Incidental Mutation 'R6212:Nfxl1'
ID |
503493 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Nfxl1
|
Ensembl Gene |
ENSMUSG00000072889 |
Gene Name |
nuclear transcription factor, X-box binding-like 1 |
Synonyms |
D430033A06Rik, LOC381696, 1700012H24Rik, TCF9 |
MMRRC Submission |
044345-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.144)
|
Stock # |
R6212 (G1)
|
Quality Score |
219.009 |
Status
|
Validated
|
Chromosome |
5 |
Chromosomal Location |
72670644-72717027 bp(-) (GRCm39) |
Type of Mutation |
critical splice donor site (2 bp from exon) |
DNA Base Change (assembly) |
A to G
at 72673553 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
|
Ref Sequence |
ENSEMBL: ENSMUSP00000084467
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000087216]
[ENSMUST00000135318]
|
AlphaFold |
E9Q8I7 |
Predicted Effect |
probably null
Transcript: ENSMUST00000087216
|
SMART Domains |
Protein: ENSMUSP00000084467 Gene: ENSMUSG00000072889
Domain | Start | End | E-Value | Type |
low complexity region
|
9 |
19 |
N/A |
INTRINSIC |
low complexity region
|
25 |
64 |
N/A |
INTRINSIC |
low complexity region
|
106 |
125 |
N/A |
INTRINSIC |
low complexity region
|
134 |
142 |
N/A |
INTRINSIC |
RING
|
167 |
226 |
4.99e-1 |
SMART |
ZnF_NFX
|
272 |
290 |
2.83e-3 |
SMART |
ZnF_NFX
|
325 |
344 |
1.42e-3 |
SMART |
ZnF_NFX
|
378 |
397 |
2.88e-4 |
SMART |
ZnF_NFX
|
431 |
450 |
5.01e-4 |
SMART |
ZnF_NFX
|
458 |
479 |
1.67e2 |
SMART |
ZnF_NFX
|
483 |
502 |
9.71e-2 |
SMART |
ZnF_NFX
|
510 |
529 |
3.49e-3 |
SMART |
ZnF_NFX
|
567 |
587 |
4.56e1 |
SMART |
Pfam:zf-NF-X1
|
596 |
608 |
6.8e-3 |
PFAM |
ZnF_NFX
|
677 |
710 |
4.23e1 |
SMART |
ZnF_NFX
|
720 |
738 |
5.49e-1 |
SMART |
ZnF_NFX
|
782 |
801 |
1.63e-3 |
SMART |
coiled coil region
|
829 |
880 |
N/A |
INTRINSIC |
transmembrane domain
|
897 |
914 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000135318
|
SMART Domains |
Protein: ENSMUSP00000114355 Gene: ENSMUSG00000072889
Domain | Start | End | E-Value | Type |
low complexity region
|
9 |
19 |
N/A |
INTRINSIC |
low complexity region
|
25 |
64 |
N/A |
INTRINSIC |
low complexity region
|
106 |
125 |
N/A |
INTRINSIC |
low complexity region
|
134 |
142 |
N/A |
INTRINSIC |
RING
|
167 |
226 |
4.99e-1 |
SMART |
ZnF_NFX
|
272 |
290 |
2.83e-3 |
SMART |
ZnF_NFX
|
325 |
344 |
1.42e-3 |
SMART |
ZnF_NFX
|
378 |
397 |
2.88e-4 |
SMART |
ZnF_NFX
|
431 |
450 |
5.01e-4 |
SMART |
ZnF_NFX
|
458 |
479 |
1.67e2 |
SMART |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000149340
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000149393
|
Meta Mutation Damage Score |
0.9588 |
Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.1%
- 20x: 97.2%
|
Validation Efficiency |
96% (52/54) |
Allele List at MGI |
|
Other mutations in this stock |
Total: 52 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Acsm2 |
T |
A |
7: 119,172,505 (GRCm39) |
I116N |
probably damaging |
Het |
Ap3b1 |
T |
C |
13: 94,587,581 (GRCm39) |
S452P |
probably damaging |
Het |
Ap3b1 |
C |
A |
13: 94,630,207 (GRCm39) |
H821N |
unknown |
Het |
Apex1 |
C |
T |
14: 51,164,350 (GRCm39) |
P264S |
probably benign |
Het |
Arhgap27 |
T |
C |
11: 103,251,698 (GRCm39) |
Y10C |
probably damaging |
Het |
Bag6 |
A |
G |
17: 35,359,278 (GRCm39) |
T208A |
probably benign |
Het |
Brd4 |
G |
T |
17: 32,421,423 (GRCm39) |
P771Q |
probably damaging |
Het |
Capn3 |
A |
G |
2: 120,307,667 (GRCm39) |
S69G |
probably benign |
Het |
Ccdc13 |
A |
G |
9: 121,627,975 (GRCm39) |
|
probably benign |
Het |
Celsr1 |
T |
C |
15: 85,800,888 (GRCm39) |
H2519R |
probably benign |
Het |
Chd8 |
T |
A |
14: 52,439,155 (GRCm39) |
N48I |
probably damaging |
Het |
Cmip |
T |
C |
8: 118,103,895 (GRCm39) |
Y128H |
probably damaging |
Het |
Dnhd1 |
C |
T |
7: 105,353,255 (GRCm39) |
P2803S |
probably damaging |
Het |
Dusp26 |
G |
A |
8: 31,584,252 (GRCm39) |
D120N |
probably damaging |
Het |
Epha6 |
T |
C |
16: 60,245,719 (GRCm39) |
H160R |
possibly damaging |
Het |
Erg |
C |
T |
16: 95,180,022 (GRCm39) |
V215I |
probably damaging |
Het |
Fbxo6 |
A |
T |
4: 148,233,979 (GRCm39) |
I39N |
probably damaging |
Het |
Gabbr2 |
T |
C |
4: 46,681,189 (GRCm39) |
D124G |
probably damaging |
Het |
Gapdh |
T |
C |
6: 125,139,661 (GRCm39) |
H203R |
probably damaging |
Het |
Garin1b |
T |
C |
6: 29,319,373 (GRCm39) |
L59P |
probably damaging |
Het |
Ggnbp2 |
T |
C |
11: 84,727,503 (GRCm39) |
M42V |
possibly damaging |
Het |
Hk2 |
C |
A |
6: 82,705,823 (GRCm39) |
A827S |
probably benign |
Het |
Hoxa5 |
T |
C |
6: 52,179,694 (GRCm39) |
E227G |
probably damaging |
Het |
Itgax |
C |
A |
7: 127,729,504 (GRCm39) |
H31N |
possibly damaging |
Het |
Itgax |
A |
G |
7: 127,747,025 (GRCm39) |
D942G |
probably benign |
Het |
Kars1 |
A |
T |
8: 112,726,829 (GRCm39) |
|
probably null |
Het |
Lama3 |
T |
C |
18: 12,646,702 (GRCm39) |
F1739L |
probably damaging |
Het |
Map2k1 |
A |
T |
9: 64,112,445 (GRCm39) |
L155Q |
probably damaging |
Het |
Mcf2l |
A |
T |
8: 13,067,431 (GRCm39) |
D1013V |
probably damaging |
Het |
Mocs1 |
G |
A |
17: 49,742,224 (GRCm39) |
G118S |
probably damaging |
Het |
Ncam2 |
T |
C |
16: 81,229,650 (GRCm39) |
S37P |
probably damaging |
Het |
Nodal |
C |
T |
10: 61,259,300 (GRCm39) |
H246Y |
possibly damaging |
