Incidental Mutation 'R5406:Nfxl1'
ID |
426272 |
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 |
042976-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.144)
|
Stock # |
R5406 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
5 |
Chromosomal Location |
72670644-72717027 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
G to A
at 72713541 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Threonine to Isoleucine
at position 134
(T134I)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000074481
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000074948]
[ENSMUST00000087216]
[ENSMUST00000135318]
|
AlphaFold |
E9Q8I7 |
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000074948
AA Change: T134I
PolyPhen 2
Score 0.922 (Sensitivity: 0.81; Specificity: 0.94)
|
SMART Domains |
Protein: ENSMUSP00000074481 Gene: ENSMUSG00000072889 AA Change: T134I
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 |
possibly damaging
Transcript: ENSMUST00000087216
AA Change: T134I
PolyPhen 2
Score 0.514 (Sensitivity: 0.88; Specificity: 0.90)
|
SMART Domains |
Protein: ENSMUSP00000084467 Gene: ENSMUSG00000072889 AA Change: T134I
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
AA Change: T134I
PolyPhen 2
Score 0.320 (Sensitivity: 0.90; Specificity: 0.89)
|
SMART Domains |
Protein: ENSMUSP00000114355 Gene: ENSMUSG00000072889 AA Change: T134I
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
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000198977
|
Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.5%
- 10x: 97.0%
- 20x: 94.5%
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 44 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Aasdhppt |
A |
T |
9: 4,309,387 (GRCm39) |
V17D |
probably damaging |
Het |
Abcb1a |
C |
A |
5: 8,752,946 (GRCm39) |
Q566K |
probably damaging |
Het |
Adam26a |
A |
T |
8: 44,022,141 (GRCm39) |
C450S |
probably damaging |
Het |
Adar |
C |
T |
3: 89,643,418 (GRCm39) |
P433L |
probably damaging |
Het |
Aldh1a2 |
G |
T |
9: 71,162,403 (GRCm39) |
A151S |
possibly damaging |
Het |
Arsk |
T |
A |
13: 76,242,066 (GRCm39) |
H69L |
probably benign |
Het |
Atf6b |
T |
A |
17: 34,872,771 (GRCm39) |
Y600* |
probably null |
Het |
Blk |
C |
A |
14: 63,618,180 (GRCm39) |
G242V |
probably damaging |
Het |
Bmt2 |
A |
T |
6: 13,677,831 (GRCm39) |
M1K |
probably null |
Het |
Catsperg1 |
G |
A |
7: 28,884,948 (GRCm39) |
T891M |
probably damaging |
Het |
Ccdc32 |
A |
C |
2: 118,852,560 (GRCm39) |
S131A |
possibly damaging |
Het |
Cdh8 |
A |
G |
8: 99,923,002 (GRCm39) |
V298A |
probably damaging |
Het |
Cfap54 |
T |
A |
10: 92,837,720 (GRCm39) |
Q1060L |
probably benign |
Het |
Cfap58 |
G |
A |
19: 48,017,541 (GRCm39) |
M800I |
possibly damaging |
Het |
Cntn5 |
A |
T |
9: 9,833,465 (GRCm39) |
V362D |
probably damaging |
Het |
Fkbpl |
G |
A |
17: 34,864,303 (GRCm39) |
A24T |
probably benign |
Het |
G2e3 |
T |
C |
12: 51,419,449 (GRCm39) |
S699P |
probably damaging |
Het |
Gbp4 |
G |
T |
5: 105,267,387 (GRCm39) |
Q511K |
possibly damaging |
Het |
Gdap2 |
T |
A |
3: 100,098,991 (GRCm39) |
I361N |
probably damaging |
Het |
Ino80c |
T |
A |
18: 24,245,819 (GRCm39) |
H92L |
probably benign |
Het |
Lipo4 |
A |
G |
19: 33,480,618 (GRCm39) |
V250A |
probably benign |
Het |
Llgl1 |
C |
T |
11: 60,604,010 (GRCm39) |
R1055W |
probably damaging |
Het |
Lrriq3 |
T |
C |
3: 154,835,138 (GRCm39) |
|
probably null |
Het |
Mmp1a |
A |
G |
9: 7,467,294 (GRCm39) |
E290G |
probably damaging |
Het |
Ncstn |
A |
G |
1: 171,899,731 (GRCm39) |
V317A |
probably benign |
Het |
Nup155 |
A |
T |
15: 8,183,122 (GRCm39) |
|
probably null |
Het |
Nup214 |
C |
A |
2: 31,892,619 (GRCm39) |
P680T |
probably damaging |
Het |
Or6c212 |
G |
A |
10: 129,558,799 (GRCm39) |
L205F |
probably damaging |
Het |
Or7h8 |
A |
G |
9: 20,124,454 (GRCm39) |
K270E |
probably benign |
Het |
Or8b12 |
A |
G |
9: 37,657,943 (GRCm39) |
N171S |
probably benign |
Het |
Or8b9 |
G |
A |
9: 37,766,515 (GRCm39) |
V134I |
probably benign |
Het |
Pkd2 |
T |
C |
5: 104,628,198 (GRCm39) |
F424S |
probably damaging |
Het |
Plb1 |
A |
G |
5: 32,499,259 (GRCm39) |
D1074G |
probably damaging |
Het |
Ppm1l |
T |
C |
3: 69,224,927 (GRCm39) |
S10P |
possibly damaging |
Het |
Rnf213 |
A |
G |
11: 119,331,634 (GRCm39) |
H2281R |
probably damaging |
Het |
Rpa2 |
G |
T |
4: 132,503,559 (GRCm39) |
A3S |
probably benign |
Het |
Sardh |
A |
G |
2: 27,101,096 (GRCm39) |
V698A |
possibly damaging |
Het |
Saxo2 |
A |
T |
7: 82,284,586 (GRCm39) |
C91S |
probably benign |
Het |
Slc3a2 |
T |
C |
19: 8,685,406 (GRCm39) |
D198G |
probably damaging |
Het |
Spata31d1d |
T |
A |
13: 59,876,592 (GRCm39) |
E314D |
probably benign |
Het |
Sptlc3 |
T |
C |
2: 139,388,398 (GRCm39) |
V130A |
probably benign |
Het |
Stpg3 |
C |
A |
2: 25,103,580 (GRCm39) |
E115* |
probably null |
Het |
Tbcd |
T |
A |
11: 121,342,927 (GRCm39) |
D19E |
probably benign |
Het |
Xrcc3 |
T |
C |
12: 111,778,545 (GRCm39) |
D2G |
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 |
|
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 |
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'- GGGTTGTAAAAGACACTTGCC -3'
(R):5'- TTGCGAGGACACGGATTTGC -3'
Sequencing Primer
(F):5'- CAGCTTTACAAGATGACCAC -3'
(R):5'- CACGGATTTGCAGAAATGAAACTC -3'
|
Posted On |
2016-09-01 |