Incidental Mutation 'R0975:Nfix'
| ID |
81075 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Nfix
|
| Ensembl Gene |
ENSMUSG00000001911 |
| Gene Name |
nuclear factor I/X |
| Synonyms |
|
| MMRRC Submission |
039104-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.373)
|
| Stock # |
R0975 (G1)
|
| Quality Score |
221 |
|
Status
|
Validated
|
| Chromosome |
8 |
| Chromosomal Location |
85431341-85527086 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to A
at 85453155 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Arginine to Cysteine
at position 300
(R300C)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000115691
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000076715]
[ENSMUST00000098571]
[ENSMUST00000099070]
[ENSMUST00000109762]
[ENSMUST00000109764]
[ENSMUST00000126806]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000076715
AA Change: R300C
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000076005
Gene: ENSMUSG00000001911
AA Change: R300C
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:NfI_DNAbd_pre-N
|
3 |
46 |
4.1e-30 |
PFAM |
|
DWA
|
67 |
175 |
1.86e-18 |
SMART |
|
low complexity region
|
188 |
199 |
N/A |
INTRINSIC |
|
Pfam:CTF_NFI
|
213 |
322 |
7.4e-32 |
PFAM |
|
Pfam:CTF_NFI
|
313 |
396 |
3.8e-19 |
PFAM |
|
| Predicted Effect |
silent
Transcript: ENSMUST00000098571
|
| SMART Domains |
Protein: ENSMUSP00000096170
Gene: ENSMUSG00000074203
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
21 |
31 |
N/A |
INTRINSIC |
|
low complexity region
|
34 |
51 |
N/A |
INTRINSIC |
|
low complexity region
|
73 |
85 |
N/A |
INTRINSIC |
|
low complexity region
|
91 |
103 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000099070
AA Change: R300C
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000096669
Gene: ENSMUSG00000001911
AA Change: R300C
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:NfI_DNAbd_pre-N
|
3 |
46 |
4.7e-30 |
PFAM |
|
DWA
|
67 |
175 |
1.86e-18 |
SMART |
|
low complexity region
|
188 |
199 |
N/A |
INTRINSIC |
|
Pfam:CTF_NFI
|
213 |
437 |
2.7e-58 |
PFAM |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000109762
AA Change: R291C
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000105384
Gene: ENSMUSG00000001911
AA Change: R291C
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:NfI_DNAbd_pre-N
|
1 |
38 |
1.1e-27 |
PFAM |
|
DWA
|
59 |
167 |
1.86e-18 |
SMART |
|
low complexity region
|
180 |
191 |
N/A |
INTRINSIC |
|
Pfam:CTF_NFI
|
205 |
312 |
5.4e-32 |
PFAM |
|
Pfam:CTF_NFI
|
305 |
387 |
3.6e-19 |
PFAM |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000109764
AA Change: R292C
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000105386
Gene: ENSMUSG00000001911
AA Change: R292C
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:NfI_DNAbd_pre-N
|
1 |
38 |
1e-28 |
PFAM |
|
DWA
|
59 |
167 |
1.86e-18 |
SMART |
|
low complexity region
|
180 |
191 |
N/A |
INTRINSIC |
|
Pfam:CTF_NFI
|
205 |
494 |
9.8e-137 |
PFAM |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000126806
AA Change: R300C
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000115691
Gene: ENSMUSG00000001911
AA Change: R300C
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:NfI_DNAbd_pre-N
|
3 |
46 |
7.1e-31 |
PFAM |
|
DWA
|
67 |
175 |
1.86e-18 |
SMART |
|
low complexity region
|
188 |
199 |
N/A |
