Incidental Mutation 'IGL01839:Nfib'
ID |
155050 |
Institutional Source |
Australian Phenomics Network
(link to record)
|
Gene Symbol |
Nfib
|
Ensembl Gene |
ENSMUSG00000008575 |
Gene Name |
nuclear factor I/B |
Synonyms |
6720429L07Rik, E030026I10Rik |
Accession Numbers |
|
Essential gene? |
Essential
(E-score: 1.000)
|
Stock # |
IGL01839
|
Quality Score |
|
Status
|
|
Chromosome |
4 |
Chromosomal Location |
82208410-82424988 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 82228607 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Methionine to Valine
at position 505
(M505V)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000102869
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000050872]
[ENSMUST00000064770]
[ENSMUST00000107245]
[ENSMUST00000107246]
[ENSMUST00000107247]
[ENSMUST00000107248]
|
AlphaFold |
P97863 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000050872
AA Change: M506V
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
SMART Domains |
Protein: ENSMUSP00000052863 Gene: ENSMUSG00000008575 AA Change: M506V
Domain | Start | End | E-Value | Type |
Pfam:NfI_DNAbd_pre-N
|
7 |
47 |
4.2e-29 |
PFAM |
DWA
|
68 |
176 |
1.65e-19 |
SMART |
Pfam:CTF_NFI
|
209 |
506 |
5.7e-123 |
PFAM |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000064770
|
SMART Domains |
Protein: ENSMUSP00000067629 Gene: ENSMUSG00000008575
Domain | Start | End | E-Value | Type |
Pfam:NfI_DNAbd_pre-N
|
4 |
47 |
3.7e-30 |
PFAM |
DWA
|
68 |
176 |
1.65e-19 |
SMART |
Pfam:CTF_NFI
|
209 |
419 |
2.4e-88 |
PFAM |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000107245
|
SMART Domains |
Protein: ENSMUSP00000102865 Gene: ENSMUSG00000008575
Domain | Start | End | E-Value | Type |
Pfam:NfI_DNAbd_pre-N
|
3 |
46 |
2.9e-30 |
PFAM |
DWA
|
67 |
175 |
1.65e-19 |
SMART |
Pfam:CTF_NFI
|
208 |
493 |
1.6e-123 |
PFAM |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000107246
AA Change: M422V
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
SMART Domains |
Protein: ENSMUSP00000102866 Gene: ENSMUSG00000008575 AA Change: M422V
Domain | Start | End | E-Value | Type |
Pfam:NfI_DNAbd_pre-N
|
3 |
46 |
5.9e-30 |
PFAM |
DWA
|
67 |
175 |
1.65e-19 |
SMART |
Pfam:CTF_NFI
|
208 |
462 |
3.7e-89 |
PFAM |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000107247
AA Change: M496V
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
SMART Domains |
Protein: ENSMUSP00000102868 Gene: ENSMUSG00000008575 AA Change: M496V
Domain | Start | End | E-Value | Type |
Pfam:NfI_DNAbd_pre-N
|
3 |
46 |
7.5e-31 |
PFAM |
DWA
|
67 |
175 |
1.65e-19 |
SMART |
Pfam:CTF_NFI
|
208 |
492 |
2.5e-119 |
PFAM |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000107248
AA Change: M505V
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
SMART Domains |
Protein: ENSMUSP00000102869 Gene: ENSMUSG00000008575 AA Change: M505V
Domain | Start | End | E-Value | Type |
Pfam:NfI_DNAbd_pre-N
|
3 |
46 |
6.9e-30 |
PFAM |
DWA
|
67 |
175 |
1.65e-19 |
SMART |
Pfam:CTF_NFI
|
208 |
501 |
1.5e-125 |
PFAM |
|
Coding Region Coverage |
|
Validation Efficiency |
|
MGI Phenotype |
PHENOTYPE: Homozygous inactivation of this gene causes severe lung defects and neonatal death from respiratory failure. Homozygotes for a null allele show callosal agenesis and abnormalities in forebrain, basilar pons, hippocampus, and submandibular gland development, as well as lung maturation defects. [provided by MGI curators]
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 27 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Adam6a |
T |
A |
12: 113,508,242 (GRCm39) |
L205Q |
probably benign |
Het |
Cadps |
G |
T |
14: 12,467,184 (GRCm38) |
|
probably benign |
Het |
Cfap69 |
G |
A |
5: 5,676,027 (GRCm39) |
Q223* |
probably null |
Het |
Col11a2 |
G |
A |
17: 34,283,056 (GRCm39) |
|
probably benign |
Het |
Col3a1 |
T |
C |
1: 45,350,990 (GRCm39) |
V28A |
unknown |
Het |
Cyp17a1 |
A |
G |
19: 46,659,110 (GRCm39) |
I177T |
possibly damaging |
Het |
Exoc2 |
A |
G |
13: 31,090,782 (GRCm39) |
L274P |
probably damaging |
Het |
Fastkd3 |
A |
G |
13: 68,732,971 (GRCm39) |
R431G |
probably benign |
Het |
