Incidental Mutation 'IGL01094:Nfxl1'
| ID |
51090 |
| 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 # |
IGL01094
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
5 |
| Chromosomal Location |
72670644-72717027 bp(-) (GRCm39) |
| Type of Mutation |
splice site |
| DNA Base Change (assembly) |
A to G
at 72707771 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 |
noncoding transcript
Transcript: ENSMUST00000134452
|
| 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: ENSMUST00000146761
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000197676
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 27 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adss2 |
A |
T |
1: 177,612,508 (GRCm39) |
H80Q |
probably damaging |
Het |
| Ahi1 |
A |
G |
10: 20,847,959 (GRCm39) |
N456D |
probably damaging |
Het |
| Alpk2 |
T |
G |
18: 65,439,673 (GRCm39) |
E573D |
probably damaging |
Het |
| Axin2 |
G |
A |
11: 108,814,501 (GRCm39) |
V130M |
probably damaging |
Het |
| Cadm4 |
T |
C |
7: 24,202,184 (GRCm39) |
L341P |
possibly damaging |
Het |
| Col20a1 |
G |
A |
2: 180,641,559 (GRCm39) |
C625Y |
probably damaging |
Het |
| Col6a3 |
T |
G |
1: 90,731,655 (GRCm39) |
I1533L |
possibly damaging |
Het |
| Dusp10 |
A |
T |
1: 183,769,697 (GRCm39) |
|
probably null |
Het |
| Dysf |
T |
A |
6: 84,171,368 (GRCm39) |
I1837N |
probably damaging |
Het |
| Fbxw19 |
A |
G |
9: 109,322,614 (GRCm39) |
S119P |
probably benign |
Het |
| Il22ra1 |
C |
A |
4: 135,478,395 (GRCm39) |
P489T |
possibly damaging |
Het |
| Il7r |
A |
T |
15: 9,508,085 (GRCm39) |
N412K |
possibly damaging |
Het |
| Kdr |
A |
T |
5: 76,122,420 (GRCm39) |
Y502N |
probably benign |
Het |
| Med12l |
T |
A |
3: 59,001,076 (GRCm39) |
L713H |
probably damaging |
Het |
| Or4a70 |
A |
G |
2: 89,324,182 (GRCm39) |
V158A |
probably benign |
Het |
| Piezo1 |
T |
A |
8: 123,208,877 (GRCm39) |
E2495D |
probably damaging |
Het |
| Pkhd1l1 |
T |
C |
15: 44,410,325 (GRCm39) |
F2611L |
probably benign |
Het |
| Pld2 |
T |
C |
11: 70,432,132 (GRCm39) |
C84R |
probably damaging |
Het |
| Prss3l |
A |
G |
6: 41,420,357 (GRCm39) |
V123A |
possibly damaging |
Het |
| Scfd2 |
G |
T |
5: 74,691,707 (GRCm39) |
P192T |
possibly damaging |
Het |
| Tm4sf19 |
A |
G |
16: 32,224,772 (GRCm39) |
N40S |
possibly damaging |
Het |
| Tmc2 |
T |
C |
2: 130,102,086 (GRCm39) |
|
probably benign |
Het |
| Tmem217 |
T |
C |
17: 29,745,566 (GRCm39) |
R55G |
probably benign |
Het |
| Unc80 |
A |
G |
1: 66,734,592 (GRCm39) |
D3205G |
possibly damaging |
Het |
| Vps13c |
A |
G |
9: 67,793,566 (GRCm39) |
N440D |
probably damaging |
Het |
| Wdr35 |
T |
C |
12: 9,055,838 (GRCm39) |
|
probably benign |
Het |
| Zfp110 |
T |
A |
7: 12,583,723 (GRCm39) |
H790Q |
probably damaging |
Het |
|
| Other mutations in Nfxl1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
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 |
|
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 |
2013-06-21 |
Incidental Mutation