Incidental Mutation 'R7462:Nfib'
| ID |
578494 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Nfib
|
| Ensembl Gene |
ENSMUSG00000008575 |
| Gene Name |
nuclear factor I/B |
| Synonyms |
6720429L07Rik, E030026I10Rik |
| MMRRC Submission |
045536-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R7462 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
4 |
| Chromosomal Location |
82208410-82424988 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 82271826 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamine to Arginine
at position 247
(Q247R)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000052863
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000050872]
[ENSMUST00000064770]
[ENSMUST00000107245]
[ENSMUST00000107246]
[ENSMUST00000107247]
[ENSMUST00000107248]
|
| AlphaFold |
P97863 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000050872
AA Change: Q247R
PolyPhen 2
Score 0.055 (Sensitivity: 0.94; Specificity: 0.84)
|
| SMART Domains |
Protein: ENSMUSP00000052863
Gene: ENSMUSG00000008575
AA Change: Q247R
| 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
AA Change: Q247R
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
| SMART Domains |
Protein: ENSMUSP00000067629
Gene: ENSMUSG00000008575
AA Change: Q247R
| 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 benign
Transcript: ENSMUST00000107245
AA Change: Q246R
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000102865
Gene: ENSMUSG00000008575
AA Change: Q246R
| 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
AA Change: Q246R
PolyPhen 2
Score 0.007 (Sensitivity: 0.96; Specificity: 0.75)
|
| SMART Domains |
Protein: ENSMUSP00000102866
Gene: ENSMUSG00000008575
AA Change: Q246R
| 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 benign
Transcript: ENSMUST00000107247
AA Change: Q246R
PolyPhen 2
Score 0.116 (Sensitivity: 0.93; Specificity: 0.86)
|
| SMART Domains |
Protein: ENSMUSP00000102868
Gene: ENSMUSG00000008575
AA Change: Q246R
| 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 benign
Transcript: ENSMUST00000107248
AA Change: Q246R
PolyPhen 2
Score 0.055 (Sensitivity: 0.94; Specificity: 0.84)
|
| SMART Domains |
Protein: ENSMUSP00000102869
Gene: ENSMUSG00000008575
AA Change: Q246R
| 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: 99.2%
|
| Validation Efficiency |
98% (60/61) |
| 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 |
|---|
| Ank2 |
G |
C |
3: 126,736,683 (GRCm39) |
T3067S |
unknown |
Het |
| Ankrd28 |
T |
C |
14: 31,500,886 (GRCm39) |
N35S |
probably benign |
Het |
| Bicra |
A |
T |
7: 15,713,060 (GRCm39) |
S996T |
possibly damaging |
Het |
| Btbd7 |
T |
C |
12: 102,803,981 (GRCm39) |
E353G |
possibly damaging |
Het |
| Cdhr2 |
A |
T |
13: 54,874,552 (GRCm39) |
I875F |
probably damaging |
Het |
| Ceacam5 |
A |
T |
7: 17,494,764 (GRCm39) |
Y924F |
probably damaging |
Het |
| Clca4b |
A |
G |
3: 144,628,621 (GRCm39) |
I362T |
probably benign |
Het |
| Dchs2 |
A |
G |
3: 83,253,462 (GRCm39) |
|
probably null |
Het |
| Dlc1 |
T |
A |
8: 37,405,118 (GRCm39) |
T224S |
unknown |
Het |
| Dmxl2 |
T |
C |
9: 54,273,916 (GRCm39) |
|
probably null |
Het |
| Dnajc1 |
A |
G |
2: 18,313,710 (GRCm39) |
F137S |
probably damaging |
Het |
| E130311K13Rik |
T |
C |
3: 63,836,722 (GRCm39) |
T24A |
probably benign |
Het |
| Eya1 |
T |
C |
1: 14,301,638 (GRCm39) |
E317G |
probably null |
Het |
| Fpr-rs6 |
A |
G |
17: 20,402,485 (GRCm39) |
L292P |
probably damaging |
Het |
| Gca |
G |
T |
2: 62,502,753 (GRCm39) |
D54Y |
possibly damaging |
Het |
| Gm45861 |
G |
A |
8: 28,024,517 (GRCm39) |
|
probably null |
Het |
| Gm57858 |
T |
A |