INTRINSIC |
|
Pfam:CTF_NFI
|
213 |
488 |
1.5e-83 |
PFAM |
|
| Meta Mutation Damage Score |
0.3011 |
| Coding Region Coverage |
- 1x: 99.5%
- 3x: 98.9%
- 10x: 97.6%
- 20x: 95.8%
|
| Validation Efficiency |
98% (52/53) |
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is a transcription factor that binds the palindromic sequence 5'-TTGGCNNNNNGCCAA-3 in viral and cellular promoters. The encoded protein can also stimulate adenovirus replication in vitro. Three transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Aug 2012]
PHENOTYPE: Mice homozygous for a mutation in this gene display postnatal lethality, hydrocephalus, partial agenesis of the corpus callosum, deformation of the spine due to delayed vertebral body ossification, degeneration of intervertebral disks, decreased mineralization and impaired endochondral ossification. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 52 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adam34l |
A |
G |
8: 44,078,155 (GRCm39) |
F690L |
probably benign |
Het |
| Ampd2 |
T |
C |
3: 107,984,437 (GRCm39) |
Y464C |
probably damaging |
Het |
| Arap2 |
A |
T |
5: 62,888,229 (GRCm39) |
|
probably benign |
Het |
| Arhgap5 |
T |
G |
12: 52,563,927 (GRCm39) |
N299K |
possibly damaging |
Het |
| Atl3 |
G |
A |
19: 7,498,500 (GRCm39) |
W210* |
probably null |
Het |
| Bag1 |
T |
C |
4: 40,937,152 (GRCm39) |
N320D |
probably benign |
Het |
| Ccdc39 |
T |
C |
3: 33,898,274 (GRCm39) |
N24D |
probably damaging |
Het |
| Ccdc88b |
G |
A |
19: 6,823,993 (GRCm39) |
P1420L |
probably damaging |
Het |
| Cdr2 |
G |
A |
7: 120,557,614 (GRCm39) |
P304S |
probably benign |
Het |
| Col20a1 |
A |
T |
2: 180,648,619 (GRCm39) |
I969F |
possibly damaging |
Het |
| Coro1c |
C |
G |
5: 114,020,182 (GRCm39) |
R11P |
probably damaging |
Het |
| Cracd |
T |
C |
5: 77,004,165 (GRCm39) |
|
probably benign |
Het |
| Cul7 |
T |
A |
17: 46,974,116 (GRCm39) |
L1467H |
probably damaging |
Het |
| Cyp2c67 |
T |
G |
19: 39,597,622 (GRCm39) |
K459Q |
possibly damaging |
Het |
| Cyp2c68 |
T |
C |
19: 39,691,802 (GRCm39) |
T374A |
possibly damaging |
Het |
| Efcab6 |
T |
A |
15: 83,857,532 (GRCm39) |
N289I |
probably benign |
Het |
| Elmo1 |
T |
A |
13: 20,435,307 (GRCm39) |
I126N |
probably damaging |
Het |
| Esr2 |
C |
T |
12: 76,192,082 (GRCm39) |
M315I |
possibly damaging |
Het |
| Fbxw14 |
T |
A |
9: 109,100,307 (GRCm39) |
N449I |
probably benign |
Het |
| Frmpd1 |
C |
T |
4: 45,279,000 (GRCm39) |
T575I |
probably benign |
Het |
| Gm14403 |
T |
G |
2: 177,201,217 (GRCm39) |
N145K |
probably damaging |
Het |
| Gnl2 |
A |
G |
4: 124,942,171 (GRCm39) |
D392G |
probably damaging |
Het |
| Hmcn1 |
A |
C |
1: 150,453,128 (GRCm39) |
S5396A |
probably benign |
Het |
| Hoxd12 |
G |
T |
2: 74,506,278 (GRCm39) |
R230L |
probably damaging |
Het |
| Khsrp |
T |
A |
17: 57,334,066 (GRCm39) |
D154V |
possibly damaging |
Het |
| Klhl28 |
C |
T |
12: 64,998,462 (GRCm39) |
R344H |
possibly damaging |
Het |
| Klhl3 |
C |
T |
13: 58,161,677 (GRCm39) |
V473M |
possibly damaging |
Het |
| Larp1b |
A |
G |
3: 40,924,925 (GRCm39) |
E134G |
probably damaging |
Het |
| Mcm9 |
G |
A |
10: 53,414,742 (GRCm39) |
Q113* |
probably null |
Het |
| Mug1 |
A |
T |
6: 121,855,498 (GRCm39) |
D944V |
probably damaging |
Het |
| Myh6 |
A |
G |
14: 55,190,826 (GRCm39) |
S950P |
