Incidental Mutation 'R9426:Nfib'
ID |
712617 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Nfib
|
Ensembl Gene |
ENSMUSG00000008575 |
Gene Name |
nuclear factor I/B |
Synonyms |
6720429L07Rik, E030026I10Rik |
MMRRC Submission |
|
Accession Numbers |
|
Essential gene? |
Essential
(E-score: 1.000)
|
Stock # |
R9426 (G1)
|
Quality Score |
225.009 |
Status
|
Not validated
|
Chromosome |
4 |
Chromosomal Location |
82208410-82424988 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to G
at 82416529 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Threonine to Proline
at position 170
(T170P)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000052863
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000050872]
[ENSMUST00000064770]
[ENSMUST00000107245]
[ENSMUST00000107246]
[ENSMUST00000107247]
[ENSMUST00000107248]
[ENSMUST00000155821]
|
AlphaFold |
P97863 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000050872
AA Change: T170P
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000052863 Gene: ENSMUSG00000008575 AA Change: T170P
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 damaging
Transcript: ENSMUST00000064770
AA Change: T170P
PolyPhen 2
Score 0.982 (Sensitivity: 0.75; Specificity: 0.96)
|
SMART Domains |
Protein: ENSMUSP00000067629 Gene: ENSMUSG00000008575 AA Change: T170P
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 damaging
Transcript: ENSMUST00000107245
AA Change: T169P
PolyPhen 2
Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
|
SMART Domains |
Protein: ENSMUSP00000102865 Gene: ENSMUSG00000008575 AA Change: T169P
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 damaging
Transcript: ENSMUST00000107246
AA Change: T169P
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000102866 Gene: ENSMUSG00000008575 AA Change: T169P
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 damaging
Transcript: ENSMUST00000107247
AA Change: T169P
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000102868 Gene: ENSMUSG00000008575 AA Change: T169P
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 damaging
Transcript: ENSMUST00000107248
AA Change: T169P
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000102869 Gene: ENSMUSG00000008575 AA Change: T169P
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 |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000155821
|
SMART Domains |
Protein: ENSMUSP00000123169 Gene: ENSMUSG00000008575
Domain | Start | End | E-Value | Type |
Pfam:NfI_DNAbd_pre-N
|
20 |
62 |
2.8e-28 |
PFAM |
DWA
|
83 |
175 |
1.06e-6 |
SMART |
|
Meta Mutation Damage Score |
0.1077 |
Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.8%
- 20x: 99.3%
|
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: 48 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abca7 |
A |
G |
10: 79,851,264 (GRCm39) |
D2159G |
possibly damaging |
Het |
Adamts8 |
A |
G |
9: 30,864,721 (GRCm39) |
Y404C |
possibly damaging |
Het |
Adprhl1 |
A |
G |
8: 13,274,034 (GRCm39) |
F908S |
possibly damaging |
Het |
Arhgef16 |
A |
C |
4: 154,366,300 (GRCm39) |
L489R |
probably damaging |
Het |
Asmt |
G |
A |
X: 169,110,199 (GRCm39) |
G236E |
probably damaging |
Het |
Ces2e |
A |
G |
8: 105,656,220 (GRCm39) |
Y177C |
probably damaging |
Het |
Cfap43 |
A |
G |
19: 47,814,237 (GRCm39) |
I199T |
probably damaging |
Het |
Chac1 |
T |
A |
2: 119,183,914 (GRCm39) |
F172Y |
possibly damaging |
Het |
Cldnd2 |
A |
T |
7: 43,092,688 (GRCm39) |
I160F |
possibly damaging |
Het |
Col15a1 |
G |
C |
4: 47,288,200 (GRCm39) |
|
