Incidental Mutation 'R2879:Lnx1'
| ID |
260220 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Lnx1
|
| Ensembl Gene |
ENSMUSG00000029228 |
| Gene Name |
ligand of numb-protein X 1 |
| Synonyms |
|
| MMRRC Submission |
040467-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.089)
|
| Stock # |
R2879 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
5 |
| Chromosomal Location |
74753108-74863573 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to T
at 74780784 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Methionine
at position 246
(V246M)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000121094
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000039744]
[ENSMUST00000087161]
[ENSMUST00000113531]
[ENSMUST00000117388]
[ENSMUST00000117525]
[ENSMUST00000121690]
[ENSMUST00000127396]
[ENSMUST00000153543]
|
| AlphaFold |
O70263 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000039744
AA Change: V305M
PolyPhen 2
Score 0.028 (Sensitivity: 0.95; Specificity: 0.81)
|
| SMART Domains |
Protein: ENSMUSP00000040098
Gene: ENSMUSG00000029228
AA Change: V305M
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
4 |
12 |
N/A |
INTRINSIC |
|
Blast:PDZ
|
57 |
164 |
1e-33 |
BLAST |
|
PDZ
|
188 |
263 |
5.33e-19 |
SMART |
|
PDZ
|
295 |
368 |
2.27e-13 |
SMART |
|
PDZ
|
417 |
494 |
8.27e-16 |
SMART |
|
PDZ
|
547 |
624 |
5.71e-19 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000087161
AA Change: V405M
PolyPhen 2
Score 0.034 (Sensitivity: 0.95; Specificity: 0.82)
|
| SMART Domains |
Protein: ENSMUSP00000084405
Gene: ENSMUSG00000029228
AA Change: V405M
| Domain | Start | End | E-Value | Type |
|---|
|
RING
|
45 |
82 |
5.82e-6 |
SMART |
|
low complexity region
|
97 |
107 |
N/A |
INTRINSIC |
|
Blast:PDZ
|
157 |
264 |
3e-33 |
BLAST |
|
PDZ
|
288 |
363 |
5.33e-19 |
SMART |
|
PDZ
|
395 |
468 |
2.27e-13 |
SMART |
|
PDZ
|
517 |
594 |
8.27e-16 |
SMART |
|
PDZ
|
647 |
724 |
5.71e-19 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000113531
AA Change: V246M
PolyPhen 2
Score 0.034 (Sensitivity: 0.95; Specificity: 0.82)
|
| SMART Domains |
Protein: ENSMUSP00000109159
Gene: ENSMUSG00000029228
AA Change: V246M
| Domain | Start | End | E-Value | Type |
|---|
|
Blast:PDZ
|
2 |
105 |
2e-32 |
BLAST |
|
PDZ
|
129 |
204 |
5.33e-19 |
SMART |
|
PDZ
|
236 |
309 |
2.27e-13 |
SMART |
|
PDZ
|
358 |
435 |
8.27e-16 |
SMART |
|
PDZ
|
488 |
565 |
5.71e-19 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000117388
AA Change: V405M
PolyPhen 2
Score 0.034 (Sensitivity: 0.95; Specificity: 0.82)
|
| SMART Domains |
Protein: ENSMUSP00000113035
Gene: ENSMUSG00000029228
AA Change: V405M
| Domain | Start | End | E-Value | Type |
|---|
|
RING
|
45 |
82 |
5.82e-6 |
SMART |
|
low complexity region
|
97 |
107 |
N/A |
INTRINSIC |
|
Blast:PDZ
|
157 |
264 |
3e-33 |
BLAST |
|
PDZ
|
288 |
363 |
5.33e-19 |
SMART |
|
PDZ
|
395 |
468 |
2.27e-13 |
SMART |
|
PDZ
|
517 |
594 |
8.27e-16 |
SMART |
|
PDZ
|
647 |
724 |
5.71e-19 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000117525
AA Change: V305M
PolyPhen 2
Score 0.028 (Sensitivity: 0.95; Specificity: 0.81)
|
| SMART Domains |
Protein: ENSMUSP00000113837
Gene: ENSMUSG00000029228
AA Change: V305M
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
4 |
12 |
N/A |
INTRINSIC |
|
Blast:PDZ
|
57 |
164 |
1e-33 |
BLAST |
|
PDZ
|
188 |
263 |
5.33e-19 |
SMART |
|
PDZ
|
295 |
368 |
2.27e-13 |
SMART |
|
