Incidental Mutation 'R1204:Tmem214'
ID |
100326 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Tmem214
|
Ensembl Gene |
ENSMUSG00000038828 |
Gene Name |
transmembrane protein 214 |
Synonyms |
1110039B18Rik, 4921530J21Rik |
MMRRC Submission |
039274-MU
|
Accession Numbers |
|
Essential gene? |
Possibly essential
(E-score: 0.546)
|
Stock # |
R1204 (G1)
|
Quality Score |
163 |
Status
|
Not validated
|
Chromosome |
5 |
Chromosomal Location |
31026923-31034813 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
C to T
at 31033134 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Alanine to Valine
at position 509
(A509V)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000144615
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000114716]
[ENSMUST00000201203]
|
AlphaFold |
Q8BM55 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000046349
AA Change: A509V
PolyPhen 2
Score 0.970 (Sensitivity: 0.77; Specificity: 0.96)
|
SMART Domains |
Protein: ENSMUSP00000037484 Gene: ENSMUSG00000038828 AA Change: A509V
Domain | Start | End | E-Value | Type |
low complexity region
|
16 |
36 |
N/A |
INTRINSIC |
low complexity region
|
84 |
94 |
N/A |
INTRINSIC |
Pfam:DUF2359
|
217 |
683 |
6.9e-246 |
PFAM |
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000114716
AA Change: A464V
PolyPhen 2
Score 0.970 (Sensitivity: 0.77; Specificity: 0.96)
|
SMART Domains |
Protein: ENSMUSP00000110364 Gene: ENSMUSG00000038828 AA Change: A464V
Domain | Start | End | E-Value | Type |
low complexity region
|
16 |
36 |
N/A |
INTRINSIC |
low complexity region
|
84 |
94 |
N/A |
INTRINSIC |
Pfam:DUF2359
|
172 |
638 |
8e-247 |
PFAM |
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000201203
AA Change: A509V
PolyPhen 2
Score 0.970 (Sensitivity: 0.77; Specificity: 0.96)
|
SMART Domains |
Protein: ENSMUSP00000144615 Gene: ENSMUSG00000038828 AA Change: A509V
Domain | Start | End | E-Value | Type |
low complexity region
|
16 |
36 |
N/A |
INTRINSIC |
low complexity region
|
84 |
94 |
N/A |
INTRINSIC |
Pfam:DUF2359
|
217 |
683 |
6.9e-246 |
PFAM |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000201234
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000202008
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000202050
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000202534
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000202951
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000202774
|
Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.2%
- 10x: 96.1%
- 20x: 92.2%
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 20 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Acacb |
A |
T |
5: 114,328,214 (GRCm39) |
I133F |
probably damaging |
Het |
Acyp1 |
A |
T |
12: 85,326,866 (GRCm39) |
|
probably null |
Het |
Ermap |
T |
C |
4: 119,046,064 (GRCm39) |
K22R |
possibly damaging |
Het |
Glce |
T |
C |
9: 61,977,849 (GRCm39) |
T12A |
probably damaging |
Het |
Hao1 |
G |
A |
2: 134,364,947 (GRCm39) |
R227* |
probably null |
Het |
Hectd4 |
A |
G |
5: 121,488,548 (GRCm39) |
D3613G |
possibly damaging |
Het |
Hspa2 |
A |
G |
12: 76,451,641 (GRCm39) |
M112V |
probably benign |
Het |
Knl1 |
A |
G |
2: 118,901,670 (GRCm39) |
I1124V |
probably benign |
Het |
Lrch3 |
T |
C |
16: 32,829,584 (GRCm39) |
I738T |
probably damaging |
Het |
Mgrn1 |
T |
G |
16: 4,725,273 (GRCm39) |
F44V |
probably damaging |
Het |
Or1af1 |
A |
G |
2: 37,109,651 (GRCm39) |
Q50R |
probably benign |
Het |
Otog |
G |
A |
7: 45,909,335 (GRCm39) |
V602M |
probably benign |
