Incidental Mutation 'IGL02832:Fam135a'
| ID |
361468 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Fam135a
|
| Ensembl Gene |
ENSMUSG00000026153 |
| Gene Name |
family with sequence similarity 135, member A |
| Synonyms |
4921533L14Rik |
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.124)
|
| Stock # |
IGL02832
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
1 |
| Chromosomal Location |
24050174-24139422 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 24067714 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Valine
at position 152
(I152V)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000140947
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000027337]
[ENSMUST00000185807]
[ENSMUST00000186331]
[ENSMUST00000186999]
[ENSMUST00000187369]
[ENSMUST00000187752]
[ENSMUST00000188712]
|
| AlphaFold |
Q6NS59 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000027337
AA Change: I1052V
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000027337
Gene: ENSMUSG00000026153
AA Change: I1052V
| 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
AA Change: I152V
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
| SMART Domains |
Protein: ENSMUSP00000140947
Gene: ENSMUSG00000026153
AA Change: I152V
| 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 |
probably benign
Transcript: ENSMUST00000186999
|
| SMART Domains |
Protein: ENSMUSP00000140198
Gene: ENSMUSG00000026153
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:DUF3657
|
111 |
173 |
1.8e-15 |
PFAM |
|
Pfam:DUF3657
|
338 |
395 |
7.3e-8 |
PFAM |
|
low complexity region
|
672 |
683 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000187369
AA Change: I856V
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000140766
Gene: ENSMUSG00000026153
AA Change: I856V
| 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 |
probably benign
Transcript: ENSMUST00000187752
AA Change: I839V
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000139633
Gene: ENSMUSG00000026153
AA Change: I839V
| 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 |
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 50 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adamts9 |
G |
A |
6: 92,784,156 (GRCm39) |
T985M |
probably damaging |
Het |
| Alpk1 |
A |
G |
3: 127,473,592 (GRCm39) |
S804P |
possibly damaging |
Het |
| Ap3b1 |
A |
G |
13: 94,664,835 (GRCm39) |
I925V |
unknown |
Het |
| Cep135 |
T |
A |
5: 76,788,796 (GRCm39) |
S1130T |
probably damaging |
Het |
| Cers3 |
A |
T |
7: 66,431,573 (GRCm39) |
M183L |
probably benign |
Het |
| Col5a1 |
A |
G |
2: 27,842,352 (GRCm39) |
E409G |
unknown |
Het |
| Cyp4a32 |
G |
T |
4: 115,471,818 (GRCm39) |
V410F |
probably damaging |
Het |
| Ddx1 |
G |
A |
12: 13,277,318 (GRCm39) |
Q528* |
probably null |
Het |
| Dio2 |
G |
A |
12: 90,696,178 (GRCm39) |
|
probably benign |
Het |
| Dnah9 |
G |
T |
11: 65,931,172 (GRCm39) |
A2008E |
probably damaging |
Het |
| Dnajc2 |
A |
G |
5: 21,965,408 (GRCm39) |
V457A |
probably benign |
Het |
| Dytn |
T |
C |
1: 63,682,532 (GRCm39) |
T372A |
probably benign |
Het |
| Fmnl2 |
