Incidental Mutation 'R7246:Nfia'
| ID |
563530 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Nfia
|
| Ensembl Gene |
ENSMUSG00000028565 |
| Gene Name |
nuclear factor I/A |
| Synonyms |
1110047K16Rik, NF1-A, NF1A, 9430022M17Rik |
| MMRRC Submission |
045309-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R7246 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
4 |
| Chromosomal Location |
97660971-98007111 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to T
at 97953579 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Proline to Leucine
at position 439
(P439L)
|
| 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 |
probably damaging
Transcript: ENSMUST00000052018
AA Change: P417L
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000099856
Gene: ENSMUSG00000028565
AA Change: P417L
| 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: P439L
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000074899
Gene: ENSMUSG00000028565
AA Change: P439L
| 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: P396L
PolyPhen 2
Score 0.958 (Sensitivity: 0.78; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000130032
Gene: ENSMUSG00000028565
AA Change: P396L
| 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: P310L
|
| SMART Domains |
Protein: ENSMUSP00000102672
Gene: ENSMUSG00000028565
AA Change: P310L
| 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: P439L
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000102677
Gene: ENSMUSG00000028565
AA Change: P439L
| 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 |
unknown
Transcript: ENSMUST00000148930
AA Change: P269L
|
| SMART Domains |
Protein: ENSMUSP00000122641
Gene: ENSMUSG00000028565
AA Change: P269L
| 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 |
0.1237 |
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.6%
- 20x: 98.7%
|
| Validation Efficiency |
97% (74/76) |
| 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: 70 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4921524L21Rik |
T |
A |
18: 6,635,902 (GRCm39) |
S318R |
probably damaging |
Het |
| Abce1 |
A |
T |
8: 80,429,698 (GRCm39) |
N74K |
probably damaging |
Het |
| Akr1b7 |
T |
A |
6: 34,392,404 (GRCm39) |
D72E |
probably benign |
Het |
| Amer3 |
T |
A |
1: 34,625,809 (GRCm39) |
I16N |
possibly damaging |
Het |
| Atp6v0d1 |
T |
C |
8: 106,257,606 (GRCm39) |
N108D |
probably damaging |
Het |
| Avpr1b |
T |
C |
1: 131,528,008 (GRCm39) |
V177A |
probably damaging |
Het |
| B020011L13Rik |
A |
T |
1: 117,728,969 (GRCm39) |
K159* |
probably null |
Het |
| Bpifb1 |
T |
C |
2: 154,049,012 (GRCm39) |
L172P |
probably damaging |
Het |
| Brca1 |
G |
A |
11: 101,414,204 (GRCm39) |
T1310I |
probably benign |
Het |
| C130074G19Rik |
C |
A |
1: 184,615,166 (GRCm39) |
R8L |
probably damaging |
Het |
| Ccdc178 |
T |
C |
18: 22,242,811 (GRCm39) |
H268R |
possibly damaging |
Het |
| Cdc42ep5 |
A |
G |
7: 4,154,473 (GRCm39) |
V105A |
possibly damaging |
Het |
| Cntn4 |
T |
C |
6: 106,483,180 (GRCm39) |
L245P |
probably damaging |
Het |
| Crtac1 |
T |
C |
19: 42,276,365 (GRCm39) |
E521G |
probably benign |
Het |
| Cts7 |
T |
A |
13: 61,503,394 (GRCm39) |
N190I |
probably damaging |
Het |
| Cul7 |
A |
G |
17: 46,972,993 (GRCm39) |
E1368G |
probably benign |
Het |
| Dhrs7l |
A |
T |
12: 72,666,266 (GRCm39) |
M89K |
possibly damaging |
Het |
| Dpp10 |
G |
A |
1: 123,262,106 (GRCm39) |
P759S |
probably damaging |
Het |
| Etf1 |
A |
G |
18: 35,064,964 (GRCm39) |
S11P |
unknown |
Het |
| Exd2 |
G |
T |
12: 80,527,309 (GRCm39) |
L167F |
probably damaging |
Het |
| Exoc8 |
T |
A |
8: 125,623,156 (GRCm39) |
R404* |
probably null |
Het |
| Fat2 |
T |
C |
11: 55,187,208 (GRCm39) |
T1213A |
probably benign |
Het |
| Fgfr2 |
T |
C |
7: 129,844,136 (GRCm39) |
|
|
Het |
| Gtf3c1 |
T |
A |
7: 125,268,266 (GRCm39) |
|
|