Het |
Pik3r5 |
T |
G |
11: 68,385,050 (GRCm39) |
L652V |
probably benign |
Het |
Pkdrej |
G |
A |
15: 85,702,513 (GRCm39) |
T1141M |
probably damaging |
Het |
Sema3a |
T |
C |
5: 13,573,142 (GRCm39) |
|
probably benign |
Het |
Syt3 |
A |
T |
7: 44,042,091 (GRCm39) |
I317F |
probably damaging |
Het |
Tmem25 |
T |
C |
9: 44,706,529 (GRCm39) |
E284G |
probably benign |
Het |
Trim9 |
T |
C |
12: 70,393,501 (GRCm39) |
N148D |
probably damaging |
Het |
Vmn2r107 |
A |
G |
17: 20,578,031 (GRCm39) |
R447G |
probably benign |
Het |
Zfp964 |
A |
T |
8: 70,116,668 (GRCm39) |
I423L |
probably benign |
Het |
|
Other mutations in Tmem214 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL01083:Tmem214
|
APN |
5 |
31,033,437 (GRCm39) |
missense |
probably benign |
0.15 |
IGL02119:Tmem214
|
APN |
5 |
31,030,090 (GRCm39) |
missense |
probably benign |
0.01 |
IGL02123:Tmem214
|
APN |
5 |
31,030,090 (GRCm39) |
missense |
probably benign |
0.01 |
IGL02124:Tmem214
|
APN |
5 |
31,030,090 (GRCm39) |
missense |
probably benign |
0.01 |
IGL02126:Tmem214
|
APN |
5 |
31,030,090 (GRCm39) |
missense |
probably benign |
0.01 |
IGL02186:Tmem214
|
APN |
5 |
31,030,090 (GRCm39) |
missense |
probably benign |
0.01 |
IGL02395:Tmem214
|
APN |
5 |
31,030,090 (GRCm39) |
missense |
probably benign |
0.01 |
IGL02396:Tmem214
|
APN |
5 |
31,030,090 (GRCm39) |
missense |
probably benign |
0.01 |
IGL02397:Tmem214
|
APN |
5 |
31,030,090 (GRCm39) |
missense |
probably benign |
0.01 |
IGL02400:Tmem214
|
APN |
5 |
31,030,090 (GRCm39) |
missense |
probably benign |
0.01 |
IGL02403:Tmem214
|
APN |
5 |
31,030,090 (GRCm39) |
missense |
probably benign |
0.01 |
IGL02404:Tmem214
|
APN |
5 |
31,030,090 (GRCm39) |
missense |
probably benign |
0.01 |
IGL02539:Tmem214
|
APN |
5 |
31,030,090 (GRCm39) |
missense |
probably benign |
0.01 |
IGL02544:Tmem214
|
APN |
5 |
31,030,090 (GRCm39) |
missense |
probably benign |
0.01 |
IGL02934:Tmem214
|
APN |
5 |
31,028,888 (GRCm39) |
missense |
probably benign |
0.26 |
PIT4382001:Tmem214
|
UTSW |
5 |
31,028,795 (GRCm39) |
missense |
possibly damaging |
0.89 |
R0501:Tmem214
|
UTSW |
5 |
31,029,876 (GRCm39) |
missense |
probably damaging |
1.00 |
R0519:Tmem214
|
UTSW |
5 |
31,027,012 (GRCm39) |
start codon destroyed |
probably null |
0.98 |
R0675:Tmem214
|
UTSW |
5 |
31,029,169 (GRCm39) |
missense |
possibly damaging |
0.70 |
R1616:Tmem214
|
UTSW |
5 |
31,028,907 (GRCm39) |
nonsense |
probably null |
|
R2096:Tmem214
|
UTSW |
5 |
31,033,714 (GRCm39) |
missense |
probably damaging |
1.00 |
R2219:Tmem214
|
UTSW |
5 |
31,030,975 (GRCm39) |
missense |
possibly damaging |
0.72 |
R5635:Tmem214
|
UTSW |
5 |
31,028,861 (GRCm39) |
missense |
probably damaging |
1.00 |
R6003:Tmem214
|
UTSW |
5 |
31,028,068 (GRCm39) |
missense |
possibly damaging |
0.52 |
R6744:Tmem214
|
UTSW |
5 |
31,031,372 (GRCm39) |
missense |
probably damaging |
1.00 |
R7208:Tmem214
|
UTSW |
5 |
31,028,065 (GRCm39) |
missense |
possibly damaging |
0.52 |
R8155:Tmem214
|
UTSW |
5 |
31,029,136 (GRCm39) |
missense |
possibly damaging |
0.56 |
R8335:Tmem214
|
UTSW |
5 |
31,029,466 (GRCm39) |
missense |
possibly damaging |
0.85 |
R9562:Tmem214
|
UTSW |
5 |
31,027,043 (GRCm39) |
nonsense |
probably null |
|
R9565:Tmem214
|
UTSW |
5 |
31,027,043 (GRCm39) |
nonsense |
probably null |
|
|
Predicted Primers |
PCR Primer
(F):5'- ACAACTCCTCTGACCTCTGAGTGC -3'
(R):5'- AGCTTCCCCTAGCCAACATGCT -3'
Sequencing Primer
(F):5'- cacagcaagtaaaagggcag -3'
(R):5'- CAAACAGCCAAAAACGGGG -3'
|
Posted On |
2014-01-15 |