Fat3 |
T |
C |
9: 15,909,168 (GRCm39) |
N2278S |
probably damaging |
Het |
Ift172 |
G |
T |
5: 31,423,694 (GRCm39) |
A756E |
probably damaging |
Het |
Igf2r |
T |
C |
17: 12,923,909 (GRCm39) |
Y1087C |
probably damaging |
Het |
Khdrbs2 |
T |
C |
1: 32,453,943 (GRCm39) |
|
probably benign |
Het |
Kmt5a |
A |
G |
5: 124,589,417 (GRCm39) |
K205R |
probably benign |
Het |
Lrrc45 |
A |
T |
11: 120,607,975 (GRCm39) |
|
probably null |
Het |
Ltbp2 |
T |
C |
12: 84,840,432 (GRCm39) |
S1045G |
possibly damaging |
Het |
Oit3 |
C |
T |
10: 59,265,318 (GRCm39) |
V316I |
probably damaging |
Het |
Or1e1f |
T |
A |
11: 73,855,437 (GRCm39) |
M1K |
probably null |
Het |
Or5b119 |
T |
C |
19: 13,456,804 (GRCm39) |
T253A |
probably benign |
Het |
Pcdhb5 |
A |
T |
18: 37,454,502 (GRCm39) |
N294I |
probably damaging |
Het |
Pld4 |
A |
T |
12: 112,731,513 (GRCm39) |
H222L |
probably damaging |
Het |
Sacs |
T |
C |
14: 61,421,394 (GRCm39) |
|
probably benign |
Het |
Sgms2 |
T |
C |
3: 131,135,751 (GRCm39) |
K41R |
possibly damaging |
Het |
Slc22a4 |
A |
T |
11: 53,886,903 (GRCm39) |
S280T |
probably damaging |
Het |
Slc34a1 |
T |
C |
13: 23,996,668 (GRCm39) |
S58P |
possibly damaging |
Het |
Slc7a15 |
C |
T |
12: 8,589,365 (GRCm39) |
G61S |
probably damaging |
Het |
Trrap |
A |
G |
5: 144,758,685 (GRCm39) |
K2190E |
probably damaging |
Het |
Ttn |
C |
A |
2: 76,644,702 (GRCm39) |
Q13017H |
probably damaging |
Het |
|
Other mutations in Nfib |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
R0220:Nfib
|
UTSW |
4 |
82,215,013 (GRCm39) |
missense |
probably damaging |
0.99 |
R0309:Nfib
|
UTSW |
4 |
82,214,974 (GRCm39) |
missense |
probably damaging |
1.00 |
R0352:Nfib
|
UTSW |
4 |
82,422,954 (GRCm39) |
intron |
probably benign |
|
R0466:Nfib
|
UTSW |
4 |
82,416,775 (GRCm39) |
missense |
probably damaging |
1.00 |
R1643:Nfib
|
UTSW |
4 |
82,416,916 (GRCm39) |
missense |
probably damaging |
1.00 |
R1737:Nfib
|
UTSW |
4 |
82,416,826 (GRCm39) |
missense |
probably damaging |
0.99 |
R1860:Nfib
|
UTSW |
4 |
82,241,917 (GRCm39) |
missense |
probably damaging |
1.00 |
R2069:Nfib
|
UTSW |
4 |
82,416,852 (GRCm39) |
missense |
probably damaging |
1.00 |
R2103:Nfib
|
UTSW |
4 |
82,248,645 (GRCm39) |
missense |
possibly damaging |
0.57 |
R3429:Nfib
|
UTSW |
4 |
82,416,532 (GRCm39) |
missense |
possibly damaging |
0.75 |
R3430:Nfib
|
UTSW |
4 |
82,416,532 (GRCm39) |
missense |
possibly damaging |
0.75 |
R3755:Nfib
|
UTSW |
4 |
82,241,936 (GRCm39) |
missense |
probably damaging |
1.00 |
R4373:Nfib
|
UTSW |
4 |
82,241,895 (GRCm39) |
missense |
probably damaging |
0.97 |
R4433:Nfib
|
UTSW |
4 |
82,416,672 (GRCm39) |
missense |
probably damaging |
1.00 |
R4575:Nfib
|
UTSW |
4 |
82,215,048 (GRCm39) |
missense |
probably damaging |
0.99 |
R4578:Nfib
|
UTSW |
4 |
82,215,048 (GRCm39) |
missense |
probably damaging |
0.99 |
R4719:Nfib
|
UTSW |
4 |
82,422,967 (GRCm39) |
critical splice donor site |
probably null |
|
R4752:Nfib
|
UTSW |
4 |
82,215,016 (GRCm39) |
missense |
probably damaging |
0.97 |
R4953:Nfib
|
UTSW |
4 |
82,271,808 (GRCm39) |
missense |
probably benign |
0.20 |
R5533:Nfib
|
UTSW |
4 |
82,278,004 (GRCm39) |
missense |
probably damaging |
0.99 |
R6583:Nfib
|
UTSW |
4 |
82,416,708 (GRCm39) |
missense |
probably damaging |
1.00 |
R7055:Nfib
|
UTSW |
4 |
82,248,662 (GRCm39) |
missense |
probably benign |
0.03 |
R7162:Nfib
|
UTSW |
4 |
82,268,677 (GRCm39) |
missense |
probably damaging |
0.97 |
R7204:Nfib
|
UTSW |
4 |
82,215,052 (GRCm39) |
splice site |
probably null |
|
R7462:Nfib
|
UTSW |
4 |
82,271,826 (GRCm39) |
missense |
probably benign |
0.05 |
R7465:Nfib
|
UTSW |
4 |
82,271,758 (GRCm39) |
critical splice donor site |
probably null |
|
R7764:Nfib
|
UTSW |
4 |
82,238,731 (GRCm39) |
missense |
possibly damaging |
0.72 |
R7894:Nfib
|
UTSW |
4 |
82,246,030 (GRCm39) |
missense |
probably benign |
0.02 |
R9080:Nfib
|
UTSW |
4 |
82,623,754 (GRCm39) |
missense |
|
|
R9141:Nfib
|
UTSW |
4 |
82,416,529 (GRCm39) |
missense |
probably damaging |
1.00 |
R9426:Nfib
|
UTSW |
4 |
82,416,529 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Posted On |
2014-02-04 |