Incidental Mutation 'R2175:Fam151b'
| ID |
236841 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Fam151b
|
| Ensembl Gene |
ENSMUSG00000034334 |
| Gene Name |
family with sequence similarity 151, member B |
| Synonyms |
4930405M20Rik |
| MMRRC Submission |
040177-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R2175 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
13 |
| Chromosomal Location |
92586133-92620523 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 92614426 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Arginine to Glycine
at position 21
(R21G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000153204
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000040106]
[ENSMUST00000225299]
|
| AlphaFold |
D3YUE4 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000040106
AA Change: R21G
PolyPhen 2
Score 0.010 (Sensitivity: 0.96; Specificity: 0.77)
|
| SMART Domains |
Protein: ENSMUSP00000045024
Gene: ENSMUSG00000034334
AA Change: R21G
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:DUF2181
|
29 |
263 |
2.3e-102 |
PFAM |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000225299
AA Change: R21G
PolyPhen 2
Score 0.992 (Sensitivity: 0.70; Specificity: 0.97)
|
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.4%
- 20x: 95.3%
|
| Validation Efficiency |
|
| Allele List at MGI |
All alleles(2) : Targeted(2)
|
| Other mutations in this stock |
Total: 34 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adam34l |
T |
A |
8: 44,078,475 (GRCm39) |
Y583F |
probably benign |
Het |
| Adra2a |
A |
G |
19: 54,034,793 (GRCm39) |
T50A |
probably benign |
Het |
| Alox8 |
T |
C |
11: 69,078,592 (GRCm39) |
Y367C |
possibly damaging |
Het |
| Ankfn1 |
A |
G |
11: 89,417,363 (GRCm39) |
L83P |
probably damaging |
Het |
| Asxl3 |
T |
C |
18: 22,649,652 (GRCm39) |
L547P |
probably benign |
Het |
| Cox10 |
G |
A |
11: 63,962,475 (GRCm39) |
A122V |
probably benign |
Het |
| Cttnbp2 |
A |
C |
6: 18,434,828 (GRCm39) |
|
probably null |
Het |
| Eml5 |
A |
T |
12: 98,842,482 (GRCm39) |
C205* |
probably null |
Het |
| Ephx3 |
T |
A |
17: 32,407,433 (GRCm39) |
T204S |
possibly damaging |
Het |
| Evi5l |
A |
G |
8: 4,237,269 (GRCm39) |
H124R |
probably damaging |
Het |
| Ext1 |
G |
T |
15: 52,932,124 (GRCm39) |
P726Q |
probably damaging |
Het |
| Hdac1 |
G |
A |
4: 129,428,463 (GRCm39) |
R36C |
probably damaging |
Het |
| Ift172 |
A |
G |
5: 31,424,029 (GRCm39) |
Y715H |
probably damaging |
Het |
| Inpp4b |
T |
C |
8: 82,583,328 (GRCm39) |
F144S |
probably damaging |
Het |
| Lepr |
T |
A |
4: 101,622,576 (GRCm39) |
I452N |
probably benign |
Het |
| Mok |
T |
C |
12: 110,781,634 (GRCm39) |
H6R |
probably benign |
Het |
| Myef2 |
A |
T |
2: 124,940,375 (GRCm39) |
M392K |
probably damaging |
Het |
| Ncoa2 |
G |
A |
1: 13,294,837 (GRCm39) |
P28S |
probably damaging |
Het |
| Nfrkb |
A |
G |
9: 31,300,310 (GRCm39) |
T34A |
possibly damaging |
Het |
| Nkx1-1 |
G |
A |
5: 33,588,598 (GRCm39) |
A230V |
probably benign |
Het |
| Or10ag2 |
T |
A |
2: 87,248,500 (GRCm39) |
L34H |
probably damaging |
Het |
| Or5an1b |
T |
A |
19: 12,299,885 (GRCm39) |
Y102F |
probably damaging |
Het |
| Ryr1 |
T |
G |
