Incidental Mutation 'IGL00481:Nfic'
| ID |
4690 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Nfic
|
| Ensembl Gene |
ENSMUSG00000055053 |
| Gene Name |
nuclear factor I/C |
| Synonyms |
1500041O16Rik, NF1-C, nuclear factor 1-C2, 1110019L22Rik |
| Accession Numbers |
|
| Essential gene? |
Possibly essential
(E-score: 0.506)
|
| Stock # |
IGL00481
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
10 |
| Chromosomal Location |
81232025-81267753 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 81244054 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Glutamic Acid
at position 240
(V240E)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000100958
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000020461]
[ENSMUST00000078185]
[ENSMUST00000105321]
[ENSMUST00000117966]
[ENSMUST00000221817]
|
| AlphaFold |
P70255 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000020461
AA Change: V240E
PolyPhen 2
Score 0.939 (Sensitivity: 0.80; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000020461
Gene: ENSMUSG00000055053
AA Change: V240E
| 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 |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000078185
AA Change: V240E
PolyPhen 2
Score 0.939 (Sensitivity: 0.80; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000077317
Gene: ENSMUSG00000055053
AA Change: V240E
| 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 |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000105321
AA Change: V240E
PolyPhen 2
Score 0.939 (Sensitivity: 0.80; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000100958
Gene: ENSMUSG00000055053
AA Change: V240E
| 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 |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000117966
AA Change: V231E
PolyPhen 2
Score 0.681 (Sensitivity: 0.86; Specificity: 0.92)
|
| SMART Domains |
Protein: ENSMUSP00000113046
Gene: ENSMUSG00000055053
AA Change: V231E
| 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 |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000140916
|
| 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 |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000156260
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000221817
AA Change: V262E
PolyPhen 2
Score 0.681 (Sensitivity: 0.86; Specificity: 0.92)
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| 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]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 47 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca13 |
T |
C |
11: 9,240,969 (GRCm39) |
L944P |
probably damaging |
Het |
| Akap13 |
A |
G |
7: 75,373,643 (GRCm39) |
S1885G |
probably damaging |
Het |
| Aqp3 |
A |
G |
4: 41,093,632 (GRCm39) |
Y261H |
probably damaging |
Het |
| Arap2 |
A |
T |
5: 62,793,305 (GRCm39) |
N1380K |
probably damaging |
Het |
| Barx2 |
T |
C |
9: 31,758,141 (GRCm39) |
I266V |
unknown |
Het |
| BC034090 |
C |
T |
1: 155,108,267 (GRCm39) |
R360H |
probably benign |
Het |
| Bmal2 |
T |
A |
6: 146,711,164 (GRCm39) |
M56K |
probably benign |
Het |
| Ccnb2 |
T |
C |
9: 70,326,189 (GRCm39) |
K52E |
probably damaging |
Het |
| Ccp110 |
G |
A |
7: 118,329,220 (GRCm39) |
V868I |
possibly damaging |
Het |
| Cfap300 |
T |
C |
9: 8,042,432 (GRCm39) |
Y57C |
probably damaging |
Het |
| Cyld |
G |
T |
8: 89,433,918 (GRCm39) |
V236F |
probably damaging |
Het |
| Dst |
T |
C |
1: 34,208,410 (GRCm39) |
|
probably benign |
Het |
| Ehmt1 |
G |
T |
2: 24,728,830 (GRCm39) |
A637E |
possibly damaging |
Het |
| Erlin1 |
G |
T |
19: 44,057,758 (GRCm39) |
Y22* |
probably null |
Het |
| Ezh1 |
A |
T |
11: 101,090,128 (GRCm39) |
M539K |
possibly damaging |
Het |
| Fancc |
A |
T |
13: 63,548,059 (GRCm39) |
I80N |
probably damaging |
Het |
| Fat1 |
G |
A |
8: 45,503,977 (GRCm39) |
S4447N |
probably benign |
Het |
| Fem1al |
A |
G |
11: 29,774,755 (GRCm39) |
L234P |
probably damaging |
Het |
| Fhip2a |
A |
G |
19: 57,369,777 (GRCm39) |
E440G |
probably benign |
Het |
| Frem3 |
A |
G |
8: 81,395,439 (GRCm39) |
Q1822R |
possibly damaging |
Het |
| Iqgap1 |
C |
T |
7: 80,409,592 (GRCm39) |
V248I |
probably benign |
Het |
| Itch |
T |
C |
2: 155,054,943 (GRCm39) |
I749T |
