Incidental Mutation 'IGL03231:Tm9sf2'
| ID |
413887 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Tm9sf2
|
| Ensembl Gene |
ENSMUSG00000025544 |
| Gene Name |
transmembrane 9 superfamily member 2 |
| Synonyms |
1500001N15Rik, P76, D14Ertd64e |
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.881)
|
| Stock # |
IGL03231
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
14 |
| Chromosomal Location |
122344450-122397016 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to G
at 122378664 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Arginine
at position 256
(I256R)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000026624
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000026624]
[ENSMUST00000170007]
[ENSMUST00000171318]
|
| AlphaFold |
P58021 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000026624
AA Change: I256R
PolyPhen 2
Score 0.948 (Sensitivity: 0.79; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000026624
Gene: ENSMUSG00000025544
AA Change: I256R
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
35 |
N/A |
INTRINSIC |
|
Pfam:EMP70
|
74 |
619 |
4.5e-209 |
PFAM |
|
transmembrane domain
|
630 |
652 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000170007
|
| SMART Domains |
Protein: ENSMUSP00000128894
Gene: ENSMUSG00000025544
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
35 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000171318
|
| SMART Domains |
Protein: ENSMUSP00000131227
Gene: ENSMUSG00000025544
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
35 |
N/A |
INTRINSIC |
|
Pfam:EMP70
|
73 |
112 |
5.9e-9 |
PFAM |
|
Pfam:EMP70
|
109 |
455 |
1e-172 |
PFAM |
|
transmembrane domain
|
465 |
487 |
N/A |
INTRINSIC |
|
| Coding Region Coverage |
|
| 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 transmembrane 9 superfamily. The encoded 76 kDa protein localizes to early endosomes in human cells. The encoded protein possesses a conserved and highly hydrophobic C-terminal domain which contains nine transmembrane domains. The protein may play a role in small molecule transport or act as an ion channel. A pseudogene associated with this gene is located on the X chromosome. [provided by RefSeq, Oct 2012]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 38 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca9 |
A |
C |
11: 110,046,094 (GRCm39) |
F277V |
probably damaging |
Het |
| Arel1 |
T |
A |
12: 84,981,084 (GRCm39) |
T308S |
probably benign |
Het |
| Asic1 |
T |
A |
15: 99,596,983 (GRCm39) |
H548Q |
probably benign |
Het |
| B3galt1 |
T |
C |
2: 67,948,947 (GRCm39) |
Y221H |
probably damaging |
Het |
| Bltp2 |
A |
G |
11: 78,159,528 (GRCm39) |
T526A |
probably benign |
Het |
| Brs3 |
G |
T |
X: 56,090,804 (GRCm39) |
C221F |
probably benign |
Het |
| Capn7 |
G |
A |
14: 31,077,247 (GRCm39) |
G322R |
probably damaging |
Het |
| Ccdc138 |
T |
C |
10: 58,409,528 (GRCm39) |
L619P |
probably damaging |
Het |
| Cdh22 |
C |
T |
2: 164,958,126 (GRCm39) |
V614I |
probably benign |
Het |
| Dnah5 |
C |
T |
15: 28,311,294 (GRCm39) |
R1758W |
probably damaging |
Het |
| Dr1 |
T |
C |
5: 108,423,474 (GRCm39) |
V87A |
probably benign |
Het |
| F830045P16Rik |
A |
G |
2: 129,302,393 (GRCm39) |
S400P |
probably damaging |
Het |
| Fcgbpl1 |
A |
G |
7: 27,853,147 (GRCm39) |
E1478G |
possibly damaging |
Het |
| Fyb2 |
T |
A |
4: 104,843,460 (GRCm39) |
Y353* |
probably null |
Het |
| Gm28043 |
A |
G |
17: 29,854,916 (GRCm39) |
D457G |
probably damaging |
Het |
| Gsap |
T |
C |
5: 21,434,164 (GRCm39) |
V260A |
probably damaging |
Het |
| Kcnt2 |
A |
T |
1: 140,461,740 (GRCm39) |
|
probably benign |
Het |
| Magee2 |
A |
T |
X: 103,899,944 (GRCm39) |
L236M |
probably damaging |
Het |
| Map4k3 |
A |
T |
17: 80,905,104 (GRCm39) |
V729E |
probably damaging |
Het |
| Myh13 |
A |
