Incidental Mutation 'R5965:Nfia'
| ID |
472009 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Nfia
|
| Ensembl Gene |
ENSMUSG00000028565 |
| Gene Name |
nuclear factor I/A |
| Synonyms |
1110047K16Rik, NF1-A, NF1A, 9430022M17Rik |
| MMRRC Submission |
044150-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R5965 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
4 |
| Chromosomal Location |
97660971-98007111 bp(+) (GRCm39) |
| Type of Mutation |
makesense |
| DNA Base Change (assembly) |
T to C
at 97999529 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Stop codon to Glutamine
at position 499
(*499Q)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000102677
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000052018]
[ENSMUST00000075448]
[ENSMUST00000092532]
[ENSMUST00000107057]
[ENSMUST00000107062]
|
| 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 null
Transcript: ENSMUST00000107062
AA Change: *499Q
|
| SMART Domains |
Protein: ENSMUSP00000102677
Gene: ENSMUSG00000028565
AA Change: *499Q
| 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 |
|
| Meta Mutation Damage Score |
0.8640 |
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.6%
- 10x: 98.1%
- 20x: 94.1%
|
| Validation Efficiency |
98% (80/82) |
| 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: 69 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adgrf3 |
T |
A |
5: 30,410,637 (GRCm39) |
T23S |
probably benign |
Het |
| Armc2 |
A |
G |
10: 41,798,568 (GRCm39) |
I747T |
possibly damaging |
Het |
| Cacna1c |
T |
A |
6: 118,579,261 (GRCm39) |
H1729L |
probably damaging |
Het |
| Crebbp |
A |
G |
16: 3,905,525 (GRCm39) |
|
probably benign |
Het |
| Cyp4f17 |
T |
A |
17: 32,743,611 (GRCm39) |
M326K |
probably damaging |
Het |
| Dchs1 |
T |
G |
7: 105,405,132 (GRCm39) |
D2470A |
probably damaging |
Het |
| Ddhd2 |
T |
C |
8: 26,225,804 (GRCm39) |
T518A |
probably damaging |
Het |
| Derl2 |
T |
C |
11: 70,905,378 (GRCm39) |
T109A |
probably benign |
Het |
| Dnah7b |
T |
C |
1: 46,402,147 (GRCm39) |
L3994P |
probably damaging |
Het |
| Dock10 |
T |
C |
1: 80,546,461 (GRCm39) |
|
probably null |
Het |
| Dync1h1 |
T |
A |
12: 110,599,212 (GRCm39) |
S1856T |
probably benign |
Het |
| Ehd2 |
T |
C |
7: 15,685,999 (GRCm39) |
K358E |
possibly damaging |
Het |
| Enpp2 |
A |
G |
15: 54,746,367 (GRCm39) |
|
probably null |
Het |
| Esco1 |
T |
C |
18: 10,593,867 (GRCm39) |
E473G |
possibly damaging |
Het |
| Exoc5 |
A |
G |
14: 49,272,388 (GRCm39) |
F342S |
probably damaging |
Het |
| Fam186a |
T |
A |
15: 99,842,978 (GRCm39) |
T1089S |
probably benign |
Het |
| Fanca |
T |
C |
8: 124,043,149 (GRCm39) |
D79G |
possibly damaging |
Het |
| Gabrb2 |
A |
G |
11: 42,517,696 (GRCm39) |
Y506C |
probably damaging |
Het |
| Galntl6 |
T |
C |
8: 58,310,565 (GRCm39) |
T379A |
probably benign |
Het |
| Garin2 |
T |
A |
12: 78,757,080 (GRCm39) |
N12K |
unknown |
Het |
| Gm34768 |
A |
G |
2: 11,913,316 (GRCm39) |
|
noncoding transcript |
Het |
| Gps2 |
A |
G |
11: 69,805,620 (GRCm39) |
E46G |
possibly damaging |
Het |
| Gsdmc |
T |
C |
15: 63,676,447 (GRCm39) |
|
probably null |
Het |
| Gys1 |
C |
T |
7: 45,104,763 (GRCm39) |
T666I |
probably benign |
Het |
| Hsd17b11 |
T |
A |
5: 104,169,651 (GRCm39) |
|
probably benign |
Het |
| Iffo1 |
T |
A |
6: 125,129,471 (GRCm39) |
|
probably benign |
Het |
| Ighv1-51 |
T |
C |
12: 115,095,177 (GRCm39) |
|
noncoding transcript |
Het |
| Kansl3 |
T |
A |
