Incidental Mutation 'R6347:Tmem219'
| ID |
520061 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Tmem219
|
| Ensembl Gene |
ENSMUSG00000060538 |
| Gene Name |
transmembrane protein 219 |
| Synonyms |
2900045G02Rik, 1110032O16Rik |
| MMRRC Submission |
044501-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.072)
|
| Stock # |
R6347 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
7 |
| Chromosomal Location |
126485343-126522089 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 126495998 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Asparagine to Serine
at position 119
(N119S)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000116806
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000032926]
[ENSMUST00000119781]
[ENSMUST00000120007]
[ENSMUST00000121532]
[ENSMUST00000121612]
[ENSMUST00000134134]
|
| AlphaFold |
Q9D123 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000032926
AA Change: N93S
PolyPhen 2
Score 0.814 (Sensitivity: 0.84; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000032926
Gene: ENSMUSG00000060538
AA Change: N93S
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:TMEM219
|
10 |
193 |
4.8e-51 |
PFAM |
|
transmembrane domain
|
205 |
227 |
N/A |
INTRINSIC |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000119781
AA Change: N118S
PolyPhen 2
Score 0.857 (Sensitivity: 0.83; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000114040
Gene: ENSMUSG00000060538
AA Change: N118S
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:TMEM219
|
35 |
218 |
6.5e-51 |
PFAM |
|
transmembrane domain
|
230 |
252 |
N/A |
INTRINSIC |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000120007
AA Change: N125S
PolyPhen 2
Score 0.857 (Sensitivity: 0.83; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000113647
Gene: ENSMUSG00000060538
AA Change: N125S
| 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 |
possibly damaging
Transcript: ENSMUST00000121532
AA Change: N93S
PolyPhen 2
Score 0.814 (Sensitivity: 0.84; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000112485
Gene: ENSMUSG00000060538
AA Change: N93S
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:TMEM219
|
10 |
193 |
4.8e-51 |
PFAM |
|
transmembrane domain
|
205 |
227 |
N/A |
INTRINSIC |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000121612
AA Change: N22S
PolyPhen 2
Score 0.919 (Sensitivity: 0.81; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000113260
Gene: ENSMUSG00000060538
AA Change: N22S
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:TMEM219
|
1 |
122 |
1e-28 |
PFAM |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000134134
AA Change: N119S
PolyPhen 2
Score 0.936 (Sensitivity: 0.80; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000116806
Gene: ENSMUSG00000060538
AA Change: N119S
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:TMEM219
|
36 |
219 |
3.3e-52 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000145307
|
| Predicted Effect |
unknown
Transcript: ENSMUST00000177004
AA Change: N17S
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000175690
|
| Meta Mutation Damage Score |
0.4160 |
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.6%
- 10x: 97.6%
- 20x: 92.3%
|
| Validation Efficiency |
95% (41/43) |
| 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: 40 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Atat1 |
A |
G |
17: 36,220,921 (GRCm39) |
F3L |
probably damaging |
