Incidental Mutation 'R1345:Fam151a'
ID |
156454 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Fam151a
|
Ensembl Gene |
ENSMUSG00000034871 |
Gene Name |
family with sequence simliarity 151, member A |
Synonyms |
|
MMRRC Submission |
039410-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R1345 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
4 |
Chromosomal Location |
106591112-106605489 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 106599491 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Lysine to Glutamic Acid
at position 142
(K142E)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000047860
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000047620]
[ENSMUST00000065253]
[ENSMUST00000102762]
|
AlphaFold |
Q8QZW3 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000047620
AA Change: K142E
PolyPhen 2
Score 0.990 (Sensitivity: 0.72; Specificity: 0.97)
|
SMART Domains |
Protein: ENSMUSP00000047860 Gene: ENSMUSG00000034871 AA Change: K142E
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 |
|
Meta Mutation Damage Score |
0.4353 |
Coding Region Coverage |
- 1x: 99.0%
- 3x: 98.2%
- 10x: 95.9%
- 20x: 92.3%
|
Validation Efficiency |
100% (45/45) |
Allele List at MGI |
|
Other mutations in this stock |
Total: 43 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
1700001K19Rik |
C |
T |
12: 110,635,152 (GRCm39) |
V129I |
probably damaging |
Het |
Akr1c18 |
T |
C |
13: 4,195,213 (GRCm39) |
T82A |
possibly damaging |
Het |
Alx1 |
A |
G |
10: 102,864,353 (GRCm39) |
S39P |
possibly damaging |
Het |
Atr |
A |
G |
9: 95,802,408 (GRCm39) |
T1767A |
probably benign |
Het |
Brf1 |
A |
T |
12: 112,924,728 (GRCm39) |
|
probably null |
Het |
Cd86 |
A |
G |
16: 36,438,686 (GRCm39) |
|
probably null |
Het |
Cdan1 |
A |
G |
2: 120,549,620 (GRCm39) |
|
probably null |
Het |
Cntln |
A |
G |
4: 84,892,228 (GRCm39) |
D371G |
probably damaging |
Het |
Cypt4 |
A |
G |
9: 24,536,515 (GRCm39) |
T2A |
possibly damaging |
Het |
Dll1 |
G |
T |
17: 15,593,817 (GRCm39) |
Y183* |
probably null |
Het |
Dnmt1 |
G |
T |
9: 20,819,814 (GRCm39) |
P1444Q |
probably damaging |
Het |
Ern2 |
A |
G |
7: 121,776,993 (GRCm39) |
L309P |
probably damaging |
Het |
Fbn1 |
T |
C |
2: 125,156,591 (GRCm39) |
E2378G |
probably damaging |
Het |
Hsh2d |
G |
A |
8: 72,954,304 (GRCm39) |
D229N |
probably benign |
Het |
Kdm5b |
A |
C |
1: 134,558,288 (GRCm39) |
T1432P |
possibly damaging |
Het |
Kif2a |
G |
A |
13: 107,130,423 (GRCm39) |
S15F |
probably damaging |
Het |
Lzic |
A |
G |
4: 149,571,308 (GRCm39) |
E31G |
probably damaging |
Het |
Mmp16 |
A |
G |
4: 18,112,021 (GRCm39) |
M466V |
probably benign |
Het |
Mtm1 |
T |
C |
X: 70,330,837 (GRCm39) |
V203A |
probably benign |
Het |
Muc21 |
T |
A |
17: 35,932,489 (GRCm39) |
|
probably benign |
Het |
Neurl4 |
A |
G |
11: 69,794,702 (GRCm39) |
M249V |
probably benign |
Het |
Or6c76b |
T |
C |
10: 129,692,759 (GRCm39) |
I124T |
probably damaging |
Het |
Plxna2 |
T |
C |
1: 194,326,794 (GRCm39) |
Y243H |
probably damaging |
Het |
Rbm44 |
A |
G |
1: 91,080,481 (GRCm39) |
N223S |
probably damaging |
Het |
Sel1l3 |
G |
T |
5: 53,357,559 (GRCm39) |
H144Q |
possibly damaging |
Het |
Simc1 |
A |
ANNNNNNNNNNNNNNNNNNNNN |
13: 54,673,060 (GRCm39) |
|
probably benign |
Het |
Snrpb2 |
A |
G |
2: 142,907,086 (GRCm39) |
|
probably benign |
Het |
Spata31d1d |
T |
G |
13: 59,873,838 (GRCm39) |
K1232N |
possibly damaging |
Het |
Spink5 |
A |
T |
18: 44,123,749 (GRCm39) |
E345D |
possibly damaging |
Het |
Sucla2 |
C |
T |
14: 73,798,074 (GRCm39) |
|
probably benign |
Het |
Tarbp1 |
T |
C |
8: 127,175,069 (GRCm39) |
D789G |
probably benign |
Het |
Tedc2 |
T |
A |
17: 24,435,291 (GRCm39) |
E366V |
probably damaging |
Het |
Tedc2 |
C |
A |
17: 24,435,292 (GRCm39) |
E366* |
probably null |
Het |
Tmem232 |
T |
C |
17: 65,757,401 (GRCm39) |
N264S |
possibly damaging |
Het |
Trim43b |
G |
C |
9: 88,967,725 (GRCm39) |
L303V |
possibly damaging |
Het |
Tulp2 |
C |
A |
7: 45,168,145 (GRCm39) |
R298S |
probably benign |
Het |
Usp42 |
A |
G |
5: 143,703,088 (GRCm39) |
V511A |
probably damaging |
Het |
Vav1 |
A |
T |
17: 57,608,214 (GRCm39) |
T321S |
probably benign |
Het |
Vmn1r169 |
A |
C |
7: 23,277,247 (GRCm39) |
H213P |
probably damaging |
Het |
Vmn1r170 |
C |
T |
7: 23,305,787 (GRCm39) |
T63I |
probably benign |
Het |
Vmn2r103 |
T |
G |
17: 20,014,509 (GRCm39) |
W434G |
probably damaging |
Het |
Zfp407 |
C |
T |
18: 84,577,898 (GRCm39) |
A1072T |
probably benign |
Het |
Zfp7 |
T |
C |
15: 76,774,908 (GRCm39) |
S317P |
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 |
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 |
R8464:Fam151a
|
UTSW |
4 |
106,605,102 (GRCm39) |
missense |
probably benign |
0.04 |
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'- AGTGCGTGAGCAGACACACAAC -3'
(R):5'- TGACCCACGAGGGACATTTTGACC -3'
Sequencing Primer
(F):5'- AGTGCTCATTGAATTCTGCCTC -3'
(R):5'- AGGGACATTTTGACCCTGTCTG -3'
|
Posted On |
2014-02-11 |