Incidental Mutation 'R9496:Nfxl1'
ID |
717212 |
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 |
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.144)
|
Stock # |
R9496 (G1)
|
Quality Score |
225.009 |
Status
|
Not validated
|
Chromosome |
5 |
Chromosomal Location |
72670644-72717027 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to T
at 72685502 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Valine to Glutamic Acid
at position 646
(V646E)
|
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: V646E
PolyPhen 2
Score 0.807 (Sensitivity: 0.84; Specificity: 0.93)
|
SMART Domains |
Protein: ENSMUSP00000084467 Gene: ENSMUSG00000072889 AA Change: V646E
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: 99.9%
- 10x: 99.7%
- 20x: 99.1%
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 52 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Atg2a |
A |
T |
19: 6,310,022 (GRCm39) |
Q1735L |
possibly damaging |
Het |
Brpf3 |
A |
G |
17: 29,040,453 (GRCm39) |
D958G |
probably benign |
Het |
Cacna1g |
A |
G |
11: 94,356,711 (GRCm39) |
F142L |
probably benign |
Het |
Calcoco1 |
C |
T |
15: 102,619,876 (GRCm39) |
A303T |
probably benign |
Het |
Chat |
C |
A |
14: 32,148,119 (GRCm39) |
C306F |
probably benign |
Het |
Ciita |
T |
G |
16: 10,298,009 (GRCm39) |
M1R |
probably null |
Het |
Ckap2l |
A |
C |
2: 129,112,595 (GRCm39) |
S638A |
probably benign |
Het |
Coro1c |
C |
T |
5: 113,983,337 (GRCm39) |
G397D |
probably benign |
Het |
Cyb5r2 |
A |
G |
7: 107,353,954 (GRCm39) |
V72A |
probably damaging |
Het |
Cyp2t4 |
G |
A |
7: 26,854,717 (GRCm39) |
V66M |
possibly damaging |
Het |
Dcbld2 |
A |
G |
16: 58,271,164 (GRCm39) |
T314A |
probably benign |
Het |
Dcun1d4 |
T |
G |
5: 73,668,272 (GRCm39) |
H37Q |
probably damaging |
Het |
Dgkd |
T |
A |
1: 87,857,464 (GRCm39) |
S725R |
probably benign |
Het |
Dhx29 |
T |
C |
13: 113,089,460 (GRCm39) |
Y744H |
probably damaging |
Het |
Ect2l |
T |
C |
10: 18,004,885 (GRCm39) |
N916S |
probably damaging |
Het |
Ep400 |
T |
C |
5: 110,855,853 (GRCm39) |
K1287E |
unknown |
Het |
Epo |
C |
T |
5: 137,482,401 (GRCm39) |
V89I |
probably benign |
Het |
Fbxw15 |
A |
T |
9: 109,397,291 (GRCm39) |
I3N |
probably benign |
Het |
Fcgr3 |
A |
C |
1: 170,879,386 (GRCm39) |
Y219D |
possibly damaging |
Het |
Fign |
A |
T |
2: 63,809,253 (GRCm39) |
C672* |
probably null |
Het |
Fsip2 |
A |
T |
2: 82,793,062 (GRCm39) |
R406S |
probably benign |
Het |
Gli2 |
A |
G |
1: 118,764,425 (GRCm39) |
V1242A |
probably benign |
Het |
Gm10577 |
C |
T |
4: 100,877,745 (GRCm39) |
C50Y |
unknown |
Het |
Gm11568 |
GCTGCTGCCAGCCCTGCTGCCAGCCC |
GCTGCTGCCAGCCCTGCTGCCAGCCCTGCTGCCAGCCC |
11: 99,749,044 (GRCm39) |
|
probably benign |
Het |
Grid1 |
T |
C |
14: 35,291,571 (GRCm39) |
L826P |
probably damaging |
Het |
Hmcn1 |
T |
C |
1: 150,579,971 (GRCm39) |
D1922G |
probably benign |
Het |
Itga2b |
C |
T |
11: 102,358,629 (GRCm39) |
C96Y |
probably damaging |
Het |
Itih2 |
A |
T |
2: 10,106,984 (GRCm39) |
I670N |
probably benign |
Het |
Lypla1 |
A |
T |
1: 4,898,813 (GRCm39) |
|
probably benign |
Het |
Mettl16 |
T |
C |
11: 74,707,696 (GRCm39) |
S337P |
possibly damaging |
Het |
Myh11 |
G |
A |
16: 14,048,616 (GRCm39) |
Q564* |
probably null |
Het |
Myrf |
A |
G |
19: 10,193,840 (GRCm39) |
F529L |
probably benign |
Het |
Nell2 |
T |
G |
15: 95,194,097 (GRCm39) |
I539L |
probably benign |
Het |
Nin |
T |
C |
12: 70,102,762 (GRCm39) |
T289A |
|
Het |
Obsl1 |
C |
T |
1: 75,467,484 (GRCm39) |
C1430Y |
probably damaging |
Het |
Otog |
T |
C |
7: 45,890,505 (GRCm39) |
L18P |
unknown |
Het |
Pkd1l1 |
C |
A |
11: 8,783,773 (GRCm39) |
|
probably null |
Het |
Pum1 |
T |
C |
4: 130,446,664 (GRCm39) |
|
probably null |
Het |
Rhbdl1 |
A |
T |
17: 26,055,371 (GRCm39) |
|
probably null |
Het |
Rmdn2 |
T |
A |
17: 79,975,425 (GRCm39) |
L305I |
possibly damaging |
Het |
Scn3a |
A |
G |
2: 65,312,493 (GRCm39) |
|
probably null |
Het |
Shtn1 |
G |
T |
19: 58,963,457 (GRCm39) |
S619R |
probably damaging |
Het |
Smpd1 |
G |
A |
7: 105,205,202 (GRCm39) |
|
probably null |
Het |
Tepsin |
A |
G |
11: 119,982,357 (GRCm39) |
L571S |
probably damaging |
Het |
Tm7sf3 |
C |
T |
6: 146,525,179 (GRCm39) |
D89N |
possibly damaging |
Het |
Tssk5 |
T |
C |
15: 76,258,856 (GRCm39) |
D10G |
probably benign |
Het |
Usp39 |
A |
G |
6: 72,302,759 (GRCm39) |
Y432H |
probably benign |
Het |
Vmn2r97 |
T |
A |
17: 19,149,227 (GRCm39) |
V205D |
probably damaging |
Het |
Vwa8 |
T |
C |
14: 79,258,122 (GRCm39) |
V757A |
probably benign |
Het |
Zc2hc1b |
A |
T |
10: 13,044,540 (GRCm39) |
F41Y |
probably damaging |
Het |
Zfp1007 |
A |
G |
5: 109,823,924 (GRCm39) |
S509P |
probably damaging |
Het |
Zfp114 |
A |
T |
7: 23,880,463 (GRCm39) |
S271C |
possibly 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 |
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 |
|
Z1176:Nfxl1
|
UTSW |
5 |
72,695,493 (GRCm39) |
missense |
probably null |
0.89 |
|
Predicted Primers |
PCR Primer
(F):5'- TCTGGAGAGCTAAGGACAGTAC -3'
(R):5'- TTCAGCCTGTGTGAGCAAGAG -3'
Sequencing Primer
(F):5'- GAGCTAAGGACAGTACACTCTAGC -3'
(R):5'- AGCAAGAGGTCTGTTTCCCTAGATTC -3'
|
Posted On |
2022-07-18 |