Incidental Mutation 'R6628:Fam168b'
| ID |
524892 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Fam168b
|
| Ensembl Gene |
ENSMUSG00000037503 |
| Gene Name |
family with sequence similarity 168, member B |
| Synonyms |
|
| MMRRC Submission |
044750-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.094)
|
| Stock # |
R6628 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
1 |
| Chromosomal Location |
34852307-34882094 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to A
at 34875822 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glycine to Valine
at position 21
(G21V)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000139456
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000047534]
[ENSMUST00000167518]
[ENSMUST00000170092]
[ENSMUST00000185231]
[ENSMUST00000185469]
[ENSMUST00000191307]
|
| AlphaFold |
Q80XQ8 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000047534
AA Change: G21V
PolyPhen 2
Score 0.807 (Sensitivity: 0.84; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000042212
Gene: ENSMUSG00000037503
AA Change: G21V
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:TCRP1
|
1 |
194 |
1e-108 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000140534
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000167518
AA Change: G21V
PolyPhen 2
Score 0.984 (Sensitivity: 0.74; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000131720
Gene: ENSMUSG00000037503
AA Change: G21V
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:TCRP1
|
1 |
62 |
3.3e-26 |
PFAM |
|
Pfam:TCRP1
|
54 |
206 |
1.1e-89 |
PFAM |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000170092
AA Change: G21V
PolyPhen 2
Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
|
| SMART Domains |
Protein: ENSMUSP00000128676
Gene: ENSMUSG00000037503
AA Change: G21V
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:TCRP1
|
1 |
201 |
8.8e-108 |
PFAM |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000185231
AA Change: G21V
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000139456
Gene: ENSMUSG00000037503
AA Change: G21V
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:TCRP1
|
1 |
90 |
7.5e-19 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000185279
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000185469
AA Change: G21V
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000141150
Gene: ENSMUSG00000037503
AA Change: G21V
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:TCRP1
|
1 |
66 |
3.6e-21 |
PFAM |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000191307
AA Change: G21V
PolyPhen 2
Score 0.984 (Sensitivity: 0.74; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000140573
Gene: ENSMUSG00000037503
AA Change: G21V
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:TCRP1
|
1 |
206 |
2.8e-108 |
PFAM |
|
| Meta Mutation Damage Score |
0.3811 |
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.5%
- 10x: 97.7%
- 20x: 92.9%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 28 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adamts1 |
A |
C |
16: 85,592,713 (GRCm39) |
M565R |
probably benign |
Het |
| Cd4 |
A |
G |
6: 124,856,431 (GRCm39) |
L20P |
unknown |
Het |
| Chrm2 |
G |
T |
6: 36,500,292 (GRCm39) |
V50F |
probably damaging |
Het |
| Clasp2 |
A |
G |
9: 113,725,788 (GRCm39) |
T828A |
probably damaging |
Het |
| Clec4a4 |
A |
G |
6: 122,989,763 (GRCm39) |
K135E |
probably benign |
Het |
| Clmn |
T |
C |
12: 104,740,045 (GRCm39) |
R961G |
probably damaging |
Het |
| Cyp2s1 |
T |
C |
7: 25,514,466 (GRCm39) |
K64E |
