Incidental Mutation 'R2570:Fam135a'
ID |
252300 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Fam135a
|
Ensembl Gene |
ENSMUSG00000026153 |
Gene Name |
family with sequence similarity 135, member A |
Synonyms |
4921533L14Rik |
MMRRC Submission |
040428-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.124)
|
Stock # |
R2570 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
1 |
Chromosomal Location |
24050174-24139422 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to T
at 24061045 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Valine to Glutamic Acid
at position 1114
(V1114E)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000139633
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000027337]
[ENSMUST00000185807]
[ENSMUST00000186331]
[ENSMUST00000187369]
[ENSMUST00000187752]
[ENSMUST00000188712]
|
AlphaFold |
Q6NS59 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000027337
AA Change: V1327E
PolyPhen 2
Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)
|
SMART Domains |
Protein: ENSMUSP00000027337 Gene: ENSMUSG00000026153 AA Change: V1327E
Domain | Start | End | E-Value | Type |
Pfam:DUF3657
|
111 |
172 |
1.9e-19 |
PFAM |
coiled coil region
|
270 |
295 |
N/A |
INTRINSIC |
low complexity region
|
489 |
502 |
N/A |
INTRINSIC |
low complexity region
|
842 |
853 |
N/A |
INTRINSIC |
low complexity region
|
1072 |
1085 |
N/A |
INTRINSIC |
Blast:LRRNT
|
1139 |
1172 |
4e-6 |
BLAST |
low complexity region
|
1173 |
1184 |
N/A |
INTRINSIC |
Pfam:DUF676
|
1235 |
1431 |
9e-65 |
PFAM |
Pfam:PGAP1
|
1237 |
1440 |
3.9e-8 |
PFAM |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000185807
|
SMART Domains |
Protein: ENSMUSP00000140078 Gene: ENSMUSG00000026153
Domain | Start | End | E-Value | Type |
Blast:LRRNT
|
27 |
60 |
4e-7 |
BLAST |
low complexity region
|
61 |
72 |
N/A |
INTRINSIC |
Pfam:DUF676
|
104 |
161 |
2.2e-15 |
PFAM |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000186331
|
SMART Domains |
Protein: ENSMUSP00000140947 Gene: ENSMUSG00000026153
Domain | Start | End | E-Value | Type |
low complexity region
|
172 |
185 |
N/A |
INTRINSIC |
Blast:LRRNT
|
239 |
272 |
1e-6 |
BLAST |
low complexity region
|
273 |
284 |
N/A |
INTRINSIC |
|
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000187369
AA Change: V1131E
PolyPhen 2
Score 0.918 (Sensitivity: 0.81; Specificity: 0.94)
|
SMART Domains |
Protein: ENSMUSP00000140766 Gene: ENSMUSG00000026153 AA Change: V1131E
Domain | Start | End | E-Value | Type |
Pfam:DUF3657
|
111 |
173 |
3e-15 |
PFAM |
coiled coil region
|
270 |
295 |
N/A |
INTRINSIC |
Pfam:DUF3657
|
312 |
369 |
1.2e-7 |
PFAM |
low complexity region
|
646 |
657 |
N/A |
INTRINSIC |
low complexity region
|
876 |
889 |
N/A |
INTRINSIC |
Blast:LRRNT
|
943 |
976 |
4e-6 |
BLAST |
low complexity region
|
977 |
988 |
N/A |
INTRINSIC |
Pfam:DUF676
|
1039 |
1235 |
6.8e-62 |
PFAM |
Pfam:PGAP1
|
1041 |
1259 |
8.1e-5 |
PFAM |
Pfam:LCAT
|
1097 |
1203 |
2.3e-4 |
PFAM |
|
Predicted Effect |
unknown
Transcript: ENSMUST00000187619
AA Change: V128E
