Incidental Mutation 'R5315:Tmem106b'
| ID |
405792 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Tmem106b
|
| Ensembl Gene |
ENSMUSG00000029571 |
| Gene Name |
transmembrane protein 106B |
| Synonyms |
2310036D22Rik, 5830455K21Rik, 6430519M21Rik |
| MMRRC Submission |
042898-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R5315 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
6 |
| Chromosomal Location |
13069758-13089268 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to G
at 13081559 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Asparagine to Lysine
at position 155
(N155K)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000122107
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000031556]
[ENSMUST00000122916]
|
| AlphaFold |
Q80X71 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000031556
AA Change: N155K
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000031556
Gene: ENSMUSG00000029571
AA Change: N155K
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:DUF1356
|
28 |
259 |
1.6e-120 |
PFAM |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000122916
AA Change: N155K
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000122107
Gene: ENSMUSG00000029571
AA Change: N155K
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:DUF1356
|
14 |
186 |
5.8e-86 |
PFAM |
|
| Coding Region Coverage |
- 1x: 99.5%
- 3x: 99.0%
- 10x: 98.1%
- 20x: 97.1%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 34 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Ace3 |
T |
C |
11: 105,885,747 (GRCm39) |
V51A |
probably benign |
Het |
| Ass1 |
A |
T |
2: 31,382,341 (GRCm39) |
I171F |
probably benign |
Het |
| AU041133 |
T |
G |
10: 81,987,506 (GRCm39) |
Y386* |
probably null |
Het |
| Bex6 |
A |
G |
16: 32,005,311 (GRCm39) |
N40D |
probably benign |
Het |
| Cc2d2a |
A |
G |
5: 43,877,775 (GRCm39) |
Y1044C |
probably damaging |
Het |
| Cflar |
C |
G |
1: 58,792,961 (GRCm39) |
D442E |
probably benign |
Het |
| Dag1 |
A |
G |
9: 108,086,316 (GRCm39) |
V275A |
probably damaging |
Het |
| Dnah17 |
G |
A |
11: 118,018,109 (GRCm39) |
R129W |
possibly damaging |
Het |
| Epha4 |
C |
T |
1: 77,365,109 (GRCm39) |
|
probably null |
Het |
| Eri2 |
T |
C |
7: 119,385,241 (GRCm39) |
D420G |
probably benign |
Het |
| Gm42669 |
A |
T |
5: 107,656,103 (GRCm39) |
I1301F |
probably damaging |
Het |
| Golga2 |
A |
G |
2: 32,193,773 (GRCm39) |
E463G |
probably damaging |
Het |
| Grsf1 |
G |
A |
5: 88,821,634 (GRCm39) |
|
probably benign |
Het |
| Igkv6-15 |
A |
C |
6: 70,383,957 (GRCm39) |
V7G |
possibly damaging |
Het |
| Katnal2 |
A |
T |
18: 77,099,705 (GRCm39) |
V143D |
probably benign |
Het |
| Mepce |
A |
C |
5: 137,780,955 (GRCm39) |
I617S |
probably damaging |
Het |
| Mms19 |
C |
T |
19: 41,943,201 (GRCm39) |
R320Q |
possibly damaging |
Het |
| Nt5c2 |
T |
C |
19: 46,880,682 (GRCm39) |
Y353C |
probably damaging |
Het |
| Or5p76 |
A |
G |
7: 108,123,097 (GRCm39) |
L20S |
probably damaging |
Het |
| Or8s5 |
G |
A |
15: 98,238,246 (GRCm39) |
A208V |
probably benign |
Het |
| Pitpnm2 |
A |
T |
5: 124,259,996 (GRCm39) |
D1111E |
probably benign |
Het |
| Plin5 |
C |
A |
17: 56,421,066 (GRCm39) |
V200L |
probably benign |
Het |
| Rab3a |
T |
C |
8: 71,208,569 (GRCm39) |
F23L |
probably damaging |
Het |
| Rrp8 |
T |
C |
7: 105,383,207 (GRCm39) |
K353R |
probably benign |
Het |
| S100a7l2 |
G |
A |
3: 90,997,637 (GRCm39) |
T26M |
possibly damaging |
Het |
| Senp7 |
A |
G |
16: 56,000,889 (GRCm39) |
D887G |
probably benign |
Het |
| Sftpb |
G |
T |
6: 72,283,876 (GRCm39) |
A158S |
probably benign |
Het |
| Sh2d2a |
A |
C |
3: 87,754,976 (GRCm39) |
T23P |
probably damaging |
Het |
| Siglecf |
T |
C |
7: 43,004,532 (GRCm39) |
L287P |
probably benign |
Het |
| Slc4a1 |
T |
A |
11: 102,249,080 (GRCm39) |
I233F |
possibly damaging |
Het |
| Spef2 |
T |
C |
15: 9,596,777 (GRCm39) |
Q1424R |
probably damaging |
Het |
| Tbc1d14 |
T |
C |
5: 36,664,932 (GRCm39) |
D567G |
probably damaging |
Het |
| Vmn2r2 |
C |
A |
3: 64,024,377 (GRCm39) |
V735F |
probably benign |
Het |
| Zfp850 |
T |
C |
7: 27,689,743 (GRCm39) |
K155R |
probably benign |
Het |
|
| Other mutations in Tmem106b |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01545:Tmem106b
|
APN |
6 |
13,071,842 (GRCm39) |
missense |
probably benign |
|
|
IGL01982:Tmem106b
|
APN |
6 |
13,071,968 (GRCm39) |
unclassified |
probably benign |
|
|
IGL02402:Tmem106b
|
APN |
6 |
13,081,600 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
R0784:Tmem106b
|
UTSW |
6 |
13,084,252 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1630:Tmem106b
|
UTSW |
6 |
13,081,540 (GRCm39) |
missense |
probably benign |
0.43 |
|
R3958:Tmem106b
|
UTSW |
6 |
13,081,587 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4516:Tmem106b
|
UTSW |
6 |
13,075,098 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5759:Tmem106b
|
UTSW |
6 |
13,075,041 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5949:Tmem106b
|
UTSW |
6 |
13,083,418 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6179:Tmem106b
|
UTSW |
6 |
13,084,252 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6935:Tmem106b
|
UTSW |
6 |
13,081,554 (GRCm39) |
missense |
possibly damaging |
0.91 |
|
R6964:Tmem106b
|
UTSW |
6 |
13,082,422 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7142:Tmem106b
|
UTSW |
6 |
13,081,564 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7380:Tmem106b
|
UTSW |
6 |
13,078,167 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R7694:Tmem106b
|
UTSW |
6 |
13,078,105 (GRCm39) |
missense |
probably benign |
0.15 |
|
R8357:Tmem106b
|
UTSW |
6 |
13,084,243 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8457:Tmem106b
|
UTSW |
6 |
13,084,243 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9206:Tmem106b
|
UTSW |
6 |
13,082,430 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9208:Tmem106b
|
UTSW |
6 |
13,082,430 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- AAGTACTGACCTGTTGTTGGTAGAG -3'
(R):5'- TCCATTCTGCATTACACAGGG -3'
Sequencing Primer
(F):5'- ACCTGTTGTTGGTAGAGGCATG -3'
(R):5'- TCTGCATTACACAGGGTGAATACC -3'
|
| Posted On |
2016-07-22 |
Incidental Mutation