Incidental Mutation 'IGL01897:Lat2'
| ID |
179446 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Lat2
|
| Ensembl Gene |
ENSMUSG00000040751 |
| Gene Name |
linker for activation of T cells family, member 2 |
| Synonyms |
Wbscr5, Wbscr15 |
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.050)
|
| Stock # |
IGL01897
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
5 |
| Chromosomal Location |
134628876-134643879 bp(-) (GRCm39) |
| Type of Mutation |
splice site |
| DNA Base Change (assembly) |
A to G
at 134635481 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000144611
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000023867]
[ENSMUST00000036362]
[ENSMUST00000077636]
[ENSMUST00000200737]
[ENSMUST00000200998]
[ENSMUST00000202085]
|
| AlphaFold |
Q9JHL0 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000023867
|
| SMART Domains |
Protein: ENSMUSP00000023867
Gene: ENSMUSG00000023104
| Domain | Start | End | E-Value | Type |
|---|
|
AAA
|
63 |
189 |
9.42e-13 |
SMART |
|
Pfam:Rep_fac_C
|
253 |
338 |
3.1e-19 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000036362
|
| SMART Domains |
Protein: ENSMUSP00000046900
Gene: ENSMUSG00000040751
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
4 |
25 |
N/A |
INTRINSIC |
|
Pfam:LAT2
|
29 |
197 |
6.6e-82 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000077636
|
| SMART Domains |
Protein: ENSMUSP00000076824
Gene: ENSMUSG00000040751
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
29 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000200737
|
| SMART Domains |
Protein: ENSMUSP00000143998
Gene: ENSMUSG00000040751
| Domain | Start | End | E-Value | Type |
|---|
|
transmembrane domain
|
5 |
27 |
N/A |
INTRINSIC |
|
Pfam:LAT2
|
29 |
114 |
9.5e-22 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000200945
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000200998
|
| SMART Domains |
Protein: ENSMUSP00000143977
Gene: ENSMUSG00000040751
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
4 |
25 |
N/A |
INTRINSIC |
|
Pfam:LAT2
|
29 |
197 |
6.6e-82 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000201632
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000202085
|
| SMART Domains |
Protein: ENSMUSP00000144611
Gene: ENSMUSG00000040751
| Domain | Start | End | E-Value | Type |
|---|
|
transmembrane domain
|
5 |
27 |
N/A |
INTRINSIC |
|
Pfam:LAT2
|
29 |
116 |
7.5e-29 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000202461
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000201832
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000202746
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene is one of the contiguous genes at 7q11.23 commonly deleted in Williams syndrome, a multisystem developmental disorder. This gene consists of at least 14 exons, and its alternative splicing generates 3 transcript variants, all encoding the same protein. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for a null allele have abnormal mast cell physiology and increased anti-nuclear antigen antibody level. Mice homozygous for another null allele show abnormal mast cell physiology, hyperactivated T cells, higher cytokine production, spleenhyperplasia and increased autoantibody level. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 34 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Actr3 |
A |
G |
1: 125,346,025 (GRCm39) |
Y21H |
possibly damaging |
Het |
| Adamts15 |
A |
T |
9: 30,813,448 (GRCm39) |
S906T |
probably damaging |
Het |
| Brat1 |
A |
G |
5: 140,703,670 (GRCm39) |
D641G |
probably benign |
Het |
| Ccdc42 |
G |
A |
11: 68,485,101 (GRCm39) |
R205H |
probably benign |
