Incidental Mutation 'R4373:Nfib'
ID |
326051 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Nfib
|
Ensembl Gene |
ENSMUSG00000008575 |
Gene Name |
nuclear factor I/B |
Synonyms |
6720429L07Rik, E030026I10Rik |
MMRRC Submission |
041675-MU
|
Accession Numbers |
|
Essential gene? |
Essential
(E-score: 1.000)
|
Stock # |
R4373 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
4 |
Chromosomal Location |
82208410-82424988 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 82241895 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Valine to Alanine
at position 432
(V432A)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000102869
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000050872]
[ENSMUST00000064770]
[ENSMUST00000107245]
[ENSMUST00000107246]
[ENSMUST00000107247]
[ENSMUST00000107248]
|
AlphaFold |
P97863 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000050872
AA Change: V433A
PolyPhen 2
Score 0.972 (Sensitivity: 0.77; Specificity: 0.96)
|
SMART Domains |
Protein: ENSMUSP00000052863 Gene: ENSMUSG00000008575 AA Change: V433A
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 damaging
Transcript: ENSMUST00000107245
AA Change: V432A
PolyPhen 2
Score 0.972 (Sensitivity: 0.77; Specificity: 0.96)
|
SMART Domains |
Protein: ENSMUSP00000102865 Gene: ENSMUSG00000008575 AA Change: V432A
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
|
SMART Domains |
Protein: ENSMUSP00000102866 Gene: ENSMUSG00000008575
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: V432A
PolyPhen 2
Score 0.972 (Sensitivity: 0.77; Specificity: 0.96)
|
SMART Domains |
Protein: ENSMUSP00000102868 Gene: ENSMUSG00000008575 AA Change: V432A
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: V432A
PolyPhen 2
Score 0.972 (Sensitivity: 0.77; Specificity: 0.96)
|
SMART Domains |
Protein: ENSMUSP00000102869 Gene: ENSMUSG00000008575 AA Change: V432A
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 |
noncoding transcript
Transcript: ENSMUST00000140874
|
Meta Mutation Damage Score |
0.1251 |
Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.2%
- 20x: 94.9%
|
Validation Efficiency |
98% (54/55) |
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: 50 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Adck5 |
A |
G |
15: 76,478,535 (GRCm39) |
|
probably benign |
Het |
Akr1b1 |
A |
C |
6: 34,281,202 (GRCm39) |
|
probably benign |
Het |
Armh4 |
T |
A |
14: 50,007,893 (GRCm39) |
T527S |
probably damaging |
Het |
Asns |
A |
T |
6: 7,677,978 (GRCm39) |
S367T |
probably damaging |
Het |
BC034090 |
T |
C |
1: 155,101,904 (GRCm39) |
N120S |
probably benign |
Het |
Bub1 |
A |
T |
2: 127,647,156 (GRCm39) |
|
probably benign |
Het |
Csf1 |
T |
A |
3: 107,664,055 (GRCm39) |
T38S |
probably damaging |
Het |
Ctsz |
T |
C |
2: 174,270,378 (GRCm39) |
E268G |
possibly damaging |
Het |
Dach1 |
G |
A |
14: 98,065,186 (GRCm39) |
T685I |
possibly damaging |
Het |
Dclre1a |
A |
G |
19: 56,533,874 (GRCm39) |
L240S |
probably benign |
Het |
Ercc1 |
G |
A |
7: 19,081,057 (GRCm39) |
|
probably benign |
Het |
Esam |
C |
T |
9: 37,445,492 (GRCm39) |
