Incidental Mutation 'R2210:Tmem107'
| ID |
239326 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Tmem107
|
| Ensembl Gene |
ENSMUSG00000020895 |
| Gene Name |
transmembrane protein 107 |
| Synonyms |
1110004B13Rik, 2810049P21Rik |
| MMRRC Submission |
040212-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R2210 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
11 |
| Chromosomal Location |
68961635-68964119 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 68962096 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamic Acid to Glycine
at position 45
(E45G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000091624
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000075980]
[ENSMUST00000094081]
|
| AlphaFold |
Q9CPV0 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000075980
AA Change: E45G
PolyPhen 2
Score 0.893 (Sensitivity: 0.82; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000075363
Gene: ENSMUSG00000020895
AA Change: E45G
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:TMEM107
|
7 |
130 |
2e-53 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000082965
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000094081
AA Change: E45G
PolyPhen 2
Score 0.893 (Sensitivity: 0.82; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000091624
Gene: ENSMUSG00000020895
AA Change: E45G
| 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: ENSMUST00000125215
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000152142
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000158162
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000128323
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000146646
|
| Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.5%
- 10x: 97.2%
- 20x: 95.0%
|
| Validation Efficiency |
|
| 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: 33 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 2210016L21Rik |
C |
G |
5: 115,080,348 (GRCm39) |
R28G |
probably damaging |
Het |
| Adgrb1 |
C |
T |
15: 74,419,553 (GRCm39) |
A798V |
probably damaging |
Het |
| Ash1l |
G |
T |
3: 88,973,605 (GRCm39) |
D2555Y |
probably damaging |
Het |
| Atr |
G |
A |
9: 95,789,353 (GRCm39) |
R1503Q |
probably damaging |
Het |
| Cbln3 |
T |
A |
14: 56,121,383 (GRCm39) |
I88F |
possibly damaging |
Het |
| Cct7 |
G |
A |
6: 85,436,212 (GRCm39) |
G41D |
probably damaging |
Het |
| Cd1d2 |
G |
T |
3: 86,895,041 (GRCm39) |
A138S |
possibly damaging |
Het |
| Dct |
T |
C |
14: 118,280,561 (GRCm39) |
I152V |
probably benign |
Het |
| Dgkq |
C |
A |
5: 108,808,389 (GRCm39) |
R58L |
probably damaging |
Het |
| Emc10 |
G |
A |
7: 44,142,616 (GRCm39) |
R109W |
probably damaging |
Het |
| Gm4884 |
A |
T |
7: 40,692,970 (GRCm39) |
E313V |
possibly damaging |
Het |
| Hectd1 |
A |
T |
12: 51,853,245 (GRCm39) |
I92K |
probably damaging |
Het |
| Icam1 |
A |
G |
9: 20,930,329 (GRCm39) |
E61G |
probably damaging |
Het |
| Itgb2l |
C |
T |
16: 96,227,421 (GRCm39) |
V541M |
possibly damaging |
Het |
| Lmtk2 |
A |
G |
5: 144,084,427 (GRCm39) |
E154G |
probably damaging |
Het |
| Majin |
C |
A |
19: 6,272,728 (GRCm39) |
H223N |
possibly damaging |
Het |
| Mc4r |
A |
T |
18: 66,992,466 (GRCm39) |
F216I |
probably damaging |
Het |
| Muc4 |
AG |
AGG |
16: 32,755,176 (GRCm38) |
|
probably null |
Het |
| Obscn |
A |
T |
11: 58,958,913 (GRCm39) |
V3379D |
probably damaging |
Het |
| Or8g30 |
A |
T |
9: 39,230,089 (GRCm39) |
S274T |
probably damaging |
Het |
| Pde4b |
A |
T |
4: 102,454,672 (GRCm39) |
N346I |
probably damaging |
Het |
| Pitpnm1 |
T |
C |
19: 4,155,253 (GRCm39) |
S331P |
probably damaging |
Het |
| Plcb2 |
T |
A |
2: 118,547,984 (GRCm39) |
I437F |
probably damaging |
Het |
| Pramel14 |
T |
A |
4: 143,720,789 (GRCm39) |
M51L |
probably benign |
Het |
| Prr12 |
A |
G |
7: 44,698,775 (GRCm39) |
|
probably benign |
Het |
| Pus7l |
T |
G |
15: 94,438,173 (GRCm39) |
D224A |
possibly damaging |
Het |
| Sh3pxd2a |
A |
G |
19: 47,255,782 (GRCm39) |
S1007P |
possibly damaging |
Het |
| Stac |
G |
A |
9: 111,431,638 (GRCm39) |
P238S |
probably damaging |
Het |
| Tmt1b |
T |
A |
10: 128,794,591 (GRCm39) |
K244N |
probably damaging |
Het |
| Triml2 |
T |
C |
8: 43,636,397 (GRCm39) |
Y61H |
probably damaging |
Het |
| Uba2 |
T |
C |
7: 33,862,587 (GRCm39) |
D95G |
probably damaging |
Het |
| Ube2d3 |
T |
A |
3: 135,168,802 (GRCm39) |
D132E |
probably benign |
Het |
| Unc5d |
A |
G |
8: 29,251,825 (GRCm39) |
I216T |
probably 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 |
|
R2919:Tmem107
|
UTSW |
11 |
68,962,247 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2920: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'- TCTCATCTTGGAGTGGACCC -3'
(R):5'- ATGAGTCACCTGAGGACGATG -3'
Sequencing Primer
(F):5'- ATCTTGGAGTGGACCCAGCTC -3'
(R):5'- GTGCTATTGAACATGGAGACTCC -3'
|
| Posted On |
2014-10-15 |
Incidental Mutation