Incidental Mutation 'R3844:Tm9sf3'
ID |
277303 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Tm9sf3
|
Ensembl Gene |
ENSMUSG00000025016 |
Gene Name |
transmembrane 9 superfamily member 3 |
Synonyms |
2810031D16Rik, 1810073M23Rik, Smbp |
Accession Numbers |
|
Essential gene? |
Essential
(E-score: 1.000)
|
Stock # |
R3844 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
19 |
Chromosomal Location |
41199283-41252436 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to T
at 41205555 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Leucine to Methionine
at position 561
(L561M)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000025989
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000025989]
|
AlphaFold |
Q9ET30 |
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000025989
AA Change: L561M
PolyPhen 2
Score 0.953 (Sensitivity: 0.79; Specificity: 0.95)
|
SMART Domains |
Protein: ENSMUSP00000025989 Gene: ENSMUSG00000025016 AA Change: L561M
Domain | Start | End | E-Value | Type |
signal peptide
|
1 |
26 |
N/A |
INTRINSIC |
Pfam:EMP70
|
55 |
544 |
6.2e-164 |
PFAM |
transmembrane domain
|
549 |
571 |
N/A |
INTRINSIC |
|
Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.8%
- 10x: 97.5%
- 20x: 95.6%
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 37 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
A730071L15Rik |
A |
T |
11: 6,150,032 (GRCm39) |
R2* |
probably null |
Het |
Acaca |
T |
A |
11: 84,255,239 (GRCm39) |
D1932E |
probably damaging |
Het |
Adam5 |
T |
A |
8: 25,303,426 (GRCm39) |
D167V |
probably benign |
Het |
Amt |
C |
T |
9: 108,174,420 (GRCm39) |
R62C |
possibly damaging |
Het |
Aqp11 |
T |
A |
7: 97,387,046 (GRCm39) |
E50V |
probably damaging |
Het |
Arid4b |
C |
T |
13: 14,361,645 (GRCm39) |
S703L |
probably damaging |
Het |
Ccl25 |
T |
G |
8: 4,404,183 (GRCm39) |
V179G |
possibly damaging |
Het |
Clk2 |
A |
G |
3: 89,077,710 (GRCm39) |
N222S |
probably benign |
Het |
Col13a1 |
C |
T |
10: 61,685,988 (GRCm39) |
G668D |
unknown |
Het |
Col20a1 |
A |
G |
2: 180,634,242 (GRCm39) |
E69G |
probably damaging |
Het |
Dcc |
G |
A |
18: 71,959,257 (GRCm39) |
H172Y |
probably benign |
Het |
Dock8 |
T |
G |
19: 25,042,794 (GRCm39) |
Y125* |
probably null |
Het |
E2f1 |
A |
G |
2: 154,402,748 (GRCm39) |
S340P |
probably benign |
Het |
Fars2 |
T |
C |
13: 36,389,084 (GRCm39) |
F191S |
probably damaging |
Het |
Filip1l |
T |
C |
16: 57,392,790 (GRCm39) |
V888A |
probably benign |
Het |
Fn1 |
T |
A |
1: 71,648,733 (GRCm39) |
H1392L |
possibly damaging |
Het |
Fsip2 |
C |
T |
2: 82,819,950 (GRCm39) |
H5228Y |
possibly damaging |
Het |
Galnt14 |
A |
G |
17: 74,016,924 (GRCm39) |
|
probably null |
Het |
Grm8 |
A |
T |
6: 27,429,507 (GRCm39) |
N462K |
possibly damaging |
Het |
Ireb2 |
A |
G |
9: 54,799,789 (GRCm39) |
E410G |
probably damaging |
Het |
Kdm2b |
A |
T |
5: 123,072,856 (GRCm39) |
Y341N |
probably damaging |
Het |
Kdm7a |
T |
A |
6: 39,158,513 (GRCm39) |
I77F |
probably damaging |
Het |
Klhl11 |
A |
T |
11: 100,363,133 (GRCm39) |
M141K |
possibly damaging |
Het |
Lactbl1 |
A |
G |
4: 136,365,271 (GRCm39) |
H541R |
possibly damaging |
Het |
Mylk |
A |
G |
16: 34,742,247 (GRCm39) |
M920V |
probably benign |
Het |
Or2w1b |
A |
G |
13: 21,300,233 (GRCm39) |
T124A |
possibly damaging |
Het |
Piwil4 |
T |
A |
9: 14,641,256 (GRCm39) |
T179S |
possibly damaging |
Het |
Ranbp2 |
T |
C |
10: 58,313,717 (GRCm39) |
L1479P |
possibly damaging |
Het |
Rpl3l |
A |
G |
17: 24,952,916 (GRCm39) |
H292R |
probably benign |
Het |
Rps6ka4 |
C |
A |
19: 6,815,171 (GRCm39) |
E202* |
probably null |
Het |
Rsph14 |
T |
C |
10: 74,867,107 (GRCm39) |
D13G |
