Incidental Mutation 'R8955:Fam135b'
ID |
681967 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Fam135b
|
Ensembl Gene |
ENSMUSG00000036800 |
Gene Name |
family with sequence similarity 135, member B |
Synonyms |
1700010C24Rik, A830008O07Rik |
MMRRC Submission |
068791-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R8955 (G1)
|
Quality Score |
225.009 |
Status
|
Not validated
|
Chromosome |
15 |
Chromosomal Location |
71310800-71600282 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
C to T
at 71334063 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Valine to Isoleucine
at position 1044
(V1044I)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000022953
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000022953]
|
AlphaFold |
Q9DAI6 |
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000022953
AA Change: V1044I
PolyPhen 2
Score 0.852 (Sensitivity: 0.83; Specificity: 0.93)
|
SMART Domains |
Protein: ENSMUSP00000022953 Gene: ENSMUSG00000036800 AA Change: V1044I
Domain | Start | End | E-Value | Type |
Pfam:DUF3657
|
111 |
172 |
1.9e-19 |
PFAM |
low complexity region
|
744 |
757 |
N/A |
INTRINSIC |
low complexity region
|
1124 |
1130 |
N/A |
INTRINSIC |
Pfam:DUF676
|
1132 |
1328 |
2.7e-60 |
PFAM |
Pfam:PGAP1
|
1135 |
1309 |
3.2e-9 |
PFAM |
|
Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.6%
- 20x: 98.7%
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 87 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Adcy8 |
C |
T |
15: 64,576,554 (GRCm39) |
V1003I |
possibly damaging |
Het |
Adgra3 |
T |
A |
5: 50,118,731 (GRCm39) |
Y939F |
probably benign |
Het |
Adra2b |
T |
C |
2: 127,205,504 (GRCm39) |
V2A |
probably benign |
Het |
Aga |
T |
A |
8: 53,974,164 (GRCm39) |
Y296N |
possibly damaging |
Het |
Apc |
A |
G |
18: 34,401,370 (GRCm39) |
Q52R |
probably damaging |
Het |
Arfgef1 |
A |
T |
1: 10,270,062 (GRCm39) |
S362R |
probably benign |
Het |
Arhgef7 |
C |
T |
8: 11,808,451 (GRCm39) |
|
probably benign |
Het |
Bmp5 |
A |
T |
9: 75,805,835 (GRCm39) |
M446L |
probably damaging |
Het |
Carmil3 |
C |
T |
14: 55,733,534 (GRCm39) |
T350I |
probably damaging |
Het |
Cd44 |
T |
A |
2: 102,683,363 (GRCm39) |
T224S |
probably damaging |
Het |
Cep112 |
A |
T |
11: 108,643,260 (GRCm39) |
I7F |
possibly damaging |
Het |
Chrna2 |
G |
A |
14: 66,379,681 (GRCm39) |
A7T |
probably benign |
Het |
Cldn16 |
G |
A |
16: 26,301,270 (GRCm39) |
V193I |
probably benign |
Het |
Clec4a3 |
G |
A |
6: 122,943,479 (GRCm39) |
E100K |
possibly damaging |
Het |
Cntln |
C |
T |
4: 84,986,110 (GRCm39) |
T1026I |
possibly damaging |
Het |
Cyp4v3 |
T |
A |
8: 45,761,564 (GRCm39) |
