Incidental Mutation 'R8464:Fam151a'
| ID |
656702 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Fam151a
|
| Ensembl Gene |
ENSMUSG00000034871 |
| Gene Name |
family with sequence simliarity 151, member A |
| Synonyms |
|
| MMRRC Submission |
067908-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R8464 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
4 |
| Chromosomal Location |
106591112-106605489 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 106605102 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Methionine to Lysine
at position 488
(M488K)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000047860
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000047620]
[ENSMUST00000065253]
[ENSMUST00000102762]
[ENSMUST00000140541]
|
| AlphaFold |
Q8QZW3 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000047620
AA Change: M488K
PolyPhen 2
Score 0.043 (Sensitivity: 0.94; Specificity: 0.83)
|
| SMART Domains |
Protein: ENSMUSP00000047860
Gene: ENSMUSG00000034871
AA Change: M488K
| Domain | Start | End | E-Value | Type |
|---|
|
transmembrane domain
|
12 |
34 |
N/A |
INTRINSIC |
|
Pfam:DUF2181
|
70 |
310 |
2.9e-107 |
PFAM |
|
Pfam:DUF2181
|
342 |
579 |
8e-47 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000065253
|
| SMART Domains |
Protein: ENSMUSP00000069636
Gene: ENSMUSG00000034853
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:4HBT
|
84 |
157 |
7e-10 |
PFAM |
|
Pfam:4HBT
|
255 |
331 |
2.6e-13 |
PFAM |
|
START
|
405 |
603 |
1.49e-27 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000102762
|
| SMART Domains |
Protein: ENSMUSP00000099823
Gene: ENSMUSG00000034853
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:4HBT
|
64 |
136 |
7.2e-10 |
PFAM |
|
Pfam:4HBT
|
235 |
311 |
6.7e-13 |
PFAM |
|
START
|
385 |
583 |
1.49e-27 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000140541
|
| SMART Domains |
Protein: ENSMUSP00000124567
Gene: ENSMUSG00000034853
| Domain | Start | End | E-Value | Type |
|---|
|
PDB:3B7K|C
|
32 |
71 |
3e-10 |
PDB |
|
SCOP:d1lo7a_
|
37 |
69 |
2e-3 |
SMART |
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.7%
- 20x: 99.1%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 40 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 3425401B19Rik |
T |
C |
14: 32,381,934 (GRCm39) |
R1344G |
possibly damaging |
Het |
| 4933402J07Rik |
C |
A |
8: 88,315,649 (GRCm39) |
D246E |
probably damaging |
Het |
| Appl1 |
T |
A |
14: 26,674,985 (GRCm39) |
K191* |
probably null |
Het |
| Bptf |
T |
C |
11: 107,022,168 (GRCm39) |
D194G |
probably benign |
Het |
| Cacna2d2 |
T |
C |
9: 107,389,206 (GRCm39) |
V223A |
probably damaging |
Het |
| Ccdc13 |
T |
C |
9: 121,649,824 (GRCm39) |
K208E |
probably damaging |
Het |
| Chd7 |
T |
C |
4: 8,811,465 (GRCm39) |
V813A |
probably benign |
Het |
| Chst14 |
T |
C |
2: 118,757,524 (GRCm39) |
V131A |
probably benign |
Het |
| Ctla4 |
A |
G |
1: 60,951,686 (GRCm39) |
T72A |
probably damaging |
Het |
| Dnmt3a |
T |
C |
12: 3,949,635 (GRCm39) |
