Incidental Mutation 'IGL00162:Siglech'
| ID |
306583 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Siglech
|
| Ensembl Gene |
ENSMUSG00000051504 |
| Gene Name |
sialic acid binding Ig-like lectin H |
| Synonyms |
Siglec-H, 6430529G09Rik |
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
IGL00162
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
7 |
| Chromosomal Location |
55417926-55428673 bp(+) (GRCm39) |
| Type of Mutation |
splice site |
| DNA Base Change (assembly) |
T to C
at 55422339 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000134721
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000060416]
[ENSMUST00000094360]
[ENSMUST00000121492]
[ENSMUST00000154933]
[ENSMUST00000165045]
[ENSMUST00000171077]
[ENSMUST00000172988]
[ENSMUST00000173835]
|
| AlphaFold |
B7ZMQ6 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000060416
|
| SMART Domains |
Protein: ENSMUSP00000058875
Gene: ENSMUSG00000051504
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
18 |
N/A |
INTRINSIC |
|
IG
|
38 |
141 |
1.28e-1 |
SMART |
|
IG_like
|
154 |
238 |
5.13e0 |
SMART |
|
transmembrane domain
|
264 |
286 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000094360
|
| SMART Domains |
Protein: ENSMUSP00000091920
Gene: ENSMUSG00000051504
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
18 |
N/A |
INTRINSIC |
|
IG
|
38 |
141 |
1.28e-1 |
SMART |
|
IG_like
|
154 |
238 |
5.13e0 |
SMART |
|
transmembrane domain
|
248 |
270 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000121492
|
| SMART Domains |
Protein: ENSMUSP00000113665
Gene: ENSMUSG00000051504
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
18 |
N/A |
INTRINSIC |
|
IG
|
38 |
141 |
1.28e-1 |
SMART |
|
transmembrane domain
|
171 |
193 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000154933
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000165045
|
| SMART Domains |
Protein: ENSMUSP00000130632
Gene: ENSMUSG00000051504
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
18 |
N/A |
INTRINSIC |
|
IG
|
38 |
141 |
1.28e-1 |
SMART |
|
IG_like
|
154 |
238 |
5.13e0 |
SMART |
|
transmembrane domain
|
263 |
285 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000171077
|
| SMART Domains |
Protein: ENSMUSP00000130943
Gene: ENSMUSG00000051504
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
18 |
N/A |
INTRINSIC |
|
IG
|
38 |
141 |
1.28e-1 |
SMART |
|
IG_like
|
154 |
238 |
5.13e0 |
SMART |
|
transmembrane domain
|
264 |
286 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000172988
|
| SMART Domains |
Protein: ENSMUSP00000134017
Gene: ENSMUSG00000051504
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
18 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000173835
|
| SMART Domains |
Protein: ENSMUSP00000134721
Gene: ENSMUSG00000051504
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
18 |
N/A |
INTRINSIC |
|
IG
|
38 |
141 |
1.28e-1 |
SMART |
|
transmembrane domain
|
171 |
193 |
N/A |
INTRINSIC |
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| MGI Phenotype |
PHENOTYPE: Mice homozygous for a knock-out allele exhibit increased T cell proliferation, increased BUN, vacuolated renal tubules, testicular atrophy and poor maturation of seminiferous tubules. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 36 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Cc2d1b |
T |
G |
4: 108,484,575 (GRCm39) |
L470R |
probably damaging |
Het |
| Cd96 |
A |
T |
16: 45,892,162 (GRCm39) |
N275K |
possibly damaging |
Het |
| Col22a1 |
A |
G |
15: 71,732,807 (GRCm39) |
|
probably null |
Het |
| Cyb561 |
T |
C |
11: 105,826,662 (GRCm39) |
H197R |
probably damaging |
Het |
| Dlgap1 |
T |
C |
17: 70,823,080 (GRCm39) |
S22P |
probably benign |
Het |
| Dnajc6 |
A |
G |
4: 101,365,286 (GRCm39) |
|
probably benign |
Het |
| Fgf6 |
