Incidental Mutation 'R8745:Fam135a'
ID |
663451 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Fam135a
|
Ensembl Gene |
ENSMUSG00000026153 |
Gene Name |
family with sequence similarity 135, member A |
Synonyms |
4921533L14Rik |
MMRRC Submission |
068589-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.124)
|
Stock # |
R8745 (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: 99.2%
- 20x: 96.5%
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 77 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Aldh1a1 |
A |
G |
19: 20,611,807 (GRCm39) |
N377S |
probably benign |
Het |
Aldh3b3 |
A |
T |
19: 4,014,890 (GRCm39) |
Y129F |
possibly damaging |
Het |
Ampd2 |
C |
A |
3: 107,987,432 (GRCm39) |
V134L |
probably benign |
Het |
Ankrd61 |
G |
A |
5: 143,828,237 (GRCm39) |
S246L |
possibly damaging |
Het |
Ccdc187 |
T |
A |
2: 26,170,526 (GRCm39) |
I651F |
probably damaging |
Het |
Cdc40 |
C |
T |
10: 40,717,480 (GRCm39) |
D404N |
probably damaging |
Het |
Ceacam13 |
T |
A |
7: 17,743,934 (GRCm39) |
S14T |
probably damaging |
Het |
Cfap58 |
A |
T |
19: 47,929,553 (GRCm39) |
K5* |
probably null |
Het |
Col27a1 |
T |
C |
4: 63,144,153 (GRCm39) |
S614P |
probably benign |
Het |
Crlf3 |
T |
A |
11: 79,955,100 (GRCm39) |
E85D |
probably damaging |
Het |
Dennd2b |
T |
A |
7: 109,156,279 (GRCm39) |
H157L |
probably benign |
Het |
Dlat |
G |
T |
9: 50,560,967 (GRCm39) |
A360E |
probably damaging |
Het |
Dnah7b |
A |
G |
1: 46,221,624 (GRCm39) |
I1243V |
possibly damaging |
Het |
Dnajc22 |
A |
G |
15: 98,999,345 (GRCm39) |
T177A |
probably benign |
Het |
Dytn |
A |
T |
1: 63,686,606 (GRCm39) |
C355S |
probably benign |
Het |
Efcab3 |
C |
T |
11: 104,749,304 (GRCm39) |
T2340M |
possibly damaging |
Het |
Ehbp1 |
T |
C |
11: 22,119,064 (GRCm39) |
N202S |
possibly damaging |
Het |
Exoc3l2 |
T |
C |
7: 19,215,212 (GRCm39) |
I491T |
unknown |
Het |
Fam53a |
A |
T |
5: 33,767,781 (GRCm39) |
I43N |
probably damaging |
Het |
Fis1 |
G |
T |
5: 136,982,365 (GRCm39) |
|
probably benign |
Het |
Fn1 |
T |
C |
1: 71,676,528 (GRCm39) |
T568A |
probably benign |
Het |
Gba1 |
A |
T |
3: 89,115,180 (GRCm39) |
N404I |
probably damaging |
Het |
Gsap |
A |
G |
5: 21,474,949 (GRCm39) |
Y536C |
probably benign |
Het |
Hecw2 |
T |
A |
1: 53,972,330 (GRCm39) |
E230V |
probably damaging |
Het |
Heg1 |
A |
G |
16: 33,555,986 (GRCm39) |
Q1046R |
probably benign |
Het |
Kctd14 |
G |
A |
7: 97,107,445 (GRCm39) |
W233* |
probably null |
Het |
Krt88 |
T |
C |
15: 101,351,460 (GRCm39) |
S156P |
possibly damaging |
Het |
L3mbtl1 |
C |
A |
2: 162,812,137 (GRCm39) |
H727Q |
probably benign |
Het |
Man1c1 |
T |
C |
4: 134,303,295 (GRCm39) |
K400E |
probably damaging |
Het |
Map2 |
A |
T |
1: 66,452,556 (GRCm39) |
Q482L |
probably benign |
Het |
Map3k1 |
A |
G |
13: 111,893,306 (GRCm39) |
V733A |
probably damaging |
Het |
Map4k1 |
G |
A |
7: 28,686,542 (GRCm39) |
D155N |
probably damaging |
Het |
Map4k3 |
G |
A |
17: 80,944,164 (GRCm39) |
R328C |
possibly damaging |
Het |
Marchf7 |
C |
T |
2: 60,067,153 (GRCm39) |
Q558* |
probably null |
Het |
Mepe |
T |
C |
5: 104,485,525 (GRCm39) |
S222P |
possibly damaging |
Het |
Mfap3l |
A |
T |
8: 61,124,958 (GRCm39) |
