Incidental Mutation 'R8335:Tmem214'
| ID |
644575 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Tmem214
|
| Ensembl Gene |
ENSMUSG00000038828 |
| Gene Name |
transmembrane protein 214 |
| Synonyms |
1110039B18Rik, 4921530J21Rik |
| MMRRC Submission |
067863-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly essential
(E-score: 0.546)
|
| Stock # |
R8335 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
5 |
| Chromosomal Location |
31026923-31034813 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 31029466 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Lysine to Glutamic Acid
at position 230
(K230E)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000144615
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000114716]
[ENSMUST00000201203]
|
| AlphaFold |
Q8BM55 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000114716
AA Change: K185E
PolyPhen 2
Score 0.520 (Sensitivity: 0.88; Specificity: 0.90)
|
| SMART Domains |
Protein: ENSMUSP00000110364
Gene: ENSMUSG00000038828
AA Change: K185E
| 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 |
possibly damaging
Transcript: ENSMUST00000201203
AA Change: K230E
PolyPhen 2
Score 0.846 (Sensitivity: 0.83; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000144615
Gene: ENSMUSG00000038828
AA Change: K230E
| 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 |
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.6%
- 20x: 98.9%
|
| Validation Efficiency |
97% (33/34) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 39 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Ccdc47 |
C |
G |
11: 106,099,084 (GRCm39) |
E202D |
possibly damaging |
Het |
| Ccdc47 |
T |
C |
11: 106,099,085 (GRCm39) |
E202G |
probably damaging |
Het |
| Depdc1a |
C |
A |
3: 159,228,859 (GRCm39) |
P537Q |
probably damaging |
Het |
| Dync2h1 |
A |
T |
9: 7,084,941 (GRCm39) |
M2816K |
probably benign |
Het |
| Gatb |
T |
C |
3: 85,481,628 (GRCm39) |
|
probably null |
Het |
| Gm6356 |
A |
G |
14: 6,971,838 (GRCm38) |
M99T |
probably benign |
Het |
| Ighv1-67 |
A |
C |
12: 115,567,744 (GRCm39) |
V56G |
probably damaging |
Het |
| Il27ra |
A |
T |
8: 84,766,130 (GRCm39) |
L218Q |
probably damaging |
Het |
| Madd |
G |
A |
2: 91,000,584 (GRCm39) |
R494C |
probably damaging |
Het |
| Mfsd8 |
G |
A |
3: 40,789,628 (GRCm39) |
R140C |
probably damaging |
Het |
| Mink1 |
C |
T |
11: 70,500,401 (GRCm39) |
R784W |
probably damaging |
Het |
| Mttp |
C |
T |
3: 137,808,973 (GRCm39) |
D697N |
possibly damaging |
Het |
| Mug2 |
A |
T |
6: 122,017,543 (GRCm39) |
M427L |
probably benign |
Het |
| Or10ag57 |
A |
G |
2: 87,218,204 (GRCm39) |
I52V |
probably benign |
Het |
| Or13l2 |
T |
C |
3: 97,318,024 (GRCm39) |
N158D |
probably benign |
Het |
| Or4a67 |
G |
T |
2: 88,598,117 (GRCm39) |
P181T |
probably damaging |
Het |
| Or8k3b |
T |
A |
2: 86,520,512 (GRCm39) |
D269V |
probably benign |
Het |
| Paxip1 |
T |
C |
5: 27,971,122 (GRCm39) |
H409R |
unknown |
Het |
| Pkp3 |
T |
C |
7: 140,667,669 (GRCm39) |
I490T |
probably damaging |
Het |
| Plekhg4 |
G |
T |
8: 106,102,848 (GRCm39) |
V236L |
probably damaging |
Het |
| Pm20d2 |
T |
C |
4: 33,189,245 (GRCm39) |
S46G |
probably benign |
Het |
| Prss33 |
A |
G |
17: 24,053,569 (GRCm39) |
|
probably null |
Het |
| Ptpn3 |
A |
T |
4: 57,235,286 (GRCm39) |
L358I |
probably damaging |
Het |
| Pxdn |
A |
G |
12: 30,052,096 (GRCm39) |
T758A |
probably damaging |
Het |
| Sall3 |
G |
A |
18: 81,012,801 (GRCm39) |
R1212C |
probably benign |
Het |
| Sox6 |
G |
A |
7: 115,300,949 (GRCm39) |
L173F |
probably damaging |
Het |
| Spata20 |
T |
C |
11: 94,373,369 (GRCm39) |
K501E |
probably benign |
Het |
| Stat2 |
G |
A |
10: 128,112,452 (GRCm39) |
V31I |
possibly damaging |
Het |
| Synpo2 |
T |
A |
3: 122,908,183 (GRCm39) |
N378Y |
probably damaging |
Het |
| Tacr2 |
A |
T |
10: 62,100,946 (GRCm39) |
H352L |
probably benign |
Het |
| Tnfsf8 |
A |
G |
4: 63,752,352 (GRCm39) |
S238P |
probably damaging |
Het |
| Tnn |
C |
T |
1: 159,946,053 (GRCm39) |
G922R |
probably damaging |
Het |
| Trhde |
A |
G |
10: 114,322,609 (GRCm39) |
|
probably null |
Het |
| Ttc6 |
A |
G |
12: 57,707,077 (GRCm39) |
I661M |
probably benign |
Het |
| Vmn1r209 |
T |
A |
13: 22,989,977 (GRCm39) |
M238L |
probably damaging |
Het |
| Vmn2r29 |
A |
G |
7: 7,234,445 (GRCm39) |
S814P |
probably damaging |
Het |
| Vsig10 |
T |
C |
5: 117,486,435 (GRCm39) |
L448P |
probably damaging |
Het |
| Xpo1 |
T |
G |
11: 23,230,603 (GRCm39) |
|
probably null |
Het |
| Zfp616 |
A |
T |
11: 73,974,726 (GRCm39) |
K423* |
probably null |
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 |
|
R1204:Tmem214
|
UTSW |
5 |
31,033,134 (GRCm39) |
missense |
probably damaging |
0.97 |
|
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 |
|
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'- TCAGCGTGGTCATCAGTTCC -3'
(R):5'- CTGACAAATTCTAGGGGAGCTAG -3'
Sequencing Primer
(F):5'- GGTCATCAGTTCCCTTTACAATAAG -3'
(R):5'- TTCCATGGATAAAATGAACACACGG -3'
|
| Posted On |
2020-09-02 |
Incidental Mutation