Incidental Mutation 'R2324:Nfic'
| ID |
244853 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Nfic
|
| Ensembl Gene |
ENSMUSG00000055053 |
| Gene Name |
nuclear factor I/C |
| Synonyms |
1500041O16Rik, NF1-C, nuclear factor 1-C2, 1110019L22Rik |
| MMRRC Submission |
040315-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly essential
(E-score: 0.506)
|
| Stock # |
R2324 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
10 |
| Chromosomal Location |
81232025-81267753 bp(-) (GRCm39) |
| Type of Mutation |
critical splice donor site (2 bp from exon) |
| DNA Base Change (assembly) |
A to G
at 81241921 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000152790
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000020461]
[ENSMUST00000020461]
[ENSMUST00000078185]
[ENSMUST00000105321]
[ENSMUST00000105321]
[ENSMUST00000117966]
[ENSMUST00000221817]
|
| AlphaFold |
P70255 |
| Predicted Effect |
probably null
Transcript: ENSMUST00000020461
|
| SMART Domains |
Protein: ENSMUSP00000020461
Gene: ENSMUSG00000055053
| 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 |
probably null
Transcript: ENSMUST00000020461
|
| SMART Domains |
Protein: ENSMUSP00000020461
Gene: ENSMUSG00000055053
| 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 |
probably benign
Transcript: ENSMUST00000078185
|
| 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 |
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000105321
|
| SMART Domains |
Protein: ENSMUSP00000100958
Gene: ENSMUSG00000055053
| 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 |
probably null
Transcript: ENSMUST00000105321
|
| SMART Domains |
Protein: ENSMUSP00000100958
Gene: ENSMUSG00000055053
| 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 |
probably null
Transcript: ENSMUST00000117966
|
| SMART Domains |
Protein: ENSMUSP00000113046
Gene: ENSMUSG00000055053
| 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 |
probably null
Transcript: ENSMUST00000221817
|
| Meta Mutation Damage Score |
0.9498 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.4%
- 20x: 95.3%
|
| Validation Efficiency |
100% (33/33) |
| 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: 31 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Akna |
T |
C |
4: 63,290,039 (GRCm39) |
D1223G |
possibly damaging |
Het |
| Ankrd42 |
C |
A |
7: 92,273,186 (GRCm39) |
R147L |
probably damaging |
Het |
| Cdhr18 |
A |
T |
14: 13,868,077 (GRCm38) |
I204N |
probably damaging |
Het |
| Cep152 |
T |
C |
2: 125,405,382 (GRCm39) |
I1717V |
probably benign |
Het |
| Clca3a2 |
A |
G |
3: 144,512,041 (GRCm39) |
|
probably null |
Het |
| Coa8 |
A |
G |
12: 111,690,784 (GRCm39) |
E112G |
possibly damaging |
Het |
| Dnhd1 |
A |
T |
7: 105,359,297 (GRCm39) |
H3544L |
probably damaging |
Het |
| Dpy19l4 |
T |
C |
4: 11,276,857 (GRCm39) |
|
probably benign |
Het |
| Efcab8 |
A |
G |
2: 153,625,729 (GRCm39) |
|
probably null |
Het |
| Esyt2 |
A |
G |
12: 116,331,441 (GRCm39) |
N773S |
possibly damaging |
Het |
| Hectd4 |
G |
A |
5: 121,453,500 (GRCm39) |
G613D |
probably damaging |
Het |
| Ints12 |
G |
A |
3: 132,815,126 (GRCm39) |
M444I |
possibly damaging |
Het |
| Ints3 |
A |
G |
3: 90,301,401 (GRCm39) |
L827P |
probably damaging |
Het |
| Irf9 |
T |
C |
14: 55,843,367 (GRCm39) |
|
probably null |
Het |
| Lactb2 |
T |
C |
1: 13,708,520 (GRCm39) |
D176G |
probably damaging |
Het |
| Lmntd2 |
A |
T |
7: 140,790,701 (GRCm39) |
S516T |
possibly damaging |
Het |
| Lrp1 |
C |
A |
10: 127,402,455 (GRCm39) |
A2239S |
possibly damaging |
Het |
| Lrrc56 |
A |
G |
7: 140,785,476 (GRCm39) |
|
probably benign |
Het |
| Notch3 |
G |
A |
17: 32,369,108 (GRCm39) |
|
probably benign |
Het |
| Oas2 |
T |
C |
5: 120,881,339 (GRCm39) |
K251E |
probably benign |
Het |
| Or5k15 |
T |
C |
16: 58,710,503 (GRCm39) |
T27A |
probably benign |
Het |
| Pabpc4 |
T |
C |
4: 123,191,571 (GRCm39) |
|
probably benign |
Het |
| Piwil4 |
C |
T |
9: 14,648,204 (GRCm39) |
R125H |
possibly damaging |
Het |
| Rbsn |
A |
G |
6: 92,170,947 (GRCm39) |
Y325H |
probably damaging |
Het |
| Rhox2e |
C |
A |
X: 36,712,516 (GRCm39) |
P69Q |
probably damaging |
Het |
| Skint6 |
T |
C |
4: 112,729,654 (GRCm39) |
|
probably null |
Het |
| Tmem165 |
T |
C |
5: 76,352,671 (GRCm39) |
|
probably benign |
Het |
| Tmem181a |
T |
A |
17: 6,346,061 (GRCm39) |
L185H |
probably damaging |
Het |
| Ttc13 |
A |
G |
8: 125,405,796 (GRCm39) |
V499A |
probably damaging |
Het |
| Vax2 |
G |
T |
6: 83,688,307 (GRCm39) |
R10L |
possibly damaging |
Het |
| Zfp988 |
A |
C |
4: 147,417,242 (GRCm39) |
K559Q |
probably benign |
Het |
|
| Other mutations in Nfic |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00481:Nfic
|
APN |
10 |
81,244,054 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
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 |
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- TGGGCTCTATCAGGATCACAG -3'
(R):5'- CACTTGCTGCCCTTCAGAGATG -3'
Sequencing Primer
(F):5'- CTCTATCAGGATCACAGAGTATGGC -3'
(R):5'- CCCTTCAGAGATGGAGACTTG -3'
|
| Posted On |
2014-10-30 |
Incidental Mutation