S531P |
probably benign |
Het |
| Erbb4 |
T |
C |
1: 68,348,785 (GRCm39) |
I531V |
probably benign |
Het |
| Foxa1 |
C |
A |
12: 57,589,246 (GRCm39) |
A325S |
probably benign |
Het |
| Ighv8-5 |
C |
T |
12: 115,031,309 (GRCm39) |
D77N |
probably benign |
Het |
| Itga3 |
C |
A |
11: 94,953,566 (GRCm39) |
A259S |
probably benign |
Het |
| Kcnh4 |
T |
C |
11: 100,648,010 (GRCm39) |
N118D |
probably damaging |
Het |
| Kif5b |
A |
T |
18: 6,225,381 (GRCm39) |
N216K |
probably damaging |
Het |
| Lipo2 |
C |
T |
19: 33,726,023 (GRCm39) |
M76I |
probably benign |
Het |
| Man2b1 |
G |
A |
8: 85,820,772 (GRCm39) |
A657T |
possibly damaging |
Het |
| Mms19 |
A |
C |
19: 41,935,522 (GRCm39) |
D831E |
probably damaging |
Het |
| Muc21 |
T |
G |
17: 35,933,098 (GRCm39) |
|
probably benign |
Het |
| Myo1a |
G |
T |
10: 127,554,453 (GRCm39) |
A808S |
probably benign |
Het |
| Myo7b |
A |
T |
18: 32,095,757 (GRCm39) |
W1834R |
probably benign |
Het |
| Mypn |
T |
A |
10: 62,966,977 (GRCm39) |
K900* |
probably null |
Het |
| Ogfr |
AGACCCCAAAAGCCAGGTGGGGCCAGAGGACCCCAAAAGCCAGGTGGGGCCAGAGGACCCCAAAAGCCAGGTGGGGCCAGAGGACCCAAAAGGCCAGGTGGAGCCAGAGGACCCAAAAGGCCAGGTGGGGCCAGAAGACCCAAAAGGCCAGGTGGGGCCAGAGGACCCAAAAGGCCAGGTGGGGCCAGAGGACCCCAAAAGCCAGGTGGGGCCAGAGGACCCCAAAAGCCAGGTGGAGCCAGAGGACCCCAAAAGCCAGGTGGAGCCAGAGGACCCCAAAAGCCAGGTGGAGCCAGAGGACCCCAAAAGCCAGGTGGGGCCAGAGGACCCCCAAAGCCAGGTGGGGCCAGAG |
AGACCCCAAAAGCCAGGTGGGGCCAGAGGACCCCAAAAGCCAGGTGGGGCCAGAGGACCCAAAAGGCCAGGTGGAGCCAGAGGACCCAAAAGGCCAGGTGGGGCCAGAAGACCCAAAAGGCCAGGTGGGGCCAGAGGACCCAAAAGGCCAGGTGGGGCCAGAGGACCCCAAAAGCCAGGTGGGGCCAGAGGACCCCAAAAGCCAGGTGGAGCCAGAGGACCCCAAAAGCCAGGTGGAGCCAGAGGACCCCAAAAGCCAGGTGGAGCCAGAGGACCCCAAAAGCCAGGTGGGGCCAGAGGACCCCCAAAGCCAGGTGGGGCCAGAG |
2: 180,236,850 (GRCm39) |
|
probably benign |
Het |
| Or4b1d |
G |
T |
2: 89,968,947 (GRCm39) |
H179N |
possibly damaging |
Het |
| Or4k40 |
A |
G |
2: 111,251,192 (GRCm39) |
Y35H |
probably damaging |
Het |
| Or6c212 |
A |
T |
10: 129,558,783 (GRCm39) |
I210N |
possibly damaging |
Het |
| Osgepl1 |
A |
G |
1: 53,357,299 (GRCm39) |
T154A |
probably damaging |
Het |
| Pacsin2 |
A |
T |
15: 83,263,384 (GRCm39) |
Y82* |
probably null |
Het |
| Pomgnt1 |
T |
C |
4: 116,009,348 (GRCm39) |
Y104H |
probably damaging |
Het |
| Robo3 |
T |
C |
9: 37,332,726 (GRCm39) |
S857G |
probably damaging |
Het |
| Scn9a |
T |
C |
2: 66,396,625 (GRCm39) |
I89M |
probably damaging |
Het |
| Sdhd |
T |
C |
9: 50,508,431 (GRCm39) |
H145R |
probably benign |
Het |
| Selenov |
C |
T |
7: 27,987,897 (GRCm39) |
R260Q |
probably benign |
Het |
| Spag6l |
T |
C |
16: 16,580,898 (GRCm39) |
E483G |
probably damaging |
Het |
| Ssh2 |
T |
A |
11: 77,345,079 (GRCm39) |
Y1021* |
probably null |
Het |
| Syne2 |
C |
T |
12: 76,012,546 (GRCm39) |
A2580V |
probably benign |
Het |
| Taf6 |
T |
C |
5: 138,180,924 (GRCm39) |
E219G |
probably damaging |
Het |
| Ttc27 |
A |
G |
17: 75,024,925 (GRCm39) |
T7A |
probably benign |
Het |
| Unc80 |
A |
G |
1: 66,512,423 (GRCm39) |
K111R |
probably damaging |
Het |
|