probably benign |
Het |
| Dagla |
T |
C |
19: 10,240,591 (GRCm39) |
D213G |
probably damaging |
Het |
| Dsp |
A |
T |
13: 38,351,598 (GRCm39) |
E139V |
possibly damaging |
Het |
| Gtf3c1 |
A |
T |
7: 125,267,246 (GRCm39) |
D928E |
probably benign |
Het |
| Gulo |
T |
C |
14: 66,241,619 (GRCm39) |
K80E |
probably benign |
Het |
| H2-T9 |
T |
C |
17: 36,439,946 (GRCm39) |
S63G |
possibly damaging |
Het |
| Kdm5d |
A |
G |
Y: 900,525 (GRCm39) |
Y190C |
probably damaging |
Homo |
| Kif27 |
A |
T |
13: 58,502,611 (GRCm39) |
H22Q |
probably damaging |
Het |
| Kmt2c |
T |
C |
5: 25,503,926 (GRCm39) |
D383G |
probably benign |
Het |
| Lmtk2 |
A |
G |
5: 144,111,503 (GRCm39) |
E741G |
probably benign |
Het |
| Mphosph9 |
G |
T |
5: 124,436,825 (GRCm39) |
N506K |
probably damaging |
Het |
| Myo16 |
T |
C |
8: 10,620,638 (GRCm39) |
S1674P |
probably damaging |
Het |
| Or5h26 |
T |
C |
16: 58,988,344 (GRCm39) |
H54R |
probably benign |
Het |
| Or8j3c |
T |
G |
2: 86,253,361 (GRCm39) |
N220H |
probably benign |
Het |
| Pdcd10 |
A |
G |
3: 75,428,378 (GRCm39) |
V82A |
probably damaging |
Het |
| Ptpn11 |
G |
T |
5: 121,272,892 (GRCm39) |
|
probably null |
Het |
| Pxdn |
T |
C |
12: 30,049,917 (GRCm39) |
L475P |
probably damaging |
Het |
| Senp6 |
A |
G |
9: 80,040,236 (GRCm39) |
D781G |
probably damaging |
Het |
| Tbc1d5 |
T |
C |
17: 51,043,236 (GRCm39) |
T751A |
probably benign |
Het |
| Tbx18 |
A |
T |
9: 87,597,588 (GRCm39) |
Y315* |
probably null |
Het |
| Wrap53 |
T |
C |
11: 69,452,970 (GRCm39) |
K446E |
probably benign |
Het |
| Wwp1 |
T |
C |
4: 19,661,963 (GRCm39) |
|
probably null |
Het |
|
| Other mutations in Fam168b |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00340:Fam168b
|
APN |
1 |
34,875,883 (GRCm39) |
start codon destroyed |
probably null |
0.58 |
|
R0207:Fam168b
|
UTSW |
1 |
34,858,769 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R2008:Fam168b
|
UTSW |
1 |
34,858,946 (GRCm39) |
critical splice donor site |
probably null |
|
|
R4020:Fam168b
|
UTSW |
1 |
34,867,860 (GRCm39) |
missense |
possibly damaging |
0.71 |
|
R4617:Fam168b
|
UTSW |
1 |
34,859,063 (GRCm39) |
missense |
possibly damaging |
0.90 |
|
R5154:Fam168b
|
UTSW |
1 |
34,857,180 (GRCm39) |
missense |
possibly damaging |
0.83 |
|
R6167:Fam168b
|
UTSW |
1 |
34,858,684 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6600:Fam168b
|
UTSW |
1 |
34,875,822 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6602:Fam168b
|
UTSW |
1 |
34,875,822 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6603:Fam168b
|
UTSW |
1 |
34,875,822 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6627:Fam168b
|
UTSW |
1 |
34,875,822 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6644:Fam168b
|
UTSW |
1 |
34,875,822 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6692:Fam168b
|
UTSW |
1 |
34,875,822 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6705:Fam168b
|
UTSW |
1 |
34,867,864 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R6985:Fam168b
|
UTSW |
1 |
34,858,789 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7387:Fam168b
|
UTSW |
1 |
34,858,789 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8992:Fam168b
|
UTSW |
1 |
34,858,862 (GRCm39) |
missense |
probably benign |
0.00 |
|
Z1177:Fam168b
|
UTSW |
1 |
34,858,963 (GRCm39) |
nonsense |
probably null |
|
|
| Predicted Primers |
PCR Primer
(F):5'- TAACTCCGAGTCAGTTTGCCC -3'
(R):5'- GGAGCAGCAGAAAATACTTTGC -3'
Sequencing Primer
(F):5'- GGTAAAACACTGTTGCCTGC -3'
(R):5'- GCAGCAGAAAATACTTTGCTTTATAG -3'
|
| Posted On |
2018-06-22 |
Incidental Mutation