Incidental Mutation 'R5623:Tmem176b'
| ID |
441677 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Tmem176b
|
| Ensembl Gene |
ENSMUSG00000029810 |
| Gene Name |
transmembrane protein 176B |
| Synonyms |
Lr8, Clast1, 1810009M01Rik |
| MMRRC Submission |
043162-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.121)
|
| Stock # |
R5623 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
6 |
| Chromosomal Location |
48810745-48818363 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to G
at 48811004 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Leucine
at position 259
(I259L)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000144864
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000101429]
[ENSMUST00000164733]
[ENSMUST00000166247]
[ENSMUST00000203229]
[ENSMUST00000203265]
[ENSMUST00000203355]
[ENSMUST00000203501]
[ENSMUST00000204073]
[ENSMUST00000204783]
[ENSMUST00000205147]
[ENSMUST00000205159]
|
| AlphaFold |
Q9R1Q6 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000101429
AA Change: I259L
PolyPhen 2
Score 0.142 (Sensitivity: 0.92; Specificity: 0.86)
|
| SMART Domains |
Protein: ENSMUSP00000098972
Gene: ENSMUSG00000029810
AA Change: I259L
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:CD20
|
60 |
224 |
5.2e-41 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000164733
AA Change: I259L
PolyPhen 2
Score 0.142 (Sensitivity: 0.92; Specificity: 0.86)
|
| SMART Domains |
Protein: ENSMUSP00000128705
Gene: ENSMUSG00000029810
AA Change: I259L
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:CD20
|
60 |
224 |
5.2e-41 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000166247
AA Change: I259L
PolyPhen 2
Score 0.142 (Sensitivity: 0.92; Specificity: 0.86)
|
| SMART Domains |
Protein: ENSMUSP00000131064
Gene: ENSMUSG00000029810
AA Change: I259L
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:CD20
|
60 |
224 |
7.6e-46 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000203229
|
| SMART Domains |
Protein: ENSMUSP00000144865
Gene: ENSMUSG00000029810
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:CD20
|
60 |
195 |
2.3e-35 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000203265
|
| SMART Domains |
Protein: ENSMUSP00000144869
Gene: ENSMUSG00000029810
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:CD20
|
60 |
194 |
2.9e-35 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000203355
AA Change: I259L
PolyPhen 2
Score 0.142 (Sensitivity: 0.92; Specificity: 0.86)
|
| SMART Domains |
Protein: ENSMUSP00000145395
Gene: ENSMUSG00000029810
AA Change: I259L
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:CD20
|
60 |
224 |
7.6e-46 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000203501
|
| SMART Domains |
Protein: ENSMUSP00000144742
Gene: ENSMUSG00000029810
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:CD20
|
60 |
170 |
3.6e-30 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000204073
AA Change: I259L
PolyPhen 2
Score 0.142 (Sensitivity: 0.92; Specificity: 0.86)
|
| SMART Domains |
Protein: ENSMUSP00000144864
Gene: ENSMUSG00000029810
AA Change: I259L
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:CD20
|
60 |
224 |
7.6e-46 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000204783
|
| SMART Domains |
Protein: ENSMUSP00000144810
Gene: ENSMUSG00000029810
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:CD20
|
1 |
58 |
1.1e-10 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000205147
|
| SMART Domains |
Protein: ENSMUSP00000145235
Gene: ENSMUSG00000029810
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:CD20