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000187752
AA Change: V1114E
PolyPhen 2
Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)
|
SMART Domains |
Protein: ENSMUSP00000139633 Gene: ENSMUSG00000026153 AA Change: V1114E
Domain | Start | End | E-Value | Type |
Pfam:DUF3657
|
68 |
130 |
3e-15 |
PFAM |
Pfam:DUF3657
|
295 |
352 |
1.2e-7 |
PFAM |
low complexity region
|
629 |
640 |
N/A |
INTRINSIC |
low complexity region
|
859 |
872 |
N/A |
INTRINSIC |
Blast:LRRNT
|
926 |
959 |
4e-6 |
BLAST |
low complexity region
|
960 |
971 |
N/A |
INTRINSIC |
Pfam:DUF676
|
1022 |
1218 |
6.7e-62 |
PFAM |
Pfam:PGAP1
|
1024 |
1242 |
8e-5 |
PFAM |
Pfam:LCAT
|
1080 |
1186 |
2.2e-4 |
PFAM |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000188712
|
Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.3%
- 20x: 94.9%
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 68 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Acad10 |
T |
A |
5: 121,768,267 (GRCm39) |
N763I |
probably damaging |
Het |
Actr8 |
T |
C |
14: 29,709,239 (GRCm39) |
V281A |
probably damaging |
Het |
Adam1b |
A |
T |
5: 121,639,811 (GRCm39) |
N411K |
probably damaging |
Het |
Adamdec1 |
T |
A |
14: 68,816,657 (GRCm39) |
Q77L |
probably damaging |
Het |
Adgre4 |
T |
A |
17: 56,085,878 (GRCm39) |
F59Y |
possibly damaging |
Het |
Akr1c18 |
T |
C |
13: 4,192,163 (GRCm39) |
N178S |
probably benign |
Het |
Aldh1a7 |
T |
A |
19: 20,677,320 (GRCm39) |
T434S |
probably benign |
Het |
Bcl10 |
T |
A |
3: 145,638,785 (GRCm39) |
N142K |
probably benign |
Het |
C1qc |
T |
C |
4: 136,617,402 (GRCm39) |
I231M |
probably benign |
Het |
Cacna1b |
A |
T |
2: 24,496,649 (GRCm39) |
L2307* |
probably null |
Het |
Cadm2 |
G |
A |
16: 66,612,271 (GRCm39) |
S106L |
probably damaging |
Het |
Cdc42bpa |
G |
A |
1: 179,977,742 (GRCm39) |
R1518Q |
possibly damaging |
Het |
Cdk12 |
T |
G |
11: 98,094,618 (GRCm39) |
M142R |
possibly damaging |
Het |
Csmd3 |
CCTTTGCGCTT |
CCTT |
15: 47,604,632 (GRCm39) |
|
probably null |
Het |
Cspg4b |
C |
T |
13: 113,455,121 (GRCm39) |
T389I |
probably benign |
Het |
Cyp2c50 |
C |
G |
19: 40,078,764 (GRCm39) |
H90D |
probably benign |
Het |
Dach1 |
A |
G |
14: 98,138,847 (GRCm39) |
M480T |
probably benign |
Het |
Dennd1a |
A |
T |
2: 37,734,795 (GRCm39) |
F57L |
probably damaging |
Het |
Dhcr24 |
T |
C |
4: 106,443,029 (GRCm39) |
F355L |
probably benign |
Het |
Drc1 |
A |
G |
5: 30,512,609 (GRCm39) |
R339G |
probably damaging |
Het |
Efcab3 |
T |
A |
11: 104,624,490 (GRCm39) |
S840R |
probably damaging |
Het |
Efna5 |
A |
T |
17: 63,188,023 (GRCm39) |
Y35N |
probably benign |
Het |
Ehmt1 |
A |
G |
2: 24,705,753 (GRCm39) |
V811A |
probably damaging |
Het |
Frmd8 |
C |
A |
19: 5,924,740 (GRCm39) |
R28L |
probably damaging |
Het |
Gm9936 |
A |
G |
5: 114,995,605 (GRCm39) |
|
probably benign |
Het |
Hgsnat |
C |
T |
8: 26,435,280 (GRCm39) |
W618* |
probably null |
Het |
Itgal |
T |
C |
7: 126,913,268 (GRCm39) |
F622L |
probably damaging |
Het |
Kalrn |
C |
T |
16: 34,130,865 (GRCm39) |
E451K |
probably damaging |
