Incidental Mutation 'R1462:Fam135b'
ID |
186347 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Fam135b
|
Ensembl Gene |
ENSMUSG00000036800 |
Gene Name |
family with sequence similarity 135, member B |
Synonyms |
1700010C24Rik, A830008O07Rik |
MMRRC Submission |
039516-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R1462 (G1)
|
Quality Score |
186 |
Status
|
Validated
|
Chromosome |
15 |
Chromosomal Location |
71310800-71600282 bp(-) (GRCm39) |
Type of Mutation |
splice site |
DNA Base Change (assembly) |
A to G
at 71493845 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
|
Ref Sequence |
ENSEMBL: ENSMUSP00000155239
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000022953]
[ENSMUST00000229189]
|
AlphaFold |
Q9DAI6 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000022953
|
SMART Domains |
Protein: ENSMUSP00000022953 Gene: ENSMUSG00000036800
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 |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000229189
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000230569
|
Meta Mutation Damage Score |
0.0898 |
Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.3%
- 10x: 96.0%
- 20x: 92.0%
|
Validation Efficiency |
99% (83/84) |
Allele List at MGI |
|
Other mutations in this stock |
Total: 83 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
4930433I11Rik |
C |
A |
7: 40,642,370 (GRCm39) |
S104* |
probably null |
Het |
A430093F15Rik |
A |
T |
19: 10,762,845 (GRCm39) |
|
probably benign |
Het |
Abca13 |
T |
A |
11: 9,433,924 (GRCm39) |
|
probably benign |
Het |
Abca9 |
T |
C |
11: 110,051,342 (GRCm39) |
D118G |
probably benign |
Het |
Adamts16 |
A |
G |
13: 70,984,253 (GRCm39) |
F137L |
probably benign |
Het |
Adamts3 |
T |
C |
5: 90,009,208 (GRCm39) |
I152V |
probably benign |
Het |
Adcy4 |
T |
A |
14: 56,015,765 (GