Incidental Mutation 'R6521:Nfxl1'
| ID |
521259 |
| 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 |
044647-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.144)
|
| Stock # |
R6521 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
5 |
| Chromosomal Location |
72670644-72717027 bp(-) (GRCm39) |
| Type of Mutation |
splice site (56 bp from exon) |
| DNA Base Change (assembly) |
A to T
at 72697651 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 damaging
Transcript: ENSMUST00000087216
AA Change: W366R
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000084467
Gene: ENSMUSG00000072889
AA Change: W366R
| 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 |
possibly damaging
Transcript: ENSMUST00000135318
AA Change: W366R
PolyPhen 2
Score 0.916 (Sensitivity: 0.81; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000114355
Gene: ENSMUSG00000072889
AA Change: W366R
| 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 |
0.8298 |
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.5%
- 10x: 97.5%
- 20x: 92.0%
|
| Validation Efficiency |
100% (48/48) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 49 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Aars1 |
T |
A |
8: 111,769,968 (GRCm39) |
S356T |
probably benign |
Het |
| Acsbg2 |
T |
C |
17: 57,168,565 (GRCm39) |
M185V |
probably benign |
Het |
| Adgrv1 |
A |
T |
13: 81,581,771 (GRCm39) |
F4758I |
probably damaging |
Het |
| Ank3 |
A |
G |
10: 69,828,596 (GRCm39) |
|
probably benign |
Het |
| Ankfy1 |
G |
A |
11: 72,621,308 (GRCm39) |
R198Q |
possibly damaging |
Het |
| Ano4 |
A |
G |
10: 88,819,640 (GRCm39) |
V537A |
probably damaging |
Het |
| Catsper2 |
A |
G |
2: 121,237,288 (GRCm39) |
L204P |
probably damaging |
Het |
| Cdh20 |
A |
C |
1: 104,869,859 (GRCm39) |
D193A |
probably damaging |
Het |
| Ceacam5 |
T |
C |
7: 17,484,756 (GRCm39) |
|
probably null |
Het |
| Celf4 |
T |
A |
18: 25,612,531 (GRCm39) |
|
probably null |
Het |
| Cfap91 |
A |
G |
16: 38,127,121 (GRCm39) |
V545A |
probably benign |
Het |
| Crebbp |
A |
T |
16: 3,936,992 (GRCm39) |
F754I |
probably damaging |
Het |
| Cyfip2 |
A |
T |
11: 46,145,415 (GRCm39) |
I635N |
probably damaging |
Het |
| Erbb4 |
T |
A |
1: 68,081,689 (GRCm39) |
D1131V |
probably damaging |
Het |
| Fsip2 |
A |
G |
2: 82,820,430 (GRCm39) |
T5388A |
possibly damaging |
Het |
| Hoxc8 |
G |
A |
15: 102,901,135 (GRCm39) |
V193M |
probably benign |
Het |
| Klhdc3 |
A |
G |
17: 46,988,687 (GRCm39) |
V124A |
probably benign |
Het |
| Klhl18 |
A |
G |
9: 110,257,703 (GRCm39) |
I509T |
possibly damaging |
Het |
| Mdfic |
T |
A |
6: 15,729,027 (GRCm39) |
|
probably benign |
Het |
| Mkln1 |
T |
A |
6: 31,467,479 (GRCm39) |
D64E |
probably damaging |
Het |
| Mmd2 |
A |
G |
5: 142,560,585 (GRCm39) |
I112T |
probably damaging |
Het |
| Mpl |
C |
T |
4: 118,312,314 (GRCm39) |
|
probably null |
Het |
| Mtmr4 |
A |
G |
11: 87,504,353 (GRCm39) |
T1044A |
possibly damaging |
Het |
| Muc5b |
C |
A |
7: 141,412,908 (GRCm39) |
Y1951* |
probably null |
Het |
| Myo15a |
C |
T |
11: 60,393,195 (GRCm39) |
H2240Y |
probably damaging |
Het |
| Nckap5 |
A |
T |
1: 126,309,909 (GRCm39) |
I74K |
probably damaging |
Het |
| Or11j4 |
T |
C |
14: 50,631,005 (GRCm39) |
V264A |
possibly damaging |
Het |
| Or2ah1 |
A |
T |
2: 85,653,794 (GRCm39) |
I160F |
probably benign |
Het |
| Or4c11c |
A |
G |
2: 88,661,700 (GRCm39) |
I80V |
probably benign |
Het |
| Or8d2 |
C |
T |
9: 38,759,893 (GRCm39) |
T161I |
probably benign |
Het |
| Piezo2 |
T |
C |
18: 63,154,399 (GRCm39) |
Y2460C |
probably damaging |
Het |
| Pigx |
A |
G |
16: 31,906,129 (GRCm39) |
L64P |
probably damaging |
Het |
| Prss1 |
C |
T |
6: 41,440,615 (GRCm39) |
T230I |
probably damaging |
Het |
| Ptma |
A |
G |
1: 86,455,569 (GRCm39) |
|
probably null |
Het |
| Rab39 |
T |
C |
9: 53,617,331 (GRCm39) |
T29A |
probably benign |
Het |
| Rem2 |
C |
T |
14: 54,715,144 (GRCm39) |
A107V |
possibly damaging |
Het |
| Senp1 |
A |
G |
15: 97,946,152 (GRCm39) |
V531A |
probably damaging |
Het |
| Serhl |
A |
G |
15: 82,985,843 (GRCm39) |
|
probably null |
Het |
| Sirpa |
T |
G |
2: 129,472,075 (GRCm39) |
Y164D |
probably damaging |
Het |
| Slc12a3 |
T |
C |
8: 95,069,741 (GRCm39) |
I550T |
possibly damaging |
Het |
| Slc22a14 |
T |
C |
9: 119,049,835 (GRCm39) |
|
probably null |
Het |
| Slfn5 |
A |
G |
11: 82,851,241 (GRCm39) |
N513D |
probably damaging |
Het |
| Sptan1 |
T |
C |
2: 29,910,467 (GRCm39) |
S1831P |
possibly damaging |
Het |
| Swap70 |
T |
C |
7: 109,855,027 (GRCm39) |
L109P |
probably benign |
Het |
| Tas2r119 |
G |
A |
15: 32,178,319 (GRCm39) |
C295Y |
probably damaging |
Het |
| Tcaf3 |
T |
A |
6: 42,570,172 (GRCm39) |
I527L |
probably damaging |
Het |
| Traj31 |
A |
G |
14: 54,425,387 (GRCm39) |
|
probably benign |
Het |
| Unc5a |
T |
A |
13: 55,152,748 (GRCm39) |
D887E |
probably benign |
Het |
| Zfp407 |
T |
A |
18: 84,450,536 (GRCm39) |
H1600L |
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 |
|
|
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 |
|
|
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'- AGGTGAGTGGTAAATCTATACACTG -3'
(R):5'- GGCATGCGTGAGAAACTCTG -3'
Sequencing Primer
(F):5'- TCAGCAACTAACTTATTTTGAGGG -3'
(R):5'- TCTGACTTTACACAGAGGCAG -3'
|
| Posted On |
2018-06-06 |
Incidental Mutation