C |
T |
2: 52,748,261 (GRCm39) |
A36V |
possibly damaging |
Het |
| Galnt7 |
G |
A |
8: 58,005,531 (GRCm39) |
T234I |
probably damaging |
Het |
| Gba1 |
A |
C |
3: 89,110,809 (GRCm39) |
I6L |
probably benign |
Het |
| Gja10 |
A |
G |
4: 32,602,147 (GRCm39) |
V79A |
probably damaging |
Het |
| Gpd2 |
T |
A |
2: 57,228,991 (GRCm39) |
V265E |
probably damaging |
Het |
| Gpld1 |
T |
C |
13: 25,136,861 (GRCm39) |
Y60H |
probably damaging |
Het |
| H2bc27 |
A |
G |
11: 58,839,869 (GRCm39) |
K35R |
probably benign |
Het |
| Heatr9 |
A |
G |
11: 83,409,672 (GRCm39) |
|
probably benign |
Het |
| Krt75 |
T |
A |
15: 101,476,508 (GRCm39) |
D419V |
probably benign |
Het |
| Lrig3 |
A |
T |
10: 125,842,871 (GRCm39) |
I599F |
probably benign |
Het |
| Lrp4 |
A |
G |
2: 91,341,925 (GRCm39) |
D1846G |
probably damaging |
Het |
| Mamdc2 |
C |
T |
19: 23,281,215 (GRCm39) |
A653T |
probably damaging |
Het |
| Myo7a |
A |
T |
7: 97,740,227 (GRCm39) |
|
probably null |
Het |
| Notch2 |
A |
G |
3: 98,044,689 (GRCm39) |
D1537G |
probably benign |
Het |
| Or10k2 |
G |
A |
8: 84,268,100 (GRCm39) |
C109Y |
probably damaging |
Het |
| Or51a25 |
G |
T |
7: 102,372,858 (GRCm39) |
H280N |
probably benign |
Het |
| Or52ae7 |
A |
T |
7: 103,119,905 (GRCm39) |
I220L |
probably benign |
Het |
| Papss1 |
A |
C |
3: 131,288,280 (GRCm39) |
D84A |
probably damaging |
Het |
| Pcdhb16 |
T |
A |
18: 37,611,527 (GRCm39) |
D162E |
probably damaging |
Het |
| Rab11fip1 |
C |
T |
8: 27,642,840 (GRCm39) |
R653Q |
possibly damaging |
Het |
| Rap1gap2 |
A |
T |
11: 74,303,281 (GRCm39) |
|
probably benign |
Het |
| Rasal2 |
T |
C |
1: 156,984,777 (GRCm39) |
D990G |
probably damaging |
Het |
| Rnf32 |
T |
C |
5: 29,410,701 (GRCm39) |
|
probably null |
Het |
| Rp1 |
T |
C |
1: 4,419,936 (GRCm39) |
D392G |
probably benign |
Het |
| Scn9a |
T |
C |
2: 66,398,373 (GRCm39) |
D79G |
probably damaging |
Het |
| Selenon |
A |
T |
4: 134,268,219 (GRCm39) |
V438D |
probably damaging |
Het |
| Slc47a1 |
G |
A |
11: 61,254,239 (GRCm39) |
H158Y |
probably benign |
Het |
| Slc5a12 |
A |
T |
2: 110,471,160 (GRCm39) |
E463D |
probably benign |
Het |
| Taf2 |
C |
T |
15: 54,879,959 (GRCm39) |
V1126M |
probably benign |
Het |
| Tas2r143 |
G |
T |
6: 42,377,259 (GRCm39) |
V30L |
possibly damaging |
Het |
| Tcea3 |
G |
A |
4: 135,995,424 (GRCm39) |
V256M |
probably damaging |
Het |
| Thy1 |
A |
G |
9: 43,958,111 (GRCm39) |
T80A |
probably benign |
Het |
| Tmem9 |
A |
G |
1: 135,947,469 (GRCm39) |
N47S |
probably damaging |
Het |
| Tmprss11g |
T |
C |
5: 86,645,128 (GRCm39) |
Q101R |
probably benign |
Het |
| Trim66 |
C |
T |
7: 109,059,704 (GRCm39) |
C792Y |
probably damaging |
Het |
| Tstd2 |
A |
T |
4: 46,124,949 (GRCm39) |
M226K |
probably damaging |
Het |
| Utrn |
G |
T |
10: 12,613,937 (GRCm39) |
T378K |
possibly damaging |
Het |
| Vmn2r23 |
A |
G |
6: 123,681,355 (GRCm39) |
I88V |
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 |
|
|
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 |
|
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 |
|
| Posted On |
2015-12-18 |
Incidental Mutation