Incidental Mutation 'R8864:Nfia'
| ID |
675804 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Nfia
|
| Ensembl Gene |
ENSMUSG00000028565 |
| Gene Name |
nuclear factor I/A |
| Synonyms |
1110047K16Rik, NF1-A, NF1A, 9430022M17Rik |
| MMRRC Submission |
068680-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R8864 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
4 |
| Chromosomal Location |
97660971-98007111 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 97951382 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Alanine
at position 403
(V403A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000074899
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000052018]
[ENSMUST00000075448]
[ENSMUST00000092532]
[ENSMUST00000107057]
[ENSMUST00000107062]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000052018
AA Change: V381A
PolyPhen 2
Score 0.736 (Sensitivity: 0.85; Specificity: 0.92)
|
| SMART Domains |
Protein: ENSMUSP00000099856
Gene: ENSMUSG00000028565
AA Change: V381A
| 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 |
possibly damaging
Transcript: ENSMUST00000075448
AA Change: V403A
PolyPhen 2
Score 0.690 (Sensitivity: 0.86; Specificity: 0.92)
|
| SMART Domains |
Protein: ENSMUSP00000074899
Gene: ENSMUSG00000028565
AA Change: V403A
| 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 |
possibly damaging
Transcript: ENSMUST00000092532
AA Change: V360A
PolyPhen 2
Score 0.455 (Sensitivity: 0.89; Specificity: 0.90)
|
| SMART Domains |
Protein: ENSMUSP00000130032
Gene: ENSMUSG00000028565
AA Change: V360A
| 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 |
unknown
Transcript: ENSMUST00000107057
AA Change: V274A
|
| SMART Domains |
Protein: ENSMUSP00000102672
Gene: ENSMUSG00000028565
AA Change: V274A
| 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: V403A
PolyPhen 2
Score 0.963 (Sensitivity: 0.78; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000102677
Gene: ENSMUSG00000028565
AA Change: V403A
| 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 |
|
| SMART Domains |
Protein: ENSMUSP00000122641
Gene: ENSMUSG00000028565
AA Change: V233A
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
19 |
30 |
N/A |
INTRINSIC |
|
Pfam:CTF_NFI
|
45 |
274 |
1.5e-102 |
PFAM |
|
| Meta Mutation Damage Score |
0.1312 |
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.6%
- 20x: 98.7%
|
| Validation Efficiency |
100% (41/41) |
| 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: 41 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adamts19 |
T |
A |
18: 59,023,497 (GRCm39) |
C297* |
probably null |
Het |
| Adamts3 |
T |
C |
5: 89,854,981 (GRCm39) |
|
probably benign |
Het |
| Best2 |
T |
A |
8: 85,735,942 (GRCm39) |
M331L |
probably benign |
Het |
| Cachd1 |
T |
A |
4: 100,852,026 (GRCm39) |
S1207R |
probably damaging |
Het |
| Cacna2d3 |
G |
T |
14: 29,055,735 (GRCm39) |
N298K |
probably damaging |
Het |
| Cyp2j12 |
T |
C |
4: 96,009,750 (GRCm39) |
Y203C |
probably damaging |
Het |
