Incidental Mutation 'R6353:Tmeff2'
| ID |
512275 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Tmeff2
|
| Ensembl Gene |
ENSMUSG00000026109 |
| Gene Name |
transmembrane protein with EGF-like and two follistatin-like domains 2 |
| Synonyms |
7630402F16Rik, 4832418D20Rik |
| MMRRC Submission |
044505-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R6353 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
1 |
| Chromosomal Location |
50951946-51226429 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 51220985 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Alanine
at position 320
(V320A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000080533
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000081851]
|
| AlphaFold |
Q9QYM9 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000081851
AA Change: V320A
PolyPhen 2
Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000080533
Gene: ENSMUSG00000026109
AA Change: V320A
| Domain | Start | End | E-Value | Type |
|---|
|
transmembrane domain
|
13 |
32 |
N/A |
INTRINSIC |
|
KAZAL
|
90 |
135 |
1.54e-14 |
SMART |
|
KAZAL
|
181 |
227 |
6.05e-13 |
SMART |
|
EGF
|
264 |
301 |
3.57e-2 |
SMART |
|
transmembrane domain
|
319 |
341 |
N/A |
INTRINSIC |
|
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.5%
- 10x: 97.8%
- 20x: 93.3%
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the tomoregulin family of transmembrane proteins. This protein has been shown to function as both an oncogene and a tumor suppressor depending on the cellular context and may regulate prostate cancer cell invasion. Multiple soluble forms of this protein have been identified that arise from both an alternative splice variant and ectodomain shedding. Additionally, this gene has been found to be hypermethylated in multiple cancer types. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Feb 2015]
PHENOTYPE: Mice homozygous for a reporter allele display slow postnatal weight gain, decreased white adipose tissue amount, and complete lethality at weaning. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 41 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4930550C14Rik |
C |
A |
9: 53,325,642 (GRCm39) |
Q60K |
probably benign |
Het |
| Aadacl2fm2 |
A |
T |
3: 59,659,529 (GRCm39) |
L327F |
probably damaging |
Het |
| Aamp |
T |
C |
1: 74,319,987 (GRCm39) |
D397G |
probably benign |
Het |
| Aco1 |
G |
A |
4: 40,186,367 (GRCm39) |
R593Q |
probably benign |
Het |
| Acta1 |
T |
C |
8: 124,620,426 (GRCm39) |
E4G |
probably benign |
Het |
| Apob |
A |
T |
12: 8,059,421 (GRCm39) |
K2601N |
probably damaging |
Het |
| Arpin |
C |
A |
7: 79,585,093 (GRCm39) |
|
probably benign |
Het |
| Asnsd1 |
T |
C |
1: 53,386,938 (GRCm39) |
I230V |
probably benign |
Het |
| Baiap2l1 |
C |
T |
5: 144,218,898 (GRCm39) |
E237K |
possibly damaging |
Het |
| Chek1 |
T |
C |
9: 36,635,255 (GRCm39) |
K43E |
probably benign |
Het |
| Clec2g |
T |
A |
6: 128,959,895 (GRCm39) |
|
probably null |
Het |
| Cnot10 |
A |
G |
9: 114,426,614 (GRCm39) |
L646P |
probably damaging |
Het |
| Cyp2j9 |
T |
C |
4: 96,474,135 (GRCm39) |
T102A |
probably benign |
Het |
| Dnase1l2 |
A |
T |
17: 24,661,219 (GRCm39) |
L30Q |
probably damaging |
Het |
| Edc3 |
T |
C |
9: 57,623,520 (GRCm39) |
S152P |
probably benign |
Het |
| Gask1b |
A |
T |
3: 79,848,647 (GRCm39) |
R464S |
probably damaging |
Het |
| Gpr160 |
A |
T |
3: 30,950,171 (GRCm39) |
D81V |
probably damaging |
Het |
| Intu |
A |
T |
3: 40,608,138 (GRCm39) |
D32V |
probably damaging |
Het |
| Itga5 |
T |
C |
15: 103,260,950 (GRCm39) |
E512G |
probably damaging |
Het |
| Khnyn |
T |
C |
14: 56,131,760 (GRCm39) |
F561L |
possibly damaging |
Het |
| Kmt2e |
T |
A |
5: 23,698,243 (GRCm39) |
V645E |
probably damaging |
Het |
| Mcoln3 |
T |
C |
3: 145,836,909 (GRCm39) |
F247S |
probably damaging |
Het |
| Nek9 |
G |
A |
12: 85,348,603 (GRCm39) |
T977I |
probably damaging |
Het |
| Nphs1 |
A |
G |
7: 30,173,969 (GRCm39) |
T1015A |
probably damaging |
Het |
| Ntmt2 |
A |
G |
1: 163,531,680 (GRCm39) |
Y158H |
possibly damaging |
Het |
| Nudcd1 |
T |
C |
15: 44,284,158 (GRCm39) |
Y76C |
probably damaging |
Het |
| Or2a54 |
C |
A |
6: 43,093,070 (GRCm39) |
Y131* |
probably null |
Het |
| Or8b44 |
T |
C |
9: 38,410,112 (GRCm39) |