Het |
Nwd1 |
G |
A |
8: 73,421,950 (GRCm39) |
V999M |
possibly damaging |
Het |
Oaz3 |
T |
A |
3: 94,342,375 (GRCm39) |
T139S |
probably benign |
Het |
Or6z6 |
T |
C |
7: 6,491,367 (GRCm39) |
|
probably null |
Het |
Or7e165 |
A |
G |
9: 19,694,585 (GRCm39) |
D52G |
probably damaging |
Het |
P3h3 |
T |
A |
6: 124,822,606 (GRCm39) |
T522S |
probably benign |
Het |
Pgap1 |
A |
G |
1: 54,554,052 (GRCm39) |
F457S |
probably damaging |
Het |
Prkce |
T |
C |
17: 86,866,729 (GRCm39) |
Y530H |
probably damaging |
Het |
Ptpn3 |
A |
T |
4: 57,270,070 (GRCm39) |
C31S |
probably damaging |
Het |
Rsf1 |
G |
GACGGCGGCA |
7: 97,229,116 (GRCm39) |
|
probably benign |
Het |
Serpinb6e |
T |
A |
13: 34,025,220 (GRCm39) |
N24Y |
probably damaging |
Het |
Slc4a8 |
T |
C |
15: 100,709,452 (GRCm39) |
V937A |
possibly damaging |
Het |
Smgc |
T |
A |
15: 91,734,830 (GRCm39) |
|
probably benign |
Het |
Srcap |
T |
A |
7: 127,148,861 (GRCm39) |
N2027K |
probably damaging |
Het |
Stra6l |
T |
C |
4: 45,884,664 (GRCm39) |
Y565H |
probably benign |
Het |
Tmem262 |
A |
G |
19: 6,130,668 (GRCm39) |
E62G |
possibly damaging |
Het |
Tnrc6a |
T |
A |
7: 122,742,965 (GRCm39) |
|
probably null |
Het |
Txlnb |
T |
C |
10: 17,675,057 (GRCm39) |
I70T |
probably damaging |
Het |
Whrn |
A |
T |
4: 63,412,923 (GRCm39) |
L25* |
probably null |
Het |
Zfp326 |
T |
A |
5: 106,058,097 (GRCm39) |
V412E |
probably damaging |
Het |
Zfp831 |
A |
G |
2: 174,487,661 (GRCm39) |
R779G |
possibly damaging |
Het |
|
Other mutations in Nfxl1 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL01094:Nfxl1
|
APN |
5 |
72,707,771 (GRCm39) |
splice site |
probably benign |
|
IGL01716:Nfxl1
|
APN |
5 |
72,698,277 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02592:Nfxl1
|
APN |
5 |
72,671,572 (GRCm39) |
missense |
probably benign |
0.25 |
IGL03083:Nfxl1
|
APN |
5 |
72,698,005 (GRCm39) |
splice site |
probably benign |
|
FR4548:Nfxl1
|
UTSW |
5 |
72,716,458 (GRCm39) |
small insertion |
probably benign |
|
FR4737:Nfxl1
|
UTSW |
5 |
72,716,464 (GRCm39) |
small insertion |
probably benign |
|
R0478:Nfxl1
|
UTSW |
5 |
72,681,988 (GRCm39) |
critical splice donor site |
probably null |
|
R0725:Nfxl1
|
UTSW |
5 |
72,716,473 (GRCm39) |
missense |
probably benign |
|
R1374:Nfxl1
|
UTSW |
5 |
72,681,488 (GRCm39) |
missense |
probably benign |
0.04 |
R1616:Nfxl1
|
UTSW |
5 |
72,686,380 (GRCm39) |
missense |
probably benign |
0.01 |
R1752:Nfxl1
|
UTSW |
5 |
72,698,218 (GRCm39) |
missense |
probably damaging |
1.00 |
R2108:Nfxl1
|
UTSW |
5 |
72,671,675 (GRCm39) |
critical splice acceptor site |
probably null |
