Incidental Mutation 'R8754:Fam135a'
| ID |
664009 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Fam135a
|
| Ensembl Gene |
ENSMUSG00000026153 |
| Gene Name |
family with sequence similarity 135, member A |
| Synonyms |
4921533L14Rik |
| MMRRC Submission |
068620-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.124)
|
| Stock # |
R8754 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
1 |
| Chromosomal Location |
24050174-24139422 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to A
at 24067569 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Methionine
at position 1100
(T1100M)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000027337
(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: T1100M
PolyPhen 2
Score 0.237 (Sensitivity: 0.91; Specificity: 0.88)
|
| SMART Domains |
Protein: ENSMUSP00000027337
Gene: ENSMUSG00000026153
AA Change: T1100M
| 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 |
possibly damaging
Transcript: ENSMUST00000186331
AA Change: T200M
PolyPhen 2
Score 0.619 (Sensitivity: 0.87; Specificity: 0.91)
|
| SMART Domains |
Protein: ENSMUSP00000140947
Gene: ENSMUSG00000026153
AA Change: T200M
| 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: T904M
PolyPhen 2
Score 0.221 (Sensitivity: 0.91; Specificity: 0.88)
|
| SMART Domains |
Protein: ENSMUSP00000140766
Gene: ENSMUSG00000026153
AA Change: T904M
| 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: T887M
PolyPhen 2
Score 0.499 (Sensitivity: 0.88; Specificity: 0.90)
|
| SMART Domains |
Protein: ENSMUSP00000139633
Gene: ENSMUSG00000026153
AA Change: T887M
| 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: 100.0%
- 3x: 99.9%
- 10x: 99.3%
- 20x: 97.5%
|
| Validation Efficiency |
100% (67/67) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 70 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1110002E22Rik |
T |
C |
3: 137,771,798 (GRCm39) |
V329A |
probably benign |
Het |
| A830018L16Rik |
G |
T |
1: 11,615,472 (GRCm39) |
K148N |
probably benign |
Het |
| Actn3 |
A |
G |
19: 4,913,488 (GRCm39) |
F648L |
probably damaging |
Het |
| Amotl2 |
A |
G |
9: 102,597,358 (GRCm39) |
D39G |
possibly damaging |
Het |
| Anks1 |
C |
A |
17: 28,214,984 (GRCm39) |
T477K |
possibly damaging |
Het |
| Brix1 |
A |
T |
15: 10,476,664 (GRCm39) |
S271T |
probably benign |
Het |
| Ccdc88b |
T |
C |
19: 6,833,213 (GRCm39) |
E278G |
probably damaging |
Het |
| Cdc40 |
C |
T |
10: 40,717,480 (GRCm39) |
D404N |
probably damaging |
Het |
| Chrna6 |
T |
C |
8: 27,897,229 (GRCm39) |
H216R |
probably damaging |
Het |
| Col6a3 |
C |
G |
1: 90,695,328 (GRCm39) |
|
probably benign |
Het |
| Copa |
C |
T |
1: 171,935,926 (GRCm39) |
R423W |
probably damaging |
Het |
| Cttnbp2 |
A |
C |
6: 18,434,037 (GRCm39) |
I607R |
possibly damaging |
Het |
| Depdc5 |
A |
T |
5: 33,136,881 (GRCm39) |
T1384S |
probably benign |
Het |
| Dlat |
G |
T |
9: 50,560,967 (GRCm39) |
A360E |
probably damaging |
Het |
| Dusp26 |
C |
T |
8: 31,581,805 (GRCm39) |
|
probably benign |
Het |
| Eif1ad13 |
T |
A |
12: 87,762,569 (GRCm39) |
N96K |
possibly damaging |
Het |
| Fuca1 |
T |
C |
4: 135,652,889 (GRCm39) |
L171P |
probably damaging |
Het |
| Gpr158 |
G |
A |
2: 21,581,693 (GRCm39) |
V391I |
probably benign |
Het |
| Gtf2h5 |
C |
CA |
17: 6,134,833 (GRCm39) |
|
probably null |
Het |
| Heatr1 |
T |
A |
13: 12,428,175 (GRCm39) |
Y771N |
probably damaging |
Het |
| Il17ra |
A |
G |
6: 120,458,417 (GRCm39) |
T523A |
probably benign |
Het |
| Kcnv1 |
G |
A |
15: 44,977,865 (GRCm39) |
Q58* |
probably null |
Het |
| Kdm5d |
T |
C |
Y: 941,594 (GRCm39) |
V1265A |
probably damaging |
Het |
| Kifc3 |
A |
T |
8: 95,829,024 (GRCm39) |
L726Q |
probably damaging |
Het |
