Incidental Mutation 'IGL02705:Nfia'
ID |
304302 |
Institutional Source |
Australian Phenomics Network
(link to record)
|
Gene Symbol |
Nfia
|
Ensembl Gene |
ENSMUSG00000028565 |
Gene Name |
nuclear factor I/A |
Synonyms |
1110047K16Rik, NF1-A, NF1A, 9430022M17Rik |
Accession Numbers |
|
Essential gene? |
Essential
(E-score: 1.000)
|
Stock # |
IGL02705
|
Quality Score |
|
Status
|
|
Chromosome |
4 |
Chromosomal Location |
97660971-98007111 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to G
at 97671605 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Leucine to Arginine
at position 105
(L105R)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000102677
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000052018]
[ENSMUST00000075448]
[ENSMUST00000092532]
[ENSMUST00000107057]
[ENSMUST00000107062]
[ENSMUST00000152023]
|
AlphaFold |
no structure available at present |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000052018
AA Change: L105R
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000099856 Gene: ENSMUSG00000028565 AA Change: L105R
Domain | Start | End | E-Value | Type |
Pfam:NfI_DNAbd_pre-N
|
3 |
46 |
1.6e-31 |
PFAM |
DWA
|
67 |
175 |
2.4e-21 |
SMART |
Pfam:CTF_NFI
|
192 |
487 |
7.3e-150 |
PFAM |
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000075448
AA Change: L105R
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000074899 Gene: ENSMUSG00000028565 AA Change: L105R
Domain | Start | End | E-Value | Type |
Pfam:NfI_DNAbd_pre-N
|
6 |
46 |
5.6e-30 |
PFAM |
DWA
|
67 |
175 |
2.4e-21 |
SMART |
low complexity region
|
186 |
201 |
N/A |
INTRINSIC |
Pfam:CTF_NFI
|
214 |
508 |
1.8e-135 |
PFAM |
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000092532
AA Change: L105R
PolyPhen 2
Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
|
SMART Domains |
Protein: ENSMUSP00000130032 Gene: ENSMUSG00000028565 AA Change: L105R
Domain | Start | End | E-Value | Type |
Pfam:NfI_DNAbd_pre-N
|
3 |
46 |
1.2e-30 |
PFAM |
DWA
|
67 |
175 |
2.4e-21 |
SMART |
low complexity region
|
186 |
201 |
N/A |
INTRINSIC |
Pfam:CTF_NFI
|
214 |
318 |
4.1e-48 |
PFAM |
Pfam:CTF_NFI
|
315 |
466 |
1.5e-78 |
PFAM |
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000107057
AA Change: L105R
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000102672 Gene: ENSMUSG00000028565 AA Change: L105R
Domain | Start | End | E-Value | Type |
Pfam:NfI_DNAbd_pre-N
|
3 |
46 |
1.2e-31 |
PFAM |
DWA
|
67 |
175 |
2.4e-21 |
SMART |
Pfam:CTF_NFI
|
180 |
380 |
7.8e-96 |
PFAM |
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000107062
AA Change: L105R
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000102677 Gene: ENSMUSG00000028565 AA Change: L105R
Domain | Start | End | E-Value | Type |
Pfam:NfI_DNAbd_pre-N
|
3 |
46 |
1.7e-31 |
PFAM |
DWA
|
67 |
175 |
2.4e-21 |
SMART |
low complexity region
|
186 |
201 |
N/A |
INTRINSIC |
Pfam:CTF_NFI
|
214 |
494 |
6.2e-128 |
PFAM |
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000152023
AA Change: L97R
PolyPhen 2
Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)
|
SMART Domains |
Protein: ENSMUSP00000114880 Gene: ENSMUSG00000028565 AA Change: L97R
Domain | Start | End | E-Value | Type |
Pfam:NfI_DNAbd_pre-N
|
1 |
38 |
2.6e-28 |
PFAM |
DWA
|
59 |
167 |
2.4e-21 |
SMART |
low complexity region
|
178 |
193 |
N/A |
INTRINSIC |
Pfam:CTF_NFI
|
206 |
225 |
2.8e-8 |
PFAM |
|
Coding Region Coverage |
|
Validation Efficiency |
|
MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the NF1 (nuclear factor 1) family of transcription factors. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Sep 2011] PHENOTYPE: Homozygous null mice display perinatal lethality, hydrocephalus, agenesis of the corpus callosum and hippocampal commissure. Fertility is surviving homozygotes is compromised. A decrease in the number of heterozygous animals is associated with a maternal effect. [provided by MGI curators]
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 29 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
1700025G04Rik |
A |
G |
1: 151,791,264 (GRCm39) |
F99S |
probably damaging |
Het |
Ankrd17 |
G |
A |
5: 90,430,974 (GRCm39) |
P937S |
probably benign |
Het |
Apom |
T |
G |
17: 35,349,471 (GRCm39) |
|
probably null |
Het |
Baz2b |
A |
G |
2: 59,778,604 (GRCm39) |
I752T |
possibly damaging |
Het |
Bcat1 |
T |
C |
6: 144,964,914 (GRCm39) |
|
probably benign |
Het |
Bcl9 |
A |
G |
3: 97,112,181 (GRCm39) |
F1425L |
possibly damaging |
Het |
Bco1 |
G |
A |
8: 117,844,242 (GRCm39) |
V319M |
possibly damaging |
Het |
Dmwd |
C |
A |
7: 18,814,769 (GRCm39) |
T473K |
probably benign |
Het |
Garin4 |
T |
C |
1: 190,896,499 (GRCm39) |
Y48C |
probably damaging |
Het |
Gata2 |
C |
T |
6: 88,182,346 (GRCm39) |
A438V |
possibly damaging |
Het |
Ifnz |
A |
G |
4: 88,701,574 (GRCm39) |
|
probably benign |
Het |
Myh14 |
T |
C |
7: 44,257,960 (GRCm39) |
I1859V |
possibly damaging |
Het |
Ndn |
A |
G |
7: 61,998,856 (GRCm39) |
D234G |
probably damaging |
Het |
Nfe2l3 |
T |
C |
6: 51,410,098 (GRCm39) |
L71P |
probably damaging |
Het |
Npy2r |
T |
A |
3: 82,448,056 (GRCm39) |
T127S |
probably benign |
Het |
Or51a8 |
T |
C |
7: 102,550,449 (GRCm39) |
Y292H |
probably damaging |
Het |
Or7g12 |
T |
A |
9: 18,899,696 (GRCm39) |
N137K |
probably benign |
Het |
Ppip5k2 |
A |
T |
1: 97,686,924 (GRCm39) |
C94S |
probably damaging |
Het |
Pramel26 |
A |
G |
4: 143,537,372 (GRCm39) |
S320P |
probably damaging |
Het |
Slc1a6 |
T |
C |
10: 78,637,788 (GRCm39) |
V438A |
probably damaging |
Het |
Slc6a7 |
C |
T |
18: 61,142,500 (GRCm39) |
G71R |
probably damaging |
Het |
Styk1 |
C |
T |
6: 131,289,546 (GRCm39) |
V23I |
probably benign |
Het |
Tmprss5 |
C |
A |
9: 49,018,447 (GRCm39) |
N92K |
probably benign |
Het |
Trpm6 |
T |
G |
19: 18,754,097 (GRCm39) |
|
probably null |
Het |
Ttn |
C |
T |
2: 76,677,114 (GRCm39) |
|
probably benign |
Het |
Tut7 |
A |
G |
13: 59,937,017 (GRCm39) |
F808S |
probably damaging |
Het |
Vmn2r109 |
G |
A |
17: 20,774,062 (GRCm39) |
A431V |
probably benign |
Het |
Wdr17 |
C |
T |
8: 55,101,250 (GRCm39) |
|
probably null |
Het |
Zfp407 |
G |
T |
18: 84,577,156 (GRCm39) |
S1319* |
probably null |
Het |
|
Other mutations in Nfia |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL00904:Nfia
|
APN |
4 |
97,953,623 (GRCm39) |
missense |
probably damaging |
0.97 |
IGL02663:Nfia
|
APN |
4 |
97,929,856 (GRCm39) |
missense |
probably benign |
0.14 |
IGL02691:Nfia
|
APN |
4 |
97,970,045 (GRCm39) |
nonsense |
probably null |
|
IGL03226:Nfia
|
APN |
4 |
97,951,286 (GRCm39) |
missense |
probably damaging |
0.97 |
R0400:Nfia
|
UTSW |
4 |
97,951,373 (GRCm39) |
missense |
probably damaging |
0.96 |
R0611:Nfia
|
UTSW |
4 |
97,671,694 (GRCm39) |
missense |
possibly damaging |
0.75 |
R1568:Nfia
|
UTSW |
4 |
97,999,461 (GRCm39) |
missense |
possibly damaging |
0.93 |
R1716:Nfia
|
UTSW |
4 |
97,951,365 (GRCm39) |
missense |
probably damaging |
0.98 |
R3855:Nfia
|
UTSW |
4 |
97,951,259 (GRCm39) |
missense |
probably damaging |