probably damaging |
Het |
| Or1n1b |
C |
A |
2: 36,780,562 (GRCm39) |
M99I |
possibly damaging |
Het |
| Or5k14 |
T |
A |
16: 58,693,513 (GRCm39) |
|
probably null |
Het |
| Plcb4 |
T |
C |
2: 135,829,832 (GRCm39) |
|
probably benign |
Het |
| Pomt1 |
T |
A |
2: 32,143,907 (GRCm39) |
|
probably null |
Het |
| Prpf8 |
T |
C |
11: 75,399,500 (GRCm39) |
|
probably benign |
Het |
| Rad9b |
C |
T |
5: 122,472,320 (GRCm39) |
|
probably null |
Het |
| Recql5 |
A |
C |
11: 115,814,082 (GRCm39) |
D240E |
probably damaging |
Het |
| Sec31a |
A |
C |
5: 100,543,763 (GRCm39) |
|
probably null |
Het |
| Slc5a4b |
A |
G |
10: 75,917,241 (GRCm39) |
V265A |
probably benign |
Het |
| Snx29 |
A |
T |
16: 11,165,735 (GRCm39) |
D7V |
possibly damaging |
Het |
| Stk31 |
C |
G |
6: 49,400,343 (GRCm39) |
D389E |
probably damaging |
Het |
| Tmeff2 |
T |
C |
1: 50,977,364 (GRCm39) |
|
probably benign |
Het |
| Tmem131 |
C |
T |
1: 36,893,966 (GRCm39) |
A146T |
probably damaging |
Het |
| Tmem63c |
T |
A |
12: 87,121,843 (GRCm39) |
|
probably benign |
Het |
| Tonsl |
T |
A |
15: 76,523,132 (GRCm39) |
D119V |
probably damaging |
Het |
| Trmt10a |
G |
A |
3: 137,862,570 (GRCm39) |
E287K |
probably benign |
Het |
| Vmn1r192 |
T |
A |
13: 22,371,633 (GRCm39) |
M196L |
probably damaging |
Het |
| Vmn2r9 |
T |
G |
5: 108,991,169 (GRCm39) |
T731P |
probably damaging |
Het |
| Wfdc6b |
G |
A |
2: 164,455,705 (GRCm39) |
M11I |
probably damaging |
Het |
| Ypel1 |
T |
A |
16: 16,925,077 (GRCm39) |
T32S |
probably benign |
Het |
| Zfp827 |
A |
G |
8: 79,787,814 (GRCm39) |
T327A |
probably benign |
Het |
|
| Other mutations in Nfix |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00913:Nfix
|
APN |
8 |
85,453,106 (GRCm39) |
missense |
probably damaging |
0.99 |
|
IGL01919:Nfix
|
APN |
8 |
85,453,103 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01950:Nfix
|
APN |
8 |
85,440,415 (GRCm39) |
makesense |
probably null |
|
|
IGL02862:Nfix
|
APN |
8 |
85,440,475 (GRCm39) |
missense |
probably benign |
0.07 |
|
R0142:Nfix
|
UTSW |
8 |
85,448,315 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0309:Nfix
|
UTSW |
8 |
85,448,403 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0600:Nfix
|
UTSW |
8 |
85,453,155 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0622:Nfix
|
UTSW |
8 |
85,453,111 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R0628:Nfix
|
UTSW |
8 |
85,453,155 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0882:Nfix
|
UTSW |
8 |
85,454,554 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0893:Nfix
|
UTSW |
8 |
85,453,155 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0973:Nfix
|
UTSW |
8 |
85,453,155 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0973:Nfix
|
UTSW |
8 |
85,453,155 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0974:Nfix
|
UTSW |
8 |
85,453,155 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1014:Nfix
|
UTSW |
8 |
85,453,155 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1015:Nfix
|
UTSW |
8 |
85,453,155 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1162:Nfix
|
UTSW |
8 |
85,453,155 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1241:Nfix
|
UTSW |
8 |
85,453,155 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1381:Nfix
|
UTSW |
8 |
85,453,155 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1513:Nfix
