Incidental Mutation 'R5477:Tm4sf5'
| ID |
434127 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Tm4sf5
|
| Ensembl Gene |
ENSMUSG00000018919 |
| Gene Name |
transmembrane 4 superfamily member 5 |
| Synonyms |
2010003F10Rik |
| MMRRC Submission |
043038-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.067)
|
| Stock # |
R5477 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
11 |
| Chromosomal Location |
70396100-70402009 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to T
at 70401174 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Isoleucine
at position 130
(T130I)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000019063
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000019063]
[ENSMUST00000021179]
|
| AlphaFold |
Q91XF2 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000019063
AA Change: T130I
PolyPhen 2
Score 0.021 (Sensitivity: 0.95; Specificity: 0.80)
|
| SMART Domains |
Protein: ENSMUSP00000019063
Gene: ENSMUSG00000018919
AA Change: T130I
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:L6_membrane
|
1 |
189 |
3.8e-72 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000021179
|
| SMART Domains |
Protein: ENSMUSP00000021179
Gene: ENSMUSG00000020830
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
21 |
N/A |
INTRINSIC |
|
Pfam:VOMI
|
35 |
199 |
6.2e-64 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000141924
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000179986
|
| Coding Region Coverage |
- 1x: 98.3%
- 3x: 97.3%
- 10x: 95.3%
- 20x: 90.9%
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is a member of the transmembrane 4 superfamily, also known as the tetraspanin family. Most of these members are cell-surface proteins that are characterized by the presence of four hydrophobic domains. The proteins mediate signal transduction events that play a role in the regulation of cell development, activation, growth and motility. This encoded protein is a cell surface glycoprotein and is highly similar in sequence and structure to transmembrane 4 superfamily member 1. It may play a role in cell proliferation, and overexpression of this protein may be associated with the uncontrolled growth of tumour cells. [provided by RefSeq, Jul 2008]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 34 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4930505A04Rik |
C |
T |
11: 30,376,349 (GRCm39) |
V173M |
probably damaging |
Het |
| Aacs |
T |
C |
5: 125,588,984 (GRCm39) |
Y421H |
probably damaging |
Het |
| Abca13 |
A |
G |
11: 9,251,298 (GRCm39) |
K2890R |
possibly damaging |
Het |
| Aff4 |
T |
A |
11: 53,299,299 (GRCm39) |
|
probably null |
Het |
| Brd10 |
A |
G |
19: 29,731,518 (GRCm39) |
V498A |
probably benign |
Het |
| Cntn4 |
A |
T |
6: 106,650,911 (GRCm39) |
Q698L |
possibly damaging |
Het |
| D5Ertd579e |
G |
T |
5: 36,772,601 (GRCm39) |
S598Y |
probably damaging |
Het |
| Dmrt1 |
A |
G |
19: 25,487,164 (GRCm39) |
M157V |
probably benign |
Het |
| Dnah2 |
C |
T |
11: 69,349,746 (GRCm39) |
R2399Q |
probably benign |
Het |
| Gm10521 |
T |
A |
1: 171,724,067 (GRCm39) |
M126K |
unknown |
Het |
| Hs2st1 |
A |
G |
3: 144,262,709 (GRCm39) |
|
probably benign |
Het |
| Lats2 |
T |
C |
14: 57,937,010 (GRCm39) |
D113G |
probably benign |
Het |
| Myo15a |
A |
C |
11: 60,368,503 (GRCm39) |
D421A |
probably damaging |
Het |
| Or5k15 |
T |
A |
16: 58,710,107 (GRCm39) |
I159F |
probably benign |
Het |
| Or5k17 |
A |
T |
16: 58,746,393 (GRCm39) |
D180E |
possibly damaging |
Het |
| Or6z6 |
T |
C |
7: 6,491,570 (GRCm39) |
Y94C |
probably benign |
Het |
| Pappa2 |
T |
A |
1: 158,784,308 (GRCm39) |
D234V |
probably benign |
Het |
| Parl |
G |
T |
16: 20,098,824 (GRCm39) |
T311K |
possibly damaging |
Het |
| Pias3 |
G |
A |
3: 96,612,319 (GRCm39) |
R557H |
probably damaging |
Het |
| Pskh1 |
C |
T |
8: 106,656,511 (GRCm39) |
R396C |
probably damaging |
Het |
| Rc3h2 |
T |
C |
2: 37,289,642 (GRCm39) |
D390G |
possibly damaging |
Het |
| Ryr2 |
G |
T |
13: 11,720,542 (GRCm39) |
P2702Q |
probably damaging |
Het |
| Senp6 |
C |
A |
9: 80,051,125 (GRCm39) |
A961D |
probably damaging |
Het |
| Slc27a3 |
A |
G |
3: 90,294,146 (GRCm39) |
S503P |
probably benign |
Het |
| Slc39a12 |
T |
C |
2: 14,394,193 (GRCm39) |
V21A |
possibly damaging |
Het |
| Sox7 |
A |
G |
14: 64,185,945 (GRCm39) |
Y327C |
probably damaging |
Het |
| Spdl1 |
A |
T |
11: 34,713,037 (GRCm39) |
F288I |
possibly damaging |
Het |
| Ssbp2 |
T |
A |
13: 91,812,244 (GRCm39) |
M127K |
probably damaging |
Het |
| Sspo |
A |
C |
6: 48,475,327 (GRCm39) |
S5032R |
possibly damaging |
Het |
| Sycp1 |
A |
T |
3: 102,726,206 (GRCm39) |
W973R |
probably damaging |
Het |
| Top2a |
T |
A |
11: 98,907,306 (GRCm39) |
K175* |
probably null |
Het |
| Trim30d |
T |
A |
7: 104,121,347 (GRCm39) |
Y316F |
probably damaging |
Het |
| Vmn1r124 |
G |
A |
7: 20,993,653 (GRCm39) |
P297L |
probably damaging |
Het |
| Zfp715 |
T |
C |
7: 42,949,378 (GRCm39) |
Y194C |
probably damaging |
Het |
|
| Other mutations in Tm4sf5 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL02725:Tm4sf5
|
APN |
11 |
70,401,448 (GRCm39) |
missense |
probably benign |
|
|
IGL03107:Tm4sf5
|
APN |
11 |
70,396,223 (GRCm39) |
missense |
possibly damaging |
0.57 |
|
IGL03161:Tm4sf5
|
APN |
11 |
70,401,098 (GRCm39) |
missense |
probably benign |
0.06 |
|
H8562:Tm4sf5
|
UTSW |
11 |
70,396,338 (GRCm39) |
splice site |
probably benign |
|
|
R0009:Tm4sf5
|
UTSW |
11 |
70,401,538 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0009:Tm4sf5
|
UTSW |
11 |
70,401,538 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0269:Tm4sf5
|
UTSW |
11 |
70,401,495 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0315:Tm4sf5
|
UTSW |
11 |
70,401,462 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R0617:Tm4sf5
|
UTSW |
11 |
70,401,495 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9418:Tm4sf5
|
UTSW |
11 |
70,401,134 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Z1176:Tm4sf5
|
UTSW |
11 |
70,396,271 (GRCm39) |
missense |
probably benign |
|
|
| Predicted Primers |
PCR Primer
(F):5'- AAATGTATTTTCAGGCAGGCTGAG -3'
(R):5'- CTTACACAGCAGGCTCTACC -3'
Sequencing Primer
(F):5'- CTGTCTGAGGGAGGAGGC -3'
(R):5'- GGCTCTACCACCAACCAGTG -3'
|
| Posted On |
2016-10-06 |
Incidental Mutation