Incidental Mutation 'R6425:Lgals4'
| ID |
518292 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Lgals4
|
| Ensembl Gene |
ENSMUSG00000053964 |
| Gene Name |
lectin, galactose binding, soluble 4 |
| Synonyms |
galectin-4 |
| MMRRC Submission |
044564-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R6425 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
7 |
| Chromosomal Location |
28533559-28541128 bp(+) (GRCm39) |
| Type of Mutation |
nonsense |
| DNA Base Change (assembly) |
A to T
at 28533885 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Lysine to Stop codon
at position 20
(K20*)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000146429
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000066264]
[ENSMUST00000066723]
[ENSMUST00000132376]
[ENSMUST00000208971]
[ENSMUST00000151547]
|
| AlphaFold |
Q8K419 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000066264
|
| SMART Domains |
Protein: ENSMUSP00000066092
Gene: ENSMUSG00000053898
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:ECH_1
|
61 |
321 |
7.2e-50 |
PFAM |
|
Pfam:ECH_2
|
66 |
258 |
9.6e-29 |
PFAM |
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000066723
AA Change: K20*
|
| SMART Domains |
Protein: ENSMUSP00000066461
Gene: ENSMUSG00000053964
AA Change: K20*
| Domain | Start | End | E-Value | Type |
|---|
|
GLECT
|
17 |
150 |
1.24e-59 |
SMART |
|
Gal-bind_lectin
|
23 |
149 |
1.49e-59 |
SMART |
|
low complexity region
|
151 |
162 |
N/A |
INTRINSIC |
|
GLECT
|
196 |
326 |
1.49e-53 |
SMART |
|
Gal-bind_lectin
|
202 |
326 |
2.02e-56 |
SMART |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000124017
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000125155
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000126603
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000127093
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000132376
|
| SMART Domains |
Protein: ENSMUSP00000116992
Gene: ENSMUSG00000053898
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:ECH
|
26 |
166 |
2.1e-23 |
PFAM |
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000208971
AA Change: K20*
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000154839
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000143708
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000151547
|
| SMART Domains |
Protein: ENSMUSP00000141005
Gene: ENSMUSG00000053964
| Domain | Start | End | E-Value | Type |
|---|
|
Gal-bind_lectin
|
1 |
109 |
4e-45 |
SMART |
|
GLECT
|
1 |
110 |
2.3e-38 |
SMART |
|
low complexity region
|
111 |
122 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000137834
|
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.6%
- 10x: 98.1%
- 20x: 94.5%
|
| Validation Efficiency |
100% (41/41) |
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The galectins are a family of beta-galactoside-binding proteins implicated in modulating cell-cell and cell-matrix interactions. The expression of this gene is restricted to small intestine, colon, and rectum, and it is underexpressed in colorectal cancer. [provided by RefSeq, Jul 2008]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 40 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca5 |
T |
C |
11: 110,220,058 (GRCm39) |
T3A |
possibly damaging |
Het |
| Ash1l |
A |
G |
3: 88,891,087 (GRCm39) |
T989A |
probably damaging |
Het |
| Atp6v0a2 |
T |
A |
5: 124,790,194 (GRCm39) |
L459Q |
probably damaging |
Het |
| Atp6v0a4 |
A |
T |
6: 38,027,446 (GRCm39) |
V788D |
possibly damaging |
Het |
| Auh |
G |
A |
13: 52,995,080 (GRCm39) |
R162C |
probably damaging |
Het |
| Begain |
C |
A |
12: 108,999,320 (GRCm39) |
G689C |
probably damaging |
Het |
| Brcc3dc |
A |
C |
10: 108,535,757 (GRCm39) |
M66R |
possibly damaging |
Het |
| Cd300lg |
T |
C |
11: 101,937,749 (GRCm39) |
F193S |
probably benign |
Het |
| Cenpf |
T |
G |
1: 189,392,095 (GRCm39) |
N579T |
probably benign |
Het |
| Cfap65 |
T |
C |
1: 74,966,868 (GRCm39) |
H273R |
probably benign |
Het |
| Col6a6 |
T |
C |
9: 105,576,064 (GRCm39) |
T2099A |
probably benign |
Het |
| Dock1 |
A |
G |
7: 134,765,110 (GRCm39) |
K1701E |
possibly damaging |
Het |
| Dtl |
T |
C |
1: 191,278,735 (GRCm39) |
I376V |
probably benign |
Het |
| F830045P16Rik |
C |
A |
2: 129,302,500 (GRCm39) |
C364F |
probably damaging |
