Incidental Mutation 'R9419:Nfxl1'
| ID |
712217 |
| 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 # |
R9419 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
5 |
| Chromosomal Location |
72670644-72717027 bp(-) (GRCm39) |
| Type of Mutation |
intron |
| DNA Base Change (assembly) |
G to A
at 72716641 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000114355
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000074948]
[ENSMUST00000087216]
[ENSMUST00000135318]
|
| AlphaFold |
E9Q8I7 |
| Predicted Effect |
probably benign
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 benign
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: 99.7%
- 20x: 99.1%
|
| Validation Efficiency |
100% (47/47) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 48 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1700064H15Rik |
T |
C |
3: 19,682,685 (GRCm39) |
T30A |
unknown |
Het |
| Abca12 |
A |
G |
1: 71,342,649 (GRCm39) |
Y944H |
possibly damaging |
Het |
| Adgrv1 |
T |
C |
13: 81,656,887 (GRCm39) |
N2869S |
probably benign |
Het |
| Ank1 |
C |
A |
8: 23,574,825 (GRCm39) |
Q140K |
probably damaging |
Het |
| Aspm |
T |
A |
1: 139,384,923 (GRCm39) |
M189K |
probably benign |
Het |
| Atp2b1 |
G |
T |
10: 98,837,178 (GRCm39) |
R539L |
possibly damaging |
Het |
| Camsap1 |
A |
G |
2: 25,845,304 (GRCm39) |
S152P |
|
Het |
| Catsperd |
A |
T |
17: 56,958,821 (GRCm39) |
I276L |
probably benign |
Het |
| Cbarp |
A |
G |
10: 79,967,861 (GRCm39) |
V460A |
probably damaging |
Het |
| Ccdc168 |
T |
C |
1: 44,096,935 (GRCm39) |
I1388V |
probably benign |
Het |
| Cd40 |
A |
T |
2: 164,904,162 (GRCm39) |
|
probably benign |
Het |
| Cdk11b |
A |
T |
4: 155,724,302 (GRCm39) |
T307S |
unknown |
Het |
| Chfr |
C |
T |
5: 110,317,056 (GRCm39) |
T643I |
probably damaging |
Het |
| Cnbd1 |
T |
C |
4: 19,098,156 (GRCm39) |
Q88R |
probably benign |
Het |
| Col15a1 |
G |
C |
4: 47,288,200 (GRCm39) |
|
probably benign |
Het |
| Ghdc |
G |
T |
11: 100,661,081 (GRCm39) |
A28D |
probably damaging |
Het |
| Gm5114 |
T |
C |
7: 39,057,540 (GRCm39) |
H693R |
possibly damaging |
Het |
| H2-M1 |
G |
T |
17: 36,981,231 (GRCm39) |
A268E |
probably damaging |
Het |
| Hsf5 |
A |
G |
11: 87,528,935 (GRCm39) |
N557D |
probably benign |
Het |
| Ighg2c |
A |
G |
12: 113,251,015 (GRCm39) |
|
probably benign |
Het |
| Il17ra |
C |
A |
6: 120,458,255 (GRCm39) |
Q469K |
possibly damaging |
Het |
| Ipo8 |
T |
A |
6: 148,686,064 (GRCm39) |
N809Y |
probably benign |
Het |
| Klra10 |
T |
A |
6: 130,256,435 (GRCm39) |
Q73L |
probably damaging |
Het |
| Lamb2 |
T |
C |
9: 108,356,959 (GRCm39) |
V3A |
unknown |
Het |
| Map3k9 |
T |
C |
12: 81,827,341 (GRCm39) |
Y103C |
probably damaging |
Het |
| Map4 |
T |
C |
9: 109,882,029 (GRCm39) |
S298P |
possibly damaging |
Het |
| Mtus2 |
T |
A |
5: 148,243,451 (GRCm39) |
N1254K |
probably damaging |
Het |
| Nap1l5 |
T |
A |
6: 58,883,952 (GRCm39) |
M1L |
probably benign |
Het |
| Nmd3 |
T |
C |
3: 69,643,349 (GRCm39) |
I227T |
probably benign |
Het |
| Or8c10 |
T |
G |
9: 38,279,162 (GRCm39) |
C97G |
probably damaging |
Het |
| Pramel39-ps |
G |
T |
5: 94,451,001 (GRCm39) |
P375H |
probably damaging |
Het |
| Ptchd3 |
G |
A |
11: 121,732,356 (GRCm39) |
M415I |
possibly damaging |
Het |
| Rab28 |
A |
T |
5: 41,793,182 (GRCm39) |
S154R |
possibly damaging |
Het |
| Rin1 |
A |
G |
19: 5,103,735 (GRCm39) |
E567G |
probably damaging |
Het |
| Rrbp1 |
A |
C |
2: 143,811,436 (GRCm39) |
V806G |
probably benign |
Het |
| Sec63 |
T |
A |
10: 42,679,901 (GRCm39) |
L326Q |
probably damaging |
Het |
| Serinc2 |
T |
C |
4: 130,149,315 (GRCm39) |
T296A |
probably damaging |
Het |
| Skint10 |
G |
A |
4: 112,572,981 (GRCm39) |
L272F |
probably damaging |
Het |
| Slc4a11 |
C |
T |
2: 130,533,664 (GRCm39) |
A100T |
probably damaging |
Het |
| Stag1 |
A |
G |
9: 100,811,967 (GRCm39) |
Q815R |
probably benign |
Het |
| Stat3 |
A |
G |
11: 100,780,357 (GRCm39) |
M735T |
possibly damaging |
Het |
| Stat3 |
A |
G |
11: 100,784,738 (GRCm39) |
I576T |
probably benign |
Het |
| Styxl2 |
T |
C |
1: 165,927,755 (GRCm39) |
Q619R |
probably damaging |
Het |
| Syne1 |
T |
C |
10: 5,155,071 (GRCm39) |
K5623E |
probably benign |
Het |
| Tas1r2 |
T |
C |
4: 139,387,036 (GRCm39) |
V165A |
possibly damaging |
Het |
| Tcaf3 |
A |
T |
6: 42,573,716 (GRCm39) |
D165E |
probably benign |
Het |
| Tex2 |
G |
A |
11: 106,457,835 (GRCm39) |
Q532* |
probably null |
Het |
| Utrn |
T |
C |
10: 12,564,125 (GRCm39) |
E1245G |
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 |
|
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 |
|
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'- CTGGCAGCCAGCGATAAGTA -3'
(R):5'- ACTTCTCCTGAGGCTGAGGA -3'
Sequencing Primer
(F):5'- GAGCCATCCTCACCTGAGC -3'
(R):5'- CCTGAGGCTGAGGAGAATTTC -3'
|
| Posted On |
2022-05-16 |
Incidental Mutation