Incidental Mutation 'R1306:Tm4sf19'
| ID |
157811 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Tm4sf19
|
| Ensembl Gene |
ENSMUSG00000079625 |
| Gene Name |
transmembrane 4 L six family member 19 |
| Synonyms |
EG277203 |
| MMRRC Submission |
039372-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.072)
|
| Stock # |
R1306 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
16 |
| Chromosomal Location |
32219324-32227045 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to A
at 32226720 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Methionine
at position 170
(V170M)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000110802
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000115149]
|
| AlphaFold |
E9Q9H8 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000115149
AA Change: V170M
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000110802
Gene: ENSMUSG00000079625
AA Change: V170M
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:L6_membrane
|
9 |
204 |
1.1e-57 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000194813
|
| Coding Region Coverage |
- 1x: 98.8%
- 3x: 97.9%
- 10x: 95.1%
- 20x: 89.8%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 23 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Alpk3 |
T |
A |
7: 80,743,621 (GRCm39) |
L1146H |
probably damaging |
Het |
| Atad2b |
A |
G |
12: 5,024,239 (GRCm39) |
I121M |
probably benign |
Het |
| Atg2a |
A |
T |
19: 6,303,051 (GRCm39) |
T1053S |
probably benign |
Het |
| Bend5 |
C |
T |
4: 111,316,970 (GRCm39) |
Q127* |
probably null |
Het |
| Ccser1 |
G |
A |
6: 62,357,090 (GRCm39) |
D843N |
probably damaging |
Het |
| Dennd4b |
A |
G |
3: 90,178,472 (GRCm39) |
T512A |
probably benign |
Het |
| Dnmbp |
A |
T |
19: 43,890,218 (GRCm39) |
D516E |
probably benign |
Het |
| Dok3 |
C |
A |
13: 55,675,261 (GRCm39) |
E86* |
probably null |
Het |
| Fat3 |
A |
G |
9: 16,287,975 (GRCm39) |
I516T |
probably damaging |
Het |
| Gabbr1 |
T |
A |
17: 37,366,882 (GRCm39) |
|
probably null |
Het |
| Gjd2 |
T |
C |
2: 113,842,346 (GRCm39) |
T44A |
probably damaging |
Het |
| Mcm7 |
C |
A |
5: 138,165,465 (GRCm39) |
A480S |
probably damaging |
Het |
| Meox2 |
GCACCACCACCACCACCACCA |
GCACCACCACCACCACCA |
12: 37,159,030 (GRCm39) |
|
probably benign |
Het |
| Ntn4 |
C |
T |
10: 93,543,215 (GRCm39) |
R314W |
probably damaging |
Het |
| Pdzph1 |
T |
C |
17: 59,239,427 (GRCm39) |
H967R |
possibly damaging |
Het |
| Pik3c2g |
A |
G |
6: 139,718,154 (GRCm39) |
N227S |
probably benign |
Het |
| Pkd1 |
T |
C |
17: 24,792,146 (GRCm39) |
S1278P |
probably damaging |
Het |
| Plch2 |
T |
C |
4: 155,091,597 (GRCm39) |
E71G |
probably damaging |
Het |
| Pnma8a |
A |
G |
7: 16,695,950 (GRCm39) |
R428G |
probably benign |
Het |
| Sertad2 |
T |
C |
11: 20,598,388 (GRCm39) |
S195P |
probably benign |
Het |
| Slc19a3 |
A |
G |
1: 83,000,483 (GRCm39) |
L178S |
probably damaging |
Het |
| Smarca2 |
A |
G |
19: 26,748,388 (GRCm39) |
D139G |
possibly damaging |
Het |
| Vwa3a |
C |
G |
7: 120,399,613 (GRCm39) |
S1031R |
possibly damaging |
Het |
|
| Other mutations in Tm4sf19 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01094:Tm4sf19
|
APN |
16 |
32,224,772 (GRCm39) |
missense |
possibly damaging |
0.63 |
|
IGL02468:Tm4sf19
|
APN |
16 |
32,226,533 (GRCm39) |
splice site |
probably benign |
|
|
IGL02573:Tm4sf19
|
APN |
16 |
32,226,678 (GRCm39) |
missense |
possibly damaging |
0.88 |
|
IGL02938:Tm4sf19
|
APN |
16 |
32,224,733 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R1450:Tm4sf19
|
UTSW |
16 |
32,226,781 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1522:Tm4sf19
|
UTSW |
16 |
32,224,820 (GRCm39) |
missense |
possibly damaging |
0.61 |
|
R1895:Tm4sf19
|
UTSW |
16 |
32,226,500 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4407:Tm4sf19
|
UTSW |
16 |
32,226,712 (GRCm39) |
missense |
possibly damaging |
0.77 |
|
R5527:Tm4sf19
|
UTSW |
16 |
32,226,739 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6166:Tm4sf19
|
UTSW |
16 |
32,226,681 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6949:Tm4sf19
|
UTSW |
16 |
32,224,676 (GRCm39) |
missense |
probably benign |
0.01 |
|
R7269:Tm4sf19
|
UTSW |
16 |
32,224,814 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R7316:Tm4sf19
|
UTSW |
16 |
32,226,466 (GRCm39) |
missense |
possibly damaging |
0.82 |
|
R7993:Tm4sf19
|
UTSW |
16 |
32,226,458 (GRCm39) |
missense |
possibly damaging |
0.90 |
|
Z1177:Tm4sf19
|
UTSW |
16 |
32,224,741 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- CTCATAAGCCCAGTCCCGTGATTTG -3'
(R):5'- CAGCATGACTTTGTTGCTGTGAGC -3'
Sequencing Primer
(F):5'- CCGTGATTTGGGCCAGGAG -3'
(R):5'- AAGGGGATTCACAGCCTATTC -3'
|
| Posted On |
2014-02-18 |
Incidental Mutation