Incidental Mutation 'R4441:Nfia'
| ID |
329756 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Nfia
|
| Ensembl Gene |
ENSMUSG00000028565 |
| Gene Name |
nuclear factor I/A |
| Synonyms |
1110047K16Rik, NF1-A, NF1A, 9430022M17Rik |
| MMRRC Submission |
041706-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R4441 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
4 |
| Chromosomal Location |
97660971-98007111 bp(+) (GRCm39) |
| Type of Mutation |
critical splice donor site (2 bp from exon) |
| DNA Base Change (assembly) |
T to C
at 97661150 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000114880
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000052018]
[ENSMUST00000075448]
[ENSMUST00000092532]
[ENSMUST00000107057]
[ENSMUST00000107062]
[ENSMUST00000152023]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000052018
|
| SMART Domains |
Protein: ENSMUSP00000099856
Gene: ENSMUSG00000028565
| 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 benign
Transcript: ENSMUST00000075448
|
| SMART Domains |
Protein: ENSMUSP00000074899
Gene: ENSMUSG00000028565
| 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 benign
Transcript: ENSMUST00000092532
|
| SMART Domains |
Protein: ENSMUSP00000130032
Gene: ENSMUSG00000028565
| 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 benign
Transcript: ENSMUST00000107057
|
| SMART Domains |
Protein: ENSMUSP00000102672
Gene: ENSMUSG00000028565
| 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 benign
Transcript: ENSMUST00000107062
|
| SMART Domains |
Protein: ENSMUSP00000102677
Gene: ENSMUSG00000028565
| 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 benign
Transcript: ENSMUST00000146447
|
| SMART Domains |
Protein: ENSMUSP00000121284
Gene: ENSMUSG00000048747
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
114 |
126 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000147069
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000152023
|
| SMART Domains |
Protein: ENSMUSP00000114880
Gene: ENSMUSG00000028565
| 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 |
|
| Meta Mutation Damage Score |
0.9487 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.5%
- 10x: 97.1%
- 20x: 94.8%
|
| Validation Efficiency |
96% (53/55) |
| 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: 44 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca16 |
A |
T |
7: 120,127,024 (GRCm39) |
R1238S |
probably benign |
Het |
| Ankmy1 |
A |
T |
1: 92,816,383 (GRCm39) |
Y244N |
possibly damaging |
Het |
| Asxl3 |
C |
T |
18: 22,657,290 (GRCm39) |
P1767S |
probably damaging |
Het |
| C1qtnf7 |
A |
T |
5: 43,766,612 (GRCm39) |
K70N |
possibly damaging |
Het |
| Cibar1 |
A |
G |
4: 12,157,733 (GRCm39) |
M261T |
probably damaging |
Het |
| Fam78b |
C |
A |
1: 166,906,491 (GRCm39) |
Q217K |
probably damaging |
Het |
| Garem1 |
T |
C |
18: 21,301,807 (GRCm39) |
T127A |
possibly damaging |
Het |
| Gls |
A |
T |
1: 52,235,322 (GRCm39) |
|
probably null |
Het |
| Gm12790 |
A |
C |
4: 101,825,337 (GRCm39) |
S26A |
probably damaging |
Het |
| Gm136 |
T |
C |
4: 34,755,911 (GRCm39) |
