Incidental Mutation 'R4999:Fam135a'
ID |
478078 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Fam135a
|
Ensembl Gene |
ENSMUSG00000026153 |
Gene Name |
family with sequence similarity 135, member A |
Synonyms |
4921533L14Rik |
MMRRC Submission |
042593-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.118)
|
Stock # |
R4999 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
1 |
Chromosomal Location |
24050174-24139422 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
G to A
at 24059758 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Alanine to Valine
at position 1187
(A1187V)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000139633
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000027337]
[ENSMUST00000185807]
[ENSMUST00000186331]
[ENSMUST00000187369]
[ENSMUST00000187752]
[ENSMUST00000188712]
|
AlphaFold |
Q6NS59 |
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000027337
AA Change: A1400V
PolyPhen 2
Score 0.655 (Sensitivity: 0.87; Specificity: 0.91)
|
SMART Domains |
Protein: ENSMUSP00000027337 Gene: ENSMUSG00000026153 AA Change: A1400V
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: A1204V
PolyPhen 2
Score 0.675 (Sensitivity: 0.86; Specificity: 0.92)
|
SMART Domains |
Protein: ENSMUSP00000140766 Gene: ENSMUSG00000026153 AA Change: A1204V
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 |
probably benign
Transcript: ENSMUST00000187619
|
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000187752
AA Change: A1187V
PolyPhen 2
Score 0.830 (Sensitivity: 0.84; Specificity: 0.93)
|
SMART Domains |
Protein: ENSMUSP00000139633 Gene: ENSMUSG00000026153 AA Change: A1187V
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: 99.1%
- 3x: 98.3%
- 10x: 96.4%
- 20x: 92.7%
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 83 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
4930444P10Rik |
A |
G |
1: 16,139,022 (GRCm39) |
|
probably null |
Het |
Abca4 |
T |
A |
3: 121,899,019 (GRCm39) |
V667D |
probably damaging |
Het |
Aco1 |
A |
G |
4: 40,176,507 (GRCm39) |
I224V |
probably damaging |
Het |
Arel1 |
C |
T |
12: 84,978,541 (GRCm39) |
V364M |
probably damaging |
Het |
Arhgap42 |
A |
G |
9: 9,009,435 (GRCm39) |
V484A |
probably damaging |
Het |
Asap2 |
T |
C |
12: 21,302,766 (GRCm39) |
F681L |
probably benign |
Het |
Atrn |
C |
A |
2: 130,817,874 (GRCm39) |
D809E |
probably damaging |
Het |
Ccdc70 |
G |
A |
8: 22,463,266 (GRCm39) |
V19M |
possibly damaging |
Het |
Ccp110 |
G |
T |
7: 118,329,235 (GRCm39) |
E73* |
probably null |
Het |
Cfap57 |
A |
C |
4: 118,453,045 (GRCm39) |
S553A |
probably benign |
Het |
Cftr |
A |
G |
6: 18,221,613 (GRCm39) |
K212E |
probably benign |
Het |
Chkb |
A |
T |
15: 89,312,368 (GRCm39) |
Y216N |
probably damaging |
Het |
Cntnap2 |
G |
T |
6: 45,897,768 (GRCm39) |
D149Y |
probably damaging |
