Incidental Mutation 'R0466:Nfib'
ID |
41627 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Nfib
|
Ensembl Gene |
ENSMUSG00000008575 |
Gene Name |
nuclear factor I/B |
Synonyms |
6720429L07Rik, E030026I10Rik |
MMRRC Submission |
038666-MU
|
Accession Numbers |
|
Essential gene? |
Essential
(E-score: 1.000)
|
Stock # |
R0466 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
4 |
Chromosomal Location |
82208410-82424988 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to C
at 82416775 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Tyrosine to Aspartic acid
at position 87
(Y87D)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000102866
(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: Y88D
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000052863 Gene: ENSMUSG00000008575 AA Change: Y88D
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: Y88D
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000067629 Gene: ENSMUSG00000008575 AA Change: Y88D
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: Y87D
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000102865 Gene: ENSMUSG00000008575 AA Change: Y87D
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: Y87D
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000102866 Gene: ENSMUSG00000008575 AA Change: Y87D
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: Y87D
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000102868 Gene: ENSMUSG00000008575 AA Change: Y87D
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: Y87D
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000102869 Gene: ENSMUSG00000008575 AA Change: Y87D
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 |
noncoding transcript
Transcript: ENSMUST00000122918
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000155821
AA Change: Y103D
PolyPhen 2
Score 0.005 (Sensitivity: 0.97; Specificity: 0.74)
|
SMART Domains |
Protein: ENSMUSP00000123169 Gene: ENSMUSG00000008575 AA Change: Y103D
Domain | Start | End | E-Value | Type |
Pfam:NfI_DNAbd_pre-N
|
20 |
62 |
2.8e-28 |
PFAM |
DWA
|
83 |
175 |
1.06e-6 |
SMART |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000148982
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000135024
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000152588
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000140874
|
Meta Mutation Damage Score |
0.2745 |
Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.5%
- 10x: 96.8%
- 20x: 94.1%
|
Validation Efficiency |
97% (63/65) |
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: 60 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
4933412E24Rik |
T |
C |
15: 59,887,321 (GRCm39) |
Y373C |
probably benign |
Het |
Abca12 |
T |
G |
1: 71,341,822 (GRCm39) |
Q1046H |
probably damaging |
Het |
Adgrv1 |
A |
G |
13: 81,714,415 (GRCm39) |
F956S |
probably benign |
Het |
Alk |
A |
G |
17: 72,212,152 (GRCm39) |
V797A |
possibly damaging |
Het |
Ascl2 |
A |
G |
7: 142,522,217 (GRCm39) |
L77P |
probably benign |
Het |
Aspm |
A |
T |
1: 139,405,639 (GRCm39) |
I1509F |
probably damaging |
Het |
AY358078 |
A |
T |
14: 52,043,089 (GRCm39) |
Y259F |
unknown |
Het |
Cbs |
G |
A |
17: 31,835,126 (GRCm39) |
A450V |
probably benign |
Het |
Cdh11 |
T |
A |
8: 103,396,690 (GRCm39) |
Q213L |
possibly damaging |
Het |
Cdh26 |
C |
T |
2: 178,123,425 (GRCm39) |
R675C |
possibly damaging |
Het |
Cfap126 |
T |
C |
1: 170,953,769 (GRCm39) |
I113T |
probably damaging |
Het |
Clk4 |
A |
G |
11: 51,158,155 (GRCm39) |
D53G |
possibly damaging |
Het |
Dab1 |
T |
C |
4: 104,577,747 (GRCm39) |
L272P |
probably benign |
Het |
Dmtf1 |
A |
T |
5: 9,182,454 (GRCm39) |
|
probably null |
Het |
Dph5 |
A |
C |
