Incidental Mutation 'R7648:Nfxl1'
ID |
590631 |
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 |
045726-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.144)
|
Stock # |
R7648 (G1)
|
Quality Score |
225.009 |
Status
|
Validated
|
Chromosome |
5 |
Chromosomal Location |
72670644-72717027 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 72680879 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Lysine to Arginine
at position 747
(K747R)
|
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: K747R
PolyPhen 2
Score 0.120 (Sensitivity: 0.93; Specificity: 0.86)
|
SMART Domains |
Protein: ENSMUSP00000084467 Gene: ENSMUSG00000072889 AA Change: K747R
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 |
|
Meta Mutation Damage Score |
0.1077 |
Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.6%
- 20x: 98.8%
|
Validation Efficiency |
100% (53/53) |
Allele List at MGI |
|
Other mutations in this stock |
Total: 53 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
2610021A01Rik |
T |
C |
7: 41,261,886 (GRCm39) |
V46A |
possibly damaging |
Het |
Asb13 |
C |
A |
13: 3,699,332 (GRCm39) |
N177K |
probably damaging |
Het |
Asprv1 |
A |
G |
6: 86,605,852 (GRCm39) |
T233A |
probably damaging |
Het |
Atad2b |
T |
A |
12: 5,077,182 (GRCm39) |
|
probably null |
Het |
Atxn2 |
G |
T |
5: 121,934,440 (GRCm39) |
V880F |
probably damaging |
Het |
Car14 |
T |
C |
3: 95,805,507 (GRCm39) |
N322S |
probably benign |
Het |
Cdc42bpb |
T |
C |
12: 111,343,587 (GRCm39) |
E40G |
probably damaging |
Het |
Ceacam16 |
G |
T |
7: 19,586,203 (GRCm39) |
A103E |
unknown |
Het |
Cnnm2 |
A |
G |
19: 46,866,339 (GRCm39) |
D829G |
probably damaging |
Het |
Cpt1b |
C |
T |
15: 89,305,570 (GRCm39) |
A382T |
probably damaging |
Het |
Crygc |
A |
G |
1: 65,112,484 (GRCm39) |
F30S |
probably damaging |
Het |
Cstf2t |
A |
G |
19: 31,060,992 (GRCm39) |
Q176R |
possibly damaging |
Het |
Ctif |
A |
T |
18: 75,770,213 (GRCm39) |
H57Q |
probably benign |
Het |
Cyp2c40 |
A |
G |
19: 39,792,289 (GRCm39) |
*195Q |
probably null |
Het |
Cyp2j8 |
T |
A |
4: 96,387,840 (GRCm39) |
D207V |
probably damaging |
Het |
Ddx49 |
A |
G |
8: 70,750,605 (GRCm39) |
V123A |
possibly damaging |
Het |
E4f1 |
A |
T |
17: 24,664,422 (GRCm39) |
I456K |
probably benign |
Het |
Eif4b |
T |
C |
15: 101,997,435 (GRCm39) |
S317P |
unknown |
Het |
Enam |
A |
T |
5: 88,652,016 (GRCm39) |
Q1175L |
possibly damaging |
Het |
Eppk1 |
T |
C |
15: 75,994,871 (GRCm39) |
Y670C |
probably benign |
Het |
Fam163b |
G |
T |
2: 27,002,752 (GRCm39) |
Q82K |
probably benign |
Het |
Fam193a |
A |
T |
5: 34,588,526 (GRCm39) |
K358N |
probably damaging |
Het |
Gls |
C |
A |
1: 52,235,939 (GRCm39) |
R392L |
probably damaging |
Het |
Gramd1c |
A |
G |
16: 43,810,232 (GRCm39) |
V247A |
probably damaging |
Het |
Gucy1a1 |
C |
T |
3: 82,016,014 (GRCm39) |
E325K |
possibly damaging |
Het |
Hectd4 |
T |
C |
5: 121,392,434 (GRCm39) |
C233R |
possibly damaging |
Het |
Ice1 |
A |
G |
13: 70,737,916 (GRCm39) |
V2177A |
possibly damaging |
Het |
Kif28 |
A |
G |
1: 179,536,989 (GRCm39) |
V498A |
possibly damaging |
Het |
Klhdc7a |
T |
C |
4: 139,693,250 (GRCm39) |
S566G |
possibly damaging |
Het |
Mlph |
G |
A |
1: 90,861,248 (GRCm39) |
|
probably null |
Het |
Mndal |
T |
A |
1: 173,684,961 (GRCm39) |
Y536F |
probably benign |
Het |
Mrgpra2a |
A |
T |
7: 47,076,411 (GRCm39) |
C282* |
probably null |
Het |
Msantd5 |
G |
A |
11: 51,125,613 (GRCm39) |
E179K |
possibly damaging |
Het |
Msh3 |
A |
T |
13: 92,410,536 (GRCm39) |
I684N |
probably damaging |
Het |
Mylk |
G |
C |
16: 34,699,894 (GRCm39) |
S419T |
probably benign |
Het |
Nup98 |
T |
G |
7: 101,773,404 (GRCm39) |
H1641P |
possibly damaging |
Het |
Or8b35 |
A |
C |
9: 37,903,856 (GRCm39) |
T18P |
probably damaging |
Het |
Pcm1 |
A |
G |
8: 41,728,736 (GRCm39) |
N570D |
probably damaging |
Het |
Plekhh1 |
T |
A |
12: 79,101,905 (GRCm39) |
V325E |
probably benign |
Het |
Rabl3 |
A |
T |
16: 37,384,120 (GRCm39) |
I176F |
probably damaging |
Het |
Relb |
T |
C |
7: 19,353,767 (GRCm39) |
E37G |
possibly damaging |
Het |
Slc4a7 |
G |
A |
14: 14,773,348 (GRCm38) |
E773K |
probably benign |
Het |
Tars2 |
G |
A |
3: 95,658,294 (GRCm39) |
T177I |
probably benign |
Het |
Tenm2 |
T |
A |
11: 35,997,563 (GRCm39) |
N842I |
probably damaging |
Het |
Tmem175 |
A |
G |
5: 108,792,432 (GRCm39) |
E236G |
possibly damaging |
Het |
Trank1 |
A |
G |
9: 111,220,753 (GRCm39) |
T2497A |
probably benign |
Het |
Trf |
A |
G |
9: 103,105,168 (GRCm39) |
V48A |
probably benign |
Het |
Ttc28 |
A |
G |
5: 111,331,258 (GRCm39) |
K493E |
possibly damaging |
Het |
Unc50 |
T |
C |
1: 37,470,402 (GRCm39) |
S9P |
probably benign |
Het |
Uso1 |
T |
A |
5: 92,341,861 (GRCm39) |
|
probably null |
Het |
Usp49 |
A |
T |
17: 47,985,753 (GRCm39) |
N487I |
possibly damaging |
Het |
Xab2 |
T |
C |
8: 3,660,638 (GRCm39) |
D768G |
probably benign |
Het |
Xcr1 |
T |
C |
9: 123,685,657 (GRCm39) |
E35G |
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 |
|
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'- GCACTGGAAGGTAACAGCAC -3'
(R):5'- TGTGGGGCTTACAGAAGTGC -3'
Sequencing Primer
(F):5'- GTAACAGCACCTCCTCCTTTCAAG -3'
(R):5'- ATCTAAGTCTAAGTATGTGGACGTG -3'
|
Posted On |
2019-10-24 |