D34G |
probably benign |
Het |
| Gmds |
A |
G |
13: 32,124,461 (GRCm39) |
|
probably null |
Het |
| Hdac9 |
G |
T |
12: 34,439,375 (GRCm39) |
H401N |
probably damaging |
Het |
| Hmcn1 |
T |
C |
1: 150,533,210 (GRCm39) |
I3026V |
probably null |
Het |
| Igkv6-20 |
A |
T |
6: 70,313,101 (GRCm39) |
M24K |
probably damaging |
Het |
| Ilf2 |
T |
C |
3: 90,394,769 (GRCm39) |
L339P |
probably benign |
Het |
| Insr |
T |
A |
8: 3,244,902 (GRCm39) |
K501N |
probably benign |
Het |
| Lyst |
G |
A |
13: 13,809,968 (GRCm39) |
R546H |
probably damaging |
Het |
| Mcm5 |
T |
C |
8: 75,839,172 (GRCm39) |
S142P |
probably benign |
Het |
| Mcpt9 |
A |
G |
14: 56,265,009 (GRCm39) |
V164A |
probably damaging |
Het |
| Ncapd3 |
T |
A |
9: 26,962,941 (GRCm39) |
D415E |
possibly damaging |
Het |
| Nipbl |
G |
C |
15: 8,396,142 (GRCm39) |
Q144E |
probably damaging |
Het |
| Or51g1 |
A |
T |
7: 102,633,516 (GRCm39) |
V285E |
possibly damaging |
Het |
| Or51q1c |
T |
G |
7: 103,653,279 (GRCm39) |
F266V |
probably damaging |
Het |
| Or6z5 |
T |
C |
7: 6,477,924 (GRCm39) |
S272P |
probably benign |
Het |
| Pcdhgb8 |
A |
G |
18: 37,896,114 (GRCm39) |
I395V |
possibly damaging |
Het |
| Plcz1 |
T |
A |
6: 139,936,413 (GRCm39) |
L605F |
probably benign |
Het |
| Prph |
G |
A |
15: 98,955,005 (GRCm39) |
S325N |
probably damaging |
Het |
| Ptpn23 |
A |
G |
9: 110,221,793 (GRCm39) |
M131T |
probably benign |
Het |
| Rab3ip |
T |
G |
10: 116,751,837 (GRCm39) |
D278A |
probably benign |
Het |
| Rasgrf2 |
T |
C |
13: 92,131,797 (GRCm39) |
D620G |
possibly damaging |
Het |
| Rbm5 |
A |
G |
9: 107,626,887 (GRCm39) |
|
probably benign |
Het |
| Rc3h2 |
A |
G |
2: 37,304,526 (GRCm39) |
|
probably null |
Het |
| Saxo5 |
C |
T |
8: 3,526,105 (GRCm39) |
S86L |
probably damaging |
Het |
| Tbxa2r |
T |
C |
10: 81,168,925 (GRCm39) |
S205P |
probably damaging |
Het |
| Tenm4 |
A |
G |
7: 96,545,022 (GRCm39) |
N2375S |
probably benign |
Het |
| Tespa1 |
C |
T |
10: 130,197,826 (GRCm39) |
R283C |
probably damaging |
Het |
| Tle2 |
A |
G |
10: 81,417,516 (GRCm39) |
E227G |
possibly damaging |
Het |
| Tnik |
A |
G |
3: 28,618,246 (GRCm39) |
I266V |
possibly damaging |
Het |
| Tnn |
T |
G |
1: 159,943,650 (GRCm39) |
E1054D |
probably benign |
Het |
| Tns2 |
C |
T |
15: 102,017,369 (GRCm39) |
R281C |
probably damaging |
Het |
| Trpm1 |
A |
G |
7: 63,851,666 (GRCm39) |
D12G |
probably damaging |
Het |
| Vrk3 |
C |
T |
7: 44,424,866 (GRCm39) |
T427M |
probably benign |
Het |
| Wdr7 |
T |
A |
18: 63,888,281 (GRCm39) |
Y585N |
probably damaging |
Het |
| Zgrf1 |
T |
A |
3: 127,379,786 (GRCm39) |
N223K |
possibly damaging |
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 |
|
|
IGL02705:Nfia
|
APN |
4 |
97,671,605 (GRCm39) |
missense |
probably damaging |
1.00 |
|
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 |
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- CATCCTTGGTAGAAGCCTTTTGATTTG -3'
(R):5'- CGATCTCTCTGCTGCACATAAC -3'
Sequencing Primer
(F):5'- GGGTTTTCAACGGTTCCA -3'
(R):5'- GATCCACAAAGCTGCATCTTTAAAAG -3'
|
| Posted On |
2015-07-21 |
Incidental Mutation