Incidental Mutation 'R8916:Nfia'
| ID |
678929 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Nfia
|
| Ensembl Gene |
ENSMUSG00000028565 |
| Gene Name |
nuclear factor I/A |
| Synonyms |
1110047K16Rik, NF1-A, NF1A, 9430022M17Rik |
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R8916 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
4 |
| Chromosomal Location |
97660971-98007111 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to A
at 97888667 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Isoleucine
at position 222
(V222I)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000074899
(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
AA Change: V200I
PolyPhen 2
Score 0.286 (Sensitivity: 0.91; Specificity: 0.88)
|
| SMART Domains |
Protein: ENSMUSP00000099856
Gene: ENSMUSG00000028565
AA Change: V200I
| 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: V222I
PolyPhen 2
Score 0.242 (Sensitivity: 0.91; Specificity: 0.88)
|
| SMART Domains |
Protein: ENSMUSP00000074899
Gene: ENSMUSG00000028565
AA Change: V222I
| 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: V222I
PolyPhen 2
Score 0.048 (Sensitivity: 0.94; Specificity: 0.83)
|
| SMART Domains |
Protein: ENSMUSP00000130032
Gene: ENSMUSG00000028565
AA Change: V222I
| 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
AA Change: V222I
PolyPhen 2
Score 0.286 (Sensitivity: 0.91; Specificity: 0.88)
|
| SMART Domains |
Protein: ENSMUSP00000102677
Gene: ENSMUSG00000028565
AA Change: V222I
| 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: V52I
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
19 |
30 |
N/A |
INTRINSIC |
|
Pfam:CTF_NFI
|
45 |
274 |
1.5e-102 |
PFAM |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000152023
AA Change: V214I
PolyPhen 2
Score 0.790 (Sensitivity: 0.85; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000114880
Gene: ENSMUSG00000028565
AA Change: V214I
| 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 |
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.9%
- 20x: 99.6%
|
| 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: 63 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adamts16 |
A |
G |
13: 70,941,307 (GRCm39) |
L360S |
probably damaging |
Het |
| AW554918 |
T |
C |
18: 25,423,049 (GRCm39) |
Y167H |
probably damaging |
Het |
| Cdh18 |
A |
T |
15: 23,410,813 (GRCm39) |
I433F |
probably damaging |
Het |
| Cenpj |
A |
T |
14: 56,790,352 (GRCm39) |
F566I |
probably damaging |
Het |
| Cntn4 |
T |
A |
6: 106,652,915 (GRCm39) |
Y795N |
probably damaging |
Het |
| Col4a4 |
C |
T |
1: 82,501,667 (GRCm39) |
G362E |
unknown |
Het |
| Crebrf |
A |
G |
17: 26,958,583 (GRCm39) |
T18A |
probably damaging |
Het |
| D130043K22Rik |
G |
A |
13: 25,056,254 (GRCm39) |
V529I |
probably benign |
Het |
| Dars2 |
T |
C |
1: 160,881,552 (GRCm39) |
T326A |
probably benign |
Het |
| Eif4e |
T |
C |
3: 138,256,043 (GRCm39) |
|
probably benign |
Het |
| Enpp2 |
T |
C |
15: 54,733,722 (GRCm39) |
M413V |
possibly damaging |
Het |
| Fbn1 |
T |
C |
2: 125,245,149 (GRCm39) |
D246G |
possibly damaging |
Het |
| Foxred2 |
A |
G |
15: 77,837,514 (GRCm39) |
S241P |
probably damaging |
Het |
| Fras1 |
T |
C |
5: 96,900,774 (GRCm39) |
F2998L |
probably damaging |
Het |
| Garin4 |
A |
G |
1: 190,895,857 (GRCm39) |
I262T |
probably benign |
Het |
| Grb10 |
T |
C |
11: 11,901,599 (GRCm39) |
T192A |
probably benign |
Het |
| Grid1 |
G |
A |
14: 35,043,664 (GRCm39) |
D340N |
probably damaging |
Het |
| Heatr5a |
AGCACACTGCAGGAAGCTCACACAGCACAGCATACCTTCAGGAGTGCACACTGCAGGAAGCTCACACAGCACAGCATACCTTCAGGAGAGCACACTGCAGGAAGCTCA |
AGCACACTGCAGGAAGCTCACACAGCACAGCATACCTTCAGGAGAGCACACTGCAGGAAGCTCA |
12: 51,934,702 (GRCm39) |
|
probably benign |
Het |
| Hinfp |
A |
T |