1: 36,384,601 (GRCm39) |
|
probably null |
Het |
| Kdm3a |
A |
G |
6: 71,598,364 (GRCm39) |
I174T |
probably benign |
Het |
| Klhl26 |
A |
T |
8: 70,905,381 (GRCm39) |
D95E |
probably damaging |
Het |
| Lair1 |
T |
C |
7: 4,032,023 (GRCm39) |
D28G |
possibly damaging |
Het |
| Lama3 |
A |
G |
18: 12,562,944 (GRCm39) |
D489G |
possibly damaging |
Het |
| Lamb3 |
A |
T |
1: 193,025,768 (GRCm39) |
I1153F |
probably damaging |
Het |
| Lsp1 |
T |
A |
7: 142,044,161 (GRCm39) |
|
probably null |
Het |
| Man1a |
A |
G |
10: 53,809,586 (GRCm39) |
|
probably benign |
Het |
| Mcam |
A |
C |
9: 44,047,925 (GRCm39) |
S57R |
probably damaging |
Het |
| Mrgprf |
C |
A |
7: 144,861,168 (GRCm39) |
|
probably benign |
Het |
| Nmbr |
C |
A |
10: 14,642,554 (GRCm39) |
R38S |
probably benign |
Het |
| Or12e7 |
T |
G |
2: 87,288,381 (GRCm39) |
F291V |
probably benign |
Het |
| Or51a25 |
C |
A |
7: 102,373,467 (GRCm39) |
V77L |
probably benign |
Het |
| Or5h23 |
T |
C |
16: 58,906,666 (GRCm39) |
Y60C |
probably damaging |
Het |
| P3h1 |
C |
T |
4: 119,105,424 (GRCm39) |
H741Y |
probably benign |
Het |
| Parp4 |
A |
T |
14: 56,861,489 (GRCm39) |
M941L |
probably benign |
Het |
| Phaf1 |
T |
C |
8: 105,961,171 (GRCm39) |
F69L |
probably damaging |
Het |
| Pik3c3 |
C |
T |
18: 30,431,633 (GRCm39) |
T331M |
probably damaging |
Het |
| Prkg1 |
T |
C |
19: 30,701,556 (GRCm39) |
|
probably null |
Het |
| Qsox2 |
A |
T |
2: 26,112,233 (GRCm39) |
V103D |
probably benign |
Het |
| Ranbp1 |
T |
C |
16: 18,063,092 (GRCm39) |
T95A |
probably damaging |
Het |
| Ric1 |
G |
A |
19: 29,548,171 (GRCm39) |
D280N |
probably damaging |
Het |
| Scd1 |
A |
G |
19: 44,388,579 (GRCm39) |
|
probably null |
Het |
| Serpinb3c |
A |
G |
1: 107,204,653 (GRCm39) |
I31T |
probably benign |
Het |
| Slc7a11 |
T |
A |
3: 50,333,593 (GRCm39) |
Y386F |
probably benign |
Het |
| Smtnl2 |
A |
T |
11: 72,291,279 (GRCm39) |
|
probably null |
Het |
| Snx2 |
G |
T |
18: 53,327,534 (GRCm39) |
E87* |
probably null |
Het |
| Tars2 |
A |
C |
3: 95,655,464 (GRCm39) |
|
probably null |
Het |
| Tax1bp1 |
C |
A |
6: 52,706,317 (GRCm39) |
T106N |
probably damaging |
Het |
| Tcof1 |
A |
G |
18: 60,966,490 (GRCm39) |
|
probably null |
Het |
| Tenm3 |
C |
A |
8: 48,681,543 (GRCm39) |
E2680* |
probably null |
Het |
| Thap7 |
C |
T |
16: 17,348,611 (GRCm39) |
|
probably benign |
Het |
| Thoc6 |
T |
A |
17: 23,889,842 (GRCm39) |
I23F |
possibly damaging |
Het |
| Tmem185b |
T |
G |
1: 119,454,294 (GRCm39) |
Y18* |
probably null |
Het |
| Trav6-1 |
A |
C |
14: 52,876,254 (GRCm39) |
Y58S |
probably damaging |
Het |
| Trbv16 |
A |
T |
6: 41,128,989 (GRCm39) |
I58F |
probably benign |
Het |
| Ubtfl1 |
T |
A |
9: 18,320,838 (GRCm39) |
M122K |
probably benign |
Het |
| Vps13a |
T |
C |
19: 16,596,392 (GRCm39) |
|
probably null |
Het |
| Zdhhc24 |
T |
G |
19: 4,933,778 (GRCm39) |
D278E |
probably benign |
Het |
| Zfp316 |
T |
C |
5: 143,250,427 (GRCm39) |
|
probably null |
Het |
| Zfyve9 |
T |
C |
4: 108,548,878 (GRCm39) |
T769A |
possibly damaging |
Het |
| Znhit6 |
T |
A |
3: 145,284,103 (GRCm39) |
N96K |
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 |
|
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 |
|
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'- TGTGCACTGGATCACTGTGG -3'
(R):5'- TTCCAGCACCATGAGAAATTACGAC -3'
Sequencing Primer
(F):5'- GGCCTTGCTCATACTAGCCAAG -3'
(R):5'- TGAGAAATTACGACAGTCCCTAAAG -3'
|
| Posted On |
2017-03-31 |
Incidental Mutation