Incidental Mutation 'R9330:Nfxl1'
ID |
706785 |
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 # |
R9330 (G1)
|
Quality Score |
225.009 |
Status
|
Validated
|
Chromosome |
5 |
Chromosomal Location |
72670644-72717027 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to T
at 72681451 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Aspartic acid to Glutamic Acid
at position 693
(D693E)
|
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: D693E
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
SMART Domains |
Protein: ENSMUSP00000084467 Gene: ENSMUSG00000072889 AA Change: D693E
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 |
0.0638 |
Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.7%
- 20x: 99.0%
|
Validation Efficiency |
100% (52/52) |
Allele List at MGI |
|
Other mutations in this stock |
Total: 52 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
2900026A02Rik |
T |
A |
5: 113,330,833 (GRCm39) |
D1127V |
probably benign |
Het |
Ajap1 |
A |
G |
4: 153,516,961 (GRCm39) |
S127P |
probably damaging |
Het |
Cdon |
T |
A |
9: 35,400,275 (GRCm39) |
Y996* |
probably null |
Het |
Cnr2 |
A |
G |
4: 135,644,312 (GRCm39) |
D130G |
probably damaging |
Het |
Cyp2j12 |
A |
G |
4: 95,994,791 (GRCm39) |
V344A |
probably damaging |
Het |
Cyp4a32 |
T |
A |
4: 115,478,635 (GRCm39) |
C456S |
probably damaging |
Het |
Dipk1a |
A |
T |
5: 108,059,583 (GRCm39) |
D123E |
probably benign |
Het |
Dsc1 |
T |
A |
18: 20,243,214 (GRCm39) |
T80S |
possibly damaging |
Het |
Esyt2 |
G |
A |
12: 116,305,765 (GRCm39) |
V332I |
probably benign |
Het |
Fcgbpl1 |
C |
T |
7: 27,856,410 (GRCm39) |
H2066Y |
probably benign |
Het |
G2e3 |
C |
T |
12: 51,403,928 (GRCm39) |
Q161* |
probably null |
Het |
Galnt18 |
C |
A |
7: 111,071,271 (GRCm39) |
R566L |
probably benign |
Het |
Gatb |
C |
T |
3: 85,559,801 (GRCm39) |
P542S |
probably benign |
Het |
Gpt |
G |
A |
15: 76,581,215 (GRCm39) |
R53H |
possibly damaging |
Het |
Herpud2 |
T |
C |
9: 25,036,246 (GRCm39) |
E138G |
probably damaging |
Het |
Hivep1 |
A |
G |
13: 42,317,713 (GRCm39) |
Y2063C |
probably damaging |
Het |
Hoxd12 |
T |
A |
2: 74,505,733 (GRCm39) |
Y101* |
probably null |
Het |
Hps4 |
G |
A |
5: 112,525,905 (GRCm39) |
S642N |
possibly damaging |
Het |
Lama4 |
T |
C |
10: 38,954,722 (GRCm39) |
F1092L |
probably damaging |
Het |
Lrp1b |
A |
G |
2: 41,012,993 (GRCm39) |
S1985P |
|
Het |
Malrd1 |
C |
T |
2: 16,260,089 (GRCm39) |
P2103L |
unknown |
Het |
Mbnl1 |
C |
A |
3: 60,511,168 (GRCm39) |
N41K |
possibly damaging |
Het |
Muc16 |
T |
C |
9: 18,552,332 (GRCm39) |
N4654D |
probably benign |
Het |
Mug1 |
A |
G |
6: 121,859,723 (GRCm39) |
T1241A |
probably benign |
Het |
Ncam1 |
T |
C |
9: 49,456,097 (GRCm39) |
D507G |
probably benign |
Het |
Npr1 |
A |
T |
3: 90,365,979 (GRCm39) |
I604N |
possibly damaging |
Het |
Obscn |
G |
A |
11: 58,971,047 (GRCm39) |
H2280Y |
possibly damaging |
Het |
Or5b105 |
T |
A |
19: 13,080,588 (GRCm39) |
I27F |
probably benign |
Het |
Or7c70 |
T |
C |
10: 78,683,153 (GRCm39) |
T199A |
probably benign |
Het |
Pcdh10 |
T |
C |
3: 45,335,618 (GRCm39) |
V644A |
probably damaging |
Het |
Pgk2 |
T |
A |
17: 40,519,078 (GRCm39) |
I117F |
probably benign |
Het |
Pinx1 |
T |
A |
14: 64,109,777 (GRCm39) |
S110T |
probably benign |
Het |
Pira1 |
A |
T |
7: 3,742,234 (GRCm39) |
C98S |
probably damaging |
Het |
Psmd1 |
A |
G |
1: 86,061,490 (GRCm39) |
Y900C |
probably damaging |
Het |
Rab3a |
C |
T |
8: 71,209,881 (GRCm39) |
R149C |
probably damaging |
Het |
Samsn1 |
T |
A |
16: 75,673,433 (GRCm39) |
N148Y |
probably damaging |
Het |
Sin3a |
C |
T |
9: 57,032,481 (GRCm39) |
R1142C |
probably damaging |
Het |
Snrnp27 |
A |
G |
6: 86,653,184 (GRCm39) |
C145R |
probably benign |
Het |
Sorl1 |
A |
C |
9: 41,979,229 (GRCm39) |
V423G |
probably damaging |
Het |
Sptlc3 |
G |
T |
2: 139,388,423 (GRCm39) |
M138I |
probably benign |
Het |
Tex15 |
T |
A |
8: 34,065,143 (GRCm39) |
F1524L |
probably benign |
Het |
Tln2 |
T |
C |
9: 67,229,213 (GRCm39) |
N113D |
possibly damaging |
Het |
Tmco1 |
C |
T |
1: 167,136,132 (GRCm39) |
|
probably benign |
Het |
Tnfsf14 |
T |
A |
17: 57,501,020 (GRCm39) |
D17V |
probably damaging |
Het |
Trmt44 |
T |
C |
5: 35,727,264 (GRCm39) |
D317G |
probably damaging |
Het |
Trpc2 |
T |
C |
7: 101,739,764 (GRCm39) |
F563L |
probably benign |
Het |
Ubox5 |
T |
C |
2: 130,442,165 (GRCm39) |
K174R |
probably benign |
Het |
Vrk3 |
T |
C |
7: 44,424,910 (GRCm39) |
S442P |
probably damaging |
Het |
Wdr64 |
A |
T |
1: 175,554,024 (GRCm39) |
T185S |
possibly damaging |
Het |
Wfdc15a |
A |
T |
2: 164,041,632 (GRCm39) |
C64S |
probably damaging |
Het |
Zfp688 |
A |
G |
7: 127,021,077 (GRCm39) |
Y34H |
probably damaging |
Het |
Zfp808 |
A |
T |
13: 62,319,974 (GRCm39) |
H401L |
probably benign |
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 |
|
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'- AGCACTTCTGTAAGCCCCAC -3'
(R):5'- AGGAATGTGTTGACAGGTGC -3'
Sequencing Primer
(F):5'- GCAGGTACAATGCTTACTGC -3'
(R):5'- TGGAAACATGTTAGACCATTGTG -3'
|
Posted On |
2022-04-18 |