I420F |
probably benign |
Het |
Dcbld2 |
G |
A |
16: 58,271,125 (GRCm39) |
A301T |
|
Het |
Dnah1 |
A |
T |
14: 31,007,950 (GRCm39) |
D2152E |
probably benign |
Het |
Dpy19l4 |
A |
G |
4: 11,290,195 (GRCm39) |
V179A |
probably benign |
Het |
Dusp4 |
T |
A |
8: 35,284,462 (GRCm39) |
I259N |
probably damaging |
Het |
Enpp1 |
T |
A |
10: 24,544,926 (GRCm39) |
I318F |
probably benign |
Het |
Entpd6 |
T |
C |
2: 150,595,005 (GRCm39) |
V15A |
possibly damaging |
Het |
Epb41l1 |
C |
G |
2: 156,363,923 (GRCm39) |
Q811E |
probably benign |
Het |
Epb41l5 |
T |
C |
1: 119,570,292 (GRCm39) |
H32R |
probably damaging |
Het |
Fat4 |
A |
T |
3: 39,037,778 (GRCm39) |
H3810L |
probably benign |
Het |
Fbxw28 |
T |
A |
9: 109,167,857 (GRCm39) |
|
probably null |
Het |
Flnb |
T |
G |
14: 7,892,874 (GRCm38) |
V648G |
probably damaging |
Het |
Flnb |
T |
A |
14: 7,904,688 (GRCm38) |
Y1030* |
probably null |
Het |
Fndc3a |
T |
C |
14: 72,794,410 (GRCm39) |
T787A |
probably benign |
Het |
Gli2 |
T |
A |
1: 118,783,187 (GRCm39) |
H106L |
probably damaging |
Het |
Gm10283 |
T |
A |
8: 60,954,390 (GRCm39) |
|
probably null |
Het |
Gm3336 |
C |
T |
8: 71,174,545 (GRCm39) |
R67* |
probably null |
Het |
Gsr |
T |
G |
8: 34,183,936 (GRCm39) |
I399M |
possibly damaging |
Het |
Gtf2ird2 |
T |
A |
5: 134,245,596 (GRCm39) |
M618K |
probably damaging |
Het |
Gtf3c3 |
T |
A |
1: 54,462,722 (GRCm39) |
D347V |
probably benign |
Het |
Hspa12a |
T |
C |
19: 58,788,058 (GRCm39) |
Y588C |
probably damaging |
Het |
Il20ra |
A |
G |
10: 19,635,160 (GRCm39) |
E467G |
possibly damaging |
Het |
Inf2 |
A |
G |
12: 112,576,998 (GRCm39) |
I991V |
unknown |
Het |
Irag2 |
A |
T |
6: 145,117,390 (GRCm39) |
M376L |
probably benign |
Het |
Irx6 |
T |
C |
8: 93,405,040 (GRCm39) |
C303R |
probably damaging |
Het |
Kcnmb4 |
T |
A |
10: 116,309,381 (GRCm39) |
K16* |
probably null |
Het |
Kirrel3 |
T |
C |
9: 34,855,738 (GRCm39) |
L86P |
probably damaging |
Het |
Lipo5 |
A |
C |
19: 33,450,530 (GRCm39) |
F21V |
|
Het |
Lrrc31 |
T |
A |
3: 30,733,267 (GRCm39) |
R482S |
probably benign |
Het |
Lrrc3b |
C |
T |
14: 15,358,159 (GRCm38) |
C149Y |
probably damaging |
Het |
Lrrk1 |
A |
G |
7: 65,919,573 (GRCm39) |
M446T |
probably benign |
Het |
Macroh2a2 |
A |
T |
10: 61,593,610 (GRCm39) |
I22N |
probably damaging |
Het |
Mettl14 |
C |
T |
3: 123,167,693 (GRCm39) |
D222N |
probably benign |
Het |
Mfsd4b3-ps |
G |
A |
10: 39,824,072 (GRCm39) |
H63Y |
probably benign |
Het |
Myo16 |
T |
C |
8: 10,426,175 (GRCm39) |
W311R |
probably damaging |
Het |
Nccrp1 |
A |
T |
7: 28,245,628 (GRCm39) |
N151K |
probably benign |
Het |
Obsl1 |
T |
C |
1: 75,480,493 (GRCm39) |
