Incidental Mutation 'R6705:Fam168b'
ID |
528882 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Fam168b
|
Ensembl Gene |
ENSMUSG00000037503 |
Gene Name |
family with sequence similarity 168, member B |
Synonyms |
|
MMRRC Submission |
044823-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.094)
|
Stock # |
R6705 (G1)
|
Quality Score |
225.009 |
Status
|
Validated
|
Chromosome |
1 |
Chromosomal Location |
34852307-34882094 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to T
at 34867864 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Asparagine to Lysine
at position 45
(N45K)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000139456
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000047534]
[ENSMUST00000167518]
[ENSMUST00000170092]
[ENSMUST00000185231]
[ENSMUST00000185469]
[ENSMUST00000191307]
|
AlphaFold |
Q80XQ8 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000047534
AA Change: N45K
PolyPhen 2
Score 0.033 (Sensitivity: 0.95; Specificity: 0.82)
|
SMART Domains |
Protein: ENSMUSP00000042212 Gene: ENSMUSG00000037503 AA Change: N45K
Domain | Start | End | E-Value | Type |
Pfam:TCRP1
|
1 |
194 |
1e-108 |
PFAM |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000140534
|
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000167518
AA Change: N45K
PolyPhen 2
Score 0.596 (Sensitivity: 0.87; Specificity: 0.91)
|
SMART Domains |
Protein: ENSMUSP00000131720 Gene: ENSMUSG00000037503 AA Change: N45K
Domain | Start | End | E-Value | Type |
Pfam:TCRP1
|
1 |
62 |
3.3e-26 |
PFAM |
Pfam:TCRP1
|
54 |
206 |
1.1e-89 |
PFAM |
|
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000170092
AA Change: N45K
PolyPhen 2
Score 0.463 (Sensitivity: 0.89; Specificity: 0.90)
|
SMART Domains |
Protein: ENSMUSP00000128676 Gene: ENSMUSG00000037503 AA Change: N45K
Domain | Start | End | E-Value | Type |
Pfam:TCRP1
|
1 |
201 |
8.8e-108 |
PFAM |
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000185231
AA Change: N45K
PolyPhen 2
Score 0.981 (Sensitivity: 0.75; Specificity: 0.96)
|
SMART Domains |
Protein: ENSMUSP00000139456 Gene: ENSMUSG00000037503 AA Change: N45K
Domain | Start | End | E-Value | Type |
Pfam:TCRP1
|
1 |
90 |
7.5e-19 |
PFAM |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000185279
|
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000185469
AA Change: N45K
PolyPhen 2
Score 0.847 (Sensitivity: 0.83; Specificity: 0.93)
|
SMART Domains |
Protein: ENSMUSP00000141150 Gene: ENSMUSG00000037503 AA Change: N45K
Domain | Start | End | E-Value | Type |
Pfam:TCRP1
|
1 |
66 |
3.6e-21 |
PFAM |
|
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000191307
AA Change: N45K
PolyPhen 2
Score 0.596 (Sensitivity: 0.87; Specificity: 0.91)
|
SMART Domains |
Protein: ENSMUSP00000140573 Gene: ENSMUSG00000037503 AA Change: N45K
Domain | Start | End | E-Value | Type |
Pfam:TCRP1
|
1 |
206 |
2.8e-108 |
PFAM |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000192924
|
Meta Mutation Damage Score |
0.0756 |
Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.5%
- 10x: 97.9%
- 20x: 93.7%
|
Validation Efficiency |
100% (44/44) |
Allele List at MGI |
|
Other mutations in this stock |
Total: 43 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Ablim1 |
G |
A |
19: 57,204,253 (GRCm39) |
T46I |
probably benign |
Het |
Afdn |
G |
A |
17: 14,108,283 (GRCm39) |
V1269I |
probably benign |
Het |
Aldh5a1 |
A |
T |
13: 25,096,253 (GRCm39) |