T71I |
probably benign |
Het |
Espl1 |
A |
G |
15: 102,221,424 (GRCm39) |
I944V |
probably damaging |
Het |
Gde1 |
A |
G |
7: 118,297,781 (GRCm39) |
L35P |
possibly damaging |
Het |
Gm10382 |
A |
G |
5: 125,466,647 (GRCm39) |
|
probably benign |
Het |
H2-M10.6 |
T |
C |
17: 37,123,958 (GRCm39) |
Y141H |
probably damaging |
Het |
Hk1 |
C |
A |
10: 62,151,319 (GRCm39) |
K10N |
probably damaging |
Het |
Lamc3 |
A |
G |
2: 31,788,244 (GRCm39) |
K135E |
probably damaging |
Het |
Lrtm2 |
A |
G |
6: 119,297,489 (GRCm39) |
F184S |
probably damaging |
Het |
Marchf11 |
A |
G |
15: 26,309,532 (GRCm39) |
E62G |
probably damaging |
Het |
Mtcl1 |
T |
A |
17: 66,687,074 (GRCm39) |
T611S |
probably benign |
Het |
Myc |
A |
T |
15: 61,861,513 (GRCm39) |
H373L |
probably damaging |
Het |
Myh6 |
T |
A |
14: 55,199,565 (GRCm39) |
I249F |
probably damaging |
Het |
Naaa |
T |
C |
5: 92,426,002 (GRCm39) |
|
probably benign |
Het |
Nmt1 |
A |
G |
11: 102,934,026 (GRCm39) |
K55R |
probably damaging |
Het |
Opa3 |
C |
T |
7: 18,978,699 (GRCm39) |
R55W |
probably damaging |
Het |
Or4c122 |
T |
C |
2: 89,079,589 (GRCm39) |
R150G |
possibly damaging |
Het |
Pfn4 |
T |
A |
12: 4,820,182 (GRCm39) |
D10E |
probably damaging |
Het |
Pld5 |
T |
A |
1: 175,967,583 (GRCm39) |
I91F |
probably damaging |
Het |
Plec |
A |
C |
15: 76,067,317 (GRCm39) |
S1350A |
probably damaging |
Het |
Polq |
G |
T |
16: 36,833,543 (GRCm39) |
V79F |
probably damaging |
Het |
Ppp1r16b |
T |
C |
2: 158,603,685 (GRCm39) |
Y537H |
probably damaging |
Het |
Prdm8 |
T |
C |
5: 98,334,367 (GRCm39) |
S645P |
probably damaging |
Het |
Rgs1 |
T |
C |
1: 144,123,644 (GRCm39) |
T94A |
probably benign |
Het |
Rpl11 |
G |
A |
4: 135,778,454 (GRCm39) |
|
probably benign |
Het |
Sanbr |
A |
T |
11: 23,565,265 (GRCm39) |
|
probably null |
Het |
Scamp3 |
G |
A |
3: 89,089,234 (GRCm39) |
|
probably null |
Het |
Sgsm1 |
TTTTATATT |
TTT |
5: 113,405,989 (GRCm39) |
|
probably benign |
Het |
Sirpb1b |
A |
T |
3: 15,613,821 (GRCm39) |
I87K |
probably damaging |
Het |
Slc14a2 |
G |
A |
18: 78,250,283 (GRCm39) |
R62C |
probably damaging |
Het |
Stat4 |
T |
C |
1: 52,111,100 (GRCm39) |
|
probably null |
Het |
Tex9 |
A |
T |
9: 72,387,877 (GRCm39) |
|
probably null |
Het |
Tsku |
T |
C |
7: 98,002,038 (GRCm39) |
T98A |
probably benign |
Het |
Ttc23l |
CT |
CTTGGATT |
15: 10,537,648 (GRCm39) |
|
probably benign |
Het |
Ttc23l |
G |
A |
15: 10,537,652 (GRCm39) |
S206L |
probably benign |
Het |
Vmn2r116 |
A |
C |
17: 23,620,395 (GRCm39) |
I710L |
probably benign |
Het |
Vmn2r16 |
A |
T |
5: 109,511,667 (GRCm39) |
I625F |
probably damaging |
Het |
Xpo4 |
G |
A |
14: 57,828,479 (GRCm39) |
Q794* |
probably null |
Het |
Zfp112 |
T |
A |
7: 23,824,473 (GRCm39) |
I147N |
probably damaging |
Het |
Zmiz1 |
T |
C |
14: 25,636,434 (GRCm39) |
S140P |
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 |
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'- CCAGAACGTCCCTGTGTTTG -3'
(R):5'- ACATTGATCAGCTCCCAGC -3'
Sequencing Primer
(F):5'- GTGTTTGCCACCTTGGATCATATATC -3'
(R):5'- CAGCGCAGGCCTGAGAG -3'
|
Posted On |
2015-07-06 |