Het |
| Cdadc1 |
T |
C |
14: 59,829,986 (GRCm39) |
|
probably null |
Het |
| Cfi |
T |
C |
3: 129,652,034 (GRCm39) |
V235A |
probably damaging |
Het |
| Ctps1 |
T |
A |
4: 120,424,476 (GRCm39) |
D46V |
probably damaging |
Het |
| Cyb5d1 |
A |
T |
11: 69,284,587 (GRCm39) |
D188E |
probably benign |
Het |
| Cyp19a1 |
G |
T |
9: 54,075,813 (GRCm39) |
T414N |
probably benign |
Het |
| Cyp2c40 |
A |
T |
19: 39,792,217 (GRCm39) |
C242* |
probably null |
Het |
| Eif3b |
A |
T |
5: 140,411,202 (GRCm39) |
T218S |
possibly damaging |
Het |
| Fasn |
A |
T |
11: 120,698,765 (GRCm39) |
L2475Q |
probably damaging |
Het |
| Gm10717 |
C |
T |
9: 3,025,616 (GRCm39) |
S67L |
probably benign |
Het |
| Gm10718 |
A |
T |
9: 3,025,118 (GRCm39) |
Y194F |
probably benign |
Het |
| Heyl |
A |
T |
4: 123,140,400 (GRCm39) |
I320F |
probably damaging |
Het |
| Itpr3 |
T |
A |
17: 27,330,236 (GRCm39) |
V1618E |
probably damaging |
Het |
| Kif7 |
A |
T |
7: 79,350,800 (GRCm39) |
I1007N |
probably damaging |
Het |
| Lipm |
A |
T |
19: 34,098,708 (GRCm39) |
D394V |
probably damaging |
Het |
| Lmbrd1 |
T |
A |
1: 24,782,977 (GRCm39) |
I307K |
possibly damaging |
Het |
| Mief1 |
T |
C |
15: 80,132,709 (GRCm39) |
|
probably benign |
Het |
| Mta2 |
C |
T |
19: 8,925,130 (GRCm39) |
Q333* |
probably null |
Het |
| Neb |
T |
A |
2: 52,170,587 (GRCm39) |
E1695V |
possibly damaging |
Het |
| Npc1l1 |
A |
T |
11: 6,177,879 (GRCm39) |
N510K |
probably benign |
Het |
| Or5af1 |
T |
C |
11: 58,722,465 (GRCm39) |
F162L |
probably damaging |
Het |
| P2rx3 |
A |
C |
2: 84,853,825 (GRCm39) |
|
probably benign |
Het |
| Pdgfc |
A |
G |
3: 81,111,639 (GRCm39) |
E198G |
possibly damaging |
Het |
| Pkdcc |
T |
A |
17: 83,527,548 (GRCm39) |
I242N |
probably damaging |
Het |
| Pkn3 |
C |
T |
2: 29,972,824 (GRCm39) |
|
probably benign |
Het |
| Rcan2 |
T |
G |
17: 44,147,325 (GRCm39) |
D54E |
probably damaging |
Het |
| Tmeff2 |
T |
A |
1: 51,171,369 (GRCm39) |
Y202N |
probably damaging |
Het |
| Unc13c |
A |
G |
9: 73,453,309 (GRCm39) |
L1827P |
probably damaging |
Het |
| Vmn2r129 |
C |
T |
4: 156,690,549 (GRCm39) |
|
noncoding transcript |
Het |
| Wfdc15a |
G |
T |
2: 164,041,896 (GRCm39) |
Q21K |
probably benign |
Het |
| Zfp951 |
C |
A |
5: 104,963,149 (GRCm39) |
S139I |
probably benign |
Het |
|
| Other mutations in Lat2 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00482:Lat2
|
APN |
5 |
134,635,630 (GRCm39) |
critical splice donor site |
probably null |
|
|
IGL02869:Lat2
|
APN |
5 |
134,637,027 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL03018:Lat2
|
APN |
5 |
134,631,445 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R0735:Lat2
|
UTSW |
5 |
134,635,637 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1739:Lat2
|
UTSW |
5 |
134,635,223 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
R2257:Lat2
|
UTSW |
5 |
134,631,481 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2866:Lat2
|
UTSW |
5 |
134,634,798 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R4675:Lat2
|
UTSW |
5 |
134,634,911 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R5008:Lat2
|
UTSW |
5 |
134,631,991 (GRCm39) |
missense |
probably benign |
0.02 |
|
R6014:Lat2
|
UTSW |
5 |
134,632,308 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6422:Lat2
|
UTSW |
5 |
134,632,015 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7330:Lat2
|
UTSW |
5 |
134,635,641 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R7512:Lat2
|
UTSW |
5 |
134,634,798 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R8811:Lat2
|
UTSW |
5 |
134,635,553 (GRCm39) |
intron |
probably benign |
|
|
| Posted On |
2014-05-07 |
Incidental Mutation