Incidental Mutation 'R6654:Tmem39b'
ID |
526551 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Tmem39b
|
Ensembl Gene |
ENSMUSG00000053730 |
Gene Name |
transmembrane protein 39b |
Synonyms |
6330509E05Rik |
MMRRC Submission |
044775-MU
|
Accession Numbers |
|
Essential gene? |
Possibly non essential
(E-score: 0.305)
|
Stock # |
R6654 (G1)
|
Quality Score |
225.009 |
Status
|
Validated
|
Chromosome |
4 |
Chromosomal Location |
129570148-129590631 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to T
at 129580619 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Valine to Aspartic acid
at position 291
(V291D)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000099648
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000102588]
[ENSMUST00000125445]
|
AlphaFold |
Q810L4 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000102588
AA Change: V291D
PolyPhen 2
Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
|
SMART Domains |
Protein: ENSMUSP00000099648 Gene: ENSMUSG00000053730 AA Change: V291D
Domain | Start | End | E-Value | Type |
Pfam:Tmp39
|
48 |
478 |
1.6e-207 |
PFAM |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000125445
|
SMART Domains |
Protein: ENSMUSP00000121505 Gene: ENSMUSG00000053730
Domain | Start | End | E-Value | Type |
Pfam:Tmp39
|
46 |
122 |
3.6e-32 |
PFAM |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000184308
|
Meta Mutation Damage Score |
0.8236 |
Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.6%
- 10x: 98.0%
- 20x: 94.0%
|
Validation Efficiency |
97% (35/36) |
Allele List at MGI |
|
Other mutations in this stock |
Total: 35 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Akr1b1 |
C |
T |
6: 34,286,939 (GRCm39) |
V206M |
possibly damaging |
Het |
Armc6 |
T |
C |
8: 70,684,025 (GRCm39) |
E9G |
probably damaging |
Het |
Bhlhe40 |
TG |
TGG |
6: 108,641,818 (GRCm39) |
254 |
probably null |
Het |
Ddc |
A |
T |
11: 11,830,452 (GRCm39) |
I64N |
probably damaging |
Het |
Exd1 |
T |
A |
2: 119,355,198 (GRCm39) |
|
probably null |
Het |
Gm4847 |
C |
A |
1: 166,457,956 (GRCm39) |
G466C |
probably damaging |
Het |
Gm5431 |
T |
C |
11: 48,785,427 (GRCm39) |
D316G |
possibly damaging |
Het |
Gsta4 |
T |
C |
9: 78,116,381 (GRCm39) |
F197L |
probably damaging |
Het |
Irs2 |
A |
G |
8: 11,056,486 (GRCm39) |
Y649H |
probably damaging |
Het |
Kif16b |
T |
C |
2: 142,543,197 (GRCm39) |
|
probably benign |
Het |
Krtap12-1 |
T |
C |
10: 77,556,537 (GRCm39) |
|
probably benign |
Het |
Ktn1 |
G |
A |
14: 47,927,457 (GRCm39) |
S537N |
probably damaging |
Het |
Med12l |
G |
T |
3: 59,169,713 (GRCm39) |
G1626W |
probably damaging |
Het |
Mfng |
T |
A |
15: 78,643,539 (GRCm39) |
T223S |
probably damaging |
Het |
Msh3 |
T |
C |
13: 92,481,550 (GRCm39) |
T321A |
probably benign |
Het |
Myo7b |
T |
C |
18: 32,123,322 (GRCm39) |
I672V |
possibly damaging |
Het |
Nbas |
C |
T |
12: 13,533,875 (GRCm39) |
Q1837* |
probably null |
Het |
Nlrc4 |
G |
A |
17: 74,752,523 (GRCm39) |
A620V |
possibly damaging |
Het |
Nubpl |
T |
A |
12: 52,357,516 (GRCm39) |
V310E |
probably damaging |
Het |
Or4p21 |
T |
G |
2: 88,277,016 (GRCm39) |
T89P |
possibly damaging |
Het |
Or5aq6 |
A |
G |
2: 86,923,394 (GRCm39) |
S116P |
probably benign |
Het |
P2ry12 |
A |
G |
3: 59,125,441 (GRCm39) |
L78P |
probably damaging |
Het |
Pira1 |
A |
T |
7: 3,738,928 (GRCm39) |
S560T |
probably benign |
Het |
Pkd1l3 |
T |
G |
8: 110,350,915 (GRCm39) |
S587A |
probably benign |
Het |
Potefam1 |
T |
A |
2: 111,002,229 (GRCm39) |
M154L |
unknown |
Het |
Prkacb |
A |
G |
3: 146,456,298 (GRCm39) |
V145A |
possibly damaging |
Het |
Rpgrip1l |
T |
C |
8: 91,946,833 (GRCm39) |
E1256G |
probably benign |
Het |
Rsph4a |
A |
G |
10: 33,788,988 (GRCm39) |
Q611R |
probably benign |
Het |
Sorl1 |
T |
C |
9: 41,891,941 (GRCm39) |
D1903G |
possibly damaging |
Het |
Unc79 |
A |
C |
12: 103,045,307 (GRCm39) |
K685Q |
probably damaging |
Het |
Unc79 |
A |
T |
12: 103,045,308 (GRCm39) |
K685I |
probably damaging |
Het |
Vmn2r111 |
T |
C |
17: 22,778,032 (GRCm39) |
N549S |
possibly damaging |
Het |
Vmn2r112 |
G |
T |
17: 22,822,450 (GRCm39) |
S376I |
possibly damaging |
Het |
Zfp850 |
A |
T |
7: 27,684,640 (GRCm39) |
C35* |
probably null |
Het |
Zfp974 |
A |
G |
7: 27,625,828 (GRCm39) |
V14A |
probably damaging |
Het |
|
Other mutations in Tmem39b |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL02215:Tmem39b
|
APN |
4 |
129,586,311 (GRCm39) |
critical splice acceptor site |
probably null |
|
IGL02423:Tmem39b
|
APN |
4 |
129,572,442 (GRCm39) |
missense |
probably damaging |
1.00 |
PIT4514001:Tmem39b
|
UTSW |
4 |
129,578,290 (GRCm39) |
missense |
possibly damaging |
0.48 |
R0502:Tmem39b
|
UTSW |
4 |
129,580,779 (GRCm39) |
missense |
possibly damaging |
0.95 |
R0503:Tmem39b
|
UTSW |
4 |
129,580,779 (GRCm39) |
missense |
possibly damaging |
0.95 |
R1483:Tmem39b
|
UTSW |
4 |
129,570,456 (GRCm39) |
missense |
probably damaging |
1.00 |
R1522:Tmem39b
|
UTSW |
4 |
129,578,275 (GRCm39) |
missense |
probably benign |
0.30 |
R1612:Tmem39b
|
UTSW |
4 |
129,580,715 (GRCm39) |
missense |
possibly damaging |
0.70 |
R1751:Tmem39b
|
UTSW |
4 |
129,586,976 (GRCm39) |
missense |
possibly damaging |
0.95 |
R1767:Tmem39b
|
UTSW |
4 |
129,586,976 (GRCm39) |
missense |
possibly damaging |
0.95 |
R1771:Tmem39b
|
UTSW |
4 |
129,587,011 (GRCm39) |
missense |
probably damaging |
0.99 |
R2140:Tmem39b
|
UTSW |
4 |
129,572,481 (GRCm39) |
missense |
probably benign |
0.30 |
R2202:Tmem39b
|
UTSW |
4 |
129,587,716 (GRCm39) |
missense |
probably benign |
0.03 |
R2204:Tmem39b
|
UTSW |
4 |
129,587,716 (GRCm39) |
missense |
probably benign |
0.03 |
R2205:Tmem39b
|
UTSW |
4 |
129,587,716 (GRCm39) |
missense |
probably benign |
0.03 |
R6176:Tmem39b
|
UTSW |
4 |
129,586,894 (GRCm39) |
missense |
probably damaging |
1.00 |
R6247:Tmem39b
|
UTSW |
4 |
129,580,584 (GRCm39) |
missense |
possibly damaging |
0.69 |
R6551:Tmem39b
|
UTSW |
4 |
129,585,896 (GRCm39) |
missense |
probably benign |
|
R6934:Tmem39b
|
UTSW |
4 |
129,572,366 (GRCm39) |
missense |
possibly damaging |
0.51 |
R6988:Tmem39b
|
UTSW |
4 |
129,586,941 (GRCm39) |
missense |
possibly damaging |
0.92 |
R7614:Tmem39b
|
UTSW |
4 |
129,587,694 (GRCm39) |
missense |
probably damaging |
1.00 |
R8129:Tmem39b
|
UTSW |
4 |
129,572,468 (GRCm39) |
missense |
probably damaging |
0.99 |
R8708:Tmem39b
|
UTSW |
4 |
129,570,191 (GRCm39) |
unclassified |
probably benign |
|
R9249:Tmem39b
|
UTSW |
4 |
129,572,468 (GRCm39) |
missense |
probably damaging |
0.99 |
X0024:Tmem39b
|
UTSW |
4 |
129,578,240 (GRCm39) |
missense |
possibly damaging |
0.94 |
Z1088:Tmem39b
|
UTSW |
4 |
129,586,270 (GRCm39) |
missense |
probably benign |
0.03 |
|
Predicted Primers |
PCR Primer
(F):5'- GAACTTCTATCACAACTGGCAGTC -3'
(R):5'- GTCGGGACTACTTTCTGACAC -3'
Sequencing Primer
(F):5'- TCATGAGACTGCAGATGTGACTC -3'
(R):5'- TACTTTCTGACACTGCGGGAGAC -3'
|
Posted On |
2018-07-23 |