Incidental Mutation 'R7465:Nfib'
| ID |
578689 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Nfib
|
| Ensembl Gene |
ENSMUSG00000008575 |
| Gene Name |
nuclear factor I/B |
| Synonyms |
6720429L07Rik, E030026I10Rik |
| MMRRC Submission |
045539-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R7465 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
4 |
| Chromosomal Location |
82208410-82424988 bp(-) (GRCm39) |
| Type of Mutation |
critical splice donor site (2 bp from exon) |
| DNA Base Change (assembly) |
A to G
at 82271758 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000052863
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000050872]
[ENSMUST00000064770]
[ENSMUST00000107245]
[ENSMUST00000107246]
[ENSMUST00000107247]
[ENSMUST00000107248]
|
| AlphaFold |
P97863 |
| Predicted Effect |
probably null
Transcript: ENSMUST00000050872
|
| SMART Domains |
Protein: ENSMUSP00000052863
Gene: ENSMUSG00000008575
| 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 null
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 null
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 null
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 null
Transcript: ENSMUST00000107247
|
| SMART Domains |
Protein: ENSMUSP00000102868
Gene: ENSMUSG00000008575
| 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 null
Transcript: ENSMUST00000107248
|
| SMART Domains |
Protein: ENSMUSP00000102869
Gene: ENSMUSG00000008575
| 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 |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.7%
- 20x: 99.0%
|
| Validation Efficiency |
100% (59/59) |
| 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: 56 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Agtr1a |
A |
T |
13: 30,565,964 (GRCm39) |
D343V |
probably benign |
Het |
| Anks1 |
G |
A |
17: 28,273,297 (GRCm39) |
R972Q |
possibly damaging |
Het |
| Atp2a2 |
T |
C |
5: 122,599,763 (GRCm39) |
K543E |
probably benign |
Het |
| Atp8b5 |
G |
A |
4: 43,271,269 (GRCm39) |
V4I |
probably benign |
Het |
| Bcar3 |
A |
T |
3: 122,316,879 (GRCm39) |
N617Y |
probably benign |
Het |
| Blm |
A |
G |
7: 80,162,863 (GRCm39) |
S163P |
probably benign |
Het |
| Cbx3 |
A |
G |
6: 51,455,510 (GRCm39) |
D87G |
probably benign |
Het |
| Celsr1 |
A |
G |
15: 85,917,593 (GRCm39) |
S127P |
probably benign |
Het |
| Cndp1 |
A |
T |
18: 84,637,666 (GRCm39) |
M356K |
probably damaging |
Het |
| Cnn2 |
G |
A |
10: 79,828,361 (GRCm39) |
E113K |
probably damaging |
Het |
| Col17a1 |
T |
A |
19: 47,656,544 (GRCm39) |
R573* |
probably null |
Het |
| Cttnbp2 |
T |
A |
6: 18,501,991 (GRCm39) |
E49V |
probably damaging |
Het |
| Dipk1a |
T |
C |
5: 108,057,550 (GRCm39) |
D336G |
probably damaging |
Het |
| Dynlrb2 |
T |
A |
8: 117,241,696 (GRCm39) |
V80E |
possibly damaging |
Het |
| Ehbp1 |
A |
G |
11: 22,088,001 (GRCm39) |
V386A |
probably benign |
Het |
| Elfn1 |
C |
T |
5: 139,957,842 (GRCm39) |
P282L |
probably benign |
Het |
| Fan1 |
G |
A |
7: 64,003,386 (GRCm39) |
T812I |
probably benign |
Het |
| Fan1 |
T |
A |
7: 64,022,234 (GRCm39) |
N340Y |
probably damaging |
Het |
| Fat1 |
G |
A |
8: 45,497,189 (GRCm39) |
V4225I |