N400I |
possibly damaging |
Het |
Myom3 |
T |
C |
4: 135,522,509 (GRCm39) |
|
probably null |
Het |
Nav3 |
T |
C |
10: 109,659,311 (GRCm39) |
T769A |
probably benign |
Het |
Ndufb7 |
T |
A |
8: 84,297,518 (GRCm39) |
Y58N |
probably damaging |
Het |
Nup160 |
T |
C |
2: 90,530,463 (GRCm39) |
F445L |
probably benign |
Het |
Or1e20-ps1 |
C |
A |
11: 73,324,848 (GRCm39) |
*68L |
probably null |
Het |
Or4c126 |
T |
A |
2: 89,824,076 (GRCm39) |
M113K |
probably damaging |
Het |
Or4p23 |
T |
C |
2: 88,576,408 (GRCm39) |
I275V |
possibly damaging |
Het |
Ovch2 |
G |
A |
7: 107,389,584 (GRCm39) |
S321F |
possibly damaging |
Het |
Pamr1 |
T |
C |
2: 102,441,924 (GRCm39) |
L171P |
probably damaging |
Het |
Pcdhga5 |
T |
C |
18: 37,828,974 (GRCm39) |
V474A |
possibly damaging |
Het |
Pcgf6 |
A |
G |
19: 47,039,159 (GRCm39) |
S34P |
probably benign |
Het |
Pitrm1 |
C |
T |
13: 6,603,238 (GRCm39) |
P96L |
probably damaging |
Het |
Polr1a |
T |
C |
6: 71,931,755 (GRCm39) |
F945L |
probably damaging |
Het |
Ranbp1 |
A |
G |
16: 18,065,244 (GRCm39) |
S21P |
possibly damaging |
Het |
Rasgrp2 |
G |
T |
19: 6,463,949 (GRCm39) |
R549L |
probably damaging |
Het |
Rassf10 |
T |
A |
7: 112,554,083 (GRCm39) |
L228Q |
probably damaging |
Het |
Rho |
A |
T |
6: 115,912,483 (GRCm39) |
I275F |
probably damaging |
Het |
Rrp9 |
T |
C |
9: 106,361,657 (GRCm39) |
V400A |
possibly damaging |
Het |
Satb2 |
A |
G |
1: 57,008,796 (GRCm39) |
L62P |
unknown |
Het |
Scmh1 |
T |
A |
4: 120,362,559 (GRCm39) |
L265* |
probably null |
Het |
Scn7a |
A |
G |
2: 66,510,526 (GRCm39) |
M1292T |
probably benign |
Het |
Serpinb10 |
A |
T |
1: 107,474,542 (GRCm39) |
T235S |
probably benign |
Het |
Serpinb6c |
A |
G |
13: 34,064,702 (GRCm39) |
V214A |
probably benign |
Het |
Sf3b3 |
A |
G |
8: 111,550,816 (GRCm39) |
I616T |
possibly damaging |
Het |
Shb |
G |
C |
4: 45,458,319 (GRCm39) |
R282G |
probably benign |
Het |
Snx5 |
A |
T |
2: 144,103,932 (GRCm39) |
S22T |
probably benign |
Het |
Spata6 |
T |
C |
4: 111,636,476 (GRCm39) |
F256L |
probably benign |
Het |
Stab2 |
T |
C |
10: 86,805,213 (GRCm39) |
H255R |
probably benign |
Het |
Sva |
T |
A |
6: 42,015,357 (GRCm39) |
M1K |
probably null |
Het |
Tdpoz4 |
A |
T |
3: 93,704,221 (GRCm39) |
T173S |
probably benign |
Het |
Tex9 |
T |
C |
9: 72,389,778 (GRCm39) |
I111V |
probably benign |
Het |
Tigd4 |
A |
G |
3: 84,501,874 (GRCm39) |
I264V |
probably benign |
Het |
Tmem182 |
C |
T |
1: 40,877,536 (GRCm39) |
A137V |
probably damaging |
Het |
Tnfrsf1a |
A |
G |
6: 125,338,745 (GRCm39) |
I385V |
probably damaging |
Het |
Tnrc18 |
A |
T |
5: 142,773,202 (GRCm39) |
F542L |
|
Het |
Tpbpa |
G |
A |
13: 61,087,778 (GRCm39) |
T86I |
possibly damaging |
Het |
Trappc14 |
A |
G |
5: 138,261,327 (GRCm39) |
|
probably null |
Het |
Ubr5 |
G |
A |
15: 38,025,039 (GRCm39) |
P573L |
|
Het |
Usp54 |
A |
G |
14: 20,612,176 (GRCm39) |
I880T |
probably benign |
Het |
Vmn1r9 |
A |
G |
6: 57,048,767 (GRCm39) |
I281V |
probably benign |
Het |
Zfp456 |
C |
A |
13: 67,515,373 (GRCm39) |
C111F |
possibly 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 |
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 |
|
Posted On |
2021-03-08 |