Incidental Mutation 'R4433:Nfib'
ID |
328687 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Nfib
|
Ensembl Gene |
ENSMUSG00000008575 |
Gene Name |
nuclear factor I/B |
Synonyms |
6720429L07Rik, E030026I10Rik |
MMRRC Submission |
041147-MU
|
Accession Numbers |
|
Essential gene? |
Essential
(E-score: 1.000)
|
Stock # |
R4433 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
4 |
Chromosomal Location |
82208410-82424988 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
C to T
at 82416672 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Arginine to Glutamine
at position 137
(R137Q)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000123169
(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: R122Q
PolyPhen 2
Score 0.988 (Sensitivity: 0.73; Specificity: 0.96)
|
SMART Domains |
Protein: ENSMUSP00000052863 Gene: ENSMUSG00000008575 AA Change: R122Q
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: R122Q
PolyPhen 2
Score 0.988 (Sensitivity: 0.73; Specificity: 0.96)
|
SMART Domains |
Protein: ENSMUSP00000067629 Gene: ENSMUSG00000008575 AA Change: R122Q
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: R121Q
PolyPhen 2
Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
|
SMART Domains |
Protein: ENSMUSP00000102865 Gene: ENSMUSG00000008575 AA Change: R121Q
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: R121Q
PolyPhen 2
Score 0.988 (Sensitivity: 0.73; Specificity: 0.96)
|
SMART Domains |
Protein: ENSMUSP00000102866 Gene: ENSMUSG00000008575 AA Change: R121Q
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: R121Q
PolyPhen 2
Score 0.988 (Sensitivity: 0.73; Specificity: 0.96)
|
SMART Domains |
Protein: ENSMUSP00000102868 Gene: ENSMUSG00000008575 AA Change: R121Q
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: R121Q
PolyPhen 2
Score 0.988 (Sensitivity: 0.73; Specificity: 0.96)
|
SMART Domains |
Protein: ENSMUSP00000102869 Gene: ENSMUSG00000008575 AA Change: R121Q
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 damaging
Transcript: ENSMUST00000155821
AA Change: R137Q
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000123169 Gene: ENSMUSG00000008575 AA Change: R137Q
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: ENSMUST00000135024
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000148982
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000140874
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000152588
|
Meta Mutation Damage Score |
0.6483 |
Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.5%
- 10x: 97.0%
- 20x: 94.7%
|
Validation Efficiency |
98% (59/60) |
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: 55 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abcc5 |
A |
T |
16: 20,186,937 (GRCm39) |
|
probably null |
Het |
Acsm2 |
A |
G |
7: 119,153,732 (GRCm39) |
H14R |
unknown |
Het |
Adamtsl4 |
T |
C |
3: 95,589,069 (GRCm39) |
|
probably null |
Het |
Ak5 |
A |
G |
3: 152,361,517 (GRCm39) |
I135T |
probably damaging |
Het |
Alk |
G |
T |
17: 72,206,236 (GRCm39) |
S1038* |
probably null |
Het |
Ank2 |
A |
T |
3: 126,741,455 (GRCm39) |
|
probably benign |
Het |
Ap2m1 |
A |
T |
16: 20,362,134 (GRCm39) |
H414L |
possibly damaging |
Het |
Atp13a5 |
A |
T |
16: 29,100,842 (GRCm39) |
M649K |
probably damaging |
Het |
Atp4a |
G |
A |
7: 30,419,650 (GRCm39) |
R671Q |
probably benign |
Het |
Calhm6 |
T |
A |
10: 34,003,827 (GRCm39) |
T27S |
probably damaging |
Het |
Cdc25b |
A |
G |
2: 131,033,618 (GRCm39) |
S186G |
probably benign |
Het |
Ceacam16 |
A |
G |
7: 19,587,514 (GRCm39) |
