Incidental Mutation 'R8468:Nfxl1'
ID |
656907 |
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 |
067912-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.144)
|
Stock # |
R8468 (G1)
|
Quality Score |
225.009 |
Status
|
Validated
|
Chromosome |
5 |
Chromosomal Location |
72670644-72717027 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
C to T
at 72675548 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Arginine to Lysine
at position 811
(R811K)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000084467
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000087216]
[ENSMUST00000135318]
|
AlphaFold |
E9Q8I7 |
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000087216
AA Change: R811K
PolyPhen 2
Score 0.947 (Sensitivity: 0.79; Specificity: 0.95)
|
SMART Domains |
Protein: ENSMUSP00000084467 Gene: ENSMUSG00000072889 AA Change: R811K
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 |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.8%
- 20x: 99.3%
|
Validation Efficiency |
100% (36/36) |
Allele List at MGI |
|
Other mutations in this stock |
Total: 37 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Adamts1 |
A |
G |
16: 85,592,444 (GRCm39) |
W655R |
possibly damaging |
Het |
Adamts3 |
C |
T |
5: 89,842,627 (GRCm39) |
A748T |
probably benign |
Het |
Ano1 |
A |
C |
7: 144,209,357 (GRCm39) |
F248C |
probably damaging |
Het |
Ap2b1 |
T |
A |
11: 83,241,891 (GRCm39) |
L628Q |
probably damaging |
Het |
BC035947 |
C |
A |
1: 78,474,967 (GRCm39) |
A522S |
probably damaging |
Het |
Bdp1 |
A |
G |
13: 100,197,076 (GRCm39) |
V1103A |
probably benign |
Het |
Cd248 |
T |
A |
19: 5,119,910 (GRCm39) |
I586N |
possibly damaging |
Het |
Dnah9 |
C |
A |
11: 65,722,556 (GRCm39) |
M4428I |
probably benign |
Het |
Epha5 |
T |
C |
5: 84,290,275 (GRCm39) |
|
probably null |
Het |
Fan1 |
T |
A |
7: 64,022,234 (GRCm39) |
N340Y |
probably damaging |
Het |
Fastkd2 |
T |
A |
1: 63,770,923 (GRCm39) |
L93Q |
probably benign |
Het |
Gm6665 |
T |
C |
18: 31,953,453 (GRCm39) |
D5G |
possibly damaging |
Het |
Gphn |
T |
C |
12: 78,273,601 (GRCm39) |
V17A |
probably benign |
Het |
Gpr85 |
A |
T |
6: 13,836,295 (GRCm39) |
L203H |
probably damaging |
Het |
Grk6 |
A |
G |
13: 55,599,198 (GRCm39) |
Y166C |
probably damaging |
Het |
Ints3 |
A |
G |
3: 90,313,560 (GRCm39) |
V356A |
probably damaging |
Het |
Krt33b |
G |
A |
11: 99,920,615 (GRCm39) |
R13C |
probably damaging |
Het |
Lgals3 |
A |
G |
14: 47,619,104 (GRCm39) |
I146V |
possibly damaging |
Het |
Lrp1 |
G |
A |
10: 127,394,519 (GRCm39) |
R2565C |
probably damaging |
Het |
Miip |
G |
T |
4: 147,945,928 (GRCm39) |
D325E |
probably damaging |
Het |
Naaladl1 |
T |
A |
19: 6,158,615 (GRCm39) |
V249E |
probably damaging |
Het |
Or12e10 |
T |
C |
2: 87,641,082 (GRCm39) |
I306T |
possibly damaging |
Het |
Or2ag2b |
A |
G |
7: 106,418,046 (GRCm39) |
Y252C |
possibly damaging |
Het |
Or52e7 |
A |
T |
7: 104,684,953 (GRCm39) |
I183F |
probably damaging |
Het |
Or56a3b |
A |
G |
7: 104,770,685 (GRCm39) |
D7G |
probably benign |
Het |
Or5ak24 |
T |
A |
2: 85,260,522 (GRCm39) |
Y217F |
probably damaging |
Het |
Or6c69c |
C |
T |
10: 129,910,303 (GRCm39) |
T8I |
probably benign |
Het |
Pkd2l2 |
A |
G |
18: 34,560,464 (GRCm39) |
D357G |
possibly damaging |
Het |
Ppp1r36 |
A |
G |
12: 76,482,979 (GRCm39) |
Y189C |
probably damaging |
Het |
Rev3l |
A |
G |
10: 39,703,987 (GRCm39) |
E2011G |
probably damaging |
Het |
Sestd1 |
T |
A |
2: 77,022,090 (GRCm39) |
T534S |
probably benign |
Het |
Sfmbt1 |
G |
A |
14: 30,495,941 (GRCm39) |
A75T |
probably benign |
Het |
Smarcc2 |
G |
A |
10: 128,320,262 (GRCm39) |
R882H |
probably benign |
Het |
Son |
CATGGACTCCCAGATGTTAGCAACTAGCTCTATGGACTCCCAGATGTTAGCAACTAGCTCTATGGACTCCCAGATGTTAGCAACCAGCAGTATGGACTCCCAGATGTTAGCAACCAGCAGTATGGACTCCCAGATGTTAGCAACCAGCTCCATGGACTCCCAGATGTTAGCAAC |
CATGGACTCCCAGATGTTAGCAACTAGCTCTATGGACTCCCAGATGTTAGCAACCAGCAGTATGGACTCCCAGATGTTAGCAACCAGCAGTATGGACTCCCAGATGTTAGCAACCAGCTCCATGGACTCCCAGATGTTAGCAAC |
16: 91,453,579 (GRCm39) |
|
probably benign |
Het |
Speg |
C |
T |
1: 75,407,953 (GRCm39) |
A3216V |
probably damaging |
Het |
Vmn1r12 |
A |
G |
6: 57,136,370 (GRCm39) |
T112A |
probably benign |
Het |
Zfp937 |
T |
G |
2: 150,080,634 (GRCm39) |
D221E |
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 |
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 |
|
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'- AATAGGGTCTTGAGCTTGACTC -3'
(R):5'- TTCAGGATTAGTTGGCACAGTG -3'
Sequencing Primer
(F):5'- GAGCTTGACTCAACAGAAAAGC -3'
(R):5'- GTGTGTTGCATTCTGTAAAAATAACC -3'
|
Posted On |
2021-01-18 |