Het |
Kat2a |
A |
T |
11: 100,601,648 (GRCm39) |
F256I |
probably damaging |
Het |
Lama4 |
A |
T |
10: 38,951,354 (GRCm39) |
D1033V |
possibly damaging |
Het |
Lama4 |
T |
A |
10: 38,982,043 (GRCm39) |
D1757E |
probably damaging |
Het |
Laptm5 |
T |
C |
4: 130,659,358 (GRCm39) |
Y212H |
probably damaging |
Het |
Lsm10 |
T |
C |
4: 125,991,716 (GRCm39) |
L24P |
probably damaging |
Het |
Mtcl3 |
A |
T |
10: 29,022,761 (GRCm39) |
Q36L |
possibly damaging |
Het |
Mtfp1 |
T |
C |
11: 4,044,504 (GRCm39) |
E27G |
probably damaging |
Het |
Ncaph2 |
C |
A |
15: 89,254,678 (GRCm39) |
D399E |
probably benign |
Het |
Ncor2 |
T |
C |
5: 125,105,864 (GRCm39) |
|
probably null |
Het |
Nek9 |
A |
C |
12: 85,379,320 (GRCm39) |
Y195* |
probably null |
Het |
Npas1 |
T |
C |
7: 16,208,628 (GRCm39) |
D83G |
probably damaging |
Het |
Nrsn2 |
A |
T |
2: 152,211,741 (GRCm39) |
F97I |
possibly damaging |
Het |
Oas1c |
T |
C |
5: 120,943,503 (GRCm39) |
N10S |
probably benign |
Het |
Or2ag12 |
A |
G |
7: 106,276,874 (GRCm39) |
I273T |
probably benign |
Het |
Or55b10 |
T |
C |
7: 102,143,106 (GRCm39) |
N292S |
probably damaging |
Het |
Or7e165 |
T |
A |
9: 19,695,305 (GRCm39) |
L292Q |
probably damaging |
Het |
Pcdha4 |
A |
T |
18: 37,086,665 (GRCm39) |
T283S |
probably benign |
Het |
Pdk1 |
A |
C |
2: 71,703,904 (GRCm39) |
D64A |
possibly damaging |
Het |
Pramel17 |
T |
C |
4: 101,694,443 (GRCm39) |
T147A |
probably benign |
Het |
Ptpdc1 |
C |
T |
13: 48,739,539 (GRCm39) |
A631T |
probably benign |
Het |
Rasal2 |
G |
T |
1: 156,988,870 (GRCm39) |
A660E |
possibly damaging |
Het |
Sgpp2 |
T |
A |
1: 78,336,787 (GRCm39) |
V55E |
possibly damaging |
Het |
Shank2 |
A |
T |
7: 143,622,507 (GRCm39) |
I214F |
probably damaging |
Het |
Slfn14 |
T |
C |
11: 83,174,433 (GRCm39) |
N186S |
probably benign |
Het |
Sptbn5 |
A |
T |
2: 119,879,121 (GRCm39) |
|
noncoding transcript |
Het |
Stradb |
C |
T |
1: 59,027,743 (GRCm39) |
T91I |
probably damaging |
Het |
Sulf2 |
T |
C |
2: 165,927,721 (GRCm39) |
I359V |
probably benign |
Het |
Tbl3 |
A |
T |
17: 24,922,290 (GRCm39) |
M405K |
possibly damaging |
Het |
Tecta |
G |
T |
9: 42,243,848 (GRCm39) |
D2001E |
probably damaging |
Het |
Tectb |
C |
G |
19: 55,169,431 (GRCm39) |
|
probably benign |
Het |
Tgfbi |
T |
A |
13: 56,786,521 (GRCm39) |
|
probably null |
Het |
Tmem132a |
A |
T |
19: 10,837,106 (GRCm39) |
L612Q |
probably null |
Het |
Tnf |
T |
C |
17: 35,419,476 (GRCm39) |
N102S |
probably damaging |
Het |
Trib3 |
A |
T |
2: 152,185,156 (GRCm39) |
V31D |
probably benign |
Het |
Ube2q2 |
T |
A |
9: 55,099,140 (GRCm39) |
F248L |
probably benign |
Het |
Usf3 |
T |
C |
16: 44,036,744 (GRCm39) |
V408A |
probably benign |
Het |
Vmn1r159 |
T |
C |
7: 22,542,307 (GRCm39) |
M242V |
probably benign |
Het |
Vmn2r105 |
A |
T |
17: 20,447,585 (GRCm39) |
L413H |
probably damaging |
Het |
Zbtb2 |
T |
G |
10: 4,318,673 (GRCm39) |
N451T |
probably damaging |
Het |
Zfp593 |
C |
A |
4: 133,972,869 (GRCm39) |
|
probably benign |
Het |
|