1.00 |
R4038:Nfia
|
UTSW |
4 |
97,909,074 (GRCm39) |
missense |
probably damaging |
1.00 |
R4441:Nfia
|
UTSW |
4 |
97,661,150 (GRCm39) |
critical splice donor site |
probably null |
|
R4849:Nfia
|
UTSW |
4 |
97,970,048 (GRCm39) |
missense |
probably damaging |
1.00 |
R5184:Nfia
|
UTSW |
4 |
97,671,585 (GRCm39) |
missense |
probably damaging |
0.99 |
R5201:Nfia
|
UTSW |
4 |
97,999,462 (GRCm39) |
missense |
probably damaging |
0.98 |
R5254:Nfia
|
UTSW |
4 |
97,902,534 (GRCm39) |
missense |
probably damaging |
0.99 |
R5391:Nfia
|
UTSW |
4 |
97,671,538 (GRCm39) |
missense |
probably damaging |
0.96 |
R5551:Nfia
|
UTSW |
4 |
97,902,497 (GRCm39) |
missense |
probably damaging |
0.98 |
R5794:Nfia
|
UTSW |
4 |
97,671,838 (GRCm39) |
missense |
possibly damaging |
0.92 |
R5905:Nfia
|
UTSW |
4 |
97,999,488 (GRCm39) |
missense |
possibly damaging |
0.82 |
R5965:Nfia
|
UTSW |
4 |
97,999,529 (GRCm39) |
makesense |
probably null |
|
R6028:Nfia
|
UTSW |
4 |
97,999,488 (GRCm39) |
missense |
possibly damaging |
0.82 |
R7246:Nfia
|
UTSW |
4 |
97,953,579 (GRCm39) |
missense |
probably damaging |
1.00 |
R7669:Nfia
|
UTSW |
4 |
97,671,742 (GRCm39) |
missense |
probably damaging |
0.96 |
R8247:Nfia
|
UTSW |
4 |
97,953,644 (GRCm39) |
missense |
probably benign |
0.01 |
R8864:Nfia
|
UTSW |
4 |
97,951,382 (GRCm39) |
missense |
possibly damaging |
0.69 |
R8916:Nfia
|
UTSW |
4 |
97,888,667 (GRCm39) |
missense |
probably benign |
0.24 |
R9175:Nfia
|
UTSW |
4 |
97,671,362 (GRCm39) |
missense |
probably damaging |
1.00 |
R9691:Nfia
|
UTSW |
4 |
97,671,465 (GRCm39) |
missense |
probably damaging |
0.99 |
X0018:Nfia
|
UTSW |
4 |
97,929,892 (GRCm39) |
missense |
probably damaging |
0.97 |
X0019:Nfia
|
UTSW |
4 |
97,929,892 (GRCm39) |
missense |
probably damaging |
0.97 |
X0020:Nfia
|
UTSW |
4 |
97,929,892 (GRCm39) |
missense |
probably damaging |
0.97 |
X0021:Nfia
|
UTSW |
4 |
97,929,892 (GRCm39) |
missense |
probably damaging |
0.97 |
X0022:Nfia
|
UTSW |
4 |
97,929,892 (GRCm39) |
missense |
probably damaging |
0.97 |
X0023:Nfia
|
UTSW |
4 |
97,929,892 (GRCm39) |
missense |
probably damaging |
0.97 |
X0024:Nfia
|
UTSW |
4 |
97,929,892 (GRCm39) |
missense |
probably damaging |
0.97 |
X0027:Nfia
|
UTSW |
4 |
97,929,892 (GRCm39) |
missense |
probably damaging |
0.97 |
X0050:Nfia
|
UTSW |
4 |
97,929,892 (GRCm39) |
missense |
probably damaging |
0.97 |
X0052:Nfia
|
UTSW |
4 |
97,929,892 (GRCm39) |
missense |
probably damaging |
0.97 |
X0053:Nfia
|
UTSW |
4 |
97,929,892 (GRCm39) |
missense |
probably damaging |
0.97 |
X0054:Nfia
|
UTSW |
4 |
97,929,892 (GRCm39) |
missense |
probably damaging |
0.97 |
X0057:Nfia
|
UTSW |
4 |
97,929,892 (GRCm39) |
missense |
probably damaging |
0.97 |
X0058:Nfia
|
UTSW |
4 |
97,929,892 (GRCm39) |
missense |
probably damaging |
0.97 |
X0060:Nfia
|
UTSW |
4 |
97,929,892 (GRCm39) |
missense |
probably damaging |
0.97 |
X0061:Nfia
|
UTSW |
4 |
97,929,892 (GRCm39) |
missense |
probably damaging |
0.97 |
X0062:Nfia
|
UTSW |
4 |
97,929,892 (GRCm39) |
missense |
probably damaging |
0.97 |
X0063:Nfia
|
UTSW |
4 |
97,929,892 (GRCm39) |
missense |
probably damaging |
0.97 |
X0064:Nfia
|
UTSW |
4 |
97,929,892 (GRCm39) |
missense |
probably damaging |
0.97 |
X0065:Nfia
|
UTSW |
4 |
97,929,892 (GRCm39) |
missense |
probably damaging |
0.97 |
X0066:Nfia
|
UTSW |
4 |
97,929,892 (GRCm39) |
missense |
probably damaging |
0.97 |
X0067:Nfia
|
UTSW |
4 |
97,929,892 (GRCm39) |
missense |
probably damaging |
0.97 |
|
Posted On |
2015-04-16 |