Incidental Mutation 'R1568:Nfia'
| ID |
175409 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Nfia
|
| Ensembl Gene |
ENSMUSG00000028565 |
| Gene Name |
nuclear factor I/A |
| Synonyms |
9430022M17Rik, NF1-A, 1110047K16Rik, NF1A |
| MMRRC Submission |
039607-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R1568 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
4 |
| Chromosomal Location |
97772734-98118874 bp(+) (GRCm38) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to G
at 98111224 bp (GRCm38)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Tyrosine to Aspartic acid
at position 378
(Y378D)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000102672
(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: Y485D
PolyPhen 2
Score 0.817 (Sensitivity: 0.84; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000099856
Gene: ENSMUSG00000028565
AA Change: Y485D
| 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
AA Change: Y507D
PolyPhen 2
Score 0.018 (Sensitivity: 0.95; Specificity: 0.80)
|
| SMART Domains |
Protein: ENSMUSP00000074899
Gene: ENSMUSG00000028565
AA Change: Y507D
| 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
AA Change: Y464D
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000130032
Gene: ENSMUSG00000028565
AA Change: Y464D
| 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 |
possibly damaging
Transcript: ENSMUST00000107057
AA Change: Y378D
PolyPhen 2
Score 0.931 (Sensitivity: 0.81; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000102672
Gene: ENSMUSG00000028565
AA Change: Y378D
| 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 |
possibly damaging
Transcript: ENSMUST00000107062
AA Change: V476G
PolyPhen 2
Score 0.822 (Sensitivity: 0.84; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000102677
Gene: ENSMUSG00000028565
AA Change: V476G
| 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 |
|
| Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.2%
- 10x: 95.8%
- 20x: 90.9%
|
| 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: 61 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adam18 |
T |
G |
8: 24,647,783 (GRCm38) |
|
probably null |
Het |
| Adgb |
A |
T |
10: 10,442,665 (GRCm38) |
Y138* |
probably null |
Het |
| Adra1d |
T |
C |
2: 131,546,172 (GRCm38) |
R488G |
possibly damaging |
Het |
| Ahnak |
G |
A |
19: 9,002,375 (GRCm38) |
G341E |
probably damaging |
Het |
| Ankmy1 |
T |
C |
1: 92,881,116 (GRCm38) |
D690G |
probably damaging |
Het |
| Arhgef38 |
C |
T |
3: 133,132,464 (GRCm38) |
E21K |
probably damaging |
Het |
| Atp8b2 |
T |
C |
3: 89,949,848 (GRCm38) |
M402V |
probably damaging |
Het |
| Atp8b4 |
G |
T |
2: 126,325,394 (GRCm38) |
H1062N |
probably benign |
Het |
| Bdnf |
A |
G |
2: 109,723,794 (GRCm38) |
H131R |
probably damaging |
Het |
| Cblb |
C |
T |
16: 52,135,829 (GRCm38) |
T265M |
probably damaging |
