (GRCm39) |
I740N |
probably damaging |
Het |
| Klk4 |
C |
A |
7: 43,533,443 (GRCm39) |
H101N |
probably benign |
Het |
| Mrgpra2b |
C |
A |
7: 47,113,754 (GRCm39) |
S300I |
probably benign |
Het |
| Mtss2 |
A |
G |
8: 111,465,137 (GRCm39) |
T464A |
probably damaging |
Het |
| Nbas |
T |
C |
12: 13,385,938 (GRCm39) |
|
probably null |
Het |
| Noct |
T |
A |
3: 51,157,589 (GRCm39) |
I309N |
probably benign |
Het |
| Obscn |
T |
C |
11: 59,022,472 (GRCm39) |
R758G |
possibly damaging |
Het |
| Odf2l |
A |
T |
3: 144,856,844 (GRCm39) |
T600S |
probably benign |
Het |
| Odf4 |
C |
T |
11: 68,812,866 (GRCm39) |
S264N |
probably benign |
Het |
| Or13a17 |
A |
T |
7: 140,271,655 (GRCm39) |
Y279F |
probably damaging |
Het |
| Or1m1 |
A |
G |
9: 18,666,430 (GRCm39) |
V167A |
possibly damaging |
Het |
| Or2y1e |
A |
T |
11: 49,218,777 (GRCm39) |
M180L |
probably benign |
Het |
| Or6c217 |
T |
C |
10: 129,737,992 (GRCm39) |
M196V |
probably benign |
Het |
| Papolb |
T |
C |
5: 142,514,933 (GRCm39) |
I237V |
probably benign |
Het |
| Parpbp |
T |
A |
10: 87,929,564 (GRCm39) |
Q428L |
possibly damaging |
Het |
| Pclo |
T |
C |
5: 14,719,285 (GRCm39) |
S1141P |
unknown |
Het |
| Plcb1 |
T |
C |
2: 135,177,413 (GRCm39) |
S582P |
probably benign |
Het |
| Ppargc1a |
C |
T |
5: 51,620,557 (GRCm39) |
|
probably benign |
Het |
| Ptchd4 |
A |
T |
17: 42,813,346 (GRCm39) |
I416L |
probably benign |
Het |
| Rhpn1 |
G |
A |
15: 75,585,968 (GRCm39) |
R627H |
probably benign |
Het |
| Ric8a |
G |
A |
7: 140,441,250 (GRCm39) |
G182S |
probably damaging |
Het |
| Rims1 |
T |
C |
1: 22,443,718 (GRCm39) |
D895G |
probably damaging |
Het |
| Rrp1b |
G |
A |
17: 32,274,984 (GRCm39) |
|
probably benign |
Het |
| Rtf1 |
T |
A |
2: 119,561,210 (GRCm39) |
D636E |
probably benign |
Het |
| Scn3a |
T |
C |
2: 65,354,523 (GRCm39) |
D333G |
probably benign |
Het |
| Sema6a |
A |
G |
18: 47,424,990 (GRCm39) |
L207P |
probably damaging |
Het |
| Shcbp1 |
A |
T |
8: 4,799,779 (GRCm39) |
Y160* |
probably null |
Het |
| Slc27a1 |
A |
T |
8: 72,032,710 (GRCm39) |
|
probably null |
Het |
| Ston2 |
C |
T |
12: 91,608,646 (GRCm39) |
R818Q |
probably damaging |
Het |
| Tipin |
T |
A |
9: 64,195,385 (GRCm39) |
|
probably null |
Het |
| Tjap1 |
A |
T |
17: 46,570,953 (GRCm39) |
|
probably null |
Het |
| Vmn1r117 |
A |
T |
7: 20,617,517 (GRCm39) |
F177Y |
probably damaging |
Het |
| Vmn1r57 |
A |
G |
7: 5,223,667 (GRCm39) |
D64G |
possibly damaging |
Het |
| Vmn2r73 |
T |
A |
7: 85,525,055 (GRCm39) |
D31V |
probably benign |
Het |
| Vmn2r-ps41 |
A |
T |
7: 9,180,063 (GRCm39) |
|
noncoding transcript |
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 |
|
|
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'- GGAAACAAACCATGGAACGTTT -3'
(R):5'- CCTTCTAGCAGTAAGGTGGG -3'
Sequencing Primer
(F):5'- GGCCTTCAACTCTATAGAGGACTG -3'
(R):5'- TGAGTTCAGTTCCAGAAGCC -3'
|
| Posted On |
2015-08-18 |
Incidental Mutation