Incidental Mutation 'R5336:Tarm1'
| ID |
423523 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Tarm1
|
| Ensembl Gene |
ENSMUSG00000053338 |
| Gene Name |
T cell-interacting, activating receptor on myeloid cells 1 |
| Synonyms |
Gm9904, 9930022N03Rik |
| MMRRC Submission |
042844-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.071)
|
| Stock # |
R5336 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
7 |
| Chromosomal Location |
3535016-3551140 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 3546084 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Tyrosine to Cysteine
at position 61
(Y61C)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000069745
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000065703]
[ENSMUST00000203020]
[ENSMUST00000203821]
|
| AlphaFold |
B6A8R8 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000065703
AA Change: Y61C
PolyPhen 2
Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000069745
Gene: ENSMUSG00000053338
AA Change: Y61C
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
16 |
N/A |
INTRINSIC |
|
IG_like
|
34 |
120 |
9.45e0 |
SMART |
|
IG
|
131 |
217 |
5.28e-3 |
SMART |
|
transmembrane domain
|
256 |
278 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000203020
AA Change: Y73C
PolyPhen 2
Score 0.985 (Sensitivity: 0.74; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000145188
Gene: ENSMUSG00000053338
AA Change: Y73C
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
16 |
N/A |
INTRINSIC |
|
IG_like
|
40 |
104 |
4.6e-3 |
SMART |
|
IG_like
|
92 |
198 |
4.1e-2 |
SMART |
|
IG
|
131 |
217 |
2.2e-5 |
SMART |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000203821
AA Change: Y73C
PolyPhen 2
Score 0.987 (Sensitivity: 0.73; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000145491
Gene: ENSMUSG00000053338
AA Change: Y73C
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
16 |
N/A |
INTRINSIC |
|
IG_like
|
34 |
120 |
9.45e0 |
SMART |
|
IG
|
131 |
217 |
5.28e-3 |
SMART |
|
transmembrane domain
|
256 |
278 |
N/A |
INTRINSIC |
|
| Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.8%
- 10x: 97.5%
- 20x: 96.0%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 34 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 9330159F19Rik |
A |
T |
10: 29,100,495 (GRCm39) |
E289D |
probably damaging |
Het |
| Acyp1 |
A |
T |
12: 85,326,785 (GRCm39) |
F80I |
probably damaging |
Het |
| Anapc5 |
T |
C |
5: 122,945,400 (GRCm39) |
N226S |
probably damaging |
Het |
| Ankhd1 |
T |
A |
18: 36,779,769 (GRCm39) |
S1704T |
probably damaging |
Het |
| Btnl5-ps |
T |
C |
17: 34,711,371 (GRCm39) |
|
noncoding transcript |
Het |
| Cacna1h |
T |
C |
17: 25,611,205 (GRCm39) |
H531R |
probably damaging |
Het |
| Chpf |
C |
A |
1: 75,452,351 (GRCm39) |
A368S |
possibly damaging |
Het |
| Cntn4 |
T |
C |
6: 106,639,595 (GRCm39) |
V575A |
possibly damaging |
Het |
| Col5a3 |
A |
T |
9: 20,710,597 (GRCm39) |
F551I |
unknown |
Het |
| Ctnnd1 |
C |
T |
2: 84,447,133 (GRCm39) |
V371M |
probably damaging |
Het |
| Dcxr |
A |
G |
11: 120,618,002 (GRCm39) |
|
probably null |
Het |
| Ddost |
T |
C |
4: 138,036,741 (GRCm39) |
Y147H |
possibly damaging |
Het |
| Eif2ak2 |
A |
G |
17: 79,181,472 (GRCm39) |
F92L |
probably benign |
Het |
| Gad1-ps |
G |
A |
10: 99,281,009 (GRCm39) |
|
noncoding transcript |
Het |
| H2-T23 |
T |
A |