Het |
Cpd |
A |
G |
11: 76,737,048 (GRCm39) |
|
probably null |
Het |
Creb3l1 |
C |
T |
2: 91,813,571 (GRCm39) |
D489N |
probably benign |
Het |
Crhbp |
A |
G |
13: 95,578,753 (GRCm39) |
F123L |
probably damaging |
Het |
Cryab |
T |
C |
9: 50,665,909 (GRCm39) |
V100A |
possibly damaging |
Het |
Csmd2 |
T |
C |
4: 128,415,723 (GRCm39) |
I2684T |
probably benign |
Het |
Ctbp2 |
G |
T |
7: 132,616,378 (GRCm39) |
P186T |
possibly damaging |
Het |
Ctnna2 |
T |
C |
6: 76,892,745 (GRCm39) |
N814S |
possibly damaging |
Het |
Dntt |
T |
C |
19: 41,028,295 (GRCm39) |
V197A |
probably damaging |
Het |
Filip1l |
A |
T |
16: 57,390,778 (GRCm39) |
Q455H |
probably benign |
Het |
Grm2 |
T |
C |
9: 106,531,189 (GRCm39) |
E100G |
probably damaging |
Het |
Gtf2ird2 |
G |
A |
5: 134,246,306 (GRCm39) |
V855M |
probably damaging |
Het |
Heatr9 |
A |
T |
11: 83,409,618 (GRCm39) |
I118N |
possibly damaging |
Het |
Htra3 |
T |
C |
5: 35,828,469 (GRCm39) |
H137R |
probably benign |
Het |
Iars1 |
A |
G |
13: 49,863,137 (GRCm39) |
S530G |
probably damaging |
Het |
Klhdc4 |
T |
A |
8: 122,523,342 (GRCm39) |
M510L |
probably benign |
Het |
Lipc |
T |
C |
9: 70,724,013 (GRCm39) |
T204A |
probably benign |
Het |
Lrp1 |
A |
G |
10: 127,389,648 (GRCm39) |
V3129A |
probably damaging |
Het |
Macf1 |
G |
A |
4: 123,388,702 (GRCm39) |
T1120I |
probably benign |
Het |
Maco1 |
A |
G |
4: 134,555,444 (GRCm39) |
I343T |
probably benign |
Het |
Map4 |
T |
C |
9: 109,867,445 (GRCm39) |
|
probably benign |
Het |
Mbtps1 |
A |
T |
8: 120,260,087 (GRCm39) |
V420D |
probably damaging |
Het |
Mta2 |
G |
T |
19: 8,927,747 (GRCm39) |
D523Y |
probably benign |
Het |
Mtcl2 |
C |
T |
2: 156,864,776 (GRCm39) |
G1144D |
probably benign |
Het |
Muc4 |
A |
G |
16: 32,576,670 (GRCm39) |
|
probably benign |
Het |
Mug1 |
C |
T |
6: 121,855,902 (GRCm39) |
Q965* |
probably null |
Het |
Myo1e |
T |
A |
9: 70,260,594 (GRCm39) |
I584N |
probably damaging |
Het |
Nolc1 |
T |
C |
19: 46,067,359 (GRCm39) |
V80A |
probably damaging |
Het |
Nop56 |
G |
T |
2: 130,117,645 (GRCm39) |
V91L |
probably benign |
Het |
Or5b99 |
A |
T |
19: 12,976,583 (GRCm39) |
M78L |
probably benign |
Het |
Or5h23 |
A |
T |
16: 58,906,765 (GRCm39) |
L27Q |
probably damaging |
Het |
Or6f2 |
T |
C |
7: 139,756,933 (GRCm39) |
V300A |
probably damaging |
Het |
Osbpl3 |
T |
C |
6: 50,313,277 (GRCm39) |
E107G |
probably damaging |
Het |
Pde3a |
T |
A |
6: 141,195,751 (GRCm39) |
C146S |
probably benign |
Het |
Pfkm |
A |
G |
15: 98,026,123 (GRCm39) |
M573V |
probably damaging |
Het |
Pkd1l2 |
C |
T |
8: 117,774,113 (GRCm39) |
|
probably null |
Het |
Plekhg3 |
T |
C |
12: 76,612,021 (GRCm39) |
I374T |
possibly damaging |
Het |
Ppig |
T |
A |
2: 69,571,830 (GRCm39) |
V183D |
unknown |
Het |
Prom1 |
T |
G |
5: 44,194,876 (GRCm39) |
I290L |
probably benign |
