Incidental Mutation 'R0965:Tmem119'
| ID |
81609 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Tmem119
|
| Ensembl Gene |
ENSMUSG00000054675 |
| Gene Name |
transmembrane protein 119 |
| Synonyms |
obif |
| MMRRC Submission |
039094-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R0965 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
5 |
| Chromosomal Location |
113931790-113938530 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to C
at 113933480 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Glycine
at position 107
(V107G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000070551
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000067853]
[ENSMUST00000160374]
|
| AlphaFold |
Q8R138 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000067853
AA Change: V107G
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000070551
Gene: ENSMUSG00000054675
AA Change: V107G
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
6 |
12 |
N/A |
INTRINSIC |
|
Pfam:TMEM119
|
20 |
274 |
1.8e-134 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000160374
|
| Coding Region Coverage |
- 1x: 99.4%
- 3x: 98.8%
- 10x: 97.1%
- 20x: 94.5%
|
| Validation Efficiency |
|
| MGI Phenotype |
PHENOTYPE: Mice homozygous for a targeted allele exhibit growth retardation associated with delayed endochondral bone ossification and impaired osteoblast differentiation. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 21 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adgrb2 |
AGAGGAGGAGGAGGAGGAGG |
AGAGGAGGAGGAGGAGG |
4: 129,886,209 (GRCm39) |
|
probably benign |
Het |
| Amacr |
C |
T |
15: 10,984,891 (GRCm39) |
R170C |
probably damaging |
Het |
| Bcl2 |
A |
T |
1: 106,640,021 (GRCm39) |
L197Q |
probably benign |
Het |
| Brd1 |
G |
A |
15: 88,601,231 (GRCm39) |
R468W |
probably damaging |
Het |
| Esco1 |
A |
G |
18: 10,567,570 (GRCm39) |
F821L |
probably damaging |
Het |
| Gtf3c3 |
C |
T |
1: 54,456,937 (GRCm39) |
A488T |
probably damaging |
Het |
| Gzma |
G |
A |
13: 113,234,868 (GRCm39) |
P38L |
probably damaging |
Het |
| Mcc |
A |
G |
18: 44,857,593 (GRCm39) |
L174P |
probably benign |
Het |
| Med19 |
A |
G |
2: 84,508,793 (GRCm39) |
E2G |
probably damaging |
Het |
| Muc5b |
C |
T |
7: 141,417,539 (GRCm39) |
T3495I |
possibly damaging |
Het |
| Nfatc4 |
T |
C |
14: 56,064,043 (GRCm39) |
S107P |
probably damaging |
Het |
| Obscn |
T |
C |
11: 59,022,472 (GRCm39) |
R758G |
possibly damaging |
Het |
| Or9g4b |
A |
G |
2: 85,616,643 (GRCm39) |
S263G |
probably damaging |
Het |
| Phf11c |
T |
A |
14: 59,618,931 (GRCm39) |
I285F |
probably damaging |
Het |
| Prkdc |
T |
C |
16: 15,647,580 (GRCm39) |
V3668A |
probably benign |
Het |
| Rbm20 |
T |
C |
19: 53,847,832 (GRCm39) |
F1126S |
probably damaging |
Het |
| Slc7a5 |
T |
C |
8: 122,633,840 (GRCm39) |
E169G |
probably benign |
Het |
| Slco1b2 |
C |
A |
6: 141,631,322 (GRCm39) |
T652K |
probably damaging |
Het |
| Sned1 |
G |
A |
1: 93,209,376 (GRCm39) |
V830M |
possibly damaging |
Het |
| Ttn |
C |
A |
2: 76,629,915 (GRCm39) |
G14205V |
probably damaging |
Het |
| Zc3h11a |
T |
C |
1: 133,573,541 (GRCm39) |
N33S |
possibly damaging |
Het |
|
| Other mutations in Tmem119 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01520:Tmem119
|
APN |
5 |
113,933,546 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01645:Tmem119
|
APN |
5 |
113,933,409 (GRCm39) |
nonsense |
probably null |
|
|
IGL02833:Tmem119
|
APN |
5 |
113,933,432 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL03161:Tmem119
|
APN |
5 |
113,932,961 (GRCm39) |
missense |
possibly damaging |
0.80 |
|
R4168:Tmem119
|
UTSW |
5 |
113,933,048 (GRCm39) |
missense |
probably benign |
0.15 |
|
R4923:Tmem119
|
UTSW |
5 |
113,933,405 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5207:Tmem119
|
UTSW |
5 |
113,933,289 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9516:Tmem119
|
UTSW |
5 |
113,933,267 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9538:Tmem119
|
UTSW |
5 |
113,933,702 (GRCm39) |
missense |
possibly damaging |
0.76 |
|
R9779:Tmem119
|
UTSW |
5 |
113,933,204 (GRCm39) |
missense |
possibly damaging |
0.52 |
|
| Predicted Primers |
PCR Primer
(F):5'- AGGAGAAAGACCCTTCTGCTTCCC -3'
(R):5'- TAGCTCAACATGGTCCCCTGGTTC -3'
Sequencing Primer
(F):5'- AGCCAGAATGTCAGCCTG -3'
(R):5'- CCTCCTTCCTGGAGGATGTAG -3'
|
| Posted On |
2013-11-08 |
Incidental Mutation