7: 28,767,867 (GRCm39) |
K2890T |
probably damaging |
Het |
| Siae |
G |
T |
9: 37,539,092 (GRCm39) |
D168Y |
probably damaging |
Het |
| Smarcc1 |
A |
T |
9: 109,993,877 (GRCm39) |
T241S |
possibly damaging |
Het |
| Steap2 |
T |
A |
5: 5,723,501 (GRCm39) |
I460F |
probably damaging |
Het |
| Strap |
A |
G |
6: 137,727,590 (GRCm39) |
T345A |
probably benign |
Het |
| Tex2 |
A |
G |
11: 106,394,513 (GRCm39) |
V1099A |
unknown |
Het |
| Thsd7a |
T |
C |
6: 12,331,943 (GRCm39) |
T1290A |
possibly damaging |
Het |
| Unc80 |
G |
A |
1: 66,716,514 (GRCm39) |
G2878D |
probably damaging |
Het |
| Vmn2r63 |
C |
T |
7: 42,583,004 (GRCm39) |
|
probably null |
Het |
| Xirp2 |
C |
T |
2: 67,340,258 (GRCm39) |
T833I |
probably damaging |
Het |
| Zcchc2 |
T |
C |
1: 105,955,153 (GRCm39) |
S615P |
probably damaging |
Het |
| Zfp148 |
C |
G |
16: 33,317,116 (GRCm39) |
S554* |
probably null |
Het |
|
| Other mutations in Fam151b |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00799:Fam151b
|
APN |
13 |
92,614,361 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02253:Fam151b
|
APN |
13 |
92,614,435 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL03084:Fam151b
|
APN |
13 |
92,604,534 (GRCm39) |
missense |
probably damaging |
0.97 |
|
IGL03130:Fam151b
|
APN |
13 |
92,586,701 (GRCm39) |
missense |
probably benign |
0.01 |
|
P0015:Fam151b
|
UTSW |
13 |
92,604,452 (GRCm39) |
critical splice donor site |
probably null |
|
|
R0067:Fam151b
|
UTSW |
13 |
92,610,504 (GRCm39) |
missense |
probably benign |
0.08 |
|
R0067:Fam151b
|
UTSW |
13 |
92,610,504 (GRCm39) |
missense |
probably benign |
0.08 |
|
R0348:Fam151b
|
UTSW |
13 |
92,586,689 (GRCm39) |
missense |
probably benign |
0.00 |
|
R1404:Fam151b
|
UTSW |
13 |
92,610,480 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1404:Fam151b
|
UTSW |
13 |
92,610,480 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1482:Fam151b
|
UTSW |
13 |
92,586,674 (GRCm39) |
missense |
probably benign |
0.03 |
|
R1837:Fam151b
|
UTSW |
13 |
92,610,639 (GRCm39) |
intron |
probably benign |
|
|
R1891:Fam151b
|
UTSW |
13 |
92,586,678 (GRCm39) |
missense |
probably benign |
0.00 |
|
R1957:Fam151b
|
UTSW |
13 |
92,614,411 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1957:Fam151b
|
UTSW |
13 |
92,614,410 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4583:Fam151b
|
UTSW |
13 |
92,604,617 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6762:Fam151b
|
UTSW |
13 |
92,604,558 (GRCm39) |
missense |
possibly damaging |
0.79 |
|
R8153:Fam151b
|
UTSW |
13 |
92,614,410 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8881:Fam151b
|
UTSW |
13 |
92,604,630 (GRCm39) |
missense |
probably benign |
0.00 |
|
R8950:Fam151b
|
UTSW |
13 |
92,610,567 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9497:Fam151b
|
UTSW |
13 |
92,610,621 (GRCm39) |
missense |
probably damaging |
0.99 |
|
X0021:Fam151b
|
UTSW |
13 |
92,586,734 (GRCm39) |
missense |
probably benign |
0.06 |
|
| Predicted Primers |
PCR Primer
(F):5'- GCTCAAGACATTCTGCTTGG -3'
(R):5'- AATGGTTATCTACGAGATGATGGG -3'
Sequencing Primer
(F):5'- TCACAAGTTTGAGGCTAGCC -3'
(R):5'- ATCTACGAGATGATGGGTATGC -3'
|
| Posted On |
2014-10-02 |
Incidental Mutation