Incidental Mutation 'R1374:Nfxl1'
| ID |
157435 |
| 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 |
039438-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.144)
|
| Stock # |
R1374 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
5 |
| Chromosomal Location |
72670644-72717027 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to A
at 72681488 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Isoleucine
at position 681
(T681I)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000084467
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000087216]
[ENSMUST00000135318]
|
| AlphaFold |
E9Q8I7 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000087216
AA Change: T681I
PolyPhen 2
Score 0.041 (Sensitivity: 0.94; Specificity: 0.83)
|
| SMART Domains |
Protein: ENSMUSP00000084467
Gene: ENSMUSG00000072889
AA Change: T681I
| 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: ENSMUST00000153882
|
| Meta Mutation Damage Score |
0.1206 |
| Coding Region Coverage |
- 1x: 98.9%
- 3x: 98.0%
- 10x: 95.4%
- 20x: 90.1%
|
| Validation Efficiency |
100% (38/38) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 37 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Ap5z1 |
G |
A |
5: 142,456,213 (GRCm39) |
R344H |
probably damaging |
Het |
| Ccdc38 |
C |
T |
10: 93,418,296 (GRCm39) |
|
probably benign |
Het |
| Cd47 |
T |
C |
16: 49,714,543 (GRCm39) |
L184P |
probably damaging |
Het |
| Cps1 |
T |
C |
1: 67,269,440 (GRCm39) |
S1480P |
probably damaging |
Het |
| Cyp2a4 |
A |
G |
7: 26,012,348 (GRCm39) |
D377G |
probably damaging |
Het |
| Ddb1 |
G |
A |
19: 10,585,682 (GRCm39) |
G132D |
probably damaging |
Het |
| Dlgap2 |
T |
C |
8: 14,881,228 (GRCm39) |
|
probably benign |
Het |
| Epg5 |
A |
G |
18: 78,024,541 (GRCm39) |
D1132G |
probably benign |
Het |
| Fam184b |
T |
C |
5: 45,712,485 (GRCm39) |
E511G |
probably benign |
Het |
| Fbn1 |
T |
A |
2: 125,188,354 (GRCm39) |
D1495V |
probably damaging |
Het |
| Gpatch1 |
A |
T |
7: 34,991,187 (GRCm39) |
L619Q |
probably damaging |
Het |
| Inpp4b |
T |
G |
8: 82,470,445 (GRCm39) |
|
probably null |
Het |
| Kifc1 |
T |
C |
17: 34,102,849 (GRCm39) |
R192G |
probably benign |
Het |
| Klhl30 |
C |
T |
1: 91,288,798 (GRCm39) |
T519M |
probably damaging |
Het |
| Klhl8 |
A |
C |
5: 104,011,049 (GRCm39) |
L516R |
probably damaging |
Het |
| Meikin |
T |
A |
11: 54,289,270 (GRCm39) |
|
probably benign |
Het |
| Mlph |
T |
A |
1: 90,869,425 (GRCm39) |
S476T |
probably damaging |
Het |
| Neb |
T |
C |
2: 52,133,401 (GRCm39) |
Y3379C |
probably damaging |
Het |
| Nhsl3 |
A |
G |
4: 129,116,082 (GRCm39) |
S849P |
possibly damaging |
Het |
| Obox1 |
A |
T |
7: 15,289,426 (GRCm39) |
|
probably benign |
Het |
| Oplah |
G |
A |
15: 76,190,755 (GRCm39) |
R31C |
probably damaging |
Het |
| Polb |
T |
C |
8: 23,143,073 (GRCm39) |
|
probably benign |
Het |
| Ppfibp2 |
A |
G |
7: 107,285,195 (GRCm39) |
|
probably benign |
Het |
| Prr12 |
A |
G |
7: 44,695,642 (GRCm39) |
S1275P |
unknown |
Het |
| Ptcd3 |
C |
A |
6: 71,885,637 (GRCm39) |
E30* |
probably null |
Het |
| Ranbp2 |
T |
C |
10: 58,321,715 (GRCm39) |
|
probably benign |
Het |
| Rapgef2 |
A |
G |
3: 78,995,275 (GRCm39) |
V791A |
probably benign |
Het |
| Rbpms2 |
ACTGCTGCTGCTGCTGC |
ACTGCTGCTGCTGCTGCTGC |
9: 65,558,948 (GRCm39) |
|
probably benign |
Het |
| Rims1 |
G |
A |
1: 22,367,172 (GRCm39) |
T1176M |
probably damaging |
Het |
| Ripor2 |
T |
C |
13: 24,857,095 (GRCm39) |
|
probably null |
Het |
| Sae1 |
A |
G |
7: 16,112,333 (GRCm39) |
I60T |
probably damaging |
Het |
| Tenm2 |
T |
C |
11: 35,899,281 (GRCm39) |
T2626A |
probably benign |
Het |
| Trrap |
A |
G |
5: 144,783,428 (GRCm39) |
Q3419R |
probably damaging |
Het |
| Vill |
C |
A |
9: 118,890,562 (GRCm39) |
N158K |
probably benign |
Het |
| Zbtb14 |
A |
G |
17: 69,694,575 (GRCm39) |
N91S |
probably damaging |
Het |
| Zfp248 |
A |
G |
6: 118,410,334 (GRCm39) |
L25P |
probably damaging |
Het |
| Zmym1 |
T |
A |
4: 126,943,404 (GRCm39) |
K230I |
probably 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 |
|
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- CACTTCTGTAAGCCCCACAAGTACAATT -3'
(R):5'- CTGCGTTGCTTCCATGTGAAAATGA -3'
Sequencing Primer
(F):5'- ttcaatccccagcacagac -3'
(R):5'- GCTCACTATAGAATCGTGTCAGG -3'
|
| Posted On |
2014-02-18 |
Incidental Mutation