Incidental Mutation 'R2920:Tmem107'
ID |
255482 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Tmem107
|
Ensembl Gene |
ENSMUSG00000020895 |
Gene Name |
transmembrane protein 107 |
Synonyms |
1110004B13Rik, 2810049P21Rik |
MMRRC Submission |
040505-MU
|
Accession Numbers |
|
Essential gene? |
Essential
(E-score: 1.000)
|
Stock # |
R2920 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
11 |
Chromosomal Location |
68961635-68964119 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 68962247 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Leucine to Proline
at position 68
(L68P)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000091624
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000075980]
[ENSMUST00000094081]
|
AlphaFold |
Q9CPV0 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000075980
AA Change: L68P
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000075363 Gene: ENSMUSG00000020895 AA Change: L68P
Domain | Start | End | E-Value | Type |
Pfam:TMEM107
|
7 |
130 |
2e-53 |
PFAM |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000082965
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000094081
AA Change: L68P
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000091624 Gene: ENSMUSG00000020895 AA Change: L68P
Domain | Start | End | E-Value | Type |
Pfam:TMEM107
|
7 |
124 |
2.4e-46 |
PFAM |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000117256
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000123038
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000123821
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000146646
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000152142
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000125215
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000158162
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000128323
|
Meta Mutation Damage Score |
0.8217 |
Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.6%
- 10x: 97.3%
- 20x: 95.0%
|
Validation Efficiency |
96% (48/50) |
MGI Phenotype |
PHENOTYPE: Mice homozygous for a knock-out allele exhibit prenatal lethality. Mice homozygous for an ENU induced allele exhibit preaxial polydactyly, exencephaly, microphthalmia, cleft palate, craniofacial defects, short sternum, split sternum and absent floor plate. [provided by MGI curators]
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 47 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Adgb |
A |
G |
10: 10,265,987 (GRCm39) |
Y1025H |
probably damaging |
Het |
Adgrv1 |
C |
T |
13: 81,596,984 (GRCm39) |
A4122T |
probably benign |
Het |
Aloxe3 |
C |
T |
11: 69,033,749 (GRCm39) |
T621I |
probably damaging |
Het |
Atp2b3 |
A |
C |
X: 72,577,526 (GRCm39) |
T318P |
probably benign |
Het |
Atrx |
A |
T |
X: 104,874,474 (GRCm39) |
V1962D |
probably benign |
Het |
Chl1 |
C |
A |
6: 103,672,304 (GRCm39) |
T531K |
probably damaging |
Het |
Clca3b |
T |
A |
3: 144,543,614 (GRCm39) |
D405V |
probably benign |
Het |
Clca3b |
C |
T |
3: 144,552,692 (GRCm39) |
D115N |
probably benign |
Het |
Comtd1 |
A |
G |
14: 21,897,686 (GRCm39) |
L149P |
possibly damaging |
Het |
Cops7a |
A |
G |
6: 124,939,325 (GRCm39) |
V108A |
probably benign |
Het |
Crebbp |
A |
G |
16: 3,936,946 (GRCm39) |
V343A |
probably damaging |
Het |
Edrf1 |
T |
A |
7: 133,269,301 (GRCm39) |
D1109E |
probably benign |
Het |
Elmo3 |
A |
G |
8: 106,034,691 (GRCm39) |
E359G |
possibly damaging |
Het |
Ep400 |
C |
A |
5: 110,903,780 (GRCm39) |
G273V |
probably damaging |
Het |
Fgfr3 |
A |
G |
5: 33,891,284 (GRCm39) |
N516S |
probably damaging |
Het |
Glb1l |
T |
A |
1: 75,185,834 (GRCm39) |
E31D |
probably benign |
Het |
Hdac1-ps |
A |
G |
17: 78,800,275 (GRCm39) |
D422G |
probably damaging |
Het |
Il12rb2 |
C |
T |
6: 67,337,552 (GRCm39) |
V110I |
probably damaging |
Het |
Ints3 |
T |
C |
3: 90,300,469 (GRCm39) |
E884G |