Het |
Rufy3 |
T |
A |
5: 88,785,085 (GRCm39) |
M387K |
probably damaging |
Het |
Selenoo |
G |
A |
15: 88,978,387 (GRCm39) |
R270H |
probably damaging |
Het |
Sema3d |
T |
A |
5: 12,558,054 (GRCm39) |
|
probably null |
Het |
Sema6c |
C |
T |
3: 95,075,674 (GRCm39) |
T175I |
probably damaging |
Het |
Serpina3k |
T |
C |
12: 104,307,305 (GRCm39) |
I179T |
probably damaging |
Het |
Sf3b3 |
T |
C |
8: 111,567,835 (GRCm39) |
T207A |
probably benign |
Het |
Slc22a26 |
C |
A |
19: 7,779,546 (GRCm39) |
R90L |
probably damaging |
Het |
Slitrk5 |
T |
C |
14: 111,917,648 (GRCm39) |
V424A |
probably damaging |
Het |
Smarca2 |
G |
T |
19: 26,698,255 (GRCm39) |
E89* |
probably null |
Het |
Stab2 |
T |
A |
10: 86,773,773 (GRCm39) |
S853C |
probably damaging |
Het |
Stk17b |
A |
T |
1: 53,800,306 (GRCm39) |
|
probably null |
Het |
Taar5 |
T |
A |
10: 23,847,445 (GRCm39) |
I281N |
possibly damaging |
Het |
Tars3 |
A |
T |
7: 65,308,683 (GRCm39) |
E284D |
probably damaging |
Het |
Tbx15 |
C |
A |
3: 99,223,649 (GRCm39) |
T279K |
probably damaging |
Het |
Tfr2 |
G |
A |
5: 137,585,187 (GRCm39) |
V740I |
probably benign |
Het |
Tlr12 |
T |
C |
4: 128,511,473 (GRCm39) |
E259G |
probably benign |
Het |
Tmem145 |
A |
G |
7: 25,008,459 (GRCm39) |
T302A |
probably benign |
Het |
Trappc14 |
T |
A |
5: 138,259,884 (GRCm39) |
T391S |
probably damaging |
Het |
Trpa1 |
G |
T |
1: 14,946,085 (GRCm39) |
H1015Q |
probably benign |
Het |
Tspan8 |
A |
G |
10: 115,653,534 (GRCm39) |
Y10C |
possibly damaging |
Het |
Ttll7 |
A |
G |
3: 146,600,224 (GRCm39) |
N44S |
probably damaging |
Het |
Uba7 |
T |
C |
9: 107,857,038 (GRCm39) |
|
probably null |
Het |
Ube2j2 |
G |
A |
4: 156,030,841 (GRCm39) |
M1I |
probably null |
Het |
Ubr5 |
C |
A |
15: 38,009,912 (GRCm39) |
A1022S |
probably benign |
Het |
Usf1 |
T |
G |
1: 171,243,331 (GRCm39) |
I36S |
probably damaging |
Het |
Vmn1r181 |
A |
T |
7: 23,683,790 (GRCm39) |
D85V |
probably damaging |
Het |
Vmn1r3 |
A |
T |
4: 3,185,009 (GRCm39) |
Y99* |
probably null |
Het |
Vmn1r72 |
T |
C |
7: 11,404,300 (GRCm39) |
I49M |
possibly damaging |
Het |
Vmn2r99 |
A |
G |
17: 19,582,397 (GRCm39) |
M1V |
probably null |
Het |
Vsig10 |
T |
A |
5: 117,482,040 (GRCm39) |
V410E |
probably damaging |
Het |
Zc3h7b |
A |
G |
15: 81,663,334 (GRCm39) |
Y442C |
probably damaging |
Het |
Zfyve26 |
G |
T |
12: 79,327,159 (GRCm39) |
Y730* |
probably null |
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 |
R2570:Fam135a
|
UTSW |
1 |
24,061,045 (GRCm39) |
missense |
probably damaging |
1.00 |
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 |
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'- TGTGGCATGCATGTGTCCAC -3'
(R):5'- GTCACTGTGCCTCCATGAAC -3'
Sequencing Primer
(F):5'- ATGCATGTGTCCACCCTGC -3'
(R):5'- GTTTATCAGAGAGTAAAGTAGTTGGC -3'
|
Posted On |
2017-05-23 |