Incidental Mutation 'IGL01787:Treml4'
| ID |
155096 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Treml4
|
| Ensembl Gene |
ENSMUSG00000051682 |
| Gene Name |
triggering receptor expressed on myeloid cells-like 4 |
| Synonyms |
5031403H21Rik |
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.099)
|
| Stock # |
IGL01787
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
17 |
| Chromosomal Location |
48571323-48582388 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 48571732 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Glutamic Acid
at position 45
(V45E)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000118772
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000059873]
[ENSMUST00000125426]
[ENSMUST00000136272]
[ENSMUST00000153420]
[ENSMUST00000154335]
|
| AlphaFold |
Q3LRV9 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000059873
AA Change: V45E
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000054121
Gene: ENSMUSG00000051682
AA Change: V45E
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
7 |
18 |
N/A |
INTRINSIC |
|
IG
|
32 |
137 |
6.51e-3 |
SMART |
|
transmembrane domain
|
200 |
222 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000125426
AA Change: V41E
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000119177
Gene: ENSMUSG00000051682
AA Change: V41E
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
7 |
18 |
N/A |
INTRINSIC |
|
IG
|
28 |
133 |
6.51e-3 |
SMART |
|
transmembrane domain
|
196 |
218 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000136272
AA Change: V45E
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000120550
Gene: ENSMUSG00000051682
AA Change: V45E
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
7 |
18 |
N/A |
INTRINSIC |
|
IG
|
32 |
137 |
6.51e-3 |
SMART |
|
transmembrane domain
|
192 |
214 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000153420
AA Change: V45E
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000115290
Gene: ENSMUSG00000051682
AA Change: V45E
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
7 |
18 |
N/A |
INTRINSIC |
|
IG
|
32 |
137 |
6.51e-3 |
SMART |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000154335
AA Change: V45E
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000118772
Gene: ENSMUSG00000051682
AA Change: V45E
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
28 |
N/A |
INTRINSIC |
|
IG
|
32 |
137 |
6.51e-3 |
SMART |
|
transmembrane domain
|
201 |
223 |
N/A |
INTRINSIC |
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| MGI Phenotype |
PHENOTYPE: Mice homozygous for a knock-out allele do not exhibit any significant alterations in the uptake and cross-presentation of dying cells. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 22 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Ahctf1 |
A |
G |
1: 179,580,887 (GRCm39) |
S1772P |
probably benign |
Het |
| Cstdc3 |
T |
A |
16: 36,131,591 (GRCm39) |
Y34N |
probably damaging |
Het |
| Epsti1 |
T |
C |
14: 78,210,052 (GRCm39) |
|
probably null |
Het |
| Mtrr |
A |
T |
13: 68,719,266 (GRCm39) |
L325Q |
probably damaging |
Het |
| Neb |
T |
C |
2: 52,186,367 (GRCm39) |
K902E |
possibly damaging |
Het |
| Nfkbie |
T |
C |
17: 45,867,189 (GRCm39) |
L108P |
probably damaging |
Het |
| Or2n1d |
T |
A |
17: 38,646,470 (GRCm39) |
C141S |
probably damaging |
Het |
| Or4c52 |
A |
T |
2: 89,845,655 (GRCm39) |
Y127F |
probably damaging |
Het |
| Pcdh15 |
A |
G |
10: 74,286,115 (GRCm39) |
D712G |
probably benign |
Het |
| Polr3k |
T |
C |
2: 181,506,251 (GRCm39) |
|
probably benign |
Het |
| Shkbp1 |
A |
C |
7: 27,041,875 (GRCm39) |
F660V |
possibly damaging |
Het |
| Smchd1 |
T |
C |
17: 71,698,413 (GRCm39) |
D1121G |
probably damaging |
Het |
| Srgap3 |
A |
T |
6: 112,699,983 (GRCm39) |
D998E |
probably benign |
Het |
| Stab1 |
T |
C |
14: 30,861,765 (GRCm39) |
D14G |
probably damaging |
Het |
| Tap1 |
T |
C |
17: 34,415,578 (GRCm39) |
S641P |
probably benign |
Het |
| Tgm3 |
C |
T |
2: 129,889,660 (GRCm39) |
S618F |
possibly damaging |
Het |
| Tgm6 |
T |
C |
2: 129,993,354 (GRCm39) |
|
probably benign |
Het |
| Tmco5 |
A |
T |
2: 116,717,781 (GRCm39) |
E194D |
probably damaging |
Het |
| Uggt2 |
A |
T |
14: 119,319,146 (GRCm39) |
M292K |
probably damaging |
Het |
| Usp5 |
A |
T |
6: 124,801,189 (GRCm39) |
D179E |
possibly damaging |
Het |
| Ythdf1 |
A |
G |
2: 180,553,486 (GRCm39) |
L216P |
probably damaging |
Het |
| Zfp948 |
C |
T |
17: 21,807,333 (GRCm39) |
A175V |
probably benign |
Het |
|
| Other mutations in Treml4 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01407:Treml4
|
APN |
17 |
48,571,877 (GRCm39) |
missense |
possibly damaging |
0.82 |
|
IGL01451:Treml4
|
APN |
17 |
48,572,023 (GRCm39) |
splice site |
probably benign |
|
|
R0027:Treml4
|
UTSW |
17 |
48,571,962 (GRCm39) |
missense |
possibly damaging |
0.82 |
|
R1975:Treml4
|
UTSW |
17 |
48,579,821 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4013:Treml4
|
UTSW |
17 |
48,571,837 (GRCm39) |
missense |
probably benign |
0.09 |
|
R4327:Treml4
|
UTSW |
17 |
48,581,417 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R5586:Treml4
|
UTSW |
17 |
48,571,927 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6220:Treml4
|
UTSW |
17 |
48,571,876 (GRCm39) |
missense |
possibly damaging |
0.91 |
|
R6510:Treml4
|
UTSW |
17 |
48,581,472 (GRCm39) |
missense |
probably benign |
|
|
R6964:Treml4
|
UTSW |
17 |
48,579,847 (GRCm39) |
critical splice donor site |
probably null |
|
|
R8136:Treml4
|
UTSW |
17 |
48,571,745 (GRCm39) |
nonsense |
probably null |
|
|
R8289:Treml4
|
UTSW |
17 |
48,581,456 (GRCm39) |
missense |
probably benign |
0.23 |
|
R9070:Treml4
|
UTSW |
17 |
48,576,781 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9574:Treml4
|
UTSW |
17 |
48,571,672 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Posted On |
2014-02-04 |
Incidental Mutation