Het |
| Cenpe |
T |
A |
3: 135,239,758 (GRCm38) |
M1011K |
probably benign |
Het |
| Clca2 |
A |
T |
3: 145,075,649 (GRCm38) |
Y711* |
probably null |
Het |
| Clca4a |
A |
G |
3: 144,952,929 (GRCm38) |
Y842H |
probably benign |
Het |
| Clspn |
T |
A |
4: 126,581,517 (GRCm38) |
M1021K |
probably benign |
Het |
| Cpne8 |
G |
T |
15: 90,619,642 (GRCm38) |
R107S |
probably damaging |
Het |
| D6Ertd527e |
C |
G |
6: 87,111,524 (GRCm38) |
T223S |
unknown |
Het |
| Dna2 |
C |
T |
10: 62,949,187 (GRCm38) |
R28W |
probably benign |
Het |
| Dnah5 |
T |
A |
15: 28,409,177 (GRCm38) |
N3580K |
probably damaging |
Het |
| Dsp |
T |
C |
13: 38,175,147 (GRCm38) |
I298T |
probably damaging |
Het |
| Dync2h1 |
T |
C |
9: 7,157,553 (GRCm38) |
K858R |
probably null |
Het |
| Fasn |
A |
T |
11: 120,813,249 (GRCm38) |
V1448E |
possibly damaging |
Het |
| Ghdc |
A |
G |
11: 100,768,505 (GRCm38) |
I322T |
probably benign |
Het |
| Gins2 |
T |
C |
8: 120,582,200 (GRCm38) |
D105G |
probably damaging |
Het |
| Insr |
A |
T |
8: 3,165,576 (GRCm38) |
D975E |
probably benign |
Het |
| Klrc3 |
T |
C |
6: 129,639,547 (GRCm38) |
D169G |
probably benign |
Het |
| Krt76 |
T |
A |
15: 101,885,008 (GRCm38) |
S532C |
unknown |
Het |
| Lamp3 |
A |
T |
16: 19,673,525 (GRCm38) |
M323K |
probably damaging |
Het |
| Lgmn |
T |
C |
12: 102,394,609 (GRCm38) |
I423M |
possibly damaging |
Het |
| Lpgat1 |
A |
T |
1: 191,776,426 (GRCm38) |
T359S |
possibly damaging |
Het |
| Lrguk |
T |
A |
6: 34,086,438 (GRCm38) |
I466N |
probably damaging |
Het |
| Magi3 |
A |
C |
3: 104,089,527 (GRCm38) |
M234R |
probably benign |
Het |
| Myh14 |
G |
A |
7: 44,611,698 (GRCm38) |
R1042* |
probably null |
Het |
| Npffr1 |
T |
A |
10: 61,626,233 (GRCm38) |
S383T |
possibly damaging |
Het |
| Or4f57 |
C |
A |
2: 111,960,240 (GRCm38) |
V278F |
probably benign |
Het |
| Or52n4 |
T |
A |
7: 104,644,770 (GRCm38) |
I199F |
probably benign |
Het |
| Or5b112 |
C |
A |
19: 13,342,175 (GRCm38) |
P139Q |
probably benign |
Het |
| Or9s14 |
T |
C |
1: 92,607,954 (GRCm38) |
L39P |
probably damaging |
Het |
| Osr1 |
G |
A |
12: 9,579,798 (GRCm38) |
|
probably null |
Het |
| Pde4b |
A |
C |
4: 102,597,699 (GRCm38) |
R375S |
probably damaging |
Het |
| Pde8a |
A |
G |
7: 81,292,263 (GRCm38) |
E150G |
probably damaging |
Het |
| Pkhd1l1 |
A |
T |
15: 44,545,501 (GRCm38) |
|
probably null |
Het |
| Ppp3ca |
A |
G |
3: 136,928,544 (GRCm38) |
T422A |
probably benign |
Het |
| Proser1 |
T |
C |
3: 53,477,759 (GRCm38) |
V354A |
possibly damaging |
Het |
| Rgs20 |
G |
T |
1: 5,020,827 (GRCm38) |
R127S |
probably benign |
Het |
| Sanbr |
T |
C |
11: 23,589,971 (GRCm38) |
K48E |
probably damaging |
Het |
| Sec22a |
T |
C |
16: 35,347,628 (GRCm38) |
D171G |
probably benign |
Het |
| Secisbp2 |
A |
G |
13: 51,673,107 (GRCm38) |
E417G |
possibly damaging |
Het |
| Serpinb6b |
T |