A |
T |
6: 127,001,048 (GRCm39) |
K185N |
possibly damaging |
Het |
| Fshr |
T |
C |
17: 89,293,619 (GRCm39) |
N353S |
probably damaging |
Het |
| Gabbr1 |
T |
A |
17: 37,359,335 (GRCm39) |
Y103* |
probably null |
Het |
| Gm7247 |
G |
A |
14: 51,760,962 (GRCm39) |
C177Y |
possibly damaging |
Het |
| Hikeshi |
A |
G |
7: 89,584,989 (GRCm39) |
F72L |
probably damaging |
Het |
| Ikzf4 |
T |
C |
10: 128,470,416 (GRCm39) |
E368G |
probably benign |
Het |
| Kdm3b |
A |
G |
18: 34,942,462 (GRCm39) |
E851G |
probably benign |
Het |
| Kif3b |
A |
G |
2: 153,159,051 (GRCm39) |
D284G |
probably damaging |
Het |
| Kyat3 |
G |
A |
3: 142,440,235 (GRCm39) |
A320T |
probably benign |
Het |
| Mok |
C |
T |
12: 110,774,631 (GRCm39) |
|
probably benign |
Het |
| Mrgpra3 |
A |
G |
7: 47,239,267 (GRCm39) |
F220L |
probably benign |
Het |
| Nr4a1 |
T |
C |
15: 101,168,780 (GRCm39) |
V272A |
probably damaging |
Het |
| Or10ag58 |
A |
G |
2: 87,265,407 (GRCm39) |
H192R |
probably benign |
Het |
| Or2ag19 |
A |
G |
7: 106,444,574 (GRCm39) |
Y252C |
possibly damaging |
Het |
| Pikfyve |
T |
A |
1: 65,299,280 (GRCm39) |
|
probably null |
Het |
| Plekhn1 |
T |
G |
4: 156,307,820 (GRCm39) |
T369P |
probably damaging |
Het |
| Ptpn12 |
T |
C |
5: 21,234,848 (GRCm39) |
E45G |
probably damaging |
Het |
| Ralgps1 |
A |
T |
2: 33,027,694 (GRCm39) |
*516R |
probably null |
Het |
| Rps23rg1 |
A |
G |
8: 3,633,904 (GRCm39) |
T2A |
probably benign |
Het |
| Senp6 |
A |
G |
9: 80,023,892 (GRCm39) |
D385G |
probably damaging |
Het |
| Slit1 |
A |
G |
19: 41,639,274 (GRCm39) |
L212P |
probably damaging |
Het |
| Smchd1 |
T |
A |
17: 71,772,668 (GRCm39) |
|
probably benign |
Het |
| Snapc4 |
A |
T |
2: 26,259,324 (GRCm39) |
C609S |
probably benign |
Het |
| Strn3 |
T |
C |
12: 51,707,979 (GRCm39) |
T139A |
possibly damaging |
Het |
| Tcaf3 |
T |
C |
6: 42,570,319 (GRCm39) |
T478A |
probably benign |
Het |
| Tlr3 |
A |
G |
8: 45,853,727 (GRCm39) |
S198P |
probably damaging |
Het |
| Ttn |
C |
T |
2: 76,720,823 (GRCm39) |
|
probably benign |
Het |
| Vil1 |
G |
A |
1: 74,463,034 (GRCm39) |
E406K |
probably damaging |
Het |
| Zfp462 |
A |
G |
4: 55,011,483 (GRCm39) |
|
probably null |
Het |
| Zfyve9 |
A |
G |
4: 108,499,304 (GRCm39) |
V1338A |
possibly damaging |
Het |
|
| Other mutations in Siglech |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00509:Siglech
|
APN |
7 |
55,418,635 (GRCm39) |
missense |
possibly damaging |
0.47 |
|
R0619:Siglech
|
UTSW |
7 |
55,418,910 (GRCm39) |
missense |
probably benign |
0.44 |
|
R1746:Siglech
|
UTSW |
7 |
55,418,252 (GRCm39) |
missense |
probably benign |
0.03 |
|
R1818:Siglech
|
UTSW |
7 |
55,418,332 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2125:Siglech
|
UTSW |
7 |
55,421,434 (GRCm39) |
missense |
probably benign |
0.04 |
|
R4611:Siglech
|
UTSW |
7 |
55,421,441 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4835:Siglech
|
UTSW |
7 |
55,418,177 (GRCm39) |
nonsense |
probably null |
|
|
R5531:Siglech
|
UTSW |
7 |
55,418,413 (GRCm39) |
nonsense |
probably null |
|
|
R5694:Siglech
|
UTSW |
7 |
55,418,404 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5724:Siglech
|
UTSW |
7 |
55,418,293 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6597:Siglech
|
UTSW |
7 |
55,418,211 (GRCm39) |
missense |
probably benign |
0.01 |
|
R7881:Siglech
|
UTSW |
7 |
55,422,289 (GRCm39) |
missense |
probably benign |
0.29 |
|
R8688:Siglech
|
UTSW |
7 |
55,418,362 (GRCm39) |
missense |
probably benign |
0.06 |
|
R9056:Siglech
|
UTSW |
7 |
55,422,294 (GRCm39) |
missense |
probably benign |
0.01 |
|
R9386:Siglech
|
UTSW |
7 |
55,422,312 (GRCm39) |
missense |
probably benign |
|
|
Z1088:Siglech
|
UTSW |
7 |
55,418,742 (GRCm39) |
missense |
possibly damaging |
0.50 |
|
| Posted On |
2015-04-16 |
Incidental Mutation