probably benign |
Het |
Coq10b |
C |
G |
1: 55,106,719 (GRCm39) |
L175V |
possibly damaging |
Het |
Cpne6 |
T |
C |
14: 55,751,176 (GRCm39) |
|
probably null |
Het |
Dnai4 |
A |
T |
4: 102,906,743 (GRCm39) |
I690N |
probably damaging |
Het |
Eif2b3 |
C |
A |
4: 116,923,578 (GRCm39) |
Y264* |
probably null |
Het |
Fcgbpl1 |
A |
T |
7: 27,843,281 (GRCm39) |
H723L |
possibly damaging |
Het |
Fhod1 |
C |
T |
8: 106,056,490 (GRCm39) |
R1100Q |
probably benign |
Het |
Hao1 |
T |
A |
2: 134,347,555 (GRCm39) |
H250L |
probably benign |
Het |
Has3 |
A |
G |
8: 107,600,823 (GRCm39) |
Y95C |
probably damaging |
Het |
Hoxc10 |
A |
T |
15: 102,879,289 (GRCm39) |
K270* |
probably null |
Het |
Kcnq5 |
A |
G |
1: 21,473,118 (GRCm39) |
F710L |
probably benign |
Het |
Knl1 |
C |
T |
2: 118,899,979 (GRCm39) |
T560I |
possibly damaging |
Het |
Ltbp1 |
C |
T |
17: 75,598,309 (GRCm39) |
R597W |
possibly damaging |
Het |
Nup210l |
C |
T |
3: 90,107,173 (GRCm39) |
P1570L |
probably benign |
Het |
Optn |
T |
A |
2: 5,059,485 (GRCm39) |
E11V |
possibly damaging |
Het |
Or4d2b |
A |
T |
11: 87,780,056 (GRCm39) |
L222Q |
probably damaging |
Het |
Phf3 |
A |
T |
1: 30,870,625 (GRCm39) |
L141* |
probably null |
Het |
Pigt |
CCAGGCCAGTGAGTAGGTTTGTCTCTGTCTAGTGTGGATCTGTAACCACAGGCCAGTGAGTAGGTTTGTCTCTGTCTAGTGTGGATCTGTAACCACAGGCCAGTGAGTAGGTTTGTCTCTGTCTAGTGTGGAT |
CCAGGCCAGTGAGTAGGTTTGTCTCTGTCTAGTGTGGATCTGTAACCACAGGCCAGTGAGTAGGTTTGTCTCTGTCTAGTGTGGAT |
2: 164,341,589 (GRCm39) |
|
probably null |
Het |
Pramel39-ps |
G |
T |
5: 94,451,001 (GRCm39) |
P375H |
probably damaging |
Het |
Prkcg |
C |
T |
7: 3,375,975 (GRCm39) |
S540F |
probably damaging |
Het |
Ptbp1 |
T |
A |
10: 79,694,897 (GRCm39) |
I75N |
probably damaging |
Het |
R3hdm1 |
T |
C |
1: 128,164,212 (GRCm39) |
L1042P |
probably damaging |
Het |
Scmh1 |
T |
C |
4: 120,362,556 (GRCm39) |
V264A |
probably benign |
Het |
Sec23a |
A |
G |
12: 59,053,890 (GRCm39) |
V36A |
probably benign |
Het |
Senp2 |
A |
G |
16: 21,828,491 (GRCm39) |
S34G |
probably damaging |
Het |
Serpina3a |
A |
G |
12: 104,087,649 (GRCm39) |
N191D |
probably benign |
Het |
Slc4a11 |
C |
T |
2: 130,533,664 (GRCm39) |
A100T |
probably damaging |
Het |
Smchd1 |
C |
T |
17: 71,672,125 (GRCm39) |
S1643N |
probably benign |
Het |
Snrk |
T |
A |
9: 121,986,326 (GRCm39) |
Y232N |
probably damaging |
Het |
Spata31h1 |
T |
A |
10: 82,126,610 (GRCm39) |
K2133N |
probably damaging |
Het |
Spmip3 |
T |
A |
1: 177,570,834 (GRCm39) |
L56* |
probably null |
Het |
St6galnac6 |
T |
C |
2: 32,505,094 (GRCm39) |
I202T |
probably damaging |
Het |
Stab2 |
T |
C |
10: 86,704,911 (GRCm39) |
K1819R |
probably damaging |
Het |
Strn3 |
T |
C |
12: 51,694,873 (GRCm39) |
T297A |
probably damaging |
Het |
Sult1b1 |
T |
A |
5: 87,665,280 (GRCm39) |
E218V |
probably damaging |
Het |
Tcp10c |
T |
C |
17: 13,584,463 (GRCm39) |
S275P |
probably benign |
Het |
Ttn |
C |
T |
2: 76,715,357 (GRCm39) |
E7912K |
unknown |
Het |
Urb2 |
T |
G |
8: 124,755,285 (GRCm39) |
L331V |
probably damaging |
Het |
Zfp592 |
A |
T |
7: 80,674,205 (GRCm39) |
T390S |
probably damaging |
Het |
|
Other mutations in Nfib |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL01839:Nfib
|
APN |
4 |
82,228,607 (GRCm39) |
missense |
probably benign |
|
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 |
|
Predicted Primers |
PCR Primer
(F):5'- ATCTCCATGGCTCCCACATG -3'
(R):5'- TCCAATCCAGACCAGAAGGG -3'
Sequencing Primer
(F):5'- TGGACCTGGAGCACTACTG -3'
(R):5'- GTAAGATTAGGAGGATCGACTGCCTG -3'
|
Posted On |
2022-05-16 |