Incidental Mutation 'R1185:Timd4'
ID |
165260 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Timd4
|
Ensembl Gene |
ENSMUSG00000055546 |
Gene Name |
T cell immunoglobulin and mucin domain containing 4 |
Synonyms |
Tim4, B430010N18Rik, TIM-4 |
MMRRC Submission |
039257-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.072)
|
Stock # |
R1185 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
11 |
Chromosomal Location |
46701627-46735159 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
C to A
at 46708475 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Threonine to Lysine
at position 167
(T167K)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000069456
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000068877]
|
AlphaFold |
Q6U7R4 |
PDB Structure |
Tim-4 [X-RAY DIFFRACTION]
Tim-4 in complex with sodium potassium tartrate [X-RAY DIFFRACTION]
Tim-4 in complex with phosphatidylserine [X-RAY DIFFRACTION]
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000068877
AA Change: T167K
PolyPhen 2
Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)
|
SMART Domains |
Protein: ENSMUSP00000069456 Gene: ENSMUSG00000055546 AA Change: T167K
Domain | Start | End | E-Value | Type |
low complexity region
|
5 |
19 |
N/A |
INTRINSIC |
IG
|
25 |
132 |
3.59e-5 |
SMART |
low complexity region
|
135 |
182 |
N/A |
INTRINSIC |
low complexity region
|
248 |
271 |
N/A |
INTRINSIC |
transmembrane domain
|
279 |
301 |
N/A |
INTRINSIC |
|
Meta Mutation Damage Score |
0.1747 |
Coding Region Coverage |
- 1x: 99.6%
- 3x: 98.3%
- 10x: 93.0%
- 20x: 79.2%
|
Validation Efficiency |
|
MGI Phenotype |
PHENOTYPE: Mice homozygous for a knock-out allele exhibit impaired macrophage phagocytosis, altered macrophage physiology, and increased peritoneal lymphoid and meyloid cell numbers. [provided by MGI curators]
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 40 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Ac165356.1 |
C |
T |
7: 105,682,686 (GRCm39) |
A190T |
probably benign |
Het |
Aimp2 |
A |
G |
5: 143,841,509 (GRCm39) |
S110P |
possibly damaging |
Het |
Akap9 |
A |
G |
5: 3,998,783 (GRCm39) |
T51A |
probably benign |
Het |
Arhgef25 |
A |
G |
10: 127,019,650 (GRCm39) |
F430L |
possibly damaging |
Het |
Brap |
T |
C |
5: 121,813,342 (GRCm39) |
V235A |
probably damaging |
Het |
Cd69 |
C |
T |
6: 129,247,148 (GRCm39) |
G23D |
probably damaging |
Het |
Cecr2 |
C |
T |
6: 120,735,166 (GRCm39) |
R24* |
probably null |
Het |
Celsr2 |
T |
C |
3: 108,307,025 (GRCm39) |
D1974G |
possibly damaging |
Het |
Cps1 |
A |
G |
1: 67,234,358 (GRCm39) |
K915R |
probably benign |
Het |
Csmd1 |
T |
C |
8: 16,408,362 (GRCm39) |
D401G |
probably damaging |
Het |
Dusp13b |
A |
G |
14: 21,785,086 (GRCm39) |
F141S |
probably damaging |
Het |
Eif1ad19 |
A |
G |
12: 87,740,478 (GRCm39) |
V27A |
probably benign |
Het |
Fam162b |
A |
G |
10: 51,466,439 (GRCm39) |
W27R |
probably benign |
Het |
Focad |
A |
G |
4: 88,096,424 (GRCm39) |
T269A |
probably benign |
Het |
Ghr |
T |
A |
15: 3,357,544 (GRCm39) |
R241S |
possibly damaging |
Het |
Hirip3 |
AAGAG |
AAG |
7: 126,462,832 (GRCm39) |
|
probably null |
Het |
Itgb2l |
A |
G |
16: 96,230,240 (GRCm39) |
Y357H |
possibly damaging |
Het |
Jrkl |
T |
C |
9: 13,244,938 (GRCm39) |
D241G |
possibly damaging |
Het |
Lmod1 |
A |
G |
1: 135,291,967 (GRCm39) |
D274G |
probably benign |
Het |
Lrrn2 |
A |
G |
1: 132,866,959 (GRCm39) |
S675G |
probably benign |
Het |
Ltbp4 |
G |
C |
7: 27,009,960 (GRCm39) |
P1200R |
probably damaging |
Het |
Mdn1 |
T |
C |
4: 32,735,576 (GRCm39) |
L3414P |
possibly damaging |
Het |
Muc19 |
A |
G |
15: 91,762,743 (GRCm39) |