| Other mutations in Fam151a |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01303:Fam151a
|
APN |
4 |
106,604,790 (GRCm39) |
missense |
possibly damaging |
0.56 |
|
IGL02095:Fam151a
|
APN |
4 |
106,605,072 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02170:Fam151a
|
APN |
4 |
106,592,795 (GRCm39) |
critical splice donor site |
probably null |
|
|
IGL02725:Fam151a
|
APN |
4 |
106,605,211 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R0025:Fam151a
|
UTSW |
4 |
106,605,371 (GRCm39) |
missense |
probably benign |
0.16 |
|
R0114:Fam151a
|
UTSW |
4 |
106,591,201 (GRCm39) |
missense |
possibly damaging |
0.63 |
|
R0620:Fam151a
|
UTSW |
4 |
106,605,128 (GRCm39) |
missense |
probably benign |
0.06 |
|
R1345:Fam151a
|
UTSW |
4 |
106,599,491 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R1482:Fam151a
|
UTSW |
4 |
106,602,876 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1965:Fam151a
|
UTSW |
4 |
106,591,112 (GRCm39) |
unclassified |
probably benign |
|
|
R2086:Fam151a
|
UTSW |
4 |
106,592,760 (GRCm39) |
splice site |
probably null |
|
|
R4078:Fam151a
|
UTSW |
4 |
106,604,954 (GRCm39) |
missense |
probably benign |
0.31 |
|
R4677:Fam151a
|
UTSW |
4 |
106,605,456 (GRCm39) |
missense |
possibly damaging |
0.72 |
|
R6110:Fam151a
|
UTSW |
4 |
106,605,395 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R6188:Fam151a
|
UTSW |
4 |
106,602,696 (GRCm39) |
missense |
possibly damaging |
0.61 |
|
R6288:Fam151a
|
UTSW |
4 |
106,605,341 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R6526:Fam151a
|
UTSW |
4 |
106,591,201 (GRCm39) |
missense |
possibly damaging |
0.63 |
|
R7298:Fam151a
|
UTSW |
4 |
106,592,725 (GRCm39) |
missense |
possibly damaging |
0.80 |
|
R7341:Fam151a
|
UTSW |
4 |
106,592,707 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7363:Fam151a
|
UTSW |
4 |
106,602,681 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7573:Fam151a
|
UTSW |
4 |
106,600,502 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8368:Fam151a
|
UTSW |
4 |
106,604,190 (GRCm39) |
missense |
probably benign |
0.03 |
|
R8503:Fam151a
|
UTSW |
4 |
106,603,377 (GRCm39) |
missense |
possibly damaging |
0.78 |
|
R8822:Fam151a
|
UTSW |
4 |
106,602,842 (GRCm39) |
missense |
probably benign |
0.12 |
|
R8840:Fam151a
|
UTSW |
4 |
106,602,819 (GRCm39) |
missense |
probably benign |
0.06 |
|
R8927:Fam151a
|
UTSW |
4 |
106,603,242 (GRCm39) |
unclassified |
probably benign |
|
|
R9062:Fam151a
|
UTSW |
4 |
106,605,306 (GRCm39) |
missense |
probably benign |
0.01 |
|
R9076:Fam151a
|
UTSW |
4 |
106,603,254 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9140:Fam151a
|
UTSW |
4 |
106,605,344 (GRCm39) |
nonsense |
probably null |
|
|
R9663:Fam151a
|
UTSW |
4 |
106,604,894 (GRCm39) |
missense |
possibly damaging |
0.84 |
|
| Predicted Primers |
PCR Primer
(F):5'- TAGTGGAACCCGAAGCTCTC -3'
(R):5'- AATCCACATGGCTGTTCCCAG -3'
Sequencing Primer
(F):5'- ATCCCTGGCCACGTTAGCAC -3'
(R):5'- TACACTGTGACAGTGGCT -3'
|
| Posted On |
2021-01-18 |
Incidental Mutation