Incidental Mutation 'R5127:Tm4sf1'
| ID |
394809 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Tm4sf1
|
| Ensembl Gene |
ENSMUSG00000027800 |
| Gene Name |
transmembrane 4 superfamily member 1 |
| Synonyms |
M3s1, L6, 12A8 target antigen, L6 antigen |
| MMRRC Submission |
042715-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.094)
|
| Stock # |
R5127 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
3 |
| Chromosomal Location |
57193032-57209409 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to G
at 57200289 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Leucine
at position 109
(I109L)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000143652
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000029376]
[ENSMUST00000171384]
[ENSMUST00000196506]
[ENSMUST00000196979]
|
| AlphaFold |
Q64302 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000029376
AA Change: I109L
PolyPhen 2
Score 0.786 (Sensitivity: 0.85; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000029376
Gene: ENSMUSG00000027800
AA Change: I109L
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:L6_membrane
|
1 |
194 |
6e-77 |
PFAM |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000171384
AA Change: I109L
PolyPhen 2
Score 0.786 (Sensitivity: 0.85; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000130999
Gene: ENSMUSG00000027800
AA Change: I109L
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:L6_membrane
|
1 |
195 |
1.2e-96 |
PFAM |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000196506
AA Change: I109L
PolyPhen 2
Score 0.786 (Sensitivity: 0.85; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000143697
Gene: ENSMUSG00000027800
AA Change: I109L
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:L6_membrane
|
1 |
137 |
3.5e-46 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000196704
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000196979
AA Change: I109L
PolyPhen 2
Score 0.786 (Sensitivity: 0.85; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000143652
Gene: ENSMUSG00000027800
AA Change: I109L
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:L6_membrane
|
1 |
194 |
6e-77 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000198030
|
| Meta Mutation Damage Score |
0.0682 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.5%
- 10x: 96.9%
- 20x: 94.2%
|
| Validation Efficiency |
93% (42/45) |
| 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 antigen and is highly expressed in different carcinomas. [provided by RefSeq, Jul 2008]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 41 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 2610008E11Rik |
T |
C |
10: 78,902,826 (GRCm39) |
K497E |
probably damaging |
Het |
| 4933413J09Rik |
A |
G |
14: 26,097,462 (GRCm39) |
|
noncoding transcript |
Het |
| Aox1 |
A |
T |
1: 58,069,185 (GRCm39) |
I4F |
probably benign |
Het |
| Arhgef5 |
A |
T |
6: 43,250,148 (GRCm39) |
N300Y |
probably damaging |
Het |
| B530045E10Rik |
A |
G |
10: 99,257,983 (GRCm39) |
|
noncoding transcript |
Het |
| Ccnb1 |
C |
G |
13: 100,918,283 (GRCm39) |
Q121H |
possibly damaging |
Het |
| Cdh20 |
A |
G |
1: 104,875,073 (GRCm39) |
E285G |
probably damaging |
Het |
| Cfap54 |
A |
T |
10: 92,722,249 (GRCm39) |
|
probably null |
Het |
| Col6a3 |
A |
G |
1: 90,696,067 (GRCm39) |
C2667R |
unknown |
Het |
| Cts8 |
C |
T |
13: 61,401,149 (GRCm39) |
V126M |
probably damaging |
Het |
| Dag1 |
A |
T |
9: 108,084,771 (GRCm39) |
I790N |
possibly damaging |
Het |
| Ddit4 |
A |
G |
10: 59,786,491 (GRCm39) |
I186T |
probably damaging |
Het |
| Dnajc11 |
T |
A |
4: 152,054,271 (GRCm39) |
|
probably benign |
Het |
| Farsa |
A |
G |
8: 85,595,593 (GRCm39) |
D495G |
probably benign |
Het |
| Gm1527 |
T |
A |
3: 28,957,567 (GRCm39) |
I157N |
probably damaging |
Het |
| Gm5773 |
T |
A |
3: 93,680,735 (GRCm39) |
W136R |
probably benign |
Het |
| Hpse |
C |