D377G |
probably damaging |
Het |
Or5b97 |
T |
A |
19: 12,878,578 (GRCm39) |
T189S |
probably benign |
Het |
Or5p80 |
T |
A |
7: 108,229,506 (GRCm39) |
C102* |
probably null |
Het |
Or7c19 |
T |
A |
8: 85,957,913 (GRCm39) |
I263N |
probably benign |
Het |
Or7c70 |
G |
T |
10: 78,683,576 (GRCm39) |
P58T |
probably damaging |
Het |
Pigb |
T |
C |
9: 72,945,983 (GRCm39) |
N63S |
probably damaging |
Het |
Plch2 |
T |
C |
4: 155,077,023 (GRCm39) |
E577G |
probably benign |
Het |
Prkab2 |
T |
C |
3: 97,573,943 (GRCm39) |
V194A |
probably benign |
Het |
Psd3 |
T |
C |
8: 68,416,461 (GRCm39) |
I479V |
probably benign |
Het |
Ralgapb |
C |
A |
2: 158,279,264 (GRCm39) |
P117T |
probably benign |
Het |
Ralgapb |
C |
G |
2: 158,337,389 (GRCm39) |
T1116R |
probably damaging |
Het |
Rpap2 |
T |
A |
5: 107,768,361 (GRCm39) |
S400T |
possibly damaging |
Het |
Rpgrip1l |
C |
A |
8: 92,007,456 (GRCm39) |
W378L |
possibly damaging |
Het |
Rps20 |
T |
A |
4: 3,834,617 (GRCm39) |
M82L |
probably benign |
Het |
Rps5 |
T |
C |
7: 12,659,440 (GRCm39) |
M77T |
possibly damaging |
Het |
Scaf11 |
A |
G |
15: 96,318,371 (GRCm39) |
S398P |
probably damaging |
Het |
Sdf2 |
T |
A |
11: 78,145,763 (GRCm39) |
D153E |
probably benign |
Het |
Selplg |
GTCTGCCTCCATGGGTGCTGGCTGCGAGGTCTCTGCCTCCATGGGTGCTGGCTGCGAGGTCTCTGCCTCCATGGGTGCTGGCTGCGAGGTCTCTGCCTCCATGGGTGCTGGCTGCGAGGTCTCT |
GTCTGCCTCCATGGGTGCTGGCTGCGAGGTCTCTGCCTCCATGGGTGCTGGCTGCGAGGTCTCTGCCTCCATGGGTGCTGGCTGCGAGGTCTCT |
5: 113,957,756 (GRCm39) |
|
probably benign |
Het |
Slc12a9 |
T |
C |
5: 137,329,270 (GRCm39) |
N128S |
probably damaging |
Het |
Slc25a32 |
C |
A |
15: 38,960,946 (GRCm39) |
G246C |
probably damaging |
Het |
Slc38a4 |
C |
T |
15: 96,914,662 (GRCm39) |
A64T |
probably benign |
Het |
Slit3 |
T |
C |
11: 35,589,207 (GRCm39) |
V1254A |
probably damaging |
Het |
Slx4 |
T |
C |
16: 3,808,111 (GRCm39) |
K481R |
probably benign |
Het |
Tcea1 |
A |
G |
1: 4,959,732 (GRCm39) |
T136A |
probably benign |
Het |
Thra |
A |
G |
11: 98,644,449 (GRCm39) |
D13G |
possibly damaging |
Het |
Tmed9 |
G |
A |
13: 55,744,775 (GRCm39) |
S227N |
probably benign |
Het |
Trim80 |
C |
A |
11: 115,331,538 (GRCm39) |
T20K |
probably benign |
Het |
Trmt61a |
G |
T |
12: 111,649,256 (GRCm39) |
V276L |
probably benign |
Het |
Trpc4ap |
T |
C |
2: 155,508,171 (GRCm39) |
D160G |
possibly damaging |
Het |
Ubr5 |
C |
T |
15: 38,029,825 (GRCm39) |
E467K |
|
Het |
Vars2 |
C |
A |
17: 35,972,541 (GRCm39) |
G26W |
probably damaging |
Het |
Vmn1r226 |
G |
T |
17: 20,908,287 (GRCm39) |
R173L |
possibly damaging |
Het |
Vmn1r29 |
G |
T |
6: 58,284,284 (GRCm39) |
M1I |
probably null |
Het |
Vmn2r3 |
G |
T |
3: 64,168,803 (GRCm39) |
P578Q |
possibly damaging |
Het |
Vmn2r57 |
A |
T |
7: 41,049,571 (GRCm39) |
I726N |
possibly damaging |
Het |
Zfp39 |
A |
T |
11: 58,780,946 (GRCm39) |
Y605* |
probably null |
Het |
|
Other mutations in Fam135b |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL00088:Fam135b
|
APN |
15 |
71,322,343 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL00565:Fam135b
|
APN |
15 |
71,343,361 (GRCm39) |
missense |
probably benign |
|
IGL00645:Fam135b
|
APN |
15 |
71,334,395 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL00686:Fam135b
|
APN |
15 |
71,334,168 (GRCm39) |
missense |
probably benign |
0.00 |
IGL00857:Fam135b
|
APN |
15 |
71,335,465 (GRCm39) |
missense |
probably benign |
0.16 |
IGL01443:Fam135b
|
APN |
15 |
71,335,213 (GRCm39) |
missense |
probably benign |
0.02 |
IGL01690:Fam135b
|
APN |
15 |
71,328,784 (GRCm39) |
missense |
probably benign |
0.19 |
IGL01920:Fam135b
|
APN |
15 |
71,493,885 (GRCm39) |
missense |
possibly damaging |
0.94 |
IGL01987:Fam135b
|
APN |
15 |
71,333,964 (GRCm39) |
missense |
probably benign |
|
IGL02154:Fam135b
|
APN |
15 |
71,320,559 (GRCm39) |
missense |
probably benign |
0.12 |
IGL03107:Fam135b
|
APN |
15 |
71,335,410 (GRCm39) |
missense |
probably benign |
|
IGL03264:Fam135b
|
APN |
15 |
71,334,637 (GRCm39) |
missense |
probably benign |
|
IGL03055:Fam135b
|
UTSW |
15 |
71,493,883 (GRCm39) |
missense |
possibly damaging |
0.51 |
R0010:Fam135b
|
UTSW |
15 |
71,493,881 (GRCm39) |
missense |
probably damaging |
1.00 |
R0010:Fam135b
|
UTSW |
15 |
71,493,881 (GRCm39) |
missense |
probably damaging |
1.00 |
R0230:Fam135b
|
UTSW |
15 |
71,317,886 (GRCm39) |
missense |
probably benign |
0.02 |
R0413:Fam135b
|
UTSW |
15 |
71,335,670 (GRCm39) |
missense |
probably benign |
0.45 |
R0524:Fam135b
|
UTSW |
15 |
71,334,133 (GRCm39) |
missense |
probably benign |
0.00 |
R0565:Fam135b
|
UTSW |
15 |
71,362,686 (GRCm39) |
missense |
possibly damaging |
0.88 |
R0628:Fam135b
|
UTSW |
15 |
71,320,505 (GRCm39) |
splice site |
probably benign |
|
R1415:Fam135b
|
UTSW |
15 |
71,328,777 (GRCm39) |
missense |
probably damaging |
0.99 |
R1462:Fam135b
|
UTSW |
15 |
71,493,845 (GRCm39) |
splice site |
probably benign |
|
R1701:Fam135b
|
UTSW |
15 |
71,331,578 (GRCm39) |
missense |
probably damaging |
1.00 |
R1797:Fam135b
|
UTSW |
15 |
71,324,290 (GRCm39) |
missense |
probably benign |
0.41 |
R1807:Fam135b
|
UTSW |
15 |
71,335,761 (GRCm39) |
missense |
probably benign |
|
R1835:Fam135b
|
UTSW |
15 |
71,362,560 (GRCm39) |
missense |
probably damaging |
1.00 |
R1905:Fam135b
|
UTSW |
15 |
71,404,836 (GRCm39) |
missense |