PDZ
|
417 |
494 |
8.27e-16 |
SMART |
|
PDZ
|
547 |
624 |
5.71e-19 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000121690
AA Change: V295M
PolyPhen 2
Score 0.019 (Sensitivity: 0.95; Specificity: 0.80)
|
| SMART Domains |
Protein: ENSMUSP00000113565
Gene: ENSMUSG00000029228
AA Change: V295M
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
4 |
12 |
N/A |
INTRINSIC |
|
PDZ
|
178 |
253 |
5.33e-19 |
SMART |
|
PDZ
|
285 |
358 |
2.27e-13 |
SMART |
|
PDZ
|
407 |
484 |
8.27e-16 |
SMART |
|
PDZ
|
537 |
614 |
5.71e-19 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000127396
|
| SMART Domains |
Protein: ENSMUSP00000120886
Gene: ENSMUSG00000029228
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
4 |
12 |
N/A |
INTRINSIC |
|
| Predicted Effect |
unknown
Transcript: ENSMUST00000140084
AA Change: V88M
|
| SMART Domains |
Protein: ENSMUSP00000117935
Gene: ENSMUSG00000029228
AA Change: V88M
| Domain | Start | End | E-Value | Type |
|---|
|
PDZ
|
1 |
47 |
2.73e-1 |
SMART |
|
PDZ
|
79 |
154 |
1.51e-9 |
SMART |
|
PDZ
|
156 |
233 |
8.27e-16 |
SMART |
|
SCOP:d1qaua_
|
274 |
322 |
3e-7 |
SMART |
|
Blast:PDZ
|
286 |
322 |
4e-19 |
BLAST |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000153543
AA Change: V246M
PolyPhen 2
Score 0.034 (Sensitivity: 0.95; Specificity: 0.82)
|
| SMART Domains |
Protein: ENSMUSP00000121094
Gene: ENSMUSG00000029228
AA Change: V246M
| Domain | Start | End | E-Value | Type |
|---|
|
Blast:PDZ
|
2 |
105 |
9e-37 |
BLAST |
|
Blast:PDZ
|
129 |
159 |
1e-12 |
BLAST |
|
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.4%
- 20x: 95.3%
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a membrane-bound protein that is involved in signal transduction and protein interactions. The encoded product is an E3 ubiquitin-protein ligase, which mediates ubiquitination and subsequent proteasomal degradation of proteins containing phosphotyrosine binding (PTB) domains. This protein may play an important role in tumorogenesis. Alternatively spliced transcript variants encoding distinct isoforms have been described. A pseudogene, which is located on chromosome 17, has been identified for this gene. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for a targeted mutation exhibit an increased percentage of B1-like B cells in peritoneal lavage when compared with that of controls. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 45 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca17 |
G |
C |
17: 24,508,481 (GRCm39) |
T1018R |
probably damaging |
Het |
| Acte1 |
T |
A |
7: 143,447,800 (GRCm39) |
Y214* |
probably null |
Het |
| Akap9 |
A |
G |
5: 4,026,353 (GRCm39) |
|
probably benign |
Het |
| Ankrd29 |
G |
A |
18: 12,387,757 (GRCm39) |
A275V |
possibly damaging |
Het |
| Ano6 |
T |
A |
15: 95,841,308 (GRCm39) |
C468* |
probably null |
Het |
| Arhgef10l |
G |
T |
4: 140,242,598 (GRCm39) |
H890Q |
probably benign |
Het |
| Ccnj |
T |
A |
19: 40,833,158 (GRCm39) |
L112Q |
probably damaging |
Het |
| Chaf1a |
T |
C |
17: 56,351,114 (GRCm39) |
|
probably null |
Het |
| Chchd4 |
A |
G |
6: 91,442,200 (GRCm39) |
S73P |
probably damaging |
Het |
| Chd3 |
T |
C |
11: 69,254,924 (GRCm39) |
K139E |
possibly damaging |
Het |
| Cyp2b13 |
T |
G |
7: 25,785,456 (GRCm39) |
|
probably null |
Het |
| Dagla |
T |
C |
19: 10,248,448 (GRCm39) |
I71V |
possibly damaging |
Het |
| Epor |
A |
T |
9: 21,870,936 (GRCm39) |
W315R |