Other mutations in Fam135a |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL00987:Fam135a
|
APN |
1 |
24,094,979 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL01993:Fam135a
|
APN |
1 |
24,094,992 (GRCm39) |
missense |
probably damaging |
0.99 |
IGL02172:Fam135a
|
APN |
1 |
24,063,861 (GRCm39) |
critical splice donor site |
probably null |
|
IGL02832:Fam135a
|
APN |
1 |
24,067,714 (GRCm39) |
missense |
probably benign |
0.00 |
IGL03075:Fam135a
|
APN |
1 |
24,069,987 (GRCm39) |
splice site |
probably benign |
|
IGL03197:Fam135a
|
APN |
1 |
24,083,263 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL03214:Fam135a
|
APN |
1 |
24,092,357 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL03355:Fam135a
|
APN |
1 |
24,068,249 (GRCm39) |
missense |
possibly damaging |
0.93 |
PIT4434001:Fam135a
|
UTSW |
1 |
24,068,276 (GRCm39) |
missense |
probably benign |
|
R0276:Fam135a
|
UTSW |
1 |
24,107,045 (GRCm39) |
missense |
probably damaging |
1.00 |
R1429:Fam135a
|
UTSW |
1 |
24,083,348 (GRCm39) |
missense |
probably damaging |
1.00 |
R1553:Fam135a
|
UTSW |
1 |
24,060,951 (GRCm39) |
missense |
probably damaging |
0.97 |
R1582:Fam135a
|
UTSW |
1 |
24,068,398 (GRCm39) |
missense |
probably damaging |
1.00 |
R1686:Fam135a
|
UTSW |
1 |
24,068,887 (GRCm39) |
missense |
probably benign |
0.05 |
R1732:Fam135a
|
UTSW |
1 |
24,065,734 (GRCm39) |
missense |
possibly damaging |
0.71 |
R1859:Fam135a
|
UTSW |
1 |
24,069,306 (GRCm39) |
missense |
probably damaging |
1.00 |
R1954:Fam135a
|
UTSW |
1 |
24,068,683 (GRCm39) |
missense |
probably damaging |
1.00 |
R2266:Fam135a
|
UTSW |
1 |
24,067,878 (GRCm39) |
missense |
probably benign |
0.22 |
R3725:Fam135a
|
UTSW |
1 |
24,096,515 (GRCm39) |
nonsense |
probably null |
|
R3740:Fam135a
|
UTSW |
1 |
24,053,892 (GRCm39) |
missense |
probably damaging |
0.99 |
R3741:Fam135a
|
UTSW |
1 |
24,053,892 (GRCm39) |
missense |
probably damaging |
0.99 |
R3765:Fam135a
|
UTSW |
1 |
24,094,958 (GRCm39) |
missense |
possibly damaging |
0.95 |
R3792:Fam135a
|
UTSW |
1 |
24,067,392 (GRCm39) |
missense |
probably benign |
0.14 |
R3940:Fam135a
|
UTSW |
1 |
24,096,556 (GRCm39) |
missense |
probably damaging |
0.98 |
R3946:Fam135a
|
UTSW |
1 |
24,069,475 (GRCm39) |
missense |
probably damaging |
0.96 |
R4754:Fam135a
|
UTSW |
1 |
24,067,835 (GRCm39) |
nonsense |
probably null |
|
R4794:Fam135a
|
UTSW |
1 |
24,068,241 (GRCm39) |
missense |
probably benign |
0.36 |
R4887:Fam135a
|
UTSW |
1 |
24,063,334 (GRCm39) |
nonsense |
probably null |
|
R4891:Fam135a
|
UTSW |
1 |
24,069,409 (GRCm39) |
missense |
probably benign |
0.00 |
R4929:Fam135a
|
UTSW |
1 |
24,069,081 (GRCm39) |
missense |
probably benign |
0.16 |
R4999:Fam135a
|
UTSW |
1 |
24,059,758 (GRCm39) |
missense |
possibly damaging |
0.83 |
R5092:Fam135a
|
UTSW |
1 |
24,067,888 (GRCm39) |
missense |
probably benign |
0.11 |
R5205:Fam135a
|
UTSW |
1 |
24,068,592 (GRCm39) |
missense |
probably benign |
0.05 |
R5313:Fam135a
|
UTSW |
1 |
24,067,666 (GRCm39) |
missense |
possibly damaging |
0.89 |
R5579:Fam135a
|
UTSW |
1 |
24,068,808 (GRCm39) |