N448K |
probably damaging |
Het |
Cant1 |
G |
T |
11: 118,298,698 (GRCm39) |
T355K |
probably damaging |
Het |
Ccn2 |
T |
A |
10: 24,471,853 (GRCm39) |
L25Q |
probably damaging |
Het |
Comp |
C |
A |
8: 70,829,387 (GRCm39) |
N321K |
probably damaging |
Het |
D1Pas1 |
G |
T |
1: 186,700,576 (GRCm39) |
E168D |
probably benign |
Het |
Ddx23 |
G |
A |
15: 98,550,849 (GRCm39) |
R111* |
probably null |
Het |
Eml2 |
G |
A |
7: 18,935,088 (GRCm39) |
V432I |
probably damaging |
Het |
Erlin2 |
T |
A |
8: 27,526,468 (GRCm39) |
L276Q |
probably damaging |
Het |
Etaa1 |
T |
C |
11: 17,895,639 (GRCm39) |
N826S |
probably benign |
Het |
Gas2l2 |
G |
A |
11: 83,313,462 (GRCm39) |
R617* |
probably null |
Het |
Gtf3c2 |
C |
A |
5: 31,323,352 (GRCm39) |
C533F |
possibly damaging |
Het |
Hdac5 |
T |
C |
11: 102,092,062 (GRCm39) |
T676A |
probably damaging |
Het |
Helb |
A |
G |
10: 119,925,716 (GRCm39) |
|
probably null |
Het |
Igkv3-7 |
A |
T |
6: 70,585,004 (GRCm39) |
S95C |
probably benign |
Het |
Kdm3b |
A |
G |
18: 34,952,926 (GRCm39) |
I899V |
probably damaging |
Het |
Lgr5 |
G |
A |
10: 115,423,193 (GRCm39) |
S69F |
probably damaging |
Het |
Lrrc55 |
A |
T |
2: 85,026,699 (GRCm39) |
D108E |
probably benign |
Het |
Mphosph9 |
T |
C |
5: 124,429,027 (GRCm39) |
N667S |
possibly damaging |
Het |
Myf6 |
C |
T |
10: 107,329,690 (GRCm39) |
V198M |
possibly damaging |
Het |
Nav2 |
T |
C |
7: 49,201,664 (GRCm39) |
S1413P |
probably damaging |
Het |
Nfe2l1 |
A |
C |
11: 96,718,451 (GRCm39) |
V28G |
probably damaging |
Het |
Nup210 |
G |
T |
6: 91,064,942 (GRCm39) |
T186K |
possibly damaging |
Het |
Or13a18 |
T |
A |
7: 140,190,697 (GRCm39) |
M206K |
probably damaging |
Het |
Or6c1b |
G |
A |
10: 129,272,941 (GRCm39) |
D87N |
probably benign |
Het |
Or8b12 |
T |
A |
9: 37,658,030 (GRCm39) |
I200N |
possibly damaging |
Het |
Or8b4 |
T |
A |
9: 37,830,080 (GRCm39) |
N42K |
probably damaging |
Het |
Ppfia1 |
G |
A |
7: 144,072,911 (GRCm39) |
T301M |
possibly damaging |
Het |
Ppp1r14c |
A |
T |
10: 3,316,890 (GRCm39) |
Y75F |
probably damaging |
Het |
Ppp1r3g |
C |
A |
13: 36,152,880 (GRCm39) |
A100E |
probably benign |
Het |
Rictor |
A |
G |
15: 6,823,493 (GRCm39) |
T1557A |
probably benign |
Het |
Shc1 |
C |
T |
3: 89,330,266 (GRCm39) |
R67* |
probably null |
Het |
Skint10 |
A |
T |
4: 112,630,301 (GRCm39) |
|
probably benign |
Het |
Slk |
A |
G |
19: 47,597,498 (GRCm39) |
N102S |
probably benign |
Het |
Tbc1d5 |
T |
C |
17: 51,332,203 (GRCm39) |
|
probably benign |
Het |
Tiam2 |
G |
A |
17: 3,568,518 (GRCm39) |
V1555I |
probably benign |
Het |
Vmn1r174 |
C |
A |
7: 23,453,851 (GRCm39) |
S172R |
probably benign |
Het |
Vps39 |
A |
T |
2: 120,151,157 (GRCm39) |
N823K |
probably benign |
Het |
Wdr27 |
A |
T |
17: 15,154,852 (GRCm39) |
Y22N |
probably damaging |
Het |
Xrn2 |
A |
G |
2: 146,878,582 (GRCm39) |
|
probably null |
Het |
Zbp1 |
A |
T |
2: 173,055,680 (GRCm39) |
C161* |
probably null |
Het |
Zfp236 |
T |
A |
18: 82,651,862 (GRCm39) |
E821V |
probably 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 |
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 |
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 |
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'- TTACCTGTACAGCCCAGAGG -3'
(R):5'- GAGAAGCTGACTAGAGATGATTTTG -3'
Sequencing Primer
(F):5'- TGGCGGGCAGATCTGAG -3'
(R):5'- ACTAGAGATGATTTTGTTTTGAGCAG -3'
|
Posted On |
2018-07-24 |