probably damaging |
1.00 |
R1937:Fam135b
|
UTSW |
15 |
71,493,863 (GRCm39) |
missense |
probably damaging |
1.00 |
R1998:Fam135b
|
UTSW |
15 |
71,324,253 (GRCm39) |
missense |
probably damaging |
0.98 |
R2076:Fam135b
|
UTSW |
15 |
71,350,092 (GRCm39) |
missense |
probably damaging |
0.99 |
R2518:Fam135b
|
UTSW |
15 |
71,335,760 (GRCm39) |
missense |
probably benign |
0.00 |
R3110:Fam135b
|
UTSW |
15 |
71,335,879 (GRCm39) |
missense |
probably benign |
0.05 |
R3112:Fam135b
|
UTSW |
15 |
71,335,879 (GRCm39) |
missense |
probably benign |
0.05 |
R3932:Fam135b
|
UTSW |
15 |
71,322,280 (GRCm39) |
missense |
probably benign |
0.29 |
R4361:Fam135b
|
UTSW |
15 |
71,362,676 (GRCm39) |
missense |
probably damaging |
1.00 |
R4397:Fam135b
|
UTSW |
15 |
71,320,525 (GRCm39) |
missense |
probably benign |
0.17 |
R4435:Fam135b
|
UTSW |
15 |
71,320,588 (GRCm39) |
missense |
probably damaging |
1.00 |
R4645:Fam135b
|
UTSW |
15 |
71,334,189 (GRCm39) |
missense |
probably benign |
|
R4740:Fam135b
|
UTSW |
15 |
71,335,920 (GRCm39) |
missense |
probably benign |
0.01 |
R4748:Fam135b
|
UTSW |
15 |
71,335,904 (GRCm39) |
missense |
probably benign |
0.00 |
R4754:Fam135b
|
UTSW |
15 |
71,334,800 (GRCm39) |
missense |
probably benign |
0.01 |
R5044:Fam135b
|
UTSW |
15 |
71,334,560 (GRCm39) |
missense |
probably benign |
0.02 |
R5469:Fam135b
|
UTSW |
15 |
71,317,892 (GRCm39) |
missense |
probably benign |
0.16 |
R5617:Fam135b
|
UTSW |
15 |
71,493,865 (GRCm39) |
missense |
probably damaging |
1.00 |
R5642:Fam135b
|
UTSW |
15 |
71,333,985 (GRCm39) |
missense |
probably damaging |
1.00 |
R5778:Fam135b
|
UTSW |
15 |
71,350,881 (GRCm39) |
missense |
probably damaging |
1.00 |
R5891:Fam135b
|
UTSW |
15 |
71,397,652 (GRCm39) |
missense |
probably damaging |
1.00 |
R5958:Fam135b
|
UTSW |
15 |
71,334,744 (GRCm39) |
missense |
|
|
R5982:Fam135b
|
UTSW |
15 |
71,320,518 (GRCm39) |
critical splice donor site |
probably null |
|
R5987:Fam135b
|
UTSW |
15 |
71,362,697 (GRCm39) |
missense |
probably benign |
0.00 |
R6535:Fam135b
|
UTSW |
15 |
71,493,924 (GRCm39) |
missense |
probably damaging |
0.99 |
R6734:Fam135b
|
UTSW |
15 |
71,334,629 (GRCm39) |
missense |
probably benign |
0.02 |
R6887:Fam135b
|
UTSW |
15 |
71,335,164 (GRCm39) |
missense |
probably damaging |
1.00 |
R7028:Fam135b
|
UTSW |
15 |
71,343,412 (GRCm39) |
missense |
probably damaging |
1.00 |
R7035:Fam135b
|
UTSW |
15 |
71,334,102 (GRCm39) |
missense |
possibly damaging |
0.77 |
R7097:Fam135b
|
UTSW |
15 |
71,493,917 (GRCm39) |
missense |
possibly damaging |
0.92 |
R7143:Fam135b
|
UTSW |
15 |
71,351,000 (GRCm39) |
missense |
probably benign |
0.44 |
R7414:Fam135b