probably damaging |
Het |
| Etv1 |
T |
A |
12: 38,833,809 (GRCm39) |
|
probably null |
Het |
| Fbn2 |
A |
T |
18: 58,202,314 (GRCm39) |
C1280S |
probably damaging |
Het |
| Fbxo2 |
G |
C |
4: 148,250,468 (GRCm39) |
R269P |
probably damaging |
Het |
| Fer1l4 |
A |
T |
2: 155,894,120 (GRCm39) |
L61Q |
probably damaging |
Het |
| Ggnbp2 |
C |
T |
11: 84,723,797 (GRCm39) |
|
probably null |
Het |
| Grm7 |
G |
T |
6: 110,623,309 (GRCm39) |
V161F |
probably damaging |
Het |
| Ibsp |
G |
A |
5: 104,458,260 (GRCm39) |
E266K |
possibly damaging |
Het |
| Lamb3 |
T |
A |
1: 193,013,092 (GRCm39) |
M439K |
possibly damaging |
Het |
| Lrrc32 |
A |
G |
7: 98,148,984 (GRCm39) |
Q588R |
probably benign |
Het |
| Magi2 |
A |
AG |
5: 20,807,459 (GRCm39) |
|
probably null |
Het |
| Med13 |
C |
T |
11: 86,189,988 (GRCm39) |
A974T |
possibly damaging |
Het |
| Mogat2 |
A |
T |
7: 98,871,573 (GRCm39) |
I246N |
possibly damaging |
Het |
| Myl2 |
T |
C |
5: 122,242,748 (GRCm39) |
|
probably null |
Het |
| Obscn |
T |
C |
11: 59,022,472 (GRCm39) |
R758G |
possibly damaging |
Het |
| Or1p1c |
T |
A |
11: 74,161,049 (GRCm39) |
V278D |
probably damaging |
Het |
| Osbpl8 |
T |
A |
10: 111,105,297 (GRCm39) |
S251T |
probably benign |
Het |
| Pik3r2 |
A |
G |
8: 71,225,029 (GRCm39) |
Y145H |
probably benign |
Het |
| Plg |
A |
G |
17: 12,622,987 (GRCm39) |
E509G |
possibly damaging |
Het |
| Pnkp |
T |
A |
7: 44,508,102 (GRCm39) |
S142T |
probably damaging |
Het |
| Ros1 |
C |
T |
10: 52,048,936 (GRCm39) |
|
probably null |
Het |
| Sbno1 |
A |
G |
5: 124,526,635 (GRCm39) |
M960T |
probably damaging |
Het |
| Smad1 |
T |
C |
8: 80,080,084 (GRCm39) |
|
probably null |
Het |
| Ssc5d |
G |
A |
7: 4,939,906 (GRCm39) |
|
probably null |
Het |
| Tfcp2 |
C |
T |
15: 100,449,201 (GRCm39) |
|
probably null |
Het |
| Tmem121 |
A |
G |
12: 113,152,028 (GRCm39) |
Y82C |
probably damaging |
Het |
| Tmem131 |
T |
C |
1: 36,880,788 (GRCm39) |
I161V |
possibly damaging |
Het |
| Tpp2 |
T |
A |
1: 44,010,783 (GRCm39) |
F523L |
probably damaging |
Het |
| Ttn |
C |
T |
2: 76,601,849 (GRCm39) |
|
silent |
Het |
| Ttpal |
A |
G |
2: 163,457,503 (GRCm39) |
|
probably null |
Het |
| Vdr |
T |
A |
15: 97,757,008 (GRCm39) |
Y288F |
probably benign |
Het |
| Wipf2 |
C |
T |
11: 98,783,480 (GRCm39) |
A302V |
probably benign |
Het |
| Zfp346 |
T |
G |
13: 55,253,163 (GRCm39) |
C3G |
possibly damaging |
Het |
|
| Other mutations in Lnx1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00965:Lnx1
|
APN |
5 |
74,846,378 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL01538:Lnx1
|
APN |
5 |
74,780,816 (GRCm39) |
missense |
possibly damaging |
0.50 |
|
IGL02351:Lnx1
|
APN |
5 |
74,788,027 (GRCm39) |
missense |
probably damaging |
0.97 |
|
IGL02358:Lnx1
|
APN |
5 |
74,788,027 (GRCm39) |
missense |
probably damaging |
0.97 |
|
IGL03011:Lnx1
|
APN |
5 |
74,846,420 (GRCm39) |
missense |
probably benign |
0.02 |
|
IGL03188:Lnx1
|
APN |
5 |
74,780,924 (GRCm39) |
missense |
probably damaging |
1.00 |
|
bobcat
|
UTSW |
5 |
74,846,351 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Caracal
|
UTSW |
5 |
74,766,710 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0490:Lnx1
|
UTSW |
5 |
74,781,008 (GRCm39) |
critical splice acceptor site |
probably null |
|
|
R0714:Lnx1
|
UTSW |
5 |
74,768,570 (GRCm39) |
splice site |
probably benign |
|
|
R1343:Lnx1
|
UTSW |
5 |