missense |
possibly damaging |
0.93 |
R5689:Fam135a
|
UTSW |
1 |
24,068,134 (GRCm39) |
missense |
probably benign |
0.22 |
R5863:Fam135a
|
UTSW |
1 |
24,053,863 (GRCm39) |
missense |
possibly damaging |
0.94 |
R5869:Fam135a
|
UTSW |
1 |
24,068,511 (GRCm39) |
missense |
possibly damaging |
0.53 |
R6128:Fam135a
|
UTSW |
1 |
24,069,821 (GRCm39) |
critical splice donor site |
probably null |
|
R6505:Fam135a
|
UTSW |
1 |
24,053,953 (GRCm39) |
missense |
probably damaging |
1.00 |
R6668:Fam135a
|
UTSW |
1 |
24,067,929 (GRCm39) |
missense |
probably damaging |
0.99 |
R6793:Fam135a
|
UTSW |
1 |
24,107,006 (GRCm39) |
missense |
possibly damaging |
0.69 |
R6857:Fam135a
|
UTSW |
1 |
24,053,870 (GRCm39) |
missense |
probably damaging |
0.99 |
R6931:Fam135a
|
UTSW |
1 |
24,124,568 (GRCm39) |
start codon destroyed |
probably damaging |
1.00 |
R6977:Fam135a
|
UTSW |
1 |
24,093,179 (GRCm39) |
missense |
probably damaging |
1.00 |
R7187:Fam135a
|
UTSW |
1 |
24,083,295 (GRCm39) |
missense |
probably damaging |
1.00 |
R7206:Fam135a
|
UTSW |
1 |
24,069,354 (GRCm39) |
missense |
probably benign |
0.14 |
R7305:Fam135a
|
UTSW |
1 |
24,069,939 (GRCm39) |
missense |
probably damaging |
1.00 |
R7313:Fam135a
|
UTSW |
1 |
24,096,473 (GRCm39) |
missense |
probably damaging |
0.98 |
R7420:Fam135a
|
UTSW |
1 |
24,051,567 (GRCm39) |
missense |
possibly damaging |
0.68 |
R7646:Fam135a
|
UTSW |
1 |
24,067,704 (GRCm39) |
missense |
probably benign |
0.06 |
R7661:Fam135a
|
UTSW |
1 |
24,111,843 (GRCm39) |
splice site |
probably null |
|
R7681:Fam135a
|
UTSW |
1 |
24,106,996 (GRCm39) |
missense |
probably benign |
0.03 |
R7748:Fam135a
|
UTSW |
1 |
24,068,050 (GRCm39) |
missense |
probably benign |
0.00 |
R7845:Fam135a
|
UTSW |
1 |
24,068,738 (GRCm39) |
missense |
probably benign |
0.27 |
R7849:Fam135a
|
UTSW |
1 |
24,083,331 (GRCm39) |
missense |
probably damaging |
1.00 |
R7914:Fam135a
|
UTSW |
1 |
24,065,760 (GRCm39) |
missense |
probably damaging |
1.00 |
R8236:Fam135a
|
UTSW |
1 |
24,059,729 (GRCm39) |
splice site |
probably null |
|
R8314:Fam135a
|
UTSW |
1 |
24,061,002 (GRCm39) |
missense |
possibly damaging |
0.84 |
R8403:Fam135a
|
UTSW |
1 |
24,067,908 (GRCm39) |
missense |
probably benign |
0.21 |
R8416:Fam135a
|
UTSW |
1 |
24,067,675 (GRCm39) |
missense |
probably benign |
0.11 |
R8420:Fam135a
|
UTSW |
1 |
24,067,569 (GRCm39) |
missense |
probably benign |
0.24 |
R8423:Fam135a
|
UTSW |
1 |
24,060,998 (GRCm39) |
missense |
probably damaging |
0.99 |
R8745:Fam135a
|
UTSW |
1 |
24,067,569 (GRCm39) |
missense |
probably benign |
0.24 |
R8754:Fam135a
|
UTSW |
1 |
24,067,569 (GRCm39) |
missense |
probably benign |
0.24 |
R8994:Fam135a
|
UTSW |
1 |
24,067,621 (GRCm39) |
missense |
probably damaging |
1.00 |
X0022:Fam135a
|
UTSW |
1 |
24,069,295 (GRCm39) |
missense |
probably damaging |
0.99 |
|
Predicted Primers |
PCR Primer
(F):5'- TTCAGGTTATGTGACAAATTGGCTC -3'
(R):5'- CTACACAGTTACTCATTATGATAGGTG -3'
Sequencing Primer
(F):5'- AGAGCACTGCTGTTGTAG -3'
(R):5'- CTCTTGTGTATCAGATTTGAG -3'
|
Posted On |
2014-12-04 |