3: 115,722,359 (GRCm39) |
D279A |
probably benign |
Het |
Fbxw19 |
T |
A |
9: 109,307,717 (GRCm39) |
T461S |
probably benign |
Het |
G3bp1 |
T |
C |
11: 55,389,452 (GRCm39) |
F383L |
probably damaging |
Het |
Gcg |
T |
C |
2: 62,307,282 (GRCm39) |
D93G |
probably damaging |
Het |
Gmps |
A |
G |
3: 63,901,365 (GRCm39) |
T395A |
probably damaging |
Het |
H2-Ob |
A |
G |
17: 34,461,633 (GRCm39) |
D124G |
probably damaging |
Het |
Itga8 |
G |
T |
2: 12,237,697 (GRCm39) |
A341E |
probably damaging |
Het |
Itih3 |
A |
G |
14: 30,634,831 (GRCm39) |
|
probably null |
Het |
Kcnh4 |
C |
T |
11: 100,637,758 (GRCm39) |
G633E |
probably benign |
Het |
Kif2c |
C |
T |
4: 117,029,489 (GRCm39) |
R215Q |
possibly damaging |
Het |
Letm1 |
A |
C |
5: 33,919,074 (GRCm39) |
|
probably benign |
Het |
Lypd8l |
T |
C |
11: 58,503,331 (GRCm39) |
|
probably benign |
Het |
Mmp3 |
A |
G |
9: 7,450,165 (GRCm39) |
D299G |
probably damaging |
Het |
Myh8 |
G |
T |
11: 67,189,405 (GRCm39) |
A1194S |
probably benign |
Het |
Naip2 |
A |
C |
13: 100,298,290 (GRCm39) |
I582S |
probably benign |
Het |
Nlrp4a |
T |
C |
7: 26,162,045 (GRCm39) |
|
probably benign |
Het |
Nsmce1 |
A |
T |
7: 125,071,408 (GRCm39) |
|
probably benign |
Het |
Odad2 |
T |
A |
18: 7,286,758 (GRCm39) |
I158F |
probably benign |
Het |
Or7g12 |
T |
G |
9: 18,899,551 (GRCm39) |
V89G |
probably benign |
Het |
Or7g27 |
A |
T |
9: 19,250,475 (GRCm39) |
T240S |
probably damaging |
Het |
Patj |
C |
A |
4: 98,576,393 (GRCm39) |
Q1193K |
probably damaging |
Het |
Pcdhb5 |
G |
A |
18: 37,455,596 (GRCm39) |
V659M |
probably damaging |
Het |
Pkd1l3 |
C |
G |
8: 110,350,281 (GRCm39) |
D375E |
possibly damaging |
Het |
Pmis2 |
T |
C |
7: 30,370,817 (GRCm39) |
I46V |
probably benign |
Het |
Ppp2r5e |
A |
G |
12: 75,509,216 (GRCm39) |
|
probably benign |
Het |
Prom2 |
A |
G |
2: 127,370,709 (GRCm39) |
F825S |
probably damaging |
Het |
Rab11fip2 |
G |
A |
19: 59,894,675 (GRCm39) |
A524V |
possibly damaging |
Het |
Rb1cc1 |
A |
C |
1: 6,333,491 (GRCm39) |
|
probably null |
Het |
Rwdd3 |
G |
C |
3: 120,952,668 (GRCm39) |
Q180E |
possibly damaging |
Het |
Sema6a |
G |
A |
18: 47,423,112 (GRCm39) |
|
probably null |
Het |
Sgcg |
A |
T |
14: 61,459,135 (GRCm39) |
C265S |
probably damaging |
Het |
Slc16a3 |
T |
C |
11: 120,848,878 (GRCm39) |
S445P |
possibly damaging |
Het |
Slc22a3 |
G |
A |
17: 12,677,380 (GRCm39) |
Q263* |
probably null |
Het |
Sorcs3 |
A |
G |
19: 48,736,758 (GRCm39) |
T694A |
probably benign |
Het |
Tbc1d15 |
T |
C |
10: 115,055,077 (GRCm39) |
K322E |
probably damaging |
Het |
Tecta |
G |
T |
9: 42,284,369 (GRCm39) |
F905L |
probably benign |
Het |
Tmeff1 |
A |
G |
4: 48,636,853 (GRCm39) |
I184V |
possibly damaging |
Het |
Ttf1 |
A |
G |
2: 28,955,419 (GRCm39) |
H261R |
possibly damaging |
Het |
Ttll6 |
T |
A |
11: 96,036,417 (GRCm39) |
L349M |
probably damaging |
Het |
Ubac2 |
G |
A |
14: 122,211,031 (GRCm39) |
V134M |
probably damaging |
Het |
Ubxn4 |
G |
A |
1: 128,190,641 (GRCm39) |
E256K |
probably benign |
Het |
Vmn2r25 |
T |
G |
6: 123,829,008 (GRCm39) |
I89L |
probably benign |
Het |
Vmn2r6 |
A |
C |
3: 64,463,723 (GRCm39) |
F370L |
probably damaging |
Het |
Vps13b |
T |
A |
15: 35,445,748 (GRCm39) |
Y412* |
probably null |
Het |
Zfp142 |
A |
G |
1: 74,624,570 (GRCm39) |
S85P |
possibly damaging |
Het |
Zfp516 |
G |
A |
18: 82,975,579 (GRCm39) |
|
probably null |
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 |
|
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 |
|
Predicted Primers |
PCR Primer
(F):5'- TGATGTGGTGTGGCTGAACACAAA -3'
(R):5'- TGCAGGCTCGAAAACGCAAGTA -3'
Sequencing Primer
(F):5'- TGGCTGAACACAAAGTGCTG -3'
(R):5'- ACTTTAAAAAGCATGAGAAACGAATG -3'
|
Posted On |
2013-05-23 |