Incidental Mutation 'R6465:Tm9sf2'
| ID |
517793 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Tm9sf2
|
| Ensembl Gene |
ENSMUSG00000025544 |
| Gene Name |
transmembrane 9 superfamily member 2 |
| Synonyms |
1500001N15Rik, P76, D14Ertd64e |
| MMRRC Submission |
044598-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.861)
|
| Stock # |
R6465 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
14 |
| Chromosomal Location |
122344450-122397016 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 122378619 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Histidine to Arginine
at position 241
(H241R)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000026624
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000026624]
[ENSMUST00000170007]
[ENSMUST00000171318]
|
| AlphaFold |
P58021 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000026624
AA Change: H241R
PolyPhen 2
Score 0.159 (Sensitivity: 0.92; Specificity: 0.87)
|
| SMART Domains |
Protein: ENSMUSP00000026624
Gene: ENSMUSG00000025544
AA Change: H241R
| 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 |
|
| Meta Mutation Damage Score |
0.1790 |
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.6%
- 10x: 97.8%
- 20x: 93.1%
|
| Validation Efficiency |
95% (40/42) |
| 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: 41 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| A2ml1 |
G |
A |
6: 128,518,041 (GRCm39) |
T1415I |
probably damaging |
Het |
| Acvr2b |
T |
A |
9: 119,262,369 (GRCm39) |
W461R |
probably damaging |
Het |
| Adam23 |
G |
T |
1: 63,605,827 (GRCm39) |
C637F |
probably damaging |
Het |
| Apol8 |
T |
G |
15: 77,634,148 (GRCm39) |
T143P |
probably benign |
Het |
| Bfsp1 |
A |
C |
2: 143,699,975 (GRCm39) |
|
probably null |
Het |
| Cytl1 |
T |
C |
5: 37,895,014 (GRCm39) |
V99A |
probably benign |
Het |
| Dock2 |
A |
T |
11: 34,453,413 (GRCm39) |
V793E |
probably damaging |
Het |
| Fxyd5 |
G |
T |
7: 30,737,305 (GRCm39) |
T81K |
probably damaging |
Het |
| Gcm1 |
A |
G |
9: 77,972,151 (GRCm39) |
Y364C |
probably damaging |
Het |
| Get3 |
A |
T |
8: 85,745,194 (GRCm39) |
M291K |
probably benign |
Het |
| Haghl |
T |
C |
17: 26,002,793 (GRCm39) |
N190S |
possibly damaging |
Het |
| Inpp5j |
C |
A |
11: 3,452,293 (GRCm39) |
R319L |
possibly damaging |
Het |
| Ints10 |
A |
G |
8: 69,260,188 (GRCm39) |
N304S |
probably benign |
Het |
| Isoc1 |
T |
A |
18: 58,804,328 (GRCm39) |
C119S |
probably damaging |
Het |
| Klhl18 |
A |
G |
9: 110,257,988 (GRCm39) |
M414T |
probably benign |
Het |
| Krtap2-4 |
A |
G |
11: 99,505,585 (GRCm39) |
|
probably benign |
Het |
| Krtap3-1 |
G |
A |
11: 99,457,277 (GRCm39) |
P45S |
possibly damaging |
Het |
| Mroh2a |
GCCC |
GC |
1: 88,159,979 (GRCm39) |
|
probably null |
Het |
| Myo7a |
A |
G |
7: 97,711,887 (GRCm39) |
V1754A |
possibly damaging |
Het |
| Nedd4l |
T |
A |
18: 65,288,335 (GRCm39) |
D119E |
probably benign |
Het |
| Nsun7 |
T |
C |
5: 66,452,929 (GRCm39) |
V548A |
probably benign |
Het |
| Or5m12 |
A |
T |
2: 85,734,883 (GRCm39) |
S172T |
probably benign |
Het |
| Or6b6 |
A |
T |
7: 106,571,419 (GRCm39) |
V44E |
possibly damaging |
Het |
| Parvg |
A |
G |
15: 84,213,141 (GRCm39) |
D127G |
probably damaging |
Het |
| Pate13 |
A |
T |
9: 35,819,921 (GRCm39) |
N25Y |
possibly damaging |
Het |
| Piezo2 |
T |
A |
18: 63,174,734 (GRCm39) |
M2007L |
possibly damaging |
Het |
| Pou2f3 |
A |
C |
9: 43,051,162 (GRCm39) |
F175V |
probably damaging |
Het |
| Ptprn2 |
T |
C |
12: 117,233,209 (GRCm39) |
I958T |
probably damaging |
Het |
| Pwwp2b |
T |
C |
7: 138,835,951 (GRCm39) |
V464A |
probably benign |
Het |
| Pzp |
A |
G |
6: 128,468,582 (GRCm39) |
Y982H |
probably damaging |
Het |
| Rad17 |
T |
A |
13: 100,773,588 (GRCm39) |
N202I |
probably benign |
Het |
| Rtel1 |
T |
A |
2: 180,977,733 (GRCm39) |
D271E |
possibly damaging |
Het |
| Sos2 |
T |
C |
12: 69,643,549 (GRCm39) |
S943G |
probably benign |
Het |
| Tdpoz6 |
A |
G |
3: 93,600,303 (GRCm39) |
I22T |
probably damaging |
Het |
| Ttc8 |
A |
G |
12: 98,930,829 (GRCm39) |
E291G |
probably damaging |
Het |
| Unc93a2 |
G |
T |
17: 7,641,842 (GRCm39) |
T202K |
probably damaging |
Het |
| Wfikkn1 |
A |
G |
17: 26,097,692 (GRCm39) |
C211R |
probably damaging |
Het |
| Ylpm1 |
T |
A |
12: 85,096,576 (GRCm39) |
D1219E |
probably damaging |
Het |
| Zc3hav1 |
T |
C |
6: 38,308,784 (GRCm39) |
Y586C |
possibly damaging |
Het |
| Zcchc4 |
T |
A |
5: 52,976,618 (GRCm39) |
F471I |
probably benign |
Het |
| Zfp719 |
C |
A |
7: 43,240,108 (GRCm39) |
Y565* |
probably null |
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 |
|
IGL03231:Tm9sf2
|
APN |
14 |
122,378,664 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
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 |
|
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- CCACACAGAGTCAGATTTGAGAC -3'
(R):5'- CGGTTGTAACACACGAAGCAC -3'
Sequencing Primer
(F):5'- CAGAGTCAGATTTGAGACAAATTTTG -3'
(R):5'- CACCTCGATTACGACTTAGTTTTAGG -3'
|
| Posted On |
2018-05-21 |
Incidental Mutation