Het |
| Fancl |
C |
T |
11: 26,349,680 (GRCm39) |
L63F |
probably damaging |
Het |
| Gli2 |
A |
T |
1: 118,763,624 (GRCm39) |
L1509* |
probably null |
Het |
| Glyr1 |
A |
T |
16: 4,854,350 (GRCm39) |
|
probably null |
Het |
| Igkv6-32 |
A |
T |
6: 70,051,284 (GRCm39) |
M24K |
probably damaging |
Het |
| Kif1b |
T |
C |
4: 149,277,053 (GRCm39) |
M1337V |
probably benign |
Het |
| Klhl18 |
T |
C |
9: 110,275,749 (GRCm39) |
E133G |
possibly damaging |
Het |
| Myo9b |
A |
G |
8: 71,786,272 (GRCm39) |
D646G |
probably damaging |
Het |
| Pcdhb3 |
T |
C |
18: 37,435,528 (GRCm39) |
L498P |
possibly damaging |
Het |
| Pcdhgb4 |
T |
C |
18: 37,854,640 (GRCm39) |
V345A |
possibly damaging |
Het |
| Pdc |
T |
C |
1: 150,209,123 (GRCm39) |
V202A |
probably benign |
Het |
| Pfas |
T |
C |
11: 68,881,897 (GRCm39) |
I929M |
probably benign |
Het |
| Plxna1 |
G |
T |
6: 89,311,647 (GRCm39) |
R953S |
probably benign |
Het |
| Pnpla5 |
T |
C |
15: 84,006,836 (GRCm39) |
|
probably null |
Het |
| Psmd1 |
T |
C |
1: 85,998,350 (GRCm39) |
|
probably null |
Het |
| Rbm47 |
C |
T |
5: 66,180,159 (GRCm39) |
G452S |
probably damaging |
Het |
| Reln |
G |
A |
5: 22,116,018 (GRCm39) |
Q2997* |
probably null |
Het |
| Rrn3 |
A |
G |
16: 13,629,465 (GRCm39) |
T594A |
probably benign |
Het |
| Slc25a35 |
G |
A |
11: 68,859,591 (GRCm39) |
A35T |
possibly damaging |
Het |
| Slc33a1 |
A |
G |
3: 63,871,484 (GRCm39) |
V43A |
probably benign |
Het |
| Sorcs3 |
T |
C |
19: 48,752,746 (GRCm39) |
|
probably null |
Het |
| Tbk1 |
A |
G |
10: 121,399,867 (GRCm39) |
M319T |
probably benign |
Het |
| Tmem132c |
T |
A |
5: 127,630,329 (GRCm39) |
M622K |
possibly damaging |
Het |
| Tshz1 |
A |
T |
18: 84,033,688 (GRCm39) |
F240Y |
probably damaging |
Het |
| Ube2b |
A |
T |
11: 51,882,244 (GRCm39) |
L73* |
probably null |
Het |
| Vipas39 |
A |
G |
12: 87,288,063 (GRCm39) |
V449A |
probably damaging |
Het |
| Zfp870 |
T |
C |
17: 33,102,045 (GRCm39) |
N429S |
possibly damaging |
Het |
|
| Other mutations in Lgals4 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01583:Lgals4
|
APN |
7 |
28,540,973 (GRCm39) |
missense |
probably damaging |
0.98 |
|
IGL03069:Lgals4
|
APN |
7 |
28,540,343 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL03180:Lgals4
|
APN |
7 |
28,537,053 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0131:Lgals4
|
UTSW |
7 |
28,533,657 (GRCm39) |
splice site |
probably null |
|
|
R4181:Lgals4
|
UTSW |
7 |
28,535,437 (GRCm39) |
missense |
possibly damaging |
0.87 |
|
R4981:Lgals4
|
UTSW |
7 |
28,540,701 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R6199:Lgals4
|
UTSW |
7 |
28,535,317 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6431:Lgals4
|
UTSW |
7 |
28,540,117 (GRCm39) |
|
|
|
|
R7335:Lgals4
|
UTSW |
7 |
28,540,571 (GRCm39) |
missense |
probably benign |
0.01 |
|
R7359:Lgals4
|
UTSW |
7 |
28,540,724 (GRCm39) |
missense |
probably benign |
0.30 |
|
R7522:Lgals4
|
UTSW |
7 |
28,537,117 (GRCm39) |
missense |
possibly damaging |
0.73 |
|
R7975:Lgals4
|
UTSW |
7 |
28,540,346 (GRCm39) |
missense |
probably benign |
0.00 |
|
R8318:Lgals4
|
UTSW |
7 |
28,533,940 (GRCm39) |
missense |
probably benign |
|
|
R8669:Lgals4
|
UTSW |
7 |
28,540,921 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8692:Lgals4
|
UTSW |
7 |
28,540,921 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8693:Lgals4
|
UTSW |
7 |
28,540,921 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8715:Lgals4
|
UTSW |
7 |
28,540,921 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8716:Lgals4
|
UTSW |
7 |
28,540,921 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8735:Lgals4
|
UTSW |
7 |
28,540,921 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8738:Lgals4
|
UTSW |
7 |
28,540,921 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8920:Lgals4
|
UTSW |
7 |
28,540,289 (GRCm39) |
missense |
probably benign |
|
|
Z1177:Lgals4
|
UTSW |
7 |
28,540,922 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Z1186:Lgals4
|
UTSW |
7 |
28,535,353 (GRCm39) |
missense |
probably benign |
|
|
| Predicted Primers |
PCR Primer
(F):5'- CCTTTGCTATGCTGGGCAAG -3'
(R):5'- CCATAGGCCATTTGTACTCCAC -3'
Sequencing Primer
(F):5'- ATGCTGGGCAAGTATTCTCC -3'
(R):5'- TGTGAACAATGGACTCTCAGC -3'
|
| Posted On |
2018-05-24 |
Incidental Mutation