C |
13: 32,974,912 (GRCm38) |
L32S |
probably damaging |
Het |
| Sf3b1 |
C |
G |
1: 55,019,395 (GRCm38) |
E12Q |
possibly damaging |
Het |
| Slc39a10 |
A |
T |
1: 46,826,215 (GRCm38) |
S487T |
probably benign |
Het |
| Slc6a1 |
G |
T |
6: 114,307,770 (GRCm38) |
G263V |
probably damaging |
Het |
| Spag6 |
A |
G |
2: 18,733,114 (GRCm38) |
D265G |
probably benign |
Het |
| Spata31e2 |
T |
C |
1: 26,685,869 (GRCm38) |
T77A |
probably benign |
Het |
| Sybu |
G |
T |
15: 44,718,832 (GRCm38) |
S132* |
probably null |
Het |
| Virma |
T |
C |
4: 11,528,776 (GRCm38) |
S1288P |
probably damaging |
Het |
| Vmn1r229 |
T |
A |
17: 20,814,805 (GRCm38) |
V104D |
probably damaging |
Het |
| Vmn1r238 |
T |
C |
18: 3,123,358 (GRCm38) |
T19A |
probably benign |
Het |
| Vmn2r86 |
C |
T |
10: 130,453,141 (GRCm38) |
V164I |
probably benign |
Het |
| Wfdc13 |
G |
T |
2: 164,686,934 (GRCm38) |
A64S |
probably damaging |
Het |
| Zfp873 |
C |
A |
10: 82,060,279 (GRCm38) |
H318Q |
probably damaging |
Het |
| Zyg11a |
A |
G |
4: 108,183,646 (GRCm38) |
|
probably null |
Het |
|
| Other mutations in Nfia |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00904:Nfia
|
APN |
4 |
98,065,386 (GRCm38) |
missense |
probably damaging |
0.97 |
|
IGL02663:Nfia
|
APN |
4 |
98,041,619 (GRCm38) |
missense |
probably benign |
0.14 |
|
IGL02691:Nfia
|
APN |
4 |
98,081,808 (GRCm38) |
nonsense |
probably null |
|
|
IGL02705:Nfia
|
APN |
4 |
97,783,368 (GRCm38) |
missense |
probably damaging |
1.00 |
|
IGL03226:Nfia
|
APN |
4 |
98,063,049 (GRCm38) |
missense |
probably damaging |
0.97 |
|
R0400:Nfia
|
UTSW |
4 |
98,063,136 (GRCm38) |
missense |
probably damaging |
0.96 |
|
R0611:Nfia
|
UTSW |
4 |
97,783,457 (GRCm38) |
missense |
possibly damaging |
0.75 |
|
R1716:Nfia
|
UTSW |
4 |
98,063,128 (GRCm38) |
missense |
probably damaging |
0.98 |
|
R3855:Nfia
|
UTSW |
4 |
98,063,022 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R4038:Nfia
|
UTSW |
4 |
98,020,837 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R4441:Nfia
|
UTSW |
4 |
97,772,913 (GRCm38) |
critical splice donor site |
probably null |
|
|
R4849:Nfia
|
UTSW |
4 |
98,081,811 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R5184:Nfia
|
UTSW |
4 |
97,783,348 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R5201:Nfia
|
UTSW |
4 |
98,111,225 (GRCm38) |
missense |
probably damaging |
0.98 |
|
R5254:Nfia
|
UTSW |
4 |
98,014,297 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R5391:Nfia
|
UTSW |
4 |
97,783,301 (GRCm38) |
missense |
probably damaging |
0.96 |
|
R5551:Nfia
|
UTSW |
4 |
98,014,260 (GRCm38) |
missense |
probably damaging |
0.98 |
|
R5794:Nfia
|
UTSW |
4 |
97,783,601 (GRCm38) |
missense |
possibly damaging |
0.92 |
|
R5905:Nfia
|
UTSW |
4 |
98,111,251 (GRCm38) |
missense |
possibly damaging |
0.82 |
|
R5965:Nfia
|
UTSW |
4 |
98,111,292 (GRCm38) |