probably benign |
Het |
| Frem1 |
A |
G |
4: 82,833,072 (GRCm39) |
C1873R |
probably benign |
Het |
| Fsd1l |
T |
C |
4: 53,647,755 (GRCm39) |
I66T |
probably benign |
Het |
| Gabrr1 |
C |
A |
4: 33,146,970 (GRCm39) |
D52E |
probably benign |
Het |
| Il18rap |
T |
C |
1: 40,582,249 (GRCm39) |
L390P |
probably damaging |
Het |
| Il27ra |
T |
A |
8: 84,766,241 (GRCm39) |
D181V |
probably benign |
Het |
| Irgq |
C |
A |
7: 24,233,834 (GRCm39) |
H558Q |
probably damaging |
Het |
| Itsn2 |
C |
T |
12: 4,756,983 (GRCm39) |
Q1358* |
probably null |
Het |
| Kmt2c |
C |
T |
5: 25,507,847 (GRCm39) |
G3197S |
probably damaging |
Het |
| Lrrk2 |
A |
G |
15: 91,651,543 (GRCm39) |
Y1733C |
probably damaging |
Het |
| Mapk7 |
G |
A |
11: 61,381,279 (GRCm39) |
A510V |
probably damaging |
Het |
| Mtch1 |
A |
T |
17: 29,551,698 (GRCm39) |
C385S |
probably benign |
Het |
| Nostrin |
C |
T |
2: 69,015,851 (GRCm39) |
T448M |
possibly damaging |
Het |
| Or12j4 |
T |
A |
7: 140,046,711 (GRCm39) |
V199D |
probably damaging |
Het |
| Or4c12b |
T |
C |
2: 89,646,880 (GRCm39) |
L64P |
probably damaging |
Het |
| Or52e18 |
A |
G |
7: 104,609,124 (GRCm39) |
Y272H |
probably benign |
Het |
| Or5a3 |
T |
A |
19: 12,400,509 (GRCm39) |
Y279N |
probably damaging |
Het |
| Or5an10 |
T |
C |
19: 12,275,801 (GRCm39) |
I232V |
probably benign |
Het |
| Or8k28 |
A |
G |
2: 86,286,150 (GRCm39) |
V155A |
probably benign |
Het |
| Pcdha2 |
T |
C |
18: 37,073,383 (GRCm39) |
V338A |
probably damaging |
Het |
| Pcdhgc3 |
A |
G |
18: 37,940,798 (GRCm39) |
T400A |
probably benign |
Het |
| Piezo2 |
C |
T |
18: 63,145,794 (GRCm39) |
S2710N |
probably benign |
Het |
| Ppp4r1 |
T |
A |
17: 66,138,015 (GRCm39) |
Y591* |
probably null |
Het |
| Ptpn18 |
G |
A |
1: 34,512,445 (GRCm39) |
D417N |
possibly damaging |
Het |
| Rab42 |
T |
C |
4: 132,029,925 (GRCm39) |
E99G |
possibly damaging |
Het |
| Rd3l |
A |
T |
12: 111,945,916 (GRCm39) |
W188R |
probably damaging |
Het |
| Sap30bp |
A |
G |
11: 115,842,794 (GRCm39) |
D89G |
probably benign |
Het |
| Sptbn4 |
T |
C |
7: 27,066,114 (GRCm39) |
T1985A |
probably benign |
Het |
| Tec |
T |
C |
5: 72,931,223 (GRCm39) |
Y247C |
probably damaging |
Het |
| Tek |
G |
A |
4: 94,716,063 (GRCm39) |
|
probably null |
Het |
| Tex14 |
T |
C |
11: 87,405,256 (GRCm39) |
S723P |
possibly damaging |
Het |
| Thumpd3 |
T |
A |
6: 113,024,592 (GRCm39) |
L62Q |
probably damaging |
Het |
| Tlr12 |
A |
T |
4: 128,509,963 (GRCm39) |
D762E |
probably damaging |
Het |
| Tmem94 |
G |
T |
11: 115,677,082 (GRCm39) |
R118L |
possibly damaging |
Het |
| Txndc16 |
T |
A |
14: 45,402,845 (GRCm39) |
I316F |
probably damaging |
Het |
| Vamp1 |
T |
C |
6: 125,195,538 (GRCm39) |
S2P |
unknown |
Het |
| Vmn1r211 |
T |
A |
13: 23,036,086 (GRCm39) |
M194L |
probably benign |
Het |
| Zfp874a |
T |
A |
13: 67,590,376 (GRCm39) |
Q436L |
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 |
|
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'- CAGGATCATATGTCATGCCATAAG -3'
(R):5'- AAGAGAGTTCTTGCCCTGAGC -3'
Sequencing Primer
(F):5'- AAAACGTCATACTTCATTTCCCC -3'
(R):5'- TGAACAGAGGTAACAATGAGTATCAC -3'
|
| Posted On |
2019-10-07 |
Incidental Mutation