Incidental Mutation 'R6602:Fam168b'
| ID |
525312 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Fam168b
|
| Ensembl Gene |
ENSMUSG00000037503 |
| Gene Name |
family with sequence similarity 168, member B |
| Synonyms |
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.094)
|
| Stock # |
R6602 (G1)
|
| Quality Score |
225.009 |
|
Status
|
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: 97.6%
- 20x: 92.6%
|
| Validation Efficiency |
100% (43/43) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 43 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 2310022B05Rik |
A |
G |
8: 125,365,993 (GRCm39) |
L250P |
probably damaging |
Het |
| 4921539E11Rik |
T |
C |
4: 103,112,769 (GRCm39) |
H12R |
probably benign |
Het |
| Abca4 |
A |
C |
3: 121,932,150 (GRCm39) |
Q268P |
probably benign |
Het |
| Adgrf5 |
T |
A |
17: 43,761,195 (GRCm39) |
N963K |
probably benign |
Het |
| Arl10 |
A |
G |
13: 54,726,750 (GRCm39) |
D176G |
probably damaging |
Het |
| Btnl1 |
T |
A |
17: 34,604,722 (GRCm39) |
M501K |
probably damaging |
Het |
| Ccdc162 |
G |
T |
10: 41,491,976 (GRCm39) |
T1079K |
probably benign |
Het |
| Cd163 |
T |
A |
6: 124,288,594 (GRCm39) |
W342R |
probably damaging |
Het |
| Cd70 |
T |
C |
17: 57,456,562 (GRCm39) |
S14G |
probably benign |
Het |
| Chil4 |
C |
A |
3: 106,117,906 (GRCm39) |
K121N |
probably benign |
Het |
| Csf1r |
A |
G |
18: 61,243,497 (GRCm39) |
D171G |
possibly damaging |
Het |
| Cyp4a31 |
A |
T |
4: 115,426,904 (GRCm39) |
|
probably null |
Het |
| Dapk1 |
A |
T |
13: 60,897,018 (GRCm39) |
I746F |
probably benign |
Het |
| Erbb4 |
A |
G |
1: 68,409,662 (GRCm39) |
S192P |
probably damaging |
Het |
| Exoc8 |
C |
A |
8: 125,623,150 (GRCm39) |
V406L |
probably damaging |
Het |
| Greb1 |
A |
T |
12: 16,759,441 (GRCm39) |
V652E |
probably benign |
Het |
| Ift88 |
A |
G |
14: 57,744,716 (GRCm39) |
S745G |
probably benign |
Het |
| Il18bp |
T |
C |
7: 101,665,237 (GRCm39) |
|
probably benign |
Het |
| Il6st |
A |
G |
13: 112,640,947 (GRCm39) |
T908A |
probably damaging |
Het |
| Klk1b11 |
A |
G |
7: 43,424,198 (GRCm39) |
S6G |
probably benign |
Het |
| Mastl |
T |
C |
2: 23,022,689 (GRCm39) |
Y678C |
probably benign |
Het |
| Msra |
A |
T |
14: 64,360,788 (GRCm39) |
H184Q |
probably benign |
Het |
| Muc16 |
A |
C |
9: 18,520,772 (GRCm39) |
|
probably null |
Het |
| Myo3a |
T |
G |
2: 22,467,799 (GRCm39) |
L351R |
probably damaging |
Het |
| Npy5r |
GCTGTGAAACACTG |
GCTG |
8: 67,134,192 (GRCm39) |
|
probably null |
Het |
| Or4d2 |
T |
C |
11: 87,784,478 (GRCm39) |
T91A |
probably benign |
Het |
| Or7d11 |
C |
T |
9: 19,966,342 (GRCm39) |
R139Q |
probably benign |
Het |
| Or7g18 |
A |
G |
9: 18,787,145 (GRCm39) |
D174G |
possibly damaging |
Het |
| Pcdhb18 |
A |
T |
18: 37,623,533 (GRCm39) |
I288F |
probably damaging |
Het |
| Pitpna |
T |
G |
11: 75,511,141 (GRCm39) |
V238G |
possibly damaging |
Het |
| Ppfibp1 |
T |
A |
6: 146,879,719 (GRCm39) |
V81E |
possibly damaging |
Het |
| Rab11fip2 |
T |
A |
19: 59,931,288 (GRCm39) |
T49S |
probably damaging |
Het |
| Rsl24d1 |
T |
A |
9: 73,020,792 (GRCm39) |
I3N |
possibly damaging |
Het |
| Rtn1 |
T |
C |
12: 72,266,092 (GRCm39) |
N161S |
probably damaging |
Het |
| Shank1 |
A |
G |
7: 44,001,760 (GRCm39) |
I1151V |
probably benign |
Het |
| Slc34a3 |
A |
G |
2: 25,119,221 (GRCm39) |
S550P |
probably damaging |
Het |
| Slc4a1ap |
A |
G |
5: 31,684,985 (GRCm39) |
H207R |
probably damaging |
Het |
| Sphkap |
T |
A |
1: 83,253,479 (GRCm39) |
K1423N |
possibly damaging |
Het |
| Ttn |
A |
G |
2: 76,712,097 (GRCm39) |
|
probably benign |
Het |
| Ubqln5 |
T |
A |
7: 103,778,696 (GRCm39) |
S43C |
probably benign |
Het |
| Vps13d |
G |
A |
4: 144,830,234 (GRCm39) |
|
probably benign |
Het |
| Wwp1 |
A |
T |
4: 19,641,816 (GRCm39) |
V413D |
probably damaging |
Het |
| Zfp267 |
G |
T |
3: 36,219,004 (GRCm39) |
L341F |
possibly damaging |
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 |
|
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 |
|
R6628: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'- AGTCAGTTTGCCCACTGTC -3'
(R):5'- GGAGCAGCAGAAAATACTTTGC -3'
Sequencing Primer
(F):5'- GGTAAAACACTGTTGCCTGC -3'
(R):5'- GCAGCAGAAAATACTTTGCTTTATAG -3'
|
| Posted On |
2018-06-22 |
Incidental Mutation