Incidental Mutation 'IGL00509:Siglech'
| ID |
14018 |
| 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 # |
IGL00509
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
7 |
| Chromosomal Location |
55417926-55428673 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 55418635 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Valine
at position 146
(D146V)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000130632
(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
AA Change: D146V
PolyPhen 2
Score 0.086 (Sensitivity: 0.93; Specificity: 0.85)
|
| SMART Domains |
Protein: ENSMUSP00000058875
Gene: ENSMUSG00000051504
AA Change: D146V
| 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
AA Change: D146V
PolyPhen 2
Score 0.052 (Sensitivity: 0.94; Specificity: 0.83)
|
| SMART Domains |
Protein: ENSMUSP00000091920
Gene: ENSMUSG00000051504
AA Change: D146V
| 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 |
possibly damaging
Transcript: ENSMUST00000165045
AA Change: D146V
PolyPhen 2
Score 0.473 (Sensitivity: 0.89; Specificity: 0.90)
|
| SMART Domains |
Protein: ENSMUSP00000130632
Gene: ENSMUSG00000051504
AA Change: D146V
| 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
AA Change: D146V
PolyPhen 2
Score 0.086 (Sensitivity: 0.93; Specificity: 0.85)
|
| SMART Domains |
Protein: ENSMUSP00000130943
Gene: ENSMUSG00000051504
AA Change: D146V
| 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: 34 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| A930011G23Rik |
T |
C |
5: 99,391,102 (GRCm39) |
|
probably null |
Het |
| Abr |
A |
G |
11: 76,313,915 (GRCm39) |
L514P |
probably damaging |
Het |
| Ahnak |
T |
A |
19: 8,987,315 (GRCm39) |
D2866E |
possibly damaging |
Het |
| Bfsp1 |
T |
A |
2: 143,673,812 (GRCm39) |
T293S |
probably damaging |
Het |
| Ccr1 |
C |
T |
9: 123,764,090 (GRCm39) |
V147I |
probably benign |
Het |
| Cd84 |
T |
C |
1: 171,679,704 (GRCm39) |
|
probably null |
Het |
| Cep192 |
T |
C |
18: 67,991,939 (GRCm39) |
V1939A |
possibly damaging |
Het |
| Chrnb4 |
A |
T |
9: 54,943,878 (GRCm39) |
L80Q |
probably damaging |
Het |
| Ckmt2 |
A |
T |
13: 92,011,382 (GRCm39) |
L76H |
probably damaging |
Het |
| Cntnap2 |
C |
T |
6: 45,992,197 (GRCm39) |
P375S |
possibly damaging |
Het |
| Cped1 |
A |
T |
6: 22,215,522 (GRCm39) |
L685F |
probably damaging |
Het |
| Dab2ip |
T |
C |
2: 35,610,025 (GRCm39) |
S682P |
probably damaging |
Het |
| Dclk1 |
A |
T |
3: 55,154,707 (GRCm39) |
T46S |
probably damaging |
Het |
| Eif2d |
T |
A |
1: 131,094,089 (GRCm39) |
C427S |
probably benign |
Het |
| Fat4 |
T |
A |
3: 38,943,188 (GRCm39) |
Y694N |
probably damaging |
Het |
| Gm15217 |
T |
C |
14: 46,620,768 (GRCm39) |
|
probably benign |
Het |
| Gpr35 |
T |
C |
1: 92,910,594 (GRCm39) |
I102T |
probably damaging |
Het |
| Grk4 |
T |
A |
5: 34,873,634 (GRCm39) |
N233K |
probably damaging |
Het |
| Hdac3 |
T |
C |
18: 38,087,938 (GRCm39) |
D10G |
possibly damaging |
Het |
| Hexb |
G |
A |
13: 97,318,437 (GRCm39) |
T308M |
probably damaging |
Het |
| Inpp5j |
C |
A |
11: 3,451,595 (GRCm39) |
D436Y |
possibly damaging |
Het |
| Kif18a |
A |
G |
2: 109,148,333 (GRCm39) |
E609G |
possibly damaging |
Het |
| Kif24 |
T |
C |
4: 41,413,826 (GRCm39) |
|
probably null |
Het |
| Lrp4 |
G |
A |
2: 91,316,519 (GRCm39) |
|
probably benign |
Het |
| Mat2b |
T |
C |
11: 40,575,554 (GRCm39) |
K161E |
possibly damaging |
Het |
| Nek2 |
T |
G |
1: 191,559,490 (GRCm39) |
|
probably benign |
Het |
| Numa1 |
A |
G |
7: 101,662,493 (GRCm39) |
T1965A |
possibly damaging |
Het |
| Oca2 |
G |
A |
7: 55,930,594 (GRCm39) |
G137D |
probably damaging |
Het |
| Pdcl2 |
T |
A |
5: 76,472,959 (GRCm39) |
D3V |
probably damaging |
Het |
| Ranbp17 |
T |
C |
11: 33,443,402 (GRCm39) |
N91S |
probably benign |
Het |
| Slc4a3 |
C |
T |
1: 75,531,727 (GRCm39) |
T898M |
probably damaging |
Het |
| Sp3 |
A |
G |
2: 72,768,406 (GRCm39) |
|
probably benign |
Het |
| Tln1 |
C |
T |
4: 43,542,719 (GRCm39) |
V1396I |
probably benign |
Het |
| Ugt2a3 |
T |
A |
5: 87,473,514 (GRCm39) |
M468L |
probably damaging |
Het |
|
| Other mutations in Siglech |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00162:Siglech
|
APN |
7 |
55,422,339 (GRCm39) |
splice site |
probably benign |
|
|
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 |
2012-12-06 |
Incidental Mutation