Het |
| Id2 |
T |
A |
12: 25,145,820 (GRCm39) |
I64F |
probably damaging |
Het |
| Idh3a |
G |
T |
9: 54,499,756 (GRCm39) |
A75S |
probably damaging |
Het |
| Ift70a2 |
A |
G |
2: 75,808,023 (GRCm39) |
L163P |
probably damaging |
Het |
| Itgb8 |
C |
G |
12: 119,131,785 (GRCm39) |
G620A |
probably damaging |
Het |
| Itih5 |
T |
A |
2: 10,191,873 (GRCm39) |
|
probably null |
Het |
| Lamtor5 |
A |
T |
3: 107,189,336 (GRCm39) |
D124V |
probably damaging |
Het |
| Mast4 |
T |
C |
13: 102,930,511 (GRCm39) |
E439G |
probably damaging |
Het |
| Meltf |
T |
G |
16: 31,713,680 (GRCm39) |
L641R |
probably damaging |
Het |
| Mesd |
G |
T |
7: 83,541,420 (GRCm39) |
|
probably benign |
Het |
| Nptx1 |
A |
T |
11: 119,435,416 (GRCm39) |
|
probably null |
Het |
| Or1o3 |
A |
T |
17: 37,573,905 (GRCm39) |
C217S |
probably benign |
Het |
| Or2j6 |
T |
A |
7: 139,980,061 (GRCm39) |
R299S |
probably benign |
Het |
| Or5t7 |
A |
G |
2: 86,507,633 (GRCm39) |
F15L |
probably benign |
Het |
| Or7g29 |
G |
A |
9: 19,286,761 (GRCm39) |
Q139* |
probably null |
Het |
| Pdss2 |
T |
A |
10: 43,248,172 (GRCm39) |
H225Q |
probably benign |
Het |
| Pik3r5 |
C |
A |
11: 68,383,769 (GRCm39) |
S529R |
probably benign |
Het |
| Plxna2 |
T |
C |
1: 194,326,590 (GRCm39) |
S175P |
possibly damaging |
Het |
| Pom121l12 |
T |
A |
11: 14,549,551 (GRCm39) |
W86R |
probably benign |
Het |
| Ppid |
C |
T |
3: 79,498,740 (GRCm39) |
|
probably benign |
Het |
| Pramel7 |
T |
A |
2: 87,322,509 (GRCm39) |
D85V |
probably damaging |
Het |
| Prune2 |
C |
T |
19: 17,098,732 (GRCm39) |
T1412I |
probably damaging |
Het |
| Ptprd |
T |
C |
4: 76,046,913 (GRCm39) |
Y204C |
probably damaging |
Het |
| Rasgrp1 |
G |
A |
2: 117,168,835 (GRCm39) |
R48* |
probably null |
Het |
| Rbks |
A |
G |
5: 31,805,127 (GRCm39) |
S246P |
possibly damaging |
Het |
| Rnf113a2 |
G |
T |
12: 84,464,451 (GRCm39) |
M114I |
possibly damaging |
Het |
| Rsf1 |
GCGGCGGCG |
GCGGCGGCGCCGGCGGCG |
7: 97,229,129 (GRCm39) |
|
probably benign |
Het |
| Scara3 |
A |
G |
14: 66,169,093 (GRCm39) |
S175P |
probably damaging |
Het |
| Slc4a4 |
T |
A |
5: 89,270,262 (GRCm39) |
L261Q |
probably damaging |
Het |
| Sparcl1 |
T |
C |
5: 104,233,023 (GRCm39) |
I593V |
probably benign |
Het |
| Suclg1 |
C |
T |
6: 73,253,696 (GRCm39) |
H115Y |
unknown |
Het |
| Syde2 |
T |
A |
3: 145,694,510 (GRCm39) |
C253S |
probably benign |
Het |
| Tecrl |
A |
T |
5: 83,427,182 (GRCm39) |
I322N |
probably damaging |
Het |
| Tesmin |
C |
T |
19: 3,456,965 (GRCm39) |
A428V |
probably damaging |
Het |
| Thbd |
T |
A |
2: 148,248,405 (GRCm39) |
T488S |
probably benign |
Het |
| Tln2 |
A |
T |
9: 67,170,261 (GRCm39) |
V876E |
probably damaging |
Het |
| Ttll13 |
A |
C |
7: 79,903,911 (GRCm39) |
K280Q |
probably damaging |
Het |
| Unc13b |
T |
A |
4: 43,172,910 (GRCm39) |
I1246K |
unknown |
Het |
| Usp47 |
T |
A |
7: 111,715,116 (GRCm39) |
|
|
Het |
| Vmn1r192 |
C |
T |
13: 22,371,944 (GRCm39) |
R92Q |
probably damaging |
Het |
| Vmn2r111 |
T |
C |
17: 22,767,695 (GRCm39) |
T601A |
probably damaging |
Het |
| Vmn2r51 |
A |
G |
7: 9,836,428 (GRCm39) |
F118L |
probably benign |
Het |
| Vmn2r74 |
T |
A |
7: 85,605,173 (GRCm39) |
I492L |
probably benign |
Het |
| Vmn2r93 |
C |
T |
17: 18,546,012 (GRCm39) |
T628I |
possibly damaging |
Het |
| Vps13d |
C |
T |
4: 144,882,620 (GRCm39) |
R991K |
|
Het |
| Wdr5b |
T |
C |
16: 35,862,306 (GRCm39) |
S142P |
probably damaging |
Het |
| Zfp428 |
G |
T |
7: 24,215,069 (GRCm39) |
|
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 |
|
|
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 |
|
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'- ACCAGAGTACTCCGGACATG -3'
(R):5'- AGGTGTGAACTCAAGTGCATG -3'
Sequencing Primer
(F):5'- ACAATCACTGTGTTTCCAACGG -3'
(R):5'- GCATGGAGCATGGTAAGTAACC -3'
|
| Posted On |
2019-06-26 |
Incidental Mutation