9: 44,209,673 (GRCm39) |
F234I |
probably damaging |
Het |
| Hmcn1 |
A |
T |
1: 150,649,530 (GRCm39) |
I652N |
probably damaging |
Het |
| Kif24 |
T |
C |
4: 41,394,963 (GRCm39) |
K771E |
probably benign |
Het |
| Lhcgr |
A |
G |
17: 89,061,170 (GRCm39) |
|
probably null |
Het |
| Lnpk |
A |
T |
2: 74,358,486 (GRCm39) |
S358T |
probably benign |
Het |
| Lpcat2 |
A |
T |
8: 93,596,316 (GRCm39) |
M118L |
probably benign |
Het |
| Lypd1 |
T |
A |
1: 125,801,120 (GRCm39) |
T127S |
unknown |
Het |
| Mettl23 |
C |
T |
11: 116,740,111 (GRCm39) |
T194I |
probably damaging |
Het |
| Mga |
T |
C |
2: 119,788,819 (GRCm39) |
V2227A |
possibly damaging |
Het |
| Mus81 |
A |
T |
19: 5,534,214 (GRCm39) |
V368E |
probably damaging |
Het |
| Myo3a |
T |
A |
2: 22,457,704 (GRCm39) |
F1046I |
probably damaging |
Het |
| Niban2 |
T |
A |
2: 32,811,106 (GRCm39) |
M372K |
possibly damaging |
Het |
| Nop9 |
A |
G |
14: 55,991,101 (GRCm39) |
E586G |
probably benign |
Het |
| Nr2e1 |
G |
A |
10: 42,443,864 (GRCm39) |
A286V |
possibly damaging |
Het |
| Nup153 |
G |
A |
13: 46,863,462 (GRCm39) |
Q300* |
probably null |
Het |
| Plaat1 |
A |
G |
16: 29,039,259 (GRCm39) |
D113G |
possibly damaging |
Het |
| Pnp2 |
T |
C |
14: 51,201,234 (GRCm39) |
L202P |
probably damaging |
Het |
| Prss3b |
T |
A |
6: 41,010,103 (GRCm39) |
H77L |
probably damaging |
Het |
| Psen2 |
A |
G |
1: 180,063,495 (GRCm39) |
F183L |
probably benign |
Het |
| Rint1 |
G |
T |
5: 23,992,826 (GRCm39) |
|
probably benign |
Het |
| Rsf1 |
GGC |
GGCGGCGGCCGC |
7: 97,229,140 (GRCm39) |
|
probably benign |
Het |
| Ryr3 |
C |
A |
2: 112,608,635 (GRCm39) |
R2335L |
probably damaging |
Het |
| Scn1a |
T |
C |
2: 66,108,127 (GRCm39) |
D1544G |
probably damaging |
Het |
| Sec31b |
A |
C |
19: 44,520,783 (GRCm39) |
S175A |
|
Het |
| Sgcg |
A |
G |
14: 61,474,341 (GRCm39) |
S101P |
probably damaging |
Het |
| Shb |
A |
T |
4: 45,489,154 (GRCm39) |
S241T |
probably damaging |
Het |
| Slc47a2 |
A |
T |
11: 61,193,118 (GRCm39) |
L545Q |
probably damaging |
Het |
| Spata31g1 |
C |
A |
4: 42,973,034 (GRCm39) |
P789H |
probably damaging |
Het |
| Spef2 |
C |
A |
15: 9,725,266 (GRCm39) |
E164* |
probably null |
Het |
| Sphkap |
A |
T |
1: 83,255,108 (GRCm39) |
N880K |
possibly damaging |
Het |
| Taf2 |
A |
G |
15: 54,899,931 (GRCm39) |
V894A |
probably benign |
Het |
| Tgfa |
T |
G |
6: 86,248,436 (GRCm39) |
L146R |
probably damaging |
Het |
| Tlr3 |
C |
T |
8: 45,856,076 (GRCm39) |
V35I |
probably benign |
Het |
| Tlr4 |
G |
A |
4: 66,847,268 (GRCm39) |
V132I |
probably benign |
Het |
| Tsen34 |
C |
T |
7: 3,697,340 (GRCm39) |
|
probably benign |
Het |
| Ttc13 |
T |
G |
8: 125,409,976 (GRCm39) |
K412T |
probably damaging |
Het |
| Unc45b |
A |
G |
11: 82,804,038 (GRCm39) |
I72V |
probably benign |
Het |
| Vmn1r195 |
A |
G |
13: 22,463,139 (GRCm39) |
Y203C |
probably damaging |
Het |
| Vmn2r65 |
T |
A |
7: 84,595,665 (GRCm39) |
T340S |
probably benign |
Het |
| Vmn2r88 |
T |
A |
14: 51,648,593 (GRCm39) |
C46S |
|
Het |
| Ythdf2 |
A |
T |
4: 131,931,830 (GRCm39) |
D443E |
probably damaging |
Het |
| Zeb2 |
T |
C |
2: 44,886,796 (GRCm39) |
R754G |
probably damaging |
Het |
| Zfp236 |
T |
A |
18: 82,664,351 (GRCm39) |
E478V |
probably damaging |
Het |
| Zfp287 |
A |
T |
11: 62,605,136 (GRCm39) |
Y590* |
probably null |
Het |
| Zfp9 |
A |
T |
6: 118,442,223 (GRCm39) |
C146* |
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 |
|
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 |
|
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'- TAGGCCTCACATGCTCCATC -3'
(R):5'- TCAGCATTAGTCCTTACCATGATGC -3'
Sequencing Primer
(F):5'- ATCATAGCTTAGGCCTCACATG -3'
(R):5'- TTCCTAGCCTAGAAATACTGGC -3'
|
| Posted On |
2021-08-02 |
Incidental Mutation