|
R3081:Nfxl1
|
UTSW |
5 |
72,686,378 (GRCm39) |
missense |
possibly damaging |
0.92 |
R3693:Nfxl1
|
UTSW |
5 |
72,697,954 (GRCm39) |
missense |
probably damaging |
0.99 |
R3725:Nfxl1
|
UTSW |
5 |
72,674,405 (GRCm39) |
missense |
probably damaging |
1.00 |
R4660:Nfxl1
|
UTSW |
5 |
72,710,011 (GRCm39) |
missense |
probably damaging |
1.00 |
R5058:Nfxl1
|
UTSW |
5 |
72,713,582 (GRCm39) |
missense |
probably benign |
0.03 |
R5406:Nfxl1
|
UTSW |
5 |
72,713,541 (GRCm39) |
missense |
possibly damaging |
0.92 |
R5447:Nfxl1
|
UTSW |
5 |
72,686,512 (GRCm39) |
missense |
probably benign |
0.01 |
R5634:Nfxl1
|
UTSW |
5 |
72,686,833 (GRCm39) |
missense |
probably damaging |
1.00 |
R5831:Nfxl1
|
UTSW |
5 |
72,679,540 (GRCm39) |
missense |
probably benign |
|
R5910:Nfxl1
|
UTSW |
5 |
72,697,708 (GRCm39) |
missense |
probably benign |
0.05 |
R6086:Nfxl1
|
UTSW |
5 |
72,698,362 (GRCm39) |
missense |
probably benign |
0.39 |
R6091:Nfxl1
|
UTSW |
5 |
72,671,533 (GRCm39) |
missense |
probably benign |
0.00 |
R6501:Nfxl1
|
UTSW |
5 |
72,685,852 (GRCm39) |
splice site |
probably null |
|
R6521:Nfxl1
|
UTSW |
5 |
72,697,651 (GRCm39) |
splice site |
probably null |
|
R7283:Nfxl1
|
UTSW |
5 |
72,686,393 (GRCm39) |
missense |
probably benign |
|
R7426:Nfxl1
|
UTSW |
5 |
72,681,517 (GRCm39) |
nonsense |
probably null |
|
R7480:Nfxl1
|
UTSW |
5 |
72,716,595 (GRCm39) |
nonsense |
probably null |
|
R7648:Nfxl1
|
UTSW |
5 |
72,680,879 (GRCm39) |
missense |
probably benign |
0.12 |
R7817:Nfxl1
|
UTSW |
5 |
72,671,632 (GRCm39) |
missense |
possibly damaging |
0.89 |
R7899:Nfxl1
|
UTSW |
5 |
72,681,558 (GRCm39) |
missense |
probably damaging |
1.00 |
R8186:Nfxl1
|
UTSW |
5 |
72,716,355 (GRCm39) |
critical splice donor site |
probably null |
|
R8468:Nfxl1
|
UTSW |
5 |
72,675,548 (GRCm39) |
missense |
possibly damaging |
0.95 |
R8765:Nfxl1
|
UTSW |
5 |
72,686,443 (GRCm39) |
missense |
probably benign |
|
R8969:Nfxl1
|
UTSW |
5 |
72,716,473 (GRCm39) |
missense |
unknown |
|
R9330:Nfxl1
|
UTSW |
5 |
72,681,451 (GRCm39) |
missense |
probably benign |
0.00 |
R9385:Nfxl1
|
UTSW |
5 |
72,694,750 (GRCm39) |
missense |
probably benign |
0.13 |
R9419:Nfxl1
|
UTSW |
5 |
72,716,641 (GRCm39) |
intron |
probably benign |
|
R9496:Nfxl1
|
UTSW |
5 |
72,685,502 (GRCm39) |
missense |
possibly damaging |
0.81 |
Z1176:Nfxl1
|
UTSW |
5 |
72,695,493 (GRCm39) |
missense |
probably null |
0.89 |
|
Predicted Primers |
PCR Primer
(F):5'- AGAAGACCAGTCTGCCCATC -3'
(R):5'- TCTCCAATGTGAGATTGCCAGAAG -3'
Sequencing Primer
(F):5'- TATGGAGAAGTCTGCCCATCC -3'
(R):5'- AGATTGCCAGAAGTTGCTATGG -3'
|
Posted On |
2018-02-27 |