3: 36,080,055 (GRCm39) |
|
probably null |
Het |
| Gtf2a1l |
A |
G |
17: 89,001,566 (GRCm39) |
T141A |
possibly damaging |
Het |
| Hgsnat |
T |
C |
8: 26,447,241 (GRCm39) |
N351S |
probably benign |
Het |
| Htr1f |
A |
T |
16: 64,746,383 (GRCm39) |
V303E |
probably damaging |
Het |
| Iars2 |
C |
A |
1: 185,055,063 (GRCm39) |
W302L |
probably damaging |
Het |
| Igkv4-74 |
T |
A |
6: 69,162,100 (GRCm39) |
Q23L |
possibly damaging |
Het |
| Il18 |
A |
T |
9: 50,476,673 (GRCm39) |
|
probably benign |
Het |
| Ints4 |
A |
G |
7: 97,155,335 (GRCm39) |
D329G |
probably benign |
Het |
| Itsn1 |
T |
C |
16: 91,650,073 (GRCm39) |
F249S |
possibly damaging |
Het |
| Ktn1 |
A |
G |
14: 47,932,089 (GRCm39) |
E672G |
probably null |
Het |
| Lhx6 |
A |
G |
2: 35,974,083 (GRCm39) |
I359T |
possibly damaging |
Het |
| Lrp1b |
T |
C |
2: 41,003,041 (GRCm39) |
E2030G |
|
Het |
| Macf1 |
T |
A |
4: 123,386,556 (GRCm39) |
K1114N |
probably damaging |
Het |
| Mbd5 |
A |
G |
2: 49,147,892 (GRCm39) |
M701V |
possibly damaging |
Het |
| Mcemp1 |
A |
T |
8: 3,717,065 (GRCm39) |
M69L |
probably benign |
Het |
| Mfsd4b2 |
T |
A |
10: 39,797,877 (GRCm39) |
K159N |
probably benign |
Het |
| Mroh2b |
T |
A |
15: 4,938,109 (GRCm39) |
D243E |
probably damaging |
Het |
| Muc21 |
T |
C |
17: 35,931,568 (GRCm39) |
S873G |
unknown |
Het |
| Mug1 |
A |
T |
6: 121,852,399 (GRCm39) |
Q829L |
probably benign |
Het |
| Nav3 |
A |
T |
10: 109,659,439 (GRCm39) |
V726E |
probably damaging |
Het |
| Npbwr1 |
T |
C |
1: 5,987,151 (GRCm39) |
N121S |
probably damaging |
Het |
| Or1e19 |
T |
C |
11: 73,316,296 (GRCm39) |
D171G |
probably benign |
Het |
| Or52b2 |
T |
A |
7: 104,986,707 (GRCm39) |
D72V |
probably damaging |
Het |
| Or5h19 |
A |
T |
16: 58,856,379 (GRCm39) |
C240* |
probably null |
Het |
| Pkd1l3 |
A |
G |
8: 110,355,409 (GRCm39) |
S726G |
probably benign |
Het |
| Ppip5k1 |
A |
T |
2: 121,167,232 (GRCm39) |
V847D |
probably damaging |
Het |
| Ptpn18 |
G |
A |
1: 34,512,445 (GRCm39) |
D417N |
possibly damaging |
Het |
| Ripor2 |
G |
A |
13: 24,880,290 (GRCm39) |
V385M |
unknown |
Het |
| Rufy1 |
C |
T |
11: 50,298,655 (GRCm39) |
V379M |
possibly damaging |
Het |
| S100a5 |
A |
G |
3: 90,517,207 (GRCm39) |
K26R |
probably damaging |
Het |
| Sin3a |
T |
C |
9: 57,002,809 (GRCm39) |
S234P |
probably benign |
Het |
| Sirt7 |
G |
A |
11: 120,511,618 (GRCm39) |
T225I |
probably benign |
Het |
| Slc34a1 |
A |
T |
13: 24,006,401 (GRCm39) |
T476S |
probably damaging |
Het |
| Slc38a6 |
T |
A |
12: 73,397,351 (GRCm39) |
M331K |
probably benign |
Het |
| Spam1 |
T |
C |
6: 24,796,907 (GRCm39) |
I286T |
probably damaging |
Het |
| Syne1 |
T |
A |
10: 5,002,793 (GRCm39) |
I214F |
possibly damaging |
Het |
| Tmtc1 |
A |
G |
6: 148,226,643 (GRCm39) |
L427P |
probably damaging |
Het |
| Tpbg |
G |
A |
9: 85,726,903 (GRCm39) |
A291T |
possibly damaging |
Het |
| Zfp40 |
A |
G |
17: 23,397,362 (GRCm39) |
F45S |
possibly damaging |
Het |
| Zfp451 |
C |
T |
1: 33,816,094 (GRCm39) |
V619M |
probably damaging |
Het |
| Zim1 |
A |
G |
7: 6,680,811 (GRCm39) |
L284P |
probably damaging |
Het |
| Zkscan4 |
A |
G |
13: 21,668,044 (GRCm39) |
E165G |
probably benign |
Het |
| Zmynd11 |
T |
A |
13: 9,748,720 (GRCm39) |
N154Y |
probably benign |
Het |
| Zscan12 |
A |
T |
13: 21,553,457 (GRCm39) |
H427L |
possibly 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 |
|
|
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'- CTGGCAAAATTTTGAAGCATGTGTG -3'
(R):5'- GCTCAGACTTGACGAGGTTTC -3'
Sequencing Primer
(F):5'- TGTGTTGCCAGCAGAATACC -3'
(R):5'- TTATTCCTCAGCACCCATA -3'
|
| Posted On |
2019-10-07 |
Incidental Mutation