|
noncoding transcript |
Het |
Neb |
A |
G |
2: 52,186,310 (GRCm39) |
Y921H |
probably damaging |
Het |
Or2n1c |
T |
A |
17: 38,520,074 (GRCm39) |
*313R |
probably null |
Het |
Pgap3 |
T |
C |
11: 98,281,960 (GRCm39) |
D117G |
probably damaging |
Het |
Ppp1r9b |
T |
C |
11: 94,892,812 (GRCm39) |
F671L |
possibly damaging |
Het |
Purg |
T |
G |
8: 33,876,897 (GRCm39) |
Y178* |
probably null |
Het |
Rsph10b |
G |
A |
5: 143,903,280 (GRCm39) |
|
probably benign |
Het |
Sorbs1 |
T |
A |
19: 40,371,050 (GRCm39) |
D79V |
probably damaging |
Het |
Tcaf3 |
T |
C |
6: 42,568,368 (GRCm39) |
T663A |
probably damaging |
Het |
Tjp2 |
A |
G |
19: 24,108,527 (GRCm39) |
L195P |
possibly damaging |
Het |
Tnr |
G |
A |
1: 159,679,856 (GRCm39) |
A277T |
probably benign |
Het |
Trpm3 |
G |
A |
19: 22,891,781 (GRCm39) |
|
probably benign |
Het |
Unc13a |
C |
T |
8: 72,114,477 (GRCm39) |
G181D |
probably benign |
Het |
Vmn1r11 |
T |
A |
6: 57,114,492 (GRCm39) |
L52Q |
possibly damaging |
Het |
Vmn2r125 |
C |
A |
4: 156,703,396 (GRCm39) |
A258D |
probably benign |
Het |
Zfp27 |
T |
C |
7: 29,595,254 (GRCm39) |
D237G |
possibly damaging |
Het |
Zfp39 |
T |
C |
11: 58,793,670 (GRCm39) |
T23A |
possibly damaging |
Het |
Zfp459 |
T |
G |
13: 67,556,600 (GRCm39) |
N161T |
probably benign |
Het |
|
Other mutations in Timd4 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL02140:Timd4
|
APN |
11 |
46,710,841 (GRCm39) |
missense |
possibly damaging |
0.61 |
IGL02247:Timd4
|
APN |
11 |
46,706,558 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02803:Timd4
|
APN |
11 |
46,706,521 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02991:Timd4
|
APN |
11 |
46,732,974 (GRCm39) |
splice site |
probably benign |
|
R0318:Timd4
|
UTSW |
11 |
46,727,898 (GRCm39) |
missense |
probably benign |
0.00 |
R0427:Timd4
|
UTSW |
11 |
46,710,084 (GRCm39) |
missense |
probably benign |
0.00 |
R1175:Timd4
|
UTSW |
11 |
46,708,498 (GRCm39) |
missense |
probably damaging |
1.00 |
R1185:Timd4
|
UTSW |
11 |
46,708,475 (GRCm39) |
missense |
probably damaging |
0.99 |
R1185:Timd4
|
UTSW |
11 |
46,708,475 (GRCm39) |
missense |
probably damaging |
0.99 |
R1635:Timd4
|
UTSW |
11 |
46,732,989 (GRCm39) |
missense |
possibly damaging |
0.92 |
R2011:Timd4
|
UTSW |
11 |
46,710,857 (GRCm39) |
missense |
possibly damaging |
0.79 |
R2012:Timd4
|
UTSW |
11 |
46,710,857 (GRCm39) |
missense |
possibly damaging |
0.79 |
R4994:Timd4
|
UTSW |
11 |
46,706,344 (GRCm39) |
missense |
probably damaging |
0.99 |
R5511:Timd4
|
UTSW |
11 |
46,710,807 (GRCm39) |
splice site |
probably null |
|
R5739:Timd4
|
UTSW |
11 |
46,708,573 (GRCm39) |
missense |
probably benign |
0.10 |
R5991:Timd4
|
UTSW |
11 |
46,734,030 (GRCm39) |
makesense |
probably null |
|
R6207:Timd4
|
UTSW |
11 |
46,706,353 (GRCm39) |
missense |
probably damaging |
0.98 |
R6863:Timd4
|
UTSW |
11 |
46,706,270 (GRCm39) |
nonsense |
probably null |
|
R7230:Timd4
|
UTSW |
11 |
46,701,691 (GRCm39) |
missense |
probably benign |
0.01 |
R7254:Timd4
|
UTSW |
11 |
46,734,016 (GRCm39) |
missense |
probably benign |
0.04 |
R7466:Timd4
|
UTSW |
11 |
46,708,585 (GRCm39) |
missense |
probably benign |
0.01 |
R7750:Timd4
|
UTSW |
11 |
46,706,354 (GRCm39) |
missense |
probably damaging |
1.00 |
R8777:Timd4
|
UTSW |
11 |
46,706,309 (GRCm39) |
missense |
possibly damaging |
0.49 |
R8777-TAIL:Timd4
|
UTSW |
11 |
46,706,309 (GRCm39) |
missense |
possibly damaging |
0.49 |
|
Predicted Primers |
PCR Primer
(F):5'- GTGTGGTGAACAATTCAGGCCAATG -3'
(R):5'- ACTCCTCAGAGGTCAAGTGGAGAAC -3'
Sequencing Primer
(F):5'- TTCAGGCCAATGAACCAAGAG -3'
(R):5'- TTGCCCACTGTAGAAGAGTC -3'
|
Posted On |
2014-03-28 |