I49T |
probably benign |
Het |
| Pgd |
C |
T |
4: 149,245,209 (GRCm39) |
|
probably null |
Het |
| Prl7c1 |
A |
G |
13: 27,957,709 (GRCm39) |
S244P |
possibly damaging |
Het |
| Rpap1 |
G |
T |
2: 119,607,377 (GRCm39) |
|
probably null |
Het |
| Rrp8 |
G |
A |
7: 105,383,325 (GRCm39) |
R314* |
probably null |
Het |
| Smarca4 |
T |
A |
9: 21,590,445 (GRCm39) |
|
probably null |
Het |
| Stambpl1 |
A |
G |
19: 34,211,520 (GRCm39) |
|
probably null |
Het |
| Top2b |
A |
G |
14: 16,416,671 (GRCm38) |
K83E |
probably damaging |
Het |
| Ttc39b |
C |
G |
4: 83,148,730 (GRCm39) |
V560L |
probably benign |
Het |
| Ttn |
A |
T |
2: 76,672,153 (GRCm39) |
|
probably benign |
Het |
| Usp32 |
T |
C |
11: 84,913,107 (GRCm39) |
I934V |
probably benign |
Het |
| Uxs1 |
T |
C |
1: 43,836,410 (GRCm39) |
I122V |
probably damaging |
Het |
| Vmn1r168 |
A |
G |
7: 23,240,944 (GRCm39) |
N267S |
probably benign |
Het |
| Vmn2r16 |
A |
G |
5: 109,488,119 (GRCm39) |
N331D |
probably benign |
Het |
|
| Other mutations in Tmeff2 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00581:Tmeff2
|
APN |
1 |
51,224,609 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL00707:Tmeff2
|
APN |
1 |
51,172,212 (GRCm39) |
splice site |
probably null |
|
|
IGL01096:Tmeff2
|
APN |
1 |
50,969,705 (GRCm39) |
splice site |
probably benign |
|
|
IGL01897:Tmeff2
|
APN |
1 |
51,171,369 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02797:Tmeff2
|
APN |
1 |
50,967,206 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL03245:Tmeff2
|
APN |
1 |
51,220,976 (GRCm39) |
missense |
probably benign |
0.30 |
|
G1Funyon:Tmeff2
|
UTSW |
1 |
51,220,996 (GRCm39) |
missense |
probably benign |
0.00 |
|
R0454:Tmeff2
|
UTSW |
1 |
50,967,234 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
R0975:Tmeff2
|
UTSW |
1 |
50,977,364 (GRCm39) |
splice site |
probably benign |
|
|
R1161:Tmeff2
|
UTSW |
1 |
51,220,946 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1310:Tmeff2
|
UTSW |
1 |
51,220,946 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1457:Tmeff2
|
UTSW |
1 |
51,221,026 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3001:Tmeff2
|
UTSW |
1 |
51,220,994 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3002:Tmeff2
|
UTSW |
1 |
51,220,994 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3424:Tmeff2
|
UTSW |
1 |
51,018,776 (GRCm39) |
intron |
probably benign |
|
|
R4807:Tmeff2
|
UTSW |
1 |
51,018,546 (GRCm39) |
missense |
probably benign |
0.01 |
|
R4923:Tmeff2
|
UTSW |
1 |
50,969,804 (GRCm39) |
missense |
probably benign |
0.29 |
|
R4977:Tmeff2
|
UTSW |
1 |
51,018,715 (GRCm39) |
nonsense |
probably null |
|
|
R5176:Tmeff2
|
UTSW |
1 |
51,110,700 (GRCm39) |
nonsense |
probably null |
|
|
R5220:Tmeff2
|
UTSW |
1 |
51,018,476 (GRCm39) |
missense |
probably benign |
0.01 |
|
R5919:Tmeff2
|
UTSW |
1 |
51,171,311 (GRCm39) |
nonsense |
probably null |
|
|
R5990:Tmeff2
|
UTSW |
1 |
51,018,601 (GRCm39) |
nonsense |
probably null |
|
|
R6358:Tmeff2
|
UTSW |
1 |
51,172,273 (GRCm39) |
nonsense |
probably null |
|
|
R6925:Tmeff2
|
UTSW |
1 |
50,967,180 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R7114:Tmeff2
|
UTSW |
1 |
51,224,404 (GRCm39) |
splice site |
probably null |
|
|
R7163:Tmeff2
|
UTSW |
1 |
50,977,503 (GRCm39) |
critical splice donor site |
probably null |
|
|
R7332:Tmeff2
|
UTSW |
1 |
51,018,599 (GRCm39) |
missense |
unknown |
|
|
R7762:Tmeff2
|
UTSW |
1 |
51,018,575 (GRCm39) |
missense |
probably benign |
0.04 |
|
R8223:Tmeff2
|
UTSW |
1 |
51,172,279 (GRCm39) |
critical splice donor site |
probably null |
|
|
R8260:Tmeff2
|
UTSW |
1 |
50,977,478 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R8301:Tmeff2
|
UTSW |
1 |
51,220,996 (GRCm39) |
missense |
probably benign |
0.00 |
|
R8535:Tmeff2
|
UTSW |
1 |
51,220,985 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8947:Tmeff2
|
UTSW |
1 |
51,220,952 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9043:Tmeff2
|
UTSW |
1 |
51,018,779 (GRCm39) |
missense |
unknown |
|
|
| Predicted Primers |
PCR Primer
(F):5'- TCAACATTTCTCGAACATTGGC -3'
(R):5'- GGTGATGAGCTAGGACTCATG -3'
Sequencing Primer
(F):5'- TTTCTCGAACATTGGCATATAAAATG -3'
(R):5'- TGATGAGCTAGGACTCATGGAGAAG -3'
|
| Posted On |
2018-04-27 |
Incidental Mutation