Het |
| Atf7 |
T |
A |
15: 102,454,914 (GRCm39) |
M285L |
possibly damaging |
Het |
| Bcl7b |
T |
C |
5: 135,209,387 (GRCm39) |
S95P |
possibly damaging |
Het |
| Cald1 |
A |
C |
6: 34,741,981 (GRCm39) |
K453Q |
probably damaging |
Het |
| Cimip1 |
G |
T |
2: 173,369,708 (GRCm39) |
R74L |
possibly damaging |
Het |
| Cog4 |
A |
T |
8: 111,607,275 (GRCm39) |
I580F |
probably damaging |
Het |
| Cpq |
T |
A |
15: 33,290,332 (GRCm39) |
|
probably null |
Het |
| Csf2rb |
G |
A |
15: 78,229,752 (GRCm39) |
D440N |
probably damaging |
Het |
| Dst |
A |
G |
1: 34,218,765 (GRCm39) |
|
probably null |
Het |
| Eif2b3 |
T |
C |
4: 116,901,763 (GRCm39) |
V142A |
probably benign |
Het |
| Fat3 |
A |
T |
9: 15,909,668 (GRCm39) |
N2111K |
probably damaging |
Het |
| Fbxo31 |
C |
A |
8: 122,305,198 (GRCm39) |
E99D |
possibly damaging |
Het |
| Fgfr2 |
T |
C |
7: 129,863,487 (GRCm39) |
E34G |
probably damaging |
Het |
| Flvcr2 |
T |
C |
12: 85,794,194 (GRCm39) |
V190A |
possibly damaging |
Het |
| Herc2 |
T |
C |
7: 55,844,151 (GRCm39) |
|
probably null |
Het |
| Igkv3-2 |
A |
C |
6: 70,676,017 (GRCm39) |
M109L |
probably benign |
Het |
| Il36rn |
G |
A |
2: 24,169,726 (GRCm39) |
A29T |
probably damaging |
Het |
| Kif13b |
C |
T |
14: 65,005,068 (GRCm39) |
T1120I |
probably benign |
Het |
| Kmt2c |
A |
G |
5: 25,515,833 (GRCm39) |
I2670T |
possibly damaging |
Het |
| Lcp2 |
A |
G |
11: 34,032,501 (GRCm39) |
M360V |
probably benign |
Het |
| Ldlrad4 |
A |
G |
18: 68,368,851 (GRCm39) |
S103G |
probably benign |
Het |
| Loxl4 |
T |
C |
19: 42,596,709 (GRCm39) |
K88E |
probably damaging |
Het |
| Ltbp2 |
C |
A |
12: 84,900,686 (GRCm39) |
R192L |
probably damaging |
Het |
| Mast2 |
C |
A |
4: 116,174,929 (GRCm39) |
G475V |
probably damaging |
Het |
| Meis1 |
A |
C |
11: 18,855,631 (GRCm39) |
|
probably null |
Het |
| Mroh3 |
T |
C |
1: 136,128,675 (GRCm39) |
|
probably null |
Het |
| Myo5b |
C |
T |
18: 74,903,456 (GRCm39) |
A1824V |
probably benign |
Het |
| Nectin3 |
C |
T |
16: 46,278,487 (GRCm39) |
V303M |
probably benign |
Het |
| Or5p52 |
T |
C |
7: 107,502,157 (GRCm39) |
S78P |
possibly damaging |
Het |
| Peak1 |
T |
C |
9: 56,165,495 (GRCm39) |
N811S |
probably benign |
Het |
| Pik3ca |
C |
T |
3: 32,516,970 (GRCm39) |
A1066V |
probably benign |
Het |
| Rnf103 |
A |
G |
6: 71,482,808 (GRCm39) |
T153A |
possibly damaging |
Het |
| Sacs |
G |
A |
14: 61,448,609 (GRCm39) |
V3552I |
probably damaging |
Het |
| Sgca |
A |
T |
11: 94,862,854 (GRCm39) |
N109K |
probably damaging |
Het |
| Speg |
T |
A |
1: 75,403,519 (GRCm39) |
M2621K |
probably benign |
Het |
| Stfa2l1 |
T |
C |
16: 35,977,271 (GRCm39) |
I22T |
probably damaging |
Het |
| Tbpl2 |
G |
A |
2: 23,984,715 (GRCm39) |
P144L |
probably benign |
Het |
| Ush2a |
A |
G |
1: 188,643,084 (GRCm39) |
T4149A |
probably benign |
Het |
| Wdr46 |
C |
A |
17: 34,160,826 (GRCm39) |
P197T |
probably damaging |
Het |
| Wee2 |
C |
T |
6: 40,432,039 (GRCm39) |
R203C |
probably 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 |
|
IGL02742:Tmem219
|
APN |
7 |
126,496,220 (GRCm39) |
missense |
probably damaging |
1.00 |
|
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 |
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- AGTCACTAAGGTGTACGGATGTG -3'
(R):5'- CCTGACATTCCCCAGGTAAGTAC -3'
Sequencing Primer
(F):5'- ACGGATGTGTCCAAGTTAGCAGTC -3'
(R):5'- GGTGCTCACCCTTGTGG -3'
|
| Posted On |
2018-06-06 |
Incidental Mutation