probably benign |
Het |
Lin7b |
A |
G |
7: 45,017,821 (GRCm39) |
V170A |
possibly damaging |
Het |
Lrch2 |
A |
T |
X: 146,256,026 (GRCm39) |
V750E |
probably damaging |
Het |
Mepe |
C |
T |
5: 104,486,113 (GRCm39) |
R418C |
probably damaging |
Het |
Mettl25 |
A |
T |
10: 105,601,038 (GRCm39) |
|
probably null |
Het |
Mphosph9 |
G |
A |
5: 124,399,069 (GRCm39) |
T982I |
probably benign |
Het |
Mslnl |
G |
A |
17: 25,961,908 (GRCm39) |
V128M |
probably damaging |
Het |
Myo10 |
G |
T |
15: 25,801,226 (GRCm39) |
V1472L |
probably damaging |
Het |
Myo9b |
A |
G |
8: 71,778,501 (GRCm39) |
K445R |
probably damaging |
Het |
Ntng2 |
T |
C |
2: 29,094,223 (GRCm39) |
M383V |
probably benign |
Het |
Or13n4 |
C |
T |
7: 106,423,571 (GRCm39) |
R54Q |
probably benign |
Het |
Or2z2 |
T |
C |
11: 58,346,403 (GRCm39) |
Y124C |
probably damaging |
Het |
Or7a37 |
A |
C |
10: 78,805,846 (GRCm39) |
D121A |
probably damaging |
Het |
Pak6 |
A |
T |
2: 118,524,488 (GRCm39) |
|
probably benign |
Het |
Pcdh8 |
G |
T |
14: 80,006,154 (GRCm39) |
P803Q |
possibly damaging |
Het |
Pfkfb3 |
C |
T |
2: 11,489,138 (GRCm39) |
V286I |
probably benign |
Het |
Rbp3 |
C |
T |
14: 33,677,975 (GRCm39) |
T641M |
probably damaging |
Het |
Rint1 |
A |
G |
5: 24,010,400 (GRCm39) |
E203G |
probably benign |
Het |
Sdf2 |
G |
C |
11: 78,145,680 (GRCm39) |
V126L |
probably damaging |
Het |
Slc13a5 |
T |
C |
11: 72,138,617 (GRCm39) |
E442G |
possibly damaging |
Het |
Slc14a2 |
G |
T |
18: 78,201,512 (GRCm39) |
S669* |
probably null |
Het |
Slc38a7 |
A |
G |
8: 96,572,571 (GRCm39) |
I157T |
possibly damaging |
Het |
Slc4a5 |
T |
C |
6: 83,241,369 (GRCm39) |
L215P |
probably damaging |
Het |
Tbc1d9 |
T |
C |
8: 83,937,098 (GRCm39) |
V60A |
probably benign |
Het |
Tcerg1l |
T |
C |
7: 137,850,108 (GRCm39) |
R422G |
probably damaging |
Het |
Ugt2b5 |
A |
G |
5: 87,273,266 (GRCm39) |
F467L |
possibly damaging |
Het |
Vmn1r19 |
A |
T |
6: 57,381,909 (GRCm39) |
N154I |
probably benign |
Het |
Vmn2r69 |
T |
A |
7: 85,060,973 (GRCm39) |
I204L |
probably benign |
Het |
Zbtb1 |
T |
A |
12: 76,432,619 (GRCm39) |
S202T |
possibly damaging |
Het |
|
Other mutations in Tmem107 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL02567:Tmem107
|
APN |
11 |
68,961,845 (GRCm39) |
missense |
possibly damaging |
0.79 |
PIT4696001:Tmem107
|
UTSW |
11 |
68,963,399 (GRCm39) |
missense |
probably benign |
|
R0133:Tmem107
|
UTSW |
11 |
68,963,239 (GRCm39) |
splice site |
probably benign |
|
R1537:Tmem107
|
UTSW |
11 |
68,963,284 (GRCm39) |
missense |
probably damaging |
0.99 |
R2210:Tmem107
|
UTSW |
11 |
68,962,096 (GRCm39) |
missense |
possibly damaging |
0.89 |
R2919:Tmem107
|
UTSW |
11 |
68,962,247 (GRCm39) |
missense |
probably damaging |
1.00 |
R3974:Tmem107
|
UTSW |
11 |
68,962,301 (GRCm39) |
critical splice donor site |
probably null |
|
R4326:Tmem107
|
UTSW |
11 |
68,962,301 (GRCm39) |
critical splice donor site |
probably null |
|
R4327:Tmem107
|
UTSW |
11 |
68,962,301 (GRCm39) |
critical splice donor site |
probably null |
|
R4328:Tmem107
|
UTSW |
11 |
68,962,301 (GRCm39) |
critical splice donor site |
probably null |
|
R4599:Tmem107
|
UTSW |
11 |
68,962,274 (GRCm39) |
missense |
probably damaging |
1.00 |
R4962:Tmem107
|
UTSW |
11 |
68,962,087 (GRCm39) |
missense |
possibly damaging |
0.89 |
R6218:Tmem107
|
UTSW |
11 |
68,962,241 (GRCm39) |
missense |
probably damaging |
1.00 |
R6755:Tmem107
|
UTSW |
11 |
68,961,837 (GRCm39) |
missense |
probably damaging |
0.98 |
R7575:Tmem107
|
UTSW |
11 |
68,963,633 (GRCm39) |
missense |
probably benign |
0.27 |
R8271:Tmem107
|
UTSW |
11 |
68,962,281 (GRCm39) |
missense |
probably damaging |
0.97 |
|
Predicted Primers |
PCR Primer
(F):5'- CTCTCAAATTCACCCCGGAG -3'
(R):5'- GCTCACATCCGGATTTAACGAATG -3'
Sequencing Primer
(F):5'- GGAATACGAAAAGCAGGACAACC -3'
(R):5'- CCGGATTTAACGAATGTTTGAAGTC -3'
|
Posted On |
2014-12-29 |