74,758,040 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R1533:Lnx1
|
UTSW |
5 |
74,780,678 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1681:Lnx1
|
UTSW |
5 |
74,846,071 (GRCm39) |
missense |
probably benign |
|
|
R1714:Lnx1
|
UTSW |
5 |
74,768,398 (GRCm39) |
missense |
probably null |
1.00 |
|
R1727:Lnx1
|
UTSW |
5 |
74,768,577 (GRCm39) |
splice site |
probably null |
|
|
R1806:Lnx1
|
UTSW |
5 |
74,766,710 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2091:Lnx1
|
UTSW |
5 |
74,780,727 (GRCm39) |
missense |
probably benign |
0.25 |
|
R2984:Lnx1
|
UTSW |
5 |
74,846,083 (GRCm39) |
nonsense |
probably null |
|
|
R3790:Lnx1
|
UTSW |
5 |
74,789,027 (GRCm39) |
splice site |
probably benign |
|
|
R3953:Lnx1
|
UTSW |
5 |
74,766,750 (GRCm39) |
missense |
probably benign |
|
|
R4509:Lnx1
|
UTSW |
5 |
74,780,853 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4510:Lnx1
|
UTSW |
5 |
74,780,853 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4511:Lnx1
|
UTSW |
5 |
74,780,853 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4575:Lnx1
|
UTSW |
5 |
74,846,204 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4583:Lnx1
|
UTSW |
5 |
74,771,457 (GRCm39) |
missense |
probably benign |
0.16 |
|
R4624:Lnx1
|
UTSW |
5 |
74,821,121 (GRCm39) |
intron |
probably benign |
|
|
R4647:Lnx1
|
UTSW |
5 |
74,771,457 (GRCm39) |
missense |
probably benign |
0.16 |
|
R4648:Lnx1
|
UTSW |
5 |
74,771,457 (GRCm39) |
missense |
probably benign |
0.16 |
|
R4877:Lnx1
|
UTSW |
5 |
74,788,784 (GRCm39) |
missense |
probably benign |
0.01 |
|
R4883:Lnx1
|
UTSW |
5 |
74,768,530 (GRCm39) |
missense |
probably benign |
|
|
R5256:Lnx1
|
UTSW |
5 |
74,846,315 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6169:Lnx1
|
UTSW |
5 |
74,838,230 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6185:Lnx1
|
UTSW |
5 |
74,846,269 (GRCm39) |
nonsense |
probably null |
|
|
R6408:Lnx1
|
UTSW |
5 |
74,846,307 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6476:Lnx1
|
UTSW |
5 |
74,768,541 (GRCm39) |
missense |
possibly damaging |
0.52 |
|
R7083:Lnx1
|
UTSW |
5 |
74,788,846 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R7085:Lnx1
|
UTSW |
5 |
74,788,846 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R7261:Lnx1
|
UTSW |
5 |
74,838,175 (GRCm39) |
nonsense |
probably null |
|
|
R7511:Lnx1
|
UTSW |
5 |
74,780,972 (GRCm39) |
missense |
probably benign |
0.01 |
|
R7574:Lnx1
|
UTSW |
5 |
74,846,099 (GRCm39) |
missense |
probably benign |
0.33 |
|
R7670:Lnx1
|
UTSW |
5 |
74,846,351 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8145:Lnx1
|
UTSW |
5 |
74,846,060 (GRCm39) |
missense |
probably benign |
0.22 |
|
R9015:Lnx1
|
UTSW |
5 |
74,780,783 (GRCm39) |
missense |
probably benign |
0.00 |
|
R9224:Lnx1
|
UTSW |
5 |
74,766,810 (GRCm39) |
missense |
probably benign |
0.37 |
|
R9321:Lnx1
|
UTSW |
5 |
74,780,991 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9340:Lnx1
|
UTSW |
5 |
74,758,584 (GRCm39) |
missense |
probably benign |
0.01 |
|
R9704:Lnx1
|
UTSW |
5 |
74,780,879 (GRCm39) |
missense |
probably benign |
0.02 |
|
Z1177:Lnx1
|
UTSW |
5 |
74,788,102 (GRCm39) |
missense |
possibly damaging |
0.80 |
|
| Predicted Primers |
PCR Primer
(F):5'- CTGACTGAGATCTTAGGGTGAC -3'
(R):5'- TCAACGGCATGGACATCAGC -3'
Sequencing Primer
(F):5'- AGATCTTAGGGTGACTTCTGACCC -3'
(R):5'- TCATAACTATGCCGTGCGG -3'
|
| Posted On |
2015-01-23 |
Incidental Mutation