possibly damaging |
Het |
Sri |
A |
G |
5: 8,114,576 (GRCm39) |
D177G |
probably damaging |
Het |
Tenm2 |
A |
G |
11: 35,938,365 (GRCm39) |
V1437A |
probably damaging |
Het |
Tiam2 |
A |
G |
17: 3,471,926 (GRCm39) |
R523G |
probably damaging |
Het |
Tnrc6c |
G |
T |
11: 117,646,309 (GRCm39) |
D1417Y |
probably damaging |
Het |
Ubr4 |
C |
T |
4: 139,186,437 (GRCm39) |
S648L |
probably damaging |
Het |
Zfp827 |
T |
A |
8: 79,863,248 (GRCm39) |
L69Q |
probably damaging |
Het |
|
Other mutations in Tm9sf3 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL01395:Tm9sf3
|
APN |
19 |
41,244,715 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02176:Tm9sf3
|
APN |
19 |
41,235,076 (GRCm39) |
splice site |
probably benign |
|
PIT4687001:Tm9sf3
|
UTSW |
19 |
41,206,630 (GRCm39) |
missense |
probably damaging |
1.00 |
R0504:Tm9sf3
|
UTSW |
19 |
41,236,331 (GRCm39) |
splice site |
probably benign |
|
R0564:Tm9sf3
|
UTSW |
19 |
41,233,964 (GRCm39) |
splice site |
probably benign |
|
R0586:Tm9sf3
|
UTSW |
19 |
41,244,582 (GRCm39) |
critical splice donor site |
probably null |
|
R1224:Tm9sf3
|
UTSW |
19 |
41,211,634 (GRCm39) |
missense |
probably damaging |
1.00 |
R1533:Tm9sf3
|
UTSW |
19 |
41,227,223 (GRCm39) |
missense |
probably benign |
0.00 |
R1646:Tm9sf3
|
UTSW |
19 |
41,211,618 (GRCm39) |
missense |
possibly damaging |
0.79 |
R1748:Tm9sf3
|
UTSW |
19 |
41,244,668 (GRCm39) |
missense |
probably benign |
0.01 |
R2022:Tm9sf3
|
UTSW |
19 |
41,227,231 (GRCm39) |
missense |
probably damaging |
1.00 |
R2172:Tm9sf3
|
UTSW |
19 |
41,205,859 (GRCm39) |
missense |
probably damaging |
1.00 |
R3878:Tm9sf3
|
UTSW |
19 |
41,235,152 (GRCm39) |
missense |
probably damaging |
0.98 |
R4384:Tm9sf3
|
UTSW |
19 |
41,236,372 (GRCm39) |
missense |
probably damaging |
1.00 |
R4385:Tm9sf3
|
UTSW |
19 |
41,236,372 (GRCm39) |
missense |
probably damaging |
1.00 |
R4582:Tm9sf3
|
UTSW |
19 |
41,244,605 (GRCm39) |
missense |
probably damaging |
1.00 |
R5497:Tm9sf3
|
UTSW |
19 |
41,203,555 (GRCm39) |
missense |
probably benign |
0.03 |
R5876:Tm9sf3
|
UTSW |
19 |
41,229,023 (GRCm39) |
missense |
probably damaging |
1.00 |
R6305:Tm9sf3
|
UTSW |
19 |
41,233,881 (GRCm39) |
critical splice donor site |
probably null |
|
R6924:Tm9sf3
|
UTSW |
19 |
41,206,717 (GRCm39) |
missense |
probably damaging |
1.00 |
R6936:Tm9sf3
|
UTSW |
19 |
41,211,638 (GRCm39) |
missense |
probably benign |
0.44 |
R7121:Tm9sf3
|
UTSW |
19 |
41,233,944 (GRCm39) |
nonsense |
probably null |
|
R7287:Tm9sf3
|
UTSW |
19 |
41,205,818 (GRCm39) |
missense |
probably damaging |
1.00 |
R7303:Tm9sf3
|
UTSW |
19 |
41,227,198 (GRCm39) |
missense |
probably damaging |
0.97 |
R7677:Tm9sf3
|
UTSW |
19 |
41,209,743 (GRCm39) |
missense |
probably damaging |
1.00 |
R8212:Tm9sf3
|
UTSW |
19 |
41,229,074 (GRCm39) |
missense |
probably damaging |
0.99 |
R8220:Tm9sf3
|
UTSW |
19 |
41,203,526 (GRCm39) |
missense |
possibly damaging |
0.80 |
R8715:Tm9sf3
|
UTSW |
19 |
41,244,724 (GRCm39) |
missense |
probably damaging |
1.00 |
X0026:Tm9sf3
|
UTSW |
19 |
41,235,202 (GRCm39) |
nonsense |
probably null |
|
X0026:Tm9sf3
|
UTSW |
19 |
41,235,201 (GRCm39) |
missense |
possibly damaging |
0.91 |
Z1088:Tm9sf3
|
UTSW |
19 |
41,220,817 (GRCm39) |
missense |
probably damaging |
1.00 |
Z1176:Tm9sf3
|
UTSW |
19 |
41,227,248 (GRCm39) |
missense |
probably damaging |
1.00 |
Z1177:Tm9sf3
|
UTSW |
19 |
41,233,884 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Predicted Primers |
PCR Primer
(F):5'- ACCAGATTTTAAGGGAGTCAAACTC -3'
(R):5'- CGCGATCTACGTTTACATGTACTC -3'
Sequencing Primer
(F):5'- TGGTGTTCCTGATAAAGCAAAAG -3'
(R):5'- CTTCTTCAAAACCAAGTGAGTGAGTG -3'
|
Posted On |
2015-04-06 |