17: 36,342,550 (GRCm39) |
N196I |
possibly damaging |
Het |
| Ighv9-2 |
A |
C |
12: 114,072,905 (GRCm39) |
F23V |
probably benign |
Het |
| Igsf10 |
T |
C |
3: 59,227,553 (GRCm39) |
E2040G |
probably damaging |
Het |
| Mtpn |
C |
T |
6: 35,489,225 (GRCm39) |
D100N |
probably benign |
Het |
| Myh4 |
A |
G |
11: 67,150,017 (GRCm39) |
|
probably null |
Het |
| Nlrp2 |
T |
C |
7: 5,331,118 (GRCm39) |
D426G |
probably benign |
Het |
| Or1a1 |
T |
C |
11: 74,086,859 (GRCm39) |
F177L |
probably damaging |
Het |
| Otof |
T |
C |
5: 30,534,064 (GRCm39) |
D1415G |
probably benign |
Het |
| Ppig |
T |
C |
2: 69,580,568 (GRCm39) |
S701P |
unknown |
Het |
| Ptprf |
A |
G |
4: 118,092,831 (GRCm39) |
I528T |
probably damaging |
Het |
| Scara3 |
A |
G |
14: 66,168,487 (GRCm39) |
Y377H |
probably damaging |
Het |
| Slf1 |
A |
T |
13: 77,254,129 (GRCm39) |
*176R |
probably null |
Het |
| Sntb1 |
C |
G |
15: 55,506,191 (GRCm39) |
G461R |
probably damaging |
Het |
| Tle4 |
A |
G |
19: 14,432,103 (GRCm39) |
|
probably null |
Het |
| Tlr1 |
A |
T |
5: 65,083,145 (GRCm39) |
N477K |
probably damaging |
Het |
| Tns2 |
C |
T |
15: 102,019,664 (GRCm39) |
T518M |
probably damaging |
Het |
| Trim50 |
C |
T |
5: 135,396,330 (GRCm39) |
T426M |
probably damaging |
Het |
| Vmn2r85 |
T |
C |
10: 130,258,574 (GRCm39) |
I494V |
possibly damaging |
Het |
| Wdr17 |
T |
A |
8: 55,085,353 (GRCm39) |
I1257F |
probably damaging |
Het |
| Zfp874a |
T |
C |
13: 67,590,799 (GRCm39) |
H295R |
probably damaging |
Het |
|
| Other mutations in Tarm1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL03229:Tarm1
|
APN |
7 |
3,545,413 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0096:Tarm1
|
UTSW |
7 |
3,546,067 (GRCm39) |
missense |
probably benign |
0.23 |
|
R0282:Tarm1
|
UTSW |
7 |
3,546,006 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0308:Tarm1
|
UTSW |
7 |
3,545,187 (GRCm39) |
splice site |
probably benign |
|
|
R3768:Tarm1
|
UTSW |
7 |
3,546,097 (GRCm39) |
missense |
probably benign |
0.10 |
|
R4732:Tarm1
|
UTSW |
7 |
3,545,416 (GRCm39) |
nonsense |
probably null |
|
|
R4733:Tarm1
|
UTSW |
7 |
3,545,416 (GRCm39) |
nonsense |
probably null |
|
|
R4982:Tarm1
|
UTSW |
7 |
3,537,612 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6128:Tarm1
|
UTSW |
7 |
3,537,720 (GRCm39) |
missense |
probably benign |
0.04 |
|
R6746:Tarm1
|
UTSW |
7 |
3,550,978 (GRCm39) |
missense |
probably benign |
0.10 |
|
R6892:Tarm1
|
UTSW |
7 |
3,546,006 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7003:Tarm1
|
UTSW |
7 |
3,545,939 (GRCm39) |
critical splice donor site |
probably null |
|
|
R7414:Tarm1
|
UTSW |
7 |
3,545,318 (GRCm39) |
missense |
probably benign |
0.05 |
|
R8439:Tarm1
|
UTSW |
7 |
3,546,037 (GRCm39) |
missense |
possibly damaging |
0.69 |
|
R8925:Tarm1
|
UTSW |
7 |
3,537,719 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R8927:Tarm1
|
UTSW |
7 |
3,537,719 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R9608:Tarm1
|
UTSW |
7 |
3,551,062 (GRCm39) |
start gained |
probably benign |
|
|
R9687:Tarm1
|
UTSW |
7 |
3,544,457 (GRCm39) |
missense |
probably benign |
|
|
| Predicted Primers |
PCR Primer
(F):5'- CTGGAGATCCCACCATTTCAC -3'
(R):5'- AAAGCTCCGGTCTGTTTCC -3'
Sequencing Primer
(F):5'- GGAGATCCCACCATTTCACTTCCTC -3'
(R):5'- CGGTCTGTTTCCTTCCAGGG -3'
|
| Posted On |
2016-08-04 |
Incidental Mutation