Incidental Mutation 'IGL03083:Nfxl1'
ID |
417972 |
Institutional Source |
Australian Phenomics Network
(link to record)
|
Gene Symbol |
Nfxl1
|
Ensembl Gene |
ENSMUSG00000072889 |
Gene Name |
nuclear transcription factor, X-box binding-like 1 |
Synonyms |
D430033A06Rik, LOC381696, 1700012H24Rik, TCF9 |
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.144)
|
Stock # |
IGL03083
|
Quality Score |
|
Status
|
|
Chromosome |
5 |
Chromosomal Location |
72670644-72717027 bp(-) (GRCm39) |
Type of Mutation |
splice site |
DNA Base Change (assembly) |
C to T
at 72698005 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
|
Ref Sequence |
ENSEMBL: ENSMUSP00000114355
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000074948]
[ENSMUST00000087216]
[ENSMUST00000135318]
|
AlphaFold |
E9Q8I7 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000074948
|
SMART Domains |
Protein: ENSMUSP00000074481 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 |
|
Predicted Effect |
probably benign
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 |
|
Coding Region Coverage |
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 49 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abca4 |
T |
A |
3: 121,932,261 (GRCm39) |
|
probably null |
Het |
Acadsb |
A |
C |
7: 131,042,922 (GRCm39) |
|
probably benign |
Het |
Ankk1 |
A |
G |
9: 49,333,166 (GRCm39) |
L106P |
probably benign |
Het |
Ankrd24 |
G |
A |
10: 81,474,483 (GRCm39) |
A72T |
probably benign |
Het |
Ankrd35 |
A |
T |
3: 96,592,117 (GRCm39) |
Q801L |
probably damaging |
Het |
Avil |
A |
G |
10: 126,852,193 (GRCm39) |
I659M |
probably benign |
Het |
Ccnc |
A |
G |
4: 21,742,683 (GRCm39) |
D170G |
possibly damaging |
Het |
Cfap57 |
T |
C |
4: 118,441,936 (GRCm39) |
K711E |
probably damaging |
Het |
Dctn1 |
T |
C |
6: 83,174,466 (GRCm39) |
|
probably benign |
Het |
Dpp6 |
T |
C |
5: 27,914,548 (GRCm39) |
|
probably null |
Het |
Efhb |
A |
T |
17: 53,706,087 (GRCm39) |
W817R |
probably damaging |
Het |
Emilin3 |
G |
A |
2: 160,750,649 (GRCm39) |
Q320* |
probably null |
Het |
Fer1l4 |
A |
G |
2: 155,881,286 (GRCm39) |
|
probably benign |
Het |
Fgf8 |
T |
C |
19: 45,725,667 (GRCm39) |
N137S |
probably damaging |
Het |
Fndc3b |
T |
C |
3: 27,521,576 (GRCm39) |
D533G |
probably benign |
Het |
Fshb |
A |
G |
2: 106,887,812 (GRCm39) |
V69A |
probably benign |
Het |
Galnt7 |
A |
T |
8: 57,979,223 (GRCm39) |
H633Q |
probably damaging |
Het |
Gm5458 |
A |
G |
14: 19,652,451 (GRCm39) |
|
probably null |
Het |
Hjv |
T |
A |
3: 96,435,922 (GRCm39) |
D393E |
probably benign |
Het |
Hpca |
A |
C |
4: 129,012,319 (GRCm39) |
F72L |
probably damaging |
Het |
Inpp5d |
A |
T |
1: 87,638,863 (GRCm39) |
D552V |
probably damaging |
Het |
Lepr |
C |
T |
4: 101,671,876 (GRCm39) |
Q967* |
probably null |
Het |
Lgr5 |
A |
G |
10: 115,288,937 (GRCm39) |
V497A |
probably benign |
Het |
Matr3 |
A |
G |
18: 35,705,471 (GRCm39) |
K132R |
probably damaging |
Het |
Mib1 |
T |
G |
18: 10,752,029 (GRCm39) |
|
probably null |
Het |
Mios |
T |
A |
6: 8,215,156 (GRCm39) |
N117K |
probably damaging |
Het |
Nab1 |
T |
C |
1: 52,529,429 (GRCm39) |
D156G |
probably benign |
Het |
Nutm2 |
G |
A |
13: 50,621,480 (GRCm39) |
G15E |
probably damaging |
Het |
Oca2 |
A |
G |
7: 55,945,232 (GRCm39) |
H280R |
probably benign |
Het |
Or10al2 |
C |
A |
17: 37,983,551 (GRCm39) |
C212* |
probably null |
Het |
Or4d1 |
T |
C |
11: 87,804,914 (GRCm39) |
I273V |
probably benign |
Het |
P2ry1 |
A |
G |
3: 60,911,736 (GRCm39) |
T292A |
probably benign |
Het |
Pcna |
C |
T |
2: 132,093,673 (GRCm39) |
E109K |
probably benign |
Het |
Pidd1 |
A |
G |
7: 141,020,369 (GRCm39) |
|
probably null |
Het |
Pitpnm2 |
T |
C |
5: 124,271,445 (GRCm39) |
E376G |
possibly damaging |
Het |
Pkd1l2 |
G |
A |
8: 117,792,484 (GRCm39) |
T436I |
probably benign |
Het |
Polr2a |
T |
C |
11: 69,635,872 (GRCm39) |
|
probably null |
Het |
Sbno2 |
A |
T |
10: 79,893,368 (GRCm39) |
M1311K |
probably damaging |
Het |
Senp7 |
A |
G |
16: 55,992,228 (GRCm39) |
N701S |
probably benign |
Het |
Sirpa |
T |
A |
2: 129,471,848 (GRCm39) |
I211N |
probably damaging |
Het |
Slc9a4 |
A |
G |
1: 40,668,562 (GRCm39) |
E735G |
probably benign |
Het |
Sorbs1 |
C |
T |
19: 40,302,820 (GRCm39) |
M790I |
probably damaging |
Het |
Sult1e1 |
T |
A |
5: 87,737,983 (GRCm39) |
M33L |
probably benign |
Het |
Tapbpl |
G |
A |
6: 125,205,191 (GRCm39) |
|
probably null |
Het |
Top1 |
A |
G |
2: 160,545,498 (GRCm39) |
T289A |
probably damaging |
Het |
Trim58 |
T |
A |
11: 58,542,216 (GRCm39) |
M392K |
probably benign |
Het |
Uaca |
A |
G |
9: 60,770,945 (GRCm39) |
I371V |
probably benign |
Het |
Vmn1r54 |
T |
C |
6: 90,246,854 (GRCm39) |
I256T |
possibly damaging |
Het |
Wdr19 |
T |
C |
5: 65,388,319 (GRCm39) |
I668T |
probably benign |
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 |
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 |
R6212:Nfxl1
|
UTSW |
5 |
72,673,553 (GRCm39) |
critical splice donor site |
probably null |
|
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 |
|
Posted On |
2016-08-02 |