|
60 |
195 |
2.3e-35 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000205159
|
| SMART Domains |
Protein: ENSMUSP00000144949
Gene: ENSMUSG00000029810
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:CD20
|
60 |
196 |
1.2e-35 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000203618
|
| Meta Mutation Damage Score |
0.0898 |
| Coding Region Coverage |
- 1x: 99.4%
- 3x: 98.7%
- 10x: 97.2%
- 20x: 95.0%
|
| Validation Efficiency |
98% (65/66) |
| MGI Phenotype |
PHENOTYPE: Most mice homozygous for a knock-out allele exhibit severe sporadic ataxia and a small cerebellum associated with abnormal cerebellar lobulation, loss of the internal granule cell layer, poor formation of the external germinal layer, and disorganized Purkinje cells. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 57 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Atp8b1 |
T |
G |
18: 64,679,165 (GRCm39) |
Q772P |
possibly damaging |
Het |
| B3gnt2 |
C |
G |
11: 22,787,018 (GRCm39) |
A57P |
probably damaging |
Het |
| Birc6 |
T |
G |
17: 74,835,651 (GRCm39) |
D63E |
probably damaging |
Het |
| Ccdc13 |
T |
C |
9: 121,662,799 (GRCm39) |
E72G |
probably damaging |
Het |
| Cfap221 |
C |
T |
1: 119,881,898 (GRCm39) |
A297T |
probably benign |
Het |
| Chd1 |
T |
A |
17: 15,975,194 (GRCm39) |
N1081K |
probably damaging |
Het |
| Chrm3 |
C |
A |
13: 9,927,423 (GRCm39) |
V538L |
possibly damaging |
Het |
| Clec16a |
T |
A |
16: 10,428,985 (GRCm39) |
N37K |
probably benign |
Het |
| Cnksr3 |
T |
A |
10: 7,070,548 (GRCm39) |
I229F |
probably damaging |
Het |
| Cspg4b |
T |
C |
13: 113,483,168 (GRCm39) |
I1590T |
possibly damaging |
Het |
| Dchs1 |
T |
C |
7: 105,421,976 (GRCm39) |
E148G |
probably damaging |
Het |
| Diaph1 |
A |
T |
18: 38,029,146 (GRCm39) |
|
probably benign |
Het |
| Dis3l |
A |
G |
9: 64,214,885 (GRCm39) |
F895L |
possibly damaging |
Het |
| Dnah1 |
G |
T |
14: 31,007,980 (GRCm39) |
D2142E |
possibly damaging |
Het |
| Dst |
T |
C |
1: 34,229,214 (GRCm39) |
V1944A |
possibly damaging |
Het |
| Eif4a2 |
C |
T |
16: 22,928,969 (GRCm39) |
|
probably benign |
Het |
| Ephb6 |
T |
A |
6: 41,593,415 (GRCm39) |
M487K |
probably benign |
Het |
| Fgf18 |
T |
G |
11: 33,084,272 (GRCm39) |
T61P |
probably damaging |
Het |
| G6pc2 |
A |
G |
2: 69,056,927 (GRCm39) |
E191G |
probably damaging |
Het |
| Gm10717 |
C |
T |
9: 3,026,318 (GRCm39) |
S55L |
probably benign |
Het |
| Gm5414 |
A |
G |
15: 101,534,246 (GRCm39) |
F286S |
probably damaging |
Het |
| Gpcpd1 |
G |
T |
2: 132,376,637 (GRCm39) |
A553E |
probably damaging |
Het |
| Gpr153 |
A |
G |
4: 152,366,398 (GRCm39) |
D321G |
possibly damaging |
Het |
| Hecw2 |
T |
A |
1: 53,871,782 (GRCm39) |
Q1388L |
probably null |
Het |
| Ighv14-3 |
A |
C |
12: 114,023,710 (GRCm39) |
S36A |
probably damaging |
Het |
| Inpp5j |
C |
A |
11: 3,444,766 (GRCm39) |
G969V |
probably damaging |
Het |
| Kat5 |
G |
A |
19: 5,657,590 (GRCm39) |
R307W |
probably damaging |
Het |
| Klk1b21 |
A |
G |
7: 43,754,989 (GRCm39) |
S95G |
probably damaging |
Het |
| Mdm1 |
G |
A |
10: 117,986,694 (GRCm39) |
V171I |
possibly damaging |
Het |
| Nfu1 |
TCGC |
T |
6: 86,993,188 (GRCm39) |
|
probably benign |
Het |
| Or5k8 |
C |
T |
16: 58,644,706 (GRCm39) |
R122H |
probably benign |
Het |
| Or6c206 |
G |
A |
10: 129,096,901 (GRCm39) |
V24M |
probably benign |
Het |
| Phkb |
T |
A |
8: 86,569,677 (GRCm39) |
|
probably benign |
Het |
| Pkd1l3 |
A |
T |
8: 110,350,351 (GRCm39) |
T399S |
possibly damaging |
Het |
| Prr14l |
A |
T |
5: 33,001,852 (GRCm39) |
|
probably benign |
Het |
| Psg21 |
A |
C |
7: 18,388,939 (GRCm39) |
