Incidental Mutation 'R7989:Tmem200a'
| ID |
651642 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Tmem200a
|
| Ensembl Gene |
ENSMUSG00000049420 |
| Gene Name |
transmembrane protein 200A |
| Synonyms |
C030003D03Rik |
| MMRRC Submission |
046030-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.063)
|
| Stock # |
R7989 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
10 |
| Chromosomal Location |
25867080-25955713 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to A
at 25869955 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Phenylalanine
at position 105
(V105F)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000064080
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000066049]
[ENSMUST00000218232]
[ENSMUST00000219338]
[ENSMUST00000219651]
[ENSMUST00000219872]
|
| AlphaFold |
Q8C817 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000066049
AA Change: V105F
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000064080
Gene: ENSMUSG00000049420
AA Change: V105F
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:DUF2371
|
16 |
161 |
8.9e-62 |
PFAM |
|
low complexity region
|
262 |
279 |
N/A |
INTRINSIC |
|
low complexity region
|
387 |
401 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000218232
AA Change: V105F
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000219338
AA Change: V105F
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000219651
AA Change: V105F
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000219872
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.6%
- 20x: 98.6%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 34 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abcb5 |
T |
A |
12: 118,875,278 (GRCm39) |
E631D |
probably benign |
Het |
| Abcc12 |
T |
C |
8: 87,232,108 (GRCm39) |
T1317A |
probably benign |
Het |
| Abcc4 |
T |
C |
14: 118,836,772 (GRCm39) |
Q663R |
probably benign |
Het |
| Arhgef28 |
G |
A |
13: 98,036,243 (GRCm39) |
T1672I |
probably benign |
Het |
| Dnah3 |
A |
T |
7: 119,677,012 (GRCm39) |
D496E |
probably benign |
Het |
| Dse |
A |
T |
10: 34,029,454 (GRCm39) |
Y545* |
probably null |
Het |
| Eps8 |
C |
T |
6: 137,505,569 (GRCm39) |
R53Q |
possibly damaging |
Het |
| Fam124b |
A |
T |
1: 80,191,311 (GRCm39) |
L24Q |
probably damaging |
Het |
| Fam180a |
A |
T |
6: 35,292,273 (GRCm39) |
N44K |
probably damaging |
Het |
| Gabrg3 |
G |
T |
7: 56,374,389 (GRCm39) |
N392K |
possibly damaging |
Het |
| Gprin2 |
G |
A |
14: 33,916,661 (GRCm39) |
R370* |
probably null |
Het |
| Grhpr |
C |
T |
4: 44,989,008 (GRCm39) |
P275S |
probably damaging |
Het |
| Hsf5 |
A |
G |
11: 87,526,450 (GRCm39) |
Q374R |
probably benign |
Het |
| Igtp |
A |
C |
11: 58,097,205 (GRCm39) |
K125N |
probably damaging |
Het |
| Il17a |
T |
C |
1: 20,802,438 (GRCm39) |
V49A |
possibly damaging |
Het |
| Klhl12 |
T |
C |
1: 134,417,143 (GRCm39) |
S552P |
probably benign |
Het |
| Or4c15 |
T |
C |
2: 88,759,858 (GRCm39) |
D267G |
probably damaging |
Het |
| Or5d45 |
T |
A |
2: 88,153,164 (GRCm39) |
N295I |
probably damaging |
Het |
| Pkd2l1 |
A |
T |
19: 44,142,507 (GRCm39) |
C512S |
probably benign |
Het |
| Plekha7 |
G |
A |
7: 115,757,558 (GRCm39) |
P464L |
probably benign |
Het |
| Plk5 |
A |
G |
10: 80,199,899 (GRCm39) |
R469G |
probably benign |
Het |
| Pphln1 |
C |
A |
15: 93,386,960 (GRCm39) |
H353N |
possibly damaging |
Het |
| Prkaa1 |
A |
G |
15: 5,206,166 (GRCm39) |
N341D |
probably damaging |
Het |
| Skp2 |
C |
T |
15: 9,127,979 (GRCm39) |
R129H |
probably benign |
Het |
| Slc5a6 |
A |
G |
5: 31,199,480 (GRCm39) |
