Incidental Mutation 'IGL01407:Treml4'
| ID |
79837 |
| 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 # |
IGL01407
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
17 |
| Chromosomal Location |
48571323-48582388 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 48571877 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Glutamic Acid
at position 93
(D93E)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000054121
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000059873]
[ENSMUST00000125426]
[ENSMUST00000136272]
[ENSMUST00000153420]
[ENSMUST00000154335]
|
| AlphaFold |
Q3LRV9 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000059873
AA Change: D93E
PolyPhen 2
Score 0.817 (Sensitivity: 0.84; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000054121
Gene: ENSMUSG00000051682
AA Change: D93E
| 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 benign
Transcript: ENSMUST00000125426
AA Change: D89E
PolyPhen 2
Score 0.406 (Sensitivity: 0.89; Specificity: 0.90)
|
| SMART Domains |
Protein: ENSMUSP00000119177
Gene: ENSMUSG00000051682
AA Change: D89E
| 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 benign
Transcript: ENSMUST00000136272
AA Change: D93E
PolyPhen 2
Score 0.184 (Sensitivity: 0.92; Specificity: 0.87)
|
| SMART Domains |
Protein: ENSMUSP00000120550
Gene: ENSMUSG00000051682
AA Change: D93E
| 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 |
possibly damaging
Transcript: ENSMUST00000153420
AA Change: D93E
PolyPhen 2
Score 0.461 (Sensitivity: 0.89; Specificity: 0.90)
|
| SMART Domains |
Protein: ENSMUSP00000115290
Gene: ENSMUSG00000051682
AA Change: D93E
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
7 |
18 |
N/A |
INTRINSIC |
|
IG
|
32 |
137 |
6.51e-3 |
SMART |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000154335
AA Change: D93E
PolyPhen 2
Score 0.461 (Sensitivity: 0.89; Specificity: 0.90)
|
| SMART Domains |
Protein: ENSMUSP00000118772
Gene: ENSMUSG00000051682
AA Change: D93E
| 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: 36 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abcb11 |
T |
A |
2: 69,076,288 (GRCm39) |
D1140V |
probably damaging |
Het |
| Ak1 |
G |
T |
2: 32,523,507 (GRCm39) |
|
probably benign |
Het |
| Ano1 |
A |
T |
7: 144,190,848 (GRCm39) |
L411H |
probably benign |
Het |
| Atad2 |
A |
T |
15: 57,967,921 (GRCm39) |
N569K |
probably benign |
Het |
| Bst2 |
C |
A |
8: 71,989,830 (GRCm39) |
R81L |
probably damaging |
Het |
| Cd4 |
G |
A |
6: 124,856,341 (GRCm39) |
T50I |
probably benign |
Het |
| Chrna5 |
C |
T |
9: 54,911,683 (GRCm39) |
T57M |
possibly damaging |
Het |
| Cp |
A |
T |
3: 20,031,369 (GRCm39) |
D602V |
possibly damaging |
Het |
| Drd2 |
T |
C |
9: 49,312,115 (GRCm39) |
I156T |
probably damaging |
Het |
| Elp4 |
G |
A |
2: 105,622,653 (GRCm39) |
R349W |
probably damaging |
Het |
| Eml6 |
G |
A |
11: 29,705,021 (GRCm39) |
R1508* |
probably null |
Het |
| Etl4 |
T |
C |
2: 20,748,667 (GRCm39) |
L335S |
probably damaging |
Het |
| Fat3 |
A |
T |
9: 16,289,319 (GRCm39) |
I68K |
probably benign |
Het |
| Fyco1 |
G |
T |
9: 123,657,944 (GRCm39) |
A744D |
probably damaging |
Het |
| Gm22165 |
G |
T |
3: 64,012,886 (GRCm39) |
|
probably benign |
Het |
| Gse1 |
T |
C |
8: 121,280,326 (GRCm39) |
M1T |
probably null |
Het |
| Hs3st5 |
A |
T |
10: 36,709,404 (GRCm39) |
H313L |
probably damaging |
Het |
| Hsd17b3 |
T |
C |
13: 64,210,719 (GRCm39) |
Y212C |
probably damaging |
Het |
| Hyal5 |
G |
T |
6: 24,876,406 (GRCm39) |
S93I |
probably benign |
Het |
| Itgb1 |
T |
C |
8: 129,449,315 (GRCm39) |
V578A |
probably benign |
Het |
| Klf12 |
A |
T |
14: 100,347,294 (GRCm39) |
N12K |
possibly damaging |
Het |
| Krt40 |
C |
T |
11: 99,432,045 (GRCm39) |
C222Y |
probably damaging |
Het |
| Lrrn2 |
T |
C |
1: 132,864,965 (GRCm39) |
L10P |
probably damaging |
Het |
| Lrsam1 |
T |
C |
2: 32,837,915 (GRCm39) |
Y213C |
probably damaging |
Het |
| Mitf |
C |
A |
6: 97,994,892 (GRCm39) |
T277K |
possibly damaging |
Het |
| Ncan |
C |
T |
8: 70,554,607 (GRCm39) |
R1070H |
probably benign |
Het |
| Nr4a3 |
A |
G |
4: 48,083,201 (GRCm39) |
E578G |
probably benign |
Het |
| Patj |
A |
G |
4: 98,301,287 (GRCm39) |
T191A |
possibly damaging |
Het |
| Pign |
A |
G |
1: 105,517,027 (GRCm39) |
V533A |
probably benign |
Het |
| Smad5 |
G |
A |
13: 56,883,630 (GRCm39) |
V339I |
probably benign |
Het |
| Spem2 |
T |
A |
11: 69,708,065 (GRCm39) |
Y300F |
possibly damaging |
Het |
| Trank1 |
T |
G |
9: 111,193,790 (GRCm39) |
S605A |
probably damaging |
Het |
| Tsc22d2 |
T |
A |
3: 58,323,924 (GRCm39) |
V272E |
probably damaging |
Het |
| Vmn2r19 |
T |
A |
6: 123,306,826 (GRCm39) |
F445I |
possibly damaging |
Het |
| Zfp712 |
T |
A |
13: 67,190,230 (GRCm39) |
Q99L |
possibly damaging |
Het |
| Zfp719 |
A |
T |
7: 43,233,611 (GRCm39) |
K10I |
probably benign |
Het |
|
| Other mutations in Treml4 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01451:Treml4
|
APN |
17 |
48,572,023 (GRCm39) |
splice site |
probably benign |
|
|
IGL01787:Treml4
|
APN |
17 |
48,571,732 (GRCm39) |
missense |
probably damaging |
1.00 |
|
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 |
2013-11-05 |
Incidental Mutation