| Klk1b21 |
T |
A |
7: 43,755,912 (GRCm39) |
I247N |
probably benign |
Het |
| Kntc1 |
T |
A |
5: 123,897,115 (GRCm39) |
N159K |
probably benign |
Het |
| Krtap4-7 |
G |
T |
11: 99,534,667 (GRCm39) |
C65* |
probably null |
Het |
| Lama2 |
C |
T |
10: 26,877,147 (GRCm39) |
V2680M |
possibly damaging |
Het |
| Lipe |
T |
A |
7: 25,088,007 (GRCm39) |
M61L |
probably benign |
Het |
| Med17 |
A |
G |
9: 15,188,896 (GRCm39) |
M123T |
possibly damaging |
Het |
| Mrpl37 |
T |
C |
4: 106,921,611 (GRCm39) |
N206S |
probably benign |
Het |
| Muc4 |
A |
T |
16: 32,602,356 (GRCm39) |
N1390Y |
|
Het |
| Muc5ac |
C |
T |
7: 141,354,008 (GRCm39) |
A869V |
possibly damaging |
Het |
| Nckap5l |
A |
G |
15: 99,327,290 (GRCm39) |
V133A |
probably benign |
Het |
| Nin |
A |
T |
12: 70,077,787 (GRCm39) |
|
probably benign |
Het |
| Nr1h2 |
C |
T |
7: 44,200,768 (GRCm39) |
A287T |
probably damaging |
Het |
| Or8c16 |
A |
T |
9: 38,130,865 (GRCm39) |
I246L |
possibly damaging |
Het |
| Patl1 |
A |
G |
19: 11,899,898 (GRCm39) |
E230G |
probably damaging |
Het |
| Pbxip1 |
T |
C |
3: 89,355,235 (GRCm39) |
S585P |
probably damaging |
Het |
| Pde3b |
T |
A |
7: 114,015,278 (GRCm39) |
W165R |
possibly damaging |
Het |
| Pdia4 |
A |
C |
6: 47,773,464 (GRCm39) |
D628E |
probably benign |
Het |
| Pigo |
T |
A |
4: 43,024,724 (GRCm39) |
H125L |
probably benign |
Het |
| Platr25 |
A |
T |
13: 62,847,924 (GRCm39) |
*313K |
probably null |
Het |
| Plxdc1 |
A |
T |
11: 97,846,337 (GRCm39) |
M169K |
possibly damaging |
Het |
| Pxk |
T |
C |
14: 8,151,496 (GRCm38) |
I437T |
probably damaging |
Het |
| Rlf |
T |
C |
4: 121,004,010 (GRCm39) |
T1767A |
possibly damaging |
Het |
| Rnf123 |
T |
A |
9: 107,948,363 (GRCm39) |
D110V |
probably damaging |
Het |
| Rnf185 |
A |
T |
11: 3,368,052 (GRCm39) |
F209I |
probably benign |
Het |
| Rpl4 |
A |
T |
9: 64,082,242 (GRCm39) |
N47I |
probably damaging |
Het |
| Rsl1d1 |
A |
T |
16: 11,017,512 (GRCm39) |
F151L |
probably damaging |
Het |
| Sema3d |
T |
C |
5: 12,603,191 (GRCm39) |
|
probably null |
Het |
| Serhl |
A |
G |
15: 82,986,126 (GRCm39) |
N80D |
probably benign |
Het |
| Sh3tc1 |
C |
A |
5: 35,863,802 (GRCm39) |
R795L |
probably benign |
Het |
| Slc2a12 |
A |
T |
10: 22,521,116 (GRCm39) |
T7S |
probably benign |
Het |
| Snrnp200 |
A |
G |
2: 127,068,005 (GRCm39) |
Y834C |
probably damaging |
Het |
| Ss18 |
G |
C |
18: 14,774,016 (GRCm39) |
Q258E |
probably damaging |
Het |
| Telo2 |
G |
A |
17: 25,321,041 (GRCm39) |
L725F |
probably damaging |
Het |
| Tnxb |
A |
G |
17: 34,934,882 (GRCm39) |
E2497G |
probably damaging |
Het |
| Tox2 |
A |
G |
2: 163,163,360 (GRCm39) |
D111G |
|
Het |
| Trim16 |
G |
A |
11: 62,731,763 (GRCm39) |
E545K |
probably benign |
Het |
| Trpm7 |
A |
G |
2: 126,664,623 (GRCm39) |
W919R |
probably damaging |
Het |
| Ttbk1 |
G |
T |
17: 46,756,127 (GRCm39) |
S1301* |
probably null |
Het |
| Txk |
T |
C |
5: 72,889,122 (GRCm39) |
N144S |
probably damaging |
Het |
| Ubqln4 |
T |
A |
3: 88,473,090 (GRCm39) |
V515E |
probably benign |
Het |
| Ush2a |
C |
T |
1: 188,581,162 (GRCm39) |
R3681* |
probably null |
Het |
| Ythdf3 |
A |
T |
3: 16,258,138 (GRCm39) |
N106I |
probably damaging |
Het |
| Zfp367 |
A |
T |
13: 64,292,069 (GRCm39) |
C187* |
probably null |
Het |
| Zfp735 |
A |
G |
11: 73,603,000 (GRCm39) |
D648G |
possibly damaging |
Het |
| Zic1 |
T |
C |
9: 91,244,701 (GRCm39) |
|
probably benign |
Het |
| Zik1 |
A |
G |
7: 10,223,826 (GRCm39) |
S424P |
probably damaging |
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 |
|
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 |
|
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 |
|
| Posted On |
2021-03-08 |
Incidental Mutation