V418A |
possibly damaging |
Het |
Cntnap3 |
A |
C |
13: 64,926,667 (GRCm39) |
S568A |
possibly damaging |
Het |
Col24a1 |
G |
T |
3: 145,020,144 (GRCm39) |
V172F |
possibly damaging |
Het |
Dynlt4 |
C |
T |
4: 116,985,320 (GRCm39) |
R48C |
probably damaging |
Het |
Eef2 |
CCC |
CCCC |
10: 81,014,602 (GRCm39) |
|
probably null |
Het |
Esp36 |
T |
A |
17: 38,729,847 (GRCm39) |
T15S |
unknown |
Het |
Fat2 |
A |
T |
11: 55,200,466 (GRCm39) |
H869Q |
possibly damaging |
Het |
Fat3 |
A |
G |
9: 15,942,448 (GRCm39) |
V1308A |
probably damaging |
Het |
Gimap3 |
T |
C |
6: 48,742,880 (GRCm39) |
T17A |
possibly damaging |
Het |
Hnrnpr |
A |
G |
4: 136,044,459 (GRCm39) |
K13R |
probably benign |
Het |
Hycc1 |
A |
C |
5: 24,184,579 (GRCm39) |
C218G |
possibly damaging |
Het |
Kdr |
A |
G |
5: 76,104,585 (GRCm39) |
M1133T |
possibly damaging |
Het |
Mgarp |
A |
G |
3: 51,303,681 (GRCm39) |
|
probably benign |
Het |
Neto2 |
G |
A |
8: 86,367,712 (GRCm39) |
T337I |
probably damaging |
Het |
Nherf4 |
T |
C |
9: 44,159,285 (GRCm39) |
*499W |
probably null |
Het |
Nr3c2 |
A |
G |
8: 77,944,096 (GRCm39) |
E890G |
probably damaging |
Het |
Nsun4 |
A |
G |
4: 115,897,327 (GRCm39) |
V228A |
possibly damaging |
Het |
Nt5c1a |
T |
A |
4: 123,109,689 (GRCm39) |
S263T |
probably benign |
Het |
Ntm |
A |
T |
9: 28,923,516 (GRCm39) |
Y45* |
probably null |
Het |
Nts |
A |
G |
10: 102,320,888 (GRCm39) |
V67A |
probably benign |
Het |
Or1e19 |
A |
T |
11: 73,316,537 (GRCm39) |
S91T |
possibly damaging |
Het |
Or1e25 |
A |
G |
11: 73,493,712 (GRCm39) |
Y102C |
probably damaging |
Het |
Or4g7 |
T |
A |
2: 111,309,757 (GRCm39) |
C209* |
probably null |
Het |
Or51ag1 |
T |
A |
7: 103,155,346 (GRCm39) |
K269M |
probably benign |
Het |
Ostm1 |
C |
A |
10: 42,555,119 (GRCm39) |
A47E |
probably benign |
Het |
Otol1 |
G |
A |
3: 69,925,881 (GRCm39) |
V19M |
probably benign |
Het |
Pcdhb15 |
A |
G |
18: 37,608,565 (GRCm39) |
N599S |
probably damaging |
Het |
Pcdhgb1 |
T |
C |
18: 37,814,304 (GRCm39) |
I265T |
probably damaging |
Het |
Pex14 |
T |
C |
4: 149,045,967 (GRCm39) |
E321G |
possibly damaging |
Het |
Phactr3 |
C |
A |
2: 177,924,925 (GRCm39) |
R251S |
probably damaging |
Het |
Pkdcc |
C |
T |
17: 83,528,570 (GRCm39) |
T313M |
probably benign |
Het |
Plce1 |
A |
T |
19: 38,755,745 (GRCm39) |
E1911V |
probably damaging |
Het |
Ptprv |
G |
T |
1: 135,042,308 (GRCm39) |
|
noncoding transcript |
Het |
Rab36 |
G |
A |
10: 74,880,328 (GRCm39) |
V63I |
probably damaging |
Het |
Rhob |
A |
G |
12: 8,549,533 (GRCm39) |
Y34H |
possibly damaging |
Het |
Slc27a3 |
G |
A |
3: 90,294,647 (GRCm39) |
T408M |
probably damaging |
Het |
Slc9c1 |
A |
T |
16: 45,419,829 (GRCm39) |
I1000F |
possibly damaging |
Het |
Tcf7 |
G |
T |
11: 52,152,442 (GRCm39) |
P36T |
probably benign |
Het |
Tcf7l1 |
C |
G |
6: 72,765,752 (GRCm39) |
E62Q |
probably damaging |
Het |
Tll2 |
A |
G |
19: 41,109,787 (GRCm39) |
S326P |
probably benign |
Het |
Tubgcp4 |
A |
G |
2: 121,014,954 (GRCm39) |
N288S |
probably benign |
Het |
Zfhx3 |
G |
A |
8: 109,682,269 (GRCm39) |
R3236H |
unknown |
Het |
Zfp764l1 |
T |
G |
7: 126,992,174 (GRCm39) |
Q87P |
possibly damaging |
Het |
Zgrf1 |
A |
G |
3: 127,355,727 (GRCm39) |
T318A |
probably benign |
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 |
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'- TATGCGCAGTGTTTACCATGC -3'
(R):5'- TGAGAAGCCCGAAATCAAGC -3'
Sequencing Primer
(F):5'- CGCAGTGTTTACCATGCTAGAAG -3'
(R):5'- TCAAGCAGAAGTGGGCATCC -3'
|
Posted On |
2015-07-21 |