| Dnah8 |
T |
C |
17: 30,981,616 (GRCm39) |
I3046T |
possibly damaging |
Het |
| Eif3b |
T |
C |
5: 140,412,287 (GRCm39) |
V252A |
probably benign |
Het |
| Ergic2 |
A |
G |
6: 148,083,393 (GRCm39) |
V355A |
probably benign |
Het |
| F13a1 |
C |
T |
13: 37,061,753 (GRCm39) |
G670D |
probably damaging |
Het |
| Gfpt1 |
T |
A |
6: 87,031,605 (GRCm39) |
D82E |
probably benign |
Het |
| Ggnbp2 |
G |
A |
11: 84,730,902 (GRCm39) |
R376C |
probably damaging |
Het |
| Grn |
T |
C |
11: 102,327,211 (GRCm39) |
F191L |
unknown |
Het |
| Ighv1-16 |
C |
T |
12: 114,629,619 (GRCm39) |
G56D |
probably benign |
Het |
| Jrkl |
T |
C |
9: 13,244,326 (GRCm39) |
D445G |
probably benign |
Het |
| Loxl3 |
A |
G |
6: 83,012,739 (GRCm39) |
T93A |
probably damaging |
Het |
| Lrp1b |
C |
T |
2: 41,002,718 (GRCm39) |
A2094T |
|
Het |
| Lrriq3 |
T |
A |
3: 154,893,575 (GRCm39) |
D425E |
probably damaging |
Het |
| Majin |
T |
C |
19: 6,261,650 (GRCm39) |
V55A |
possibly damaging |
Het |
| Mapk8ip3 |
A |
T |
17: 25,118,492 (GRCm39) |
V1192E |
probably damaging |
Het |
| Mdga1 |
T |
C |
17: 30,150,295 (GRCm39) |
S106G |
unknown |
Het |
| Mtch2 |
C |
T |
2: 90,685,274 (GRCm39) |
R135* |
probably null |
Het |
| Naip1 |
T |
C |
13: 100,562,828 (GRCm39) |
N779S |
possibly damaging |
Het |
| Npas4 |
C |
A |
19: 5,038,556 (GRCm39) |
D121Y |
probably damaging |
Het |
| Rab3gap1 |
C |
T |
1: 127,837,630 (GRCm39) |
R231W |
probably damaging |
Het |
| Rangap1 |
C |
G |
15: 81,610,270 (GRCm39) |
|
probably benign |
Het |
| Rgs5 |
T |
A |
1: 169,517,990 (GRCm39) |
F75I |
probably benign |
Het |
| Rnf19a |
T |
C |
15: 36,265,452 (GRCm39) |
D215G |
possibly damaging |
Het |
| Rwdd4a |
A |
T |
8: 48,000,876 (GRCm39) |
|
probably benign |
Het |
| Setd5 |
G |
A |
6: 113,088,469 (GRCm39) |
R199H |
probably damaging |
Het |
| Spata31e1 |
T |
C |
13: 49,940,988 (GRCm39) |
N241D |
probably benign |
Het |
| Spef2 |
T |
C |
15: 9,599,833 (GRCm39) |
Q2004R |
unknown |
Het |
| Syne1 |
T |
C |
10: 5,370,473 (GRCm39) |
K236E |
probably benign |
Het |
| Tas2r104 |
A |
G |
6: 131,662,632 (GRCm39) |
F26L |
possibly damaging |
Het |
| Tbc1d32 |
T |
A |
10: 55,963,655 (GRCm39) |
E954D |
probably benign |
Het |
| Tenm2 |
A |
C |
11: 35,918,022 (GRCm39) |
S1914A |
possibly damaging |
Het |
| Tln2 |
G |
T |
9: 67,237,834 (GRCm39) |
Y32* |
probably null |
Het |
| Tnc |
C |
T |
4: 63,911,296 (GRCm39) |
R1425H |
probably damaging |
Het |
| Unc13b |
T |
C |
4: 43,174,724 (GRCm39) |
C1851R |
unknown |
Het |
| Wapl |
T |
A |
14: 34,414,159 (GRCm39) |
D340E |
probably benign |
Het |
| Zfp74 |
T |
C |
7: 29,634,235 (GRCm39) |
E491G |
probably 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 |
|
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 |
|
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'- TTTCTCCAAACCCCTGACGG -3'
(R):5'- TTTAAATCCCGGCCAATCCC -3'
Sequencing Primer
(F):5'- AAACCCCTGACGGTTGCTG -3'
(R):5'- ATATGACATTTGCCTGCAGTCAGTC -3'
|
| Posted On |
2021-07-15 |
Incidental Mutation