|
UTSW |
8 |
85,453,155 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1521:Nfix
|
UTSW |
8 |
85,453,155 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1618:Nfix
|
UTSW |
8 |
85,453,155 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1865:Nfix
|
UTSW |
8 |
85,498,904 (GRCm39) |
missense |
possibly damaging |
0.73 |
|
R1912:Nfix
|
UTSW |
8 |
85,448,306 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1974:Nfix
|
UTSW |
8 |
85,453,155 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2208:Nfix
|
UTSW |
8 |
85,442,876 (GRCm39) |
frame shift |
probably null |
|
|
R2251:Nfix
|
UTSW |
8 |
85,442,799 (GRCm39) |
missense |
probably benign |
0.03 |
|
R2268:Nfix
|
UTSW |
8 |
85,442,876 (GRCm39) |
frame shift |
probably null |
|
|
R2270:Nfix
|
UTSW |
8 |
85,442,876 (GRCm39) |
frame shift |
probably null |
|
|
R2272:Nfix
|
UTSW |
8 |
85,453,804 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2346:Nfix
|
UTSW |
8 |
85,442,876 (GRCm39) |
frame shift |
probably null |
|
|
R2350:Nfix
|
UTSW |
8 |
85,442,876 (GRCm39) |
frame shift |
probably null |
|
|
R2963:Nfix
|
UTSW |
8 |
85,442,876 (GRCm39) |
frame shift |
probably null |
|
|
R2983:Nfix
|
UTSW |
8 |
85,442,876 (GRCm39) |
frame shift |
probably null |
|
|
R3008:Nfix
|
UTSW |
8 |
85,442,876 (GRCm39) |
frame shift |
probably null |
|
|
R3727:Nfix
|
UTSW |
8 |
85,442,876 (GRCm39) |
frame shift |
probably null |
|
|
R3791:Nfix
|
UTSW |
8 |
85,442,876 (GRCm39) |
frame shift |
probably null |
|
|
R4163:Nfix
|
UTSW |
8 |
85,442,876 (GRCm39) |
frame shift |
probably null |
|
|
R4164:Nfix
|
UTSW |
8 |
85,442,876 (GRCm39) |
frame shift |
probably null |
|
|
R4201:Nfix
|
UTSW |
8 |
85,442,876 (GRCm39) |
frame shift |
probably null |
|
|
R4206:Nfix
|
UTSW |
8 |
85,442,876 (GRCm39) |
frame shift |
probably null |
|
|
R4609:Nfix
|
UTSW |
8 |
85,453,119 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4801:Nfix
|
UTSW |
8 |
85,442,876 (GRCm39) |
frame shift |
probably null |
|
|
R4802:Nfix
|
UTSW |
8 |
85,442,876 (GRCm39) |
frame shift |
probably null |
|
|
R4914:Nfix
|
UTSW |
8 |
85,498,458 (GRCm39) |
missense |
probably benign |
0.00 |
|
R4915:Nfix
|
UTSW |
8 |
85,498,458 (GRCm39) |
missense |
probably benign |
0.00 |
|
R4916:Nfix
|
UTSW |
8 |
85,498,458 (GRCm39) |
missense |
probably benign |
0.00 |
|
R4918:Nfix
|
UTSW |
8 |
85,498,458 (GRCm39) |
missense |
probably benign |
0.00 |
|
R5013:Nfix
|
UTSW |
8 |
85,498,713 (GRCm39) |
missense |
possibly damaging |
0.86 |
|
R5290:Nfix
|
UTSW |
8 |
85,440,406 (GRCm39) |
nonsense |
probably null |
|
|
R6418:Nfix
|
UTSW |
8 |
85,453,778 (GRCm39) |
missense |
probably benign |
0.01 |
|
R6554:Nfix
|
UTSW |
8 |
85,454,279 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
R6786:Nfix
|
UTSW |
8 |
85,454,276 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8853:Nfix
|
UTSW |
8 |
85,454,276 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9014:Nfix
|
UTSW |
8 |
85,448,405 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
T0970:Nfix
|
UTSW |
8 |
85,453,112 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
| Predicted Primers |
PCR Primer
(F):5'- GATCTATGAAGAAGAGGCCATGCCC -3'
(R):5'- TGGAGATGCTCTGCTCCTAGAACTG -3'
Sequencing Primer
(F):5'- ACTATAGGCTTGGTAGCCGTC -3'
(R):5'- GCTCCTAGAACTGGGGTGC -3'
|
| Posted On |
2013-11-07 |
Incidental Mutation