L51R |
probably damaging |
Het |
| Ptprg |
T |
A |
14: 12,153,857 (GRCm38) |
I526N |
probably damaging |
Het |
| Rab1a |
T |
C |
11: 20,151,626 (GRCm39) |
|
probably benign |
Het |
| Rims2 |
A |
T |
15: 39,342,011 (GRCm39) |
Q620L |
probably damaging |
Het |
| Rnf215 |
T |
G |
11: 4,085,453 (GRCm39) |
S58A |
probably benign |
Het |
| Scaper |
A |
C |
9: 55,771,791 (GRCm39) |
V375G |
probably benign |
Het |
| Sgk3 |
A |
T |
1: 9,872,520 (GRCm39) |
|
probably benign |
Het |
| Skic2 |
T |
C |
17: 35,066,408 (GRCm39) |
K192E |
probably benign |
Het |
| Slc34a3 |
T |
A |
2: 25,123,312 (GRCm39) |
|
probably null |
Het |
| Sspn |
T |
A |
6: 145,906,952 (GRCm39) |
C52S |
probably damaging |
Het |
| Strip1 |
T |
C |
3: 107,534,142 (GRCm39) |
E164G |
possibly damaging |
Het |
| Sult5a1 |
A |
C |
8: 123,884,181 (GRCm39) |
S47A |
probably damaging |
Het |
| Svep1 |
T |
C |
4: 58,091,964 (GRCm39) |
D1557G |
possibly damaging |
Het |
| Tdrd6 |
T |
C |
17: 43,940,224 (GRCm39) |
I275V |
probably damaging |
Het |
| Thada |
C |
T |
17: 84,499,411 (GRCm39) |
V1929I |
probably benign |
Het |
| Tmem132b |
G |
A |
5: 125,700,416 (GRCm39) |
R318Q |
probably damaging |
Het |
| Tmppe |
C |
A |
9: 114,234,964 (GRCm39) |
P421Q |
possibly damaging |
Het |
| Tmprss11e |
G |
A |
5: 86,857,315 (GRCm39) |
Q333* |
probably null |
Het |
| Tpcn2 |
T |
A |
7: 144,821,071 (GRCm39) |
R328W |
possibly damaging |
Het |
| Trem1 |
C |
T |
17: 48,544,083 (GRCm39) |
T36I |
probably damaging |
Het |
| Trpm2 |
C |
A |
10: 77,767,973 (GRCm39) |
R842L |
probably damaging |
Het |
| Zfp319 |
A |
G |
8: 96,052,199 (GRCm39) |
|
probably benign |
Het |
|
| Other mutations in Tmem176b |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00961:Tmem176b
|
APN |
6 |
48,811,004 (GRCm39) |
missense |
possibly damaging |
0.79 |
|
IGL02374:Tmem176b
|
APN |
6 |
48,811,560 (GRCm39) |
missense |
possibly damaging |
0.60 |
|
IGL03027:Tmem176b
|
APN |
6 |
48,812,573 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL03134:Tmem176b
|
UTSW |
6 |
48,815,287 (GRCm39) |
missense |
probably benign |
0.00 |
|
R1634:Tmem176b
|
UTSW |
6 |
48,811,500 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1920:Tmem176b
|
UTSW |
6 |
48,815,138 (GRCm39) |
missense |
possibly damaging |
0.70 |
|
R2008:Tmem176b
|
UTSW |
6 |
48,812,383 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R2056:Tmem176b
|
UTSW |
6 |
48,813,267 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R2057:Tmem176b
|
UTSW |
6 |
48,813,267 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R2059:Tmem176b
|
UTSW |
6 |
48,813,267 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R5099:Tmem176b
|
UTSW |
6 |
48,811,463 (GRCm39) |
missense |
probably benign |
|
|
R5484:Tmem176b
|
UTSW |
6 |
48,811,467 (GRCm39) |
missense |
probably benign |
0.01 |
|
R6102:Tmem176b
|
UTSW |
6 |
48,812,868 (GRCm39) |
missense |
probably benign |
0.30 |
|
R6413:Tmem176b
|
UTSW |
6 |
48,815,266 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R7723:Tmem176b
|
UTSW |
6 |
48,812,869 (GRCm39) |
missense |
probably benign |
0.06 |
|
R8531:Tmem176b
|
UTSW |
6 |
48,811,538 (GRCm39) |
missense |
possibly damaging |
0.58 |
|
R8976:Tmem176b
|
UTSW |
6 |
48,812,600 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8987:Tmem176b
|
UTSW |
6 |
48,812,530 (GRCm39) |
missense |
probably damaging |
0.98 |
|
| Predicted Primers |
PCR Primer
(F):5'- ACATTGGCGTGAGGACAGTG -3'
(R):5'- TGTCGAAGTCTGTTCCTCAC -3'
Sequencing Primer
(F):5'- CGTGAGGACAGTGGGGAG -3'
(R):5'- TCACCTTTCCTGCCGGAGAG -3'
|
| Posted On |
2016-11-08 |
Incidental Mutation