|
probably null |
Het |
| Spata31d1b |
C |
T |
13: 59,866,182 (GRCm39) |
P1110L |
possibly damaging |
Het |
| Speer4a2 |
A |
T |
5: 26,290,643 (GRCm39) |
L176Q |
probably damaging |
Het |
| Srgap2 |
A |
G |
1: 131,226,170 (GRCm39) |
S368P |
|
Het |
| Tiam2 |
G |
T |
17: 3,568,524 (GRCm39) |
E1557* |
probably null |
Het |
| Trbv3 |
A |
T |
6: 41,025,576 (GRCm39) |
K55N |
probably benign |
Het |
| Trio |
A |
G |
15: 27,773,021 (GRCm39) |
L1881P |
probably damaging |
Het |
| Unc13a |
G |
A |
8: 72,104,917 (GRCm39) |
R782W |
probably damaging |
Het |
| Usp32 |
A |
T |
11: 84,925,126 (GRCm39) |
M117K |
|
Het |
| Zfp655 |
T |
A |
5: 145,181,380 (GRCm39) |
C413S |
probably damaging |
Het |
|
| Other mutations in Tmem200a |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01098:Tmem200a
|
APN |
10 |
25,870,041 (GRCm39) |
missense |
probably damaging |
0.98 |
|
IGL02323:Tmem200a
|
APN |
10 |
25,869,328 (GRCm39) |
missense |
probably benign |
0.12 |
|
IGL02702:Tmem200a
|
APN |
10 |
25,869,501 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL03221:Tmem200a
|
APN |
10 |
25,869,922 (GRCm39) |
missense |
possibly damaging |
0.54 |
|
R0467:Tmem200a
|
UTSW |
10 |
25,870,002 (GRCm39) |
missense |
probably benign |
0.09 |
|
R1169:Tmem200a
|
UTSW |
10 |
25,870,246 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1543:Tmem200a
|
UTSW |
10 |
25,954,518 (GRCm39) |
unclassified |
probably benign |
|
|
R1555:Tmem200a
|
UTSW |
10 |
25,869,782 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1630:Tmem200a
|
UTSW |
10 |
25,868,812 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1693:Tmem200a
|
UTSW |
10 |
25,869,877 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R1786:Tmem200a
|
UTSW |
10 |
25,869,825 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1891:Tmem200a
|
UTSW |
10 |
25,869,970 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2113:Tmem200a
|
UTSW |
10 |
25,869,220 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2260:Tmem200a
|
UTSW |
10 |
25,869,313 (GRCm39) |
missense |
probably benign |
|
|
R3793:Tmem200a
|
UTSW |
10 |
25,870,087 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5062:Tmem200a
|
UTSW |
10 |
25,869,813 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5178:Tmem200a
|
UTSW |
10 |
25,870,277 (GRCm39) |
missense |
probably benign |
0.02 |
|
R5195:Tmem200a
|
UTSW |
10 |
25,954,854 (GRCm39) |
unclassified |
probably benign |
|
|
R5208:Tmem200a
|
UTSW |
10 |
25,870,051 (GRCm39) |
missense |
probably benign |
0.00 |
|
R6045:Tmem200a
|
UTSW |
10 |
25,868,905 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6319:Tmem200a
|
UTSW |
10 |
25,869,393 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6552:Tmem200a
|
UTSW |
10 |
25,869,381 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7797:Tmem200a
|
UTSW |
10 |
25,869,864 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R7961:Tmem200a
|
UTSW |
10 |
25,869,904 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8009:Tmem200a
|
UTSW |
10 |
25,869,904 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8074:Tmem200a
|
UTSW |
10 |
25,868,850 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9254:Tmem200a
|
UTSW |
10 |
25,869,654 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9358:Tmem200a
|
UTSW |
10 |
25,869,677 (GRCm39) |
missense |
probably benign |
0.20 |
|
| Predicted Primers |
PCR Primer
(F):5'- CTGCTCCTTGAGTCTCAGAG -3'
(R):5'- CACGAGCAGATGTTGTGGTG -3'
Sequencing Primer
(F):5'- CGATGACTGTGGAGTAGATATCCCTC -3'
(R):5'- TGGTCCGTGGGAAAATCCGAC -3'
|
| Posted On |
2020-09-15 |
Incidental Mutation