Incidental Mutation 'R8186:Nfxl1'
ID |
634860 |
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 |
067609-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.144)
|
Stock # |
R8186 (G1)
|
Quality Score |
225.009 |
Status
|
Validated
|
Chromosome |
5 |
Chromosomal Location |
72670644-72717027 bp(-) (GRCm39) |
Type of Mutation |
critical splice donor site (2 bp from exon) |
DNA Base Change (assembly) |
A to G
at 72716355 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
|
Ref Sequence |
ENSEMBL: ENSMUSP00000074481
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000074948]
[ENSMUST00000087216]
[ENSMUST00000135318]
|
AlphaFold |
E9Q8I7 |
Predicted Effect |
probably null
Transcript: ENSMUST00000074948
|
SMART Domains |
Protein: ENSMUSP00000074481 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 |
|
Predicted Effect |
probably null
Transcript: ENSMUST00000087216
|
SMART Domains |
Protein: ENSMUSP00000084467 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 |
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: 99.6%
- 20x: 98.6%
|
Validation Efficiency |
100% (43/43) |
Allele List at MGI |
|
Other mutations in this stock |
Total: 46 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Add2 |
G |
A |
6: 86,085,002 (GRCm39) |
V543M |
probably benign |
Het |
Agl |
A |
G |
3: 116,552,557 (GRCm39) |
I459T |
possibly damaging |
Het |
Arhgap45 |
G |
A |
10: 79,863,706 (GRCm39) |
A819T |
probably damaging |
Het |
Atg16l2 |
C |
T |
7: 100,945,714 (GRCm39) |
|
probably null |
Het |
Bltp2 |
A |
G |
11: 78,177,457 (GRCm39) |
T1921A |
probably damaging |
Het |
C130073F10Rik |
G |
A |
4: 101,748,031 (GRCm39) |
R48* |
probably null |
Het |
Cdc25b |
C |
T |
2: 131,031,050 (GRCm39) |
T125M |
probably benign |
Het |
Cdc42bpg |
T |
A |
19: 6,356,895 (GRCm39) |
F50L |
probably damaging |
Het |
Chd9 |
T |
A |
8: 91,725,233 (GRCm39) |
D1187E |
unknown |
Het |
Col4a2 |
T |
C |
8: 11,475,542 (GRCm39) |
|
probably null |
Het |
Cped1 |
T |
C |
6: 22,123,587 (GRCm39) |
S447P |
probably benign |
Het |
Ddx19a |
T |
A |
8: 111,710,274 (GRCm39) |
M109L |
probably benign |
Het |
Def8 |
C |
A |
8: 124,188,215 (GRCm39) |
Y431* |
probably null |
Het |
Gata4 |
A |
G |
14: 63,438,962 (GRCm39) |
S373P |
probably benign |
Het |
Gm9837 |
A |
T |
11: 53,361,136 (GRCm39) |
L26* |
probably null |
Het |
Hspa1b |
A |
T |
17: 35,176,557 (GRCm39) |
V476E |
probably damaging |
Het |
Htr5b |
G |
A |
1: 121,456,108 (GRCm39) |
|
probably benign |
Het |
Hydin |
T |
C |
8: 111,336,277 (GRCm39) |
V5018A |
probably benign |
Het |
Ighv1-85 |
A |
G |
12: 115,963,923 (GRCm39) |
S26P |
probably benign |
Het |
Kics2 |
T |
A |
10: 121,581,247 (GRCm39) |
F83I |
possibly damaging |
Het |
Lrrc2 |
A |
G |
9: 110,789,910 (GRCm39) |
K56E |
possibly damaging |
Het |
Macf1 |
A |
T |
4: 123,266,219 (GRCm39) |
I6793N |
probably damaging |
Het |
Macf1 |
A |
C |
4: 123,275,923 (GRCm39) |
V6215G |
possibly damaging |
Het |
Nbeal1 |
G |
C |
1: 60,276,310 (GRCm39) |
V684L |
probably benign |
Het |
Odad4 |
A |
G |
11: 100,454,505 (GRCm39) |
D430G |
probably benign |
Het |
Oprk1 |
A |
T |
1: 5,672,540 (GRCm39) |
M226L |
probably benign |
Het |
Or1e1 |
T |
C |
11: 73,245,247 (GRCm39) |
S223P |
possibly damaging |
Het |
Phf2 |
A |
G |
13: 48,961,227 (GRCm39) |
L821P |
unknown |
Het |
Rdh7 |
C |
A |
10: 127,723,284 (GRCm39) |
|
probably null |
Het |
Rpl11 |
A |
G |
4: 135,778,968 (GRCm39) |
V74A |
possibly damaging |
Het |
Safb2 |
G |
A |
17: 56,873,051 (GRCm39) |
R790C |
possibly damaging |
Het |
Sgpp2 |
T |
C |
1: 78,393,609 (GRCm39) |
F204S |
probably benign |
Het |
Sgsm3 |
A |
C |
15: 80,893,643 (GRCm39) |
I426L |
possibly damaging |
Het |
Speer1b |
A |
G |
5: 11,823,926 (GRCm39) |
D158G |
probably damaging |
Het |
Styxl2 |
A |
G |
1: 165,927,648 (GRCm39) |
S655P |
probably damaging |
Het |
Tbccd1 |
A |
G |
16: 22,637,189 (GRCm39) |
L545P |
probably damaging |
Het |
Toporsl |
T |
A |
4: 52,610,489 (GRCm39) |
F127L |
probably damaging |
Het |
Ttn |
T |
G |
2: 76,749,256 (GRCm39) |
Q3931P |
probably damaging |
Het |
Tuba1c |
C |
A |
15: 98,935,396 (GRCm39) |
L286I |
probably benign |
Het |
Usp48 |
A |
G |
4: 137,348,507 (GRCm39) |
R528G |
possibly damaging |
Het |
Utrn |
T |
C |
10: 12,573,867 (GRCm39) |
T1068A |
probably benign |
Het |
Vmn2r103 |
A |
T |
17: 20,032,205 (GRCm39) |
T660S |
probably damaging |
Het |
Vmn2r105 |
G |
T |
17: 20,444,880 (GRCm39) |
Y537* |
probably null |
Het |
Vmn2r88 |
A |
T |
14: 51,656,157 (GRCm39) |
I744F |
|
Het |
Wnt9b |
T |
C |
11: 103,621,601 (GRCm39) |
E352G |
probably damaging |
Het |
Zfp78 |
A |
G |
7: 6,376,228 (GRCm39) |
N46D |
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 |
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 |
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'- CTGCACACAATTGAAGAAAGTGAC -3'
(R):5'- CAGGAAATGGAGTCCCTTTTGG -3'
Sequencing Primer
(F):5'- TATCAATTAAAATGAGGATGCAAGCG -3'
(R):5'- AGTCCCTTTTGGTGGCGC -3'
|
Posted On |
2020-07-13 |