probably damaging |
Het |
| Kcna10 |
T |
A |
3: 107,102,830 (GRCm39) |
M487K |
probably benign |
Het |
| Krt87 |
A |
T |
15: 101,386,092 (GRCm39) |
L223Q |
probably benign |
Het |
| Mtmr2 |
T |
C |
9: 13,697,212 (GRCm39) |
I84T |
probably benign |
Het |
| Myocd |
G |
A |
11: 65,077,980 (GRCm39) |
T477M |
probably damaging |
Het |
| Or4d2 |
A |
G |
11: 87,784,447 (GRCm39) |
I101T |
possibly damaging |
Het |
| Prkdc |
A |
T |
16: 15,608,330 (GRCm39) |
Y3044F |
probably benign |
Het |
| Prkg1 |
A |
G |
19: 30,549,022 (GRCm39) |
I636T |
probably benign |
Het |
| Ptpru |
A |
G |
4: 131,535,546 (GRCm39) |
V477A |
probably benign |
Het |
| Rab7b |
T |
A |
1: 131,626,329 (GRCm39) |
M119K |
possibly damaging |
Het |
| Sec61a1 |
T |
C |
6: 88,483,922 (GRCm39) |
|
probably benign |
Het |
| Sectm1b |
A |
G |
11: 120,946,799 (GRCm39) |
V32A |
probably benign |
Het |
| Shroom2 |
A |
G |
X: 151,406,219 (GRCm39) |
S1034P |
probably benign |
Het |
| Sipa1l3 |
A |
T |
7: 29,085,533 (GRCm39) |
I688N |
probably damaging |
Het |
| Slc24a1 |
T |
C |
9: 64,835,301 (GRCm39) |
Y942C |
probably damaging |
Het |
| Smg1 |
C |
T |
7: 117,810,017 (GRCm39) |
R139K |
possibly damaging |
Het |
| Stt3b |
G |
A |
9: 115,080,915 (GRCm39) |
T574I |
probably benign |
Het |
| Thoc2 |
A |
G |
X: 40,968,768 (GRCm39) |
I76T |
possibly damaging |
Het |
| Tpm3 |
C |
T |
3: 89,995,024 (GRCm39) |
T180M |
probably damaging |
Het |
| Uqcrfs1 |
C |
A |
13: 30,724,908 (GRCm39) |
V211F |
probably benign |
Het |
| Usp47 |
A |
G |
7: 111,673,990 (GRCm39) |
S418G |
probably benign |
Het |
| Usp5 |
T |
C |
6: 124,806,316 (GRCm39) |
T15A |
probably benign |
Het |
| Vps13c |
T |
C |
9: 67,768,147 (GRCm39) |
L122P |
probably damaging |
Het |
| Zfp677 |
A |
T |
17: 21,617,930 (GRCm39) |
E329V |
probably benign |
Het |
| Zfyve16 |
A |
T |
13: 92,653,046 (GRCm39) |
N846K |
possibly damaging |
Het |
| Zp1 |
G |
T |
19: 10,896,141 (GRCm39) |
P195T |
probably damaging |
Het |
|
| Other mutations in Nfic |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01486:Nfic
|
APN |
10 |
81,243,478 (GRCm39) |
splice site |
probably null |
|
|
IGL01784:Nfic
|
APN |
10 |
81,241,982 (GRCm39) |
missense |
possibly damaging |
0.70 |
|
IGL02053:Nfic
|
APN |
10 |
81,256,385 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL03128:Nfic
|
APN |
10 |
81,242,025 (GRCm39) |
missense |
probably benign |
0.21 |
|
sterb
|
UTSW |
10 |
81,256,634 (GRCm39) |
critical splice acceptor site |
probably null |
|
|
Stronger
|
UTSW |
10 |
81,256,334 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Taller
|
UTSW |
10 |
81,241,921 (GRCm39) |
critical splice donor site |
probably null |
|
|
R0113:Nfic
|
UTSW |
10 |
81,256,419 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1468:Nfic
|
UTSW |
10 |
81,256,414 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1468:Nfic
|
UTSW |
10 |
81,256,414 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1807:Nfic
|
UTSW |
10 |
81,240,819 (GRCm39) |
missense |
probably benign |
0.21 |
|
R1872:Nfic
|
UTSW |
10 |
81,256,518 (GRCm39) |
missense |
possibly damaging |
0.89 |
|
R2295:Nfic
|
UTSW |
10 |
81,256,365 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2324:Nfic
|
UTSW |
10 |
81,241,921 (GRCm39) |
critical splice donor site |
probably null |
|
|
R5992:Nfic
|
UTSW |
10 |
81,256,581 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6260:Nfic
|
UTSW |
10 |
81,256,351 (GRCm39) |
nonsense |
probably null |
|
|
R6972:Nfic
|
UTSW |
10 |
81,256,191 (GRCm39) |
missense |
probably benign |
0.00 |
|
R6973:Nfic
|
UTSW |
10 |
81,256,191 (GRCm39) |
missense |
probably benign |
0.00 |
|
R6982:Nfic
|
UTSW |
10 |
81,256,634 (GRCm39) |
critical splice acceptor site |
probably null |
|
|
R7158:Nfic
|
UTSW |
10 |
81,256,439 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7682:Nfic
|
UTSW |
10 |
81,256,334 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8858:Nfic
|
UTSW |
10 |
81,262,965 (GRCm39) |
intron |
probably benign |
|
|
R9498:Nfic
|
UTSW |
10 |
81,256,502 (GRCm39) |
missense |
probably damaging |
1.00 |
|
X0065:Nfic
|
UTSW |
10 |
81,262,932 (GRCm39) |
missense |
probably benign |
0.02 |
|
| Posted On |
2012-04-20 |
Incidental Mutation