Incidental Mutation 'IGL02742:Tmem219'
| ID |
305945 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Tmem219
|
| Ensembl Gene |
ENSMUSG00000060538 |
| Gene Name |
transmembrane protein 219 |
| Synonyms |
2900045G02Rik, 1110032O16Rik |
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.072)
|
| Stock # |
IGL02742
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
7 |
| Chromosomal Location |
126485343-126522089 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 126496220 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Leucine to Proline
at position 74
(L74P)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000116806
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000032926]
[ENSMUST00000119781]
[ENSMUST00000120007]
[ENSMUST00000121532]
[ENSMUST00000121612]
[ENSMUST00000134134]
|
| AlphaFold |
Q9D123 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000032926
AA Change: L48P
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000032926
Gene: ENSMUSG00000060538
AA Change: L48P
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:TMEM219
|
10 |
193 |
4.8e-51 |
PFAM |
|
transmembrane domain
|
205 |
227 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000119781
AA Change: L73P
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000114040
Gene: ENSMUSG00000060538
AA Change: L73P
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:TMEM219
|
35 |
218 |
6.5e-51 |
PFAM |
|
transmembrane domain
|
230 |
252 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000120007
AA Change: L80P
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000113647
Gene: ENSMUSG00000060538
AA Change: L80P
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
5 |
20 |
N/A |
INTRINSIC |
|
Pfam:TMEM219
|
42 |
119 |
1.1e-12 |
PFAM |
|
Pfam:TMEM219
|
116 |
216 |
1.6e-9 |
PFAM |
|
low complexity region
|
217 |
232 |
N/A |
INTRINSIC |
|
transmembrane domain
|
237 |
259 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000121532
AA Change: L48P
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000112485
Gene: ENSMUSG00000060538
AA Change: L48P
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:TMEM219
|
10 |
193 |
4.8e-51 |
PFAM |
|
transmembrane domain
|
205 |
227 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000121612
|
| SMART Domains |
Protein: ENSMUSP00000113260
Gene: ENSMUSG00000060538
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:TMEM219
|
1 |
122 |
1e-28 |
PFAM |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000134134
AA Change: L74P
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000116806
Gene: ENSMUSG00000060538
AA Change: L74P
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:TMEM219
|
36 |
219 |
3.3e-52 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000145307
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000175690
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000177004
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| MGI Phenotype |
PHENOTYPE: Mice homozygous for a knock-out allele exhibit attenuated IL13 responsiveness, increased susceptibility to exposure to 100% oxygen, and reduced lung metastasis of B16-F10 melanoma cells. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 33 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acad11 |
A |
G |
9: 103,972,824 (GRCm39) |
T506A |
probably damaging |
Het |
| Ankib1 |
A |
C |
5: 3,743,479 (GRCm39) |
D845E |
probably benign |
Het |
| Atxn2 |
T |
C |
5: 121,919,399 (GRCm39) |
V369A |
possibly damaging |
