Incidental Mutation 'IGL03128:Nfic'
| ID | 410226 |
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| Institutional Source |
Australian Phenomics Network
(link to record)
|
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| Gene Symbol |
Nfic
|
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| Ensembl Gene |
ENSMUSG00000055053 |
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| Gene Name | nuclear factor I/C |
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| Synonyms | nuclear factor 1-C2, 1110019L22Rik, NF1-C, 1500041O16Rik |
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| Accession Numbers | |
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| Is this an essential gene? |
Possibly non essential (E-score: 0.475)
|
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| Stock # | IGL03128
|
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| Quality Score | |
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| Status |
|
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| Chromosome | 10 |
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| Chromosomal Location | 81396186-81455635 bp(-) (GRCm38) |
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| Type of Mutation | missense |
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| DNA Base Change (assembly) |
T to C
at 81406191 bp
|
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| Zygosity | Heterozygous |
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| Amino Acid Change |
Threonine to Alanine
at position 328
(T328A)
|
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| Ref Sequence |
ENSEMBL: ENSMUSP00000100958
(fasta)
|
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| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000020461]
[ENSMUST00000078185]
[ENSMUST00000105321]
[ENSMUST00000117966]
[ENSMUST00000221817]
|
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| Predicted Effect |
probably benign
Transcript: ENSMUST00000020461
AA Change: T328A
PolyPhen 2
Score 0.206 (Sensitivity: 0.92; Specificity: 0.88)
|
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| SMART Domains |
Protein: ENSMUSP00000020461
Gene: ENSMUSG00000055053
AA Change: T328A
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:NfI_DNAbd_pre-N
|
7 |
47 |
4.6e-30 |
PFAM |
|
DWA
|
68 |
176 |
5.77e-24 |
SMART |
|
Pfam:CTF_NFI
|
217 |
428 |
2e-107 |
PFAM |
|
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| Predicted Effect |
probably benign
Transcript: ENSMUST00000078185
|
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| SMART Domains |
Protein: ENSMUSP00000077317
Gene: ENSMUSG00000055053
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:NfI_DNAbd_pre-N
|
4 |
47 |
9.5e-31 |
PFAM |
|
DWA
|
68 |
176 |
5.77e-24 |
SMART |
|
Pfam:CTF_NFI
|
217 |
323 |
1.4e-52 |
PFAM |
|
Pfam:CTF_NFI
|
316 |
387 |
1.7e-29 |
PFAM |
|
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| Predicted Effect |
probably benign
Transcript: ENSMUST00000105321
AA Change: T328A
PolyPhen 2
Score 0.206 (Sensitivity: 0.92; Specificity: 0.88)
|
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| SMART Domains |
Protein: ENSMUSP00000100958
Gene: ENSMUSG00000055053
AA Change: T328A
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:NfI_DNAbd_pre-N
|
4 |
47 |
8e-31 |
PFAM |
|
DWA
|
68 |
176 |
5.77e-24 |
SMART |
|
Pfam:CTF_NFI
|
217 |
426 |
5.2e-106 |
PFAM |
|
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| Predicted Effect |
probably benign
Transcript: ENSMUST00000117966
AA Change: T319A
PolyPhen 2
Score 0.006 (Sensitivity: 0.97; Specificity: 0.75)
|
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| SMART Domains |
Protein: ENSMUSP00000113046
Gene: ENSMUSG00000055053
AA Change: T319A
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:NfI_DNAbd_pre-N
|
1 |
38 |
1.3e-27 |
PFAM |
|
DWA
|
59 |
167 |
5.77e-24 |
SMART |
|
Pfam:CTF_NFI
|
208 |
421 |
1.9e-106 |
PFAM |
|
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| Predicted Effect |
probably benign
Transcript: ENSMUST00000140916
|
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| SMART Domains |
Protein: ENSMUSP00000114469
Gene: ENSMUSG00000055053
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:CTF_NFI
|
1 |
33 |
5.9e-12 |
PFAM |
|
Pfam:CTF_NFI
|
29 |
93 |
1.3e-29 |
PFAM |
|
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| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000156260
|
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| Predicted Effect |
probably benign
Transcript: ENSMUST00000221817
AA Change: T350A
PolyPhen 2
Score 0.006 (Sensitivity: 0.97; Specificity: 0.75)
|
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| Coding Region Coverage |
|
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| Validation Efficiency |