makesense |
probably null |
|
|
R6028:Nfia
|
UTSW |
4 |
98,111,251 (GRCm38) |
missense |
possibly damaging |
0.82 |
|
R7246:Nfia
|
UTSW |
4 |
98,065,342 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R7669:Nfia
|
UTSW |
4 |
97,783,505 (GRCm38) |
missense |
probably damaging |
0.96 |
|
R8247:Nfia
|
UTSW |
4 |
98,065,407 (GRCm38) |
missense |
probably benign |
0.01 |
|
R8864:Nfia
|
UTSW |
4 |
98,063,145 (GRCm38) |
missense |
possibly damaging |
0.69 |
|
R8916:Nfia
|
UTSW |
4 |
98,000,430 (GRCm38) |
missense |
probably benign |
0.24 |
|
R9175:Nfia
|
UTSW |
4 |
97,783,125 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R9691:Nfia
|
UTSW |
4 |
97,783,228 (GRCm38) |
missense |
probably damaging |
0.99 |
|
X0018:Nfia
|
UTSW |
4 |
98,041,655 (GRCm38) |
missense |
probably damaging |
0.97 |
|
X0019:Nfia
|
UTSW |
4 |
98,041,655 (GRCm38) |
missense |
probably damaging |
0.97 |
|
X0020:Nfia
|
UTSW |
4 |
98,041,655 (GRCm38) |
missense |
probably damaging |
0.97 |
|
X0021:Nfia
|
UTSW |
4 |
98,041,655 (GRCm38) |
missense |
probably damaging |
0.97 |
|
X0022:Nfia
|
UTSW |
4 |
98,041,655 (GRCm38) |
missense |
probably damaging |
0.97 |
|
X0023:Nfia
|
UTSW |
4 |
98,041,655 (GRCm38) |
missense |
probably damaging |
0.97 |
|
X0024:Nfia
|
UTSW |
4 |
98,041,655 (GRCm38) |
missense |
probably damaging |
0.97 |
|
X0027:Nfia
|
UTSW |
4 |
98,041,655 (GRCm38) |
missense |
probably damaging |
0.97 |
|
X0050:Nfia
|
UTSW |
4 |
98,041,655 (GRCm38) |
missense |
probably damaging |
0.97 |
|
X0052:Nfia
|
UTSW |
4 |
98,041,655 (GRCm38) |
missense |
probably damaging |
0.97 |
|
X0053:Nfia
|
UTSW |
4 |
98,041,655 (GRCm38) |
missense |
probably damaging |
0.97 |
|
X0054:Nfia
|
UTSW |
4 |
98,041,655 (GRCm38) |
missense |
probably damaging |
0.97 |
|
X0057:Nfia
|
UTSW |
4 |
98,041,655 (GRCm38) |
missense |
probably damaging |
0.97 |
|
X0058:Nfia
|
UTSW |
4 |
98,041,655 (GRCm38) |
missense |
probably damaging |
0.97 |
|
X0060:Nfia
|
UTSW |
4 |
98,041,655 (GRCm38) |
missense |
probably damaging |
0.97 |
|
X0061:Nfia
|
UTSW |
4 |
98,041,655 (GRCm38) |
missense |
probably damaging |
0.97 |
|
X0062:Nfia
|
UTSW |
4 |
98,041,655 (GRCm38) |
missense |
probably damaging |
0.97 |
|
X0063:Nfia
|
UTSW |
4 |
98,041,655 (GRCm38) |
missense |
probably damaging |
0.97 |
|
X0064:Nfia
|
UTSW |
4 |
98,041,655 (GRCm38) |
missense |
probably damaging |
0.97 |
|
X0065:Nfia
|
UTSW |
4 |
98,041,655 (GRCm38) |
missense |
probably damaging |
0.97 |
|
X0066:Nfia
|
UTSW |
4 |
98,041,655 (GRCm38) |
missense |
probably damaging |
0.97 |
|
X0067:Nfia
|
UTSW |
4 |
98,041,655 (GRCm38) |
missense |
probably damaging |
0.97 |
|
| Predicted Primers |
PCR Primer
(F):5'- AAGATAGCCAGGTTCCTTGCCCTC -3'
(R):5'- GCCTTTGCTGTTTGACCACGATG -3'
Sequencing Primer
(F):5'- ATTGGCTCACTACAGGGTTAC -3'
(R):5'- GACCACGATGTTTGCTGTTTC -3'
|
| Posted On |
2014-04-24 |
Incidental Mutation