A |
5: 100,867,403 (GRCm39) |
A20S |
unknown |
Het |
| Igfn1 |
A |
G |
1: 135,887,634 (GRCm39) |
Y2477H |
probably damaging |
Het |
| Kcnh5 |
A |
G |
12: 74,944,858 (GRCm39) |
V797A |
probably benign |
Het |
| Kptn |
T |
A |
7: 15,859,710 (GRCm39) |
C311* |
probably null |
Het |
| Lpcat2 |
A |
T |
8: 93,635,819 (GRCm39) |
N407I |
possibly damaging |
Het |
| Lrp1 |
T |
A |
10: 127,375,503 (GRCm39) |
|
probably benign |
Het |
| Ovol2 |
C |
T |
2: 144,159,780 (GRCm39) |
C120Y |
probably damaging |
Het |
| Pcdhac2 |
G |
T |
18: 37,277,352 (GRCm39) |
E111* |
probably null |
Het |
| Pknox1 |
C |
T |
17: 31,809,713 (GRCm39) |
P106S |
probably benign |
Het |
| Plet1 |
C |
T |
9: 50,415,595 (GRCm39) |
T155I |
probably benign |
Het |
| Ppfia2 |
A |
G |
10: 106,671,621 (GRCm39) |
K444R |
probably damaging |
Het |
| Prrc2c |
A |
T |
1: 162,525,415 (GRCm39) |
I397N |
unknown |
Het |
| Ranbp1 |
A |
G |
16: 18,065,151 (GRCm39) |
|
probably null |
Het |
| Raver2 |
T |
C |
4: 100,960,182 (GRCm39) |
C221R |
probably damaging |
Het |
| Reps1 |
A |
G |
10: 17,969,628 (GRCm39) |
T244A |
probably benign |
Het |
| Slc22a16 |
G |
A |
10: 40,449,953 (GRCm39) |
V130I |
probably benign |
Het |
| Stmnd1 |
G |
A |
13: 46,453,071 (GRCm39) |
S249N |
probably benign |
Het |
| Styx |
A |
G |
14: 45,610,961 (GRCm39) |
|
probably null |
Het |
| Sult1b1 |
T |
G |
5: 87,669,407 (GRCm39) |
N147T |
probably damaging |
Het |
| Tbc1d2 |
G |
A |
4: 46,633,639 (GRCm39) |
|
probably benign |
Het |
| Ufl1 |
T |
C |
4: 25,256,010 (GRCm39) |
E423G |
probably benign |
Het |
| Unc13c |
T |
C |
9: 73,840,654 (GRCm39) |
I66V |
probably benign |
Het |
| Wfdc10 |
C |
T |
2: 164,499,060 (GRCm39) |
Q57* |
probably null |
Het |
| Zeb1os1 |
T |
C |
18: 5,567,390 (GRCm39) |
|
noncoding transcript |
Het |
| Zfp369 |
A |
T |
13: 65,426,847 (GRCm39) |
|
probably benign |
Het |
|
| Other mutations in Tm4sf1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL02004:Tm4sf1
|
APN |
3 |
57,200,499 (GRCm39) |
missense |
possibly damaging |
0.87 |
|
IGL03247:Tm4sf1
|
APN |
3 |
57,200,436 (GRCm39) |
missense |
possibly damaging |
0.70 |
|
IGL02988:Tm4sf1
|
UTSW |
3 |
57,200,537 (GRCm39) |
splice site |
probably null |
|
|
R0195:Tm4sf1
|
UTSW |
3 |
57,200,480 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1710:Tm4sf1
|
UTSW |
3 |
57,200,304 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4573:Tm4sf1
|
UTSW |
3 |
57,202,206 (GRCm39) |
missense |
possibly damaging |
0.78 |
|
R4801:Tm4sf1
|
UTSW |
3 |
57,202,100 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4802:Tm4sf1
|
UTSW |
3 |
57,202,100 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4917:Tm4sf1
|
UTSW |
3 |
57,200,448 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4918:Tm4sf1
|
UTSW |
3 |
57,200,448 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5670:Tm4sf1
|
UTSW |
3 |
57,200,508 (GRCm39) |
missense |
probably benign |
0.03 |
|
R5946:Tm4sf1
|
UTSW |
3 |
57,200,289 (GRCm39) |
missense |
possibly damaging |
0.79 |
|
R6905:Tm4sf1
|
UTSW |
3 |
57,202,330 (GRCm39) |
start gained |
probably benign |
|
|
R7334:Tm4sf1
|
UTSW |
3 |
57,200,510 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7508:Tm4sf1
|
UTSW |
3 |
57,202,176 (GRCm39) |
missense |
probably benign |
|
|
R8013:Tm4sf1
|
UTSW |
3 |
57,200,319 (GRCm39) |
missense |
probably benign |
0.04 |
|
R8014:Tm4sf1
|
UTSW |
3 |
57,200,319 (GRCm39) |
missense |
probably benign |
0.04 |
|
R8024:Tm4sf1
|
UTSW |
3 |
57,195,186 (GRCm39) |
nonsense |
probably null |
|
|
R9264:Tm4sf1
|
UTSW |
3 |
57,202,031 (GRCm39) |
critical splice donor site |
probably null |
|
|
R9430:Tm4sf1
|
UTSW |
3 |
57,197,214 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- TTCATGACTGCCCATCTAGC -3'
(R):5'- TGCGGCTACGAAAACTACGG -3'
Sequencing Primer
(F):5'- GCCTTACATACTGCATGATTTGG -3'
(R):5'- CTACGAAAACTACGGCAAGCGATG -3'
|
| Posted On |
2016-06-21 |
Incidental Mutation