|
UTSW |
15 |
71,350,105 (GRCm39) |
missense |
probably damaging |
0.97 |
R7439:Fam135b
|
UTSW |
15 |
71,335,529 (GRCm39) |
missense |
probably damaging |
0.98 |
R7441:Fam135b
|
UTSW |
15 |
71,335,529 (GRCm39) |
missense |
probably damaging |
0.98 |
R7545:Fam135b
|
UTSW |
15 |
71,322,359 (GRCm39) |
missense |
possibly damaging |
0.95 |
R7615:Fam135b
|
UTSW |
15 |
71,335,172 (GRCm39) |
missense |
probably damaging |
1.00 |
R7642:Fam135b
|
UTSW |
15 |
71,350,991 (GRCm39) |
missense |
possibly damaging |
0.51 |
R7649:Fam135b
|
UTSW |
15 |
71,334,429 (GRCm39) |
missense |
probably benign |
0.00 |
R7686:Fam135b
|
UTSW |
15 |
71,335,233 (GRCm39) |
missense |
possibly damaging |
0.68 |
R7866:Fam135b
|
UTSW |
15 |
71,333,925 (GRCm39) |
missense |
probably benign |
0.00 |
R8006:Fam135b
|
UTSW |
15 |
71,334,183 (GRCm39) |
missense |
probably benign |
0.00 |
R8068:Fam135b
|
UTSW |
15 |
71,404,827 (GRCm39) |
missense |
probably damaging |
1.00 |
R8167:Fam135b
|
UTSW |
15 |
71,404,840 (GRCm39) |
missense |
probably null |
1.00 |
R8252:Fam135b
|
UTSW |
15 |
71,404,872 (GRCm39) |
missense |
probably benign |
0.10 |
R8548:Fam135b
|
UTSW |
15 |
71,334,659 (GRCm39) |
missense |
probably damaging |
0.99 |
R8833:Fam135b
|
UTSW |
15 |
71,334,783 (GRCm39) |
missense |
probably benign |
0.04 |
R8961:Fam135b
|
UTSW |
15 |
71,404,812 (GRCm39) |
missense |
probably damaging |
1.00 |
R8987:Fam135b
|
UTSW |
15 |
71,334,189 (GRCm39) |
missense |
probably benign |
0.00 |
R9149:Fam135b
|
UTSW |
15 |
71,334,744 (GRCm39) |
missense |
|
|
R9161:Fam135b
|
UTSW |
15 |
71,334,417 (GRCm39) |
missense |
possibly damaging |
0.91 |
R9227:Fam135b
|
UTSW |
15 |
71,335,856 (GRCm39) |
missense |
probably benign |
0.28 |
R9230:Fam135b
|
UTSW |
15 |
71,335,856 (GRCm39) |
missense |
probably benign |
0.28 |
R9365:Fam135b
|
UTSW |
15 |
71,334,813 (GRCm39) |
missense |
probably benign |
0.00 |
R9622:Fam135b
|
UTSW |
15 |
71,397,686 (GRCm39) |
missense |
probably damaging |
0.98 |
R9758:Fam135b
|
UTSW |
15 |
71,324,199 (GRCm39) |
missense |
probably benign |
0.28 |
R9759:Fam135b
|
UTSW |
15 |
71,335,689 (GRCm39) |
missense |
probably benign |
0.44 |
T0722:Fam135b
|
UTSW |
15 |
71,335,734 (GRCm39) |
missense |
probably damaging |
1.00 |
T0975:Fam135b
|
UTSW |
15 |
71,335,734 (GRCm39) |
missense |
probably damaging |
1.00 |
Z1177:Fam135b
|
UTSW |
15 |
71,493,925 (GRCm39) |
start codon destroyed |
probably null |
0.06 |
|
Predicted Primers |
PCR Primer
(F):5'- ACCTCCATGTTAAATACTAGGCATG -3'
(R):5'- ACACTATTGCCTCCCAAGTG -3'
Sequencing Primer
(F):5'- TGTTAAATACTAGGCATGAAGCTGAG -3'
(R):5'- ATTGCCTCCCAAGTGTCACG -3'
|
Posted On |
2021-08-31 |