|
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| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene belongs to the CTF/NF-I family. These are dimeric DNA-binding proteins, and function as cellular transcription factors and as replication factors for adenovirus DNA replication. Alternatively spliced transcript variants encoding different isoforms have been described for this gene. [provided by RefSeq, Oct 2011]
PHENOTYPE: Mice homozygous for a targeted null allele have abnormal incisor and molar root development, show reduced alveolar bone formation, and exhibit impaired feeding leading to severe runting and premature death when reared on standard laboratory chow. [provided by MGI curators]
|
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| Allele List at MGI | |
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| Other mutations in this stock |
Total: 28 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acox1 |
A |
T |
11: 116,182,003 |
L114M |
probably damaging |
Het |
| Bahcc1 |
G |
A |
11: 120,268,434 |
|
probably benign |
Het |
| Btrc |
T |
A |
19: 45,513,520 |
I226N |
probably damaging |
Het |
| Cth |
C |
T |
3: 157,921,035 |
G56D |
probably damaging |
Het |
| Dkk2 |
T |
C |
3: 132,177,860 |
|
probably benign |
Het |
| Dock3 |
A |
T |
9: 107,032,292 |
M271K |
probably benign |
Het |
| Fam78b |
T |
A |
1: 167,078,941 |
L223Q |
probably damaging |
Het |
| Fgl2 |
A |
T |
5: 21,373,293 |
M193L |
probably benign |
Het |
| Ifi205 |
A |
T |
1: 174,015,086 |
V348E |
probably damaging |
Het |
| Igkv4-70 |
T |
A |
6: 69,268,014 |
K74N |
probably benign |
Het |
| Kdm3b |
A |
T |
18: 34,827,427 |
K1355M |
probably damaging |
Het |
| Ltn1 |
A |
T |
16: 87,415,944 |
N576K |
probably benign |
Het |
| Ms4a4c |
A |
T |
19: 11,417,641 |
|
probably null |
Het |
| Npat |
T |
A |
9: 53,550,033 |
|
probably benign |
Het |
| Nxpe2 |
T |
C |
9: 48,319,498 |
I524V |
probably benign |
Het |
| Orc5 |
G |
T |
5: 22,516,773 |
D360E |
probably damaging |
Het |
| Pappa2 |
C |
T |
1: 158,936,484 |
E486K |
probably benign |
Het |
| Pde9a |
C |
T |
17: 31,459,910 |
H216Y |
possibly damaging |
Het |
| Polr2k |
C |
A |
15: 36,174,191 |
P31Q |
probably damaging |
Het |
| Prkdc |
G |
T |
16: 15,700,744 |
|
probably benign |
Het |
| Raver1 |
A |
T |
9: 21,080,742 |
L385Q |
probably damaging |
Het |
| Slc10a7 |
C |
A |
8: 78,525,217 |
T80K |
probably damaging |
Het |
| Smg1 |
T |
C |
7: 118,203,059 |
K272R |
probably benign |
Het |
| Supt20 |
A |
G |
3: 54,708,287 |
I200V |
probably benign |
Het |
| Tbc1d9 |
A |
G |
8: 83,166,085 |
N4S |
probably benign |
Het |
| Tor1aip1 |
A |
G |
1: 156,007,035 |
S356P |
probably damaging |
Het |
| Trpm3 |
A |
G |
19: 22,914,465 |
Y903C |
probably damaging |
Het |
| Vmn2r71 |
T |
G |
7: 85,619,587 |
F333V |
probably damaging |
Het |
|
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| Other mutations in Nfic |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00481:Nfic
|
APN |
10 |
81408220 |
missense |
possibly damaging |
0.94 |
|
IGL01486:Nfic
|
APN |
10 |
81407644 |
splice site |
probably null |
|
|
IGL01784:Nfic
|
APN |
10 |
81406148 |
missense |
possibly damaging |
0.70 |
|
IGL02053:Nfic
|
APN |
10 |
81420551 |
missense |
probably damaging |
1.00 |
|
sterb
|
UTSW |
10 |
81420800 |
critical splice acceptor site |
probably null |
|
|
Stronger
|
UTSW |
10 |
81420500 |
missense |
probably damaging |
1.00 |
|
Taller
|
UTSW |
10 |
81406087 |
critical splice donor site |
probably null |
|
|
R0113:Nfic
|
UTSW |
10 |
81420585 |
missense |
probably damaging |
1.00 |
|
R1468:Nfic
|
UTSW |
10 |
81420580 |
missense |
probably damaging |
1.00 |
|
R1468:Nfic
|
UTSW |
10 |
81420580 |
missense |
probably damaging |
1.00 |
|
R1807:Nfic
|
UTSW |
10 |
81404985 |
missense |
probably benign |
0.21 |
|
R1872:Nfic
|
UTSW |
10 |
81420684 |
missense |
possibly damaging |
0.89 |
|
R2295:Nfic
|
UTSW |
10 |
81420531 |
missense |
probably damaging |
1.00 |
|
R2324:Nfic
|
UTSW |
10 |
81406087 |
critical splice donor site |
probably null |
|
|
R5992:Nfic
|
UTSW |
10 |
81420747 |
missense |
probably damaging |
1.00 |
|
R6260:Nfic
|
UTSW |
10 |
81420517 |
nonsense |
probably null |
|
|
R6972:Nfic
|
UTSW |
10 |
81420357 |
missense |
probably benign |
0.00 |
|
R6973:Nfic
|
UTSW |
10 |
81420357 |
missense |
probably benign |
0.00 |
|
R6982:Nfic
|
UTSW |
10 |
81420800 |
critical splice acceptor site |
probably null |
|
|
R7158:Nfic
|
UTSW |
10 |
81420605 |
missense |
probably damaging |
1.00 |
|
R7682:Nfic
|
UTSW |
10 |
81420500 |
missense |
probably damaging |
1.00 |
|
X0065:Nfic
|
UTSW |
10 |
81427098 |
missense |
probably benign |
0.02 |
|
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| Posted On | 2016-08-02 |
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