Het |
| Ccdc50 |
T |
A |
16: 27,225,534 (GRCm39) |
|
probably benign |
Het |
| Clec2g |
A |
G |
6: 128,957,224 (GRCm39) |
I61V |
possibly damaging |
Het |
| Col16a1 |
G |
A |
4: 129,955,172 (GRCm39) |
|
probably benign |
Het |
| Dapk2 |
A |
G |
9: 66,139,096 (GRCm39) |
Y139C |
probably damaging |
Het |
| Ecpas |
A |
G |
4: 58,840,757 (GRCm39) |
V667A |
probably damaging |
Het |
| Fnip1 |
T |
C |
11: 54,384,177 (GRCm39) |
L334P |
probably damaging |
Het |
| Igf1r |
A |
G |
7: 67,839,739 (GRCm39) |
E682G |
possibly damaging |
Het |
| Ints8 |
T |
C |
4: 11,241,627 (GRCm39) |
E272G |
possibly damaging |
Het |
| Jph2 |
G |
A |
2: 163,217,699 (GRCm39) |
P326S |
probably damaging |
Het |
| Krtap1-4 |
T |
C |
11: 99,473,940 (GRCm39) |
|
probably benign |
Het |
| Lrp5 |
A |
G |
19: 3,654,022 (GRCm39) |
I1135T |
probably damaging |
Het |
| Lrrk1 |
A |
G |
7: 65,958,439 (GRCm39) |
V320A |
probably benign |
Het |
| Myh6 |
A |
C |
14: 55,191,381 (GRCm39) |
I820S |
possibly damaging |
Het |
| Napg |
A |
T |
18: 63,119,319 (GRCm39) |
T110S |
probably damaging |
Het |
| Nova1 |
G |
A |
12: 46,767,475 (GRCm39) |
Q56* |
probably null |
Het |
| Phyhip |
A |
G |
14: 70,699,367 (GRCm39) |
|
probably null |
Het |
| Pkd2l2 |
C |
A |
18: 34,549,970 (GRCm39) |
S205* |
probably null |
Het |
| Ppp2r1a |
G |
T |
17: 21,179,265 (GRCm39) |
C101F |
probably benign |
Het |
| Serpinb3c |
G |
A |
1: 107,200,872 (GRCm39) |
R182* |
probably null |
Het |
| St18 |
A |
C |
1: 6,872,540 (GRCm39) |
|
probably benign |
Het |
| St6galnac4 |
C |
T |
2: 32,487,096 (GRCm39) |
R264C |
possibly damaging |
Het |
| Tmem168 |
T |
C |
6: 13,603,261 (GRCm39) |
Y35C |
probably benign |
Het |
| Trpc4 |
T |
A |
3: 54,206,667 (GRCm39) |
N622K |
probably damaging |
Het |
| Trpm6 |
A |
C |
19: 18,807,376 (GRCm39) |
|
probably benign |
Het |
| Ttl |
C |
A |
2: 128,908,213 (GRCm39) |
F49L |
possibly damaging |
Het |
| Tut7 |
C |
T |
13: 59,964,156 (GRCm39) |
D250N |
probably damaging |
Het |
| Vmn1r123 |
A |
T |
7: 20,896,968 (GRCm39) |
I287F |
possibly damaging |
Het |
| Vmn2r97 |
T |
G |
17: 19,149,432 (GRCm39) |
I273M |
probably damaging |
Het |
| Wdr5 |
C |
A |
2: 27,410,437 (GRCm39) |
|
probably benign |
Het |
| Zfp37 |
C |
A |
4: 62,110,548 (GRCm39) |
C172F |
possibly damaging |
Het |
|
| Other mutations in Tmem219 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01759:Tmem219
|
APN |
7 |
126,496,310 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02186:Tmem219
|
APN |
7 |
126,495,988 (GRCm39) |
missense |
probably benign |
0.02 |
|
IGL02836:Tmem219
|
APN |
7 |
126,488,121 (GRCm39) |
missense |
probably benign |
0.33 |
|
R1971:Tmem219
|
UTSW |
7 |
126,496,422 (GRCm39) |
missense |
probably benign |
0.18 |
|
R2412:Tmem219
|
UTSW |
7 |
126,495,939 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R6347:Tmem219
|
UTSW |
7 |
126,495,998 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R7078:Tmem219
|
UTSW |
7 |
126,490,975 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7095:Tmem219
|
UTSW |
7 |
126,490,928 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R7385:Tmem219
|
UTSW |
7 |
126,495,947 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R9372:Tmem219
|
UTSW |
7 |
126,496,017 (GRCm39) |
missense |
possibly damaging |
0.69 |
|
R9573:Tmem219
|
UTSW |
7 |
126,490,933 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Z1088:Tmem219
|
UTSW |
7 |
126,490,846 (GRCm39) |
missense |
possibly damaging |
0.58 |
|
| Posted On |
2015-04-16 |
Incidental Mutation