G |
11: 67,242,817 (GRCm39) |
E910G |
possibly damaging |
Het |
| Nbeal1 |
G |
T |
1: 60,275,618 (GRCm39) |
A651S |
probably benign |
Het |
| Nhsl3 |
C |
T |
4: 129,117,474 (GRCm39) |
V385I |
possibly damaging |
Het |
| Nuak2 |
A |
T |
1: 132,255,915 (GRCm39) |
D188V |
probably damaging |
Het |
| Nup210l |
A |
G |
3: 90,096,852 (GRCm39) |
T1354A |
probably damaging |
Het |
| Or10q1 |
A |
T |
19: 13,726,749 (GRCm39) |
Q93L |
probably benign |
Het |
| Pof1b |
C |
T |
X: 111,554,987 (GRCm39) |
S506N |
possibly damaging |
Het |
| Prrt3 |
A |
G |
6: 113,474,485 (GRCm39) |
S246P |
possibly damaging |
Het |
| Rps6ka6 |
T |
A |
X: 110,360,018 (GRCm39) |
T43S |
probably benign |
Het |
| Slc19a2 |
G |
T |
1: 164,088,449 (GRCm39) |
W98L |
probably damaging |
Het |
| Snap29 |
C |
T |
16: 17,244,964 (GRCm39) |
S195L |
probably benign |
Het |
| Stt3b |
C |
T |
9: 115,073,062 (GRCm39) |
G815S |
unknown |
Het |
| Tpbpb |
A |
T |
13: 61,049,996 (GRCm39) |
N44K |
probably damaging |
Het |
| Trim13 |
A |
G |
14: 61,842,994 (GRCm39) |
E337G |
probably benign |
Het |
| Trmt6 |
A |
T |
2: 132,657,756 (GRCm39) |
D33E |
probably benign |
Het |
| Trpm6 |
T |
A |
19: 18,796,545 (GRCm39) |
S800R |
probably benign |
Het |
| V1rd19 |
A |
G |
7: 23,703,328 (GRCm39) |
I265V |
probably benign |
Het |
| Xkrx |
A |
G |
X: 133,051,391 (GRCm39) |
L420P |
probably damaging |
Het |
| Zfp618 |
T |
C |
4: 63,012,716 (GRCm39) |
Y167H |
probably damaging |
Het |
|
| Other mutations in Tm9sf2 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01364:Tm9sf2
|
APN |
14 |
122,380,872 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01995:Tm9sf2
|
APN |
14 |
122,380,883 (GRCm39) |
missense |
probably benign |
0.25 |
|
IGL02173:Tm9sf2
|
APN |
14 |
122,380,835 (GRCm39) |
missense |
probably benign |
0.13 |
|
IGL02249:Tm9sf2
|
APN |
14 |
122,361,162 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02328:Tm9sf2
|
APN |
14 |
122,380,842 (GRCm39) |
missense |
possibly damaging |
0.79 |
|
R0367:Tm9sf2
|
UTSW |
14 |
122,392,780 (GRCm39) |
missense |
probably benign |
0.06 |
|
R1959:Tm9sf2
|
UTSW |
14 |
122,363,576 (GRCm39) |
missense |
probably benign |
0.42 |
|
R2251:Tm9sf2
|
UTSW |
14 |
122,377,143 (GRCm39) |
missense |
probably benign |
|
|
R2504:Tm9sf2
|
UTSW |
14 |
122,396,096 (GRCm39) |
missense |
probably benign |
0.01 |
|
R4791:Tm9sf2
|
UTSW |
14 |
122,377,062 (GRCm39) |
missense |
probably benign |
0.00 |
|
R4795:Tm9sf2
|
UTSW |
14 |
122,387,252 (GRCm39) |
splice site |
probably null |
|
|
R4851:Tm9sf2
|
UTSW |
14 |
122,378,616 (GRCm39) |
missense |
probably benign |
0.00 |
|
R5063:Tm9sf2
|
UTSW |
14 |
122,382,558 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5117:Tm9sf2
|
UTSW |
14 |
122,380,913 (GRCm39) |
missense |
probably benign |
0.30 |
|
R5443:Tm9sf2
|
UTSW |
14 |
122,363,607 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R5677:Tm9sf2
|
UTSW |
14 |
122,389,374 (GRCm39) |
critical splice acceptor site |
probably null |
|
|
R5966:Tm9sf2
|
UTSW |
14 |
122,374,921 (GRCm39) |
intron |
probably benign |
|
|
R6465:Tm9sf2
|
UTSW |
14 |
122,378,619 (GRCm39) |
missense |
probably benign |
0.16 |
|
R6873:Tm9sf2
|
UTSW |
14 |
122,382,525 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7403:Tm9sf2
|
UTSW |
14 |
122,378,640 (GRCm39) |
missense |
probably benign |
0.33 |
|
R7531:Tm9sf2
|
UTSW |
14 |
122,379,824 (GRCm39) |
missense |
possibly damaging |
0.49 |
|
R8176:Tm9sf2
|
UTSW |
14 |
122,374,913 (GRCm39) |
missense |
probably benign |
0.01 |
|
R8447:Tm9sf2
|
UTSW |
14 |
122,377,180 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8773:Tm9sf2
|
UTSW |
14 |
122,380,883 (GRCm39) |
missense |
probably benign |
0.21 |
|
R9039:Tm9sf2
|
UTSW |
14 |
122,363,576 (GRCm39) |
missense |
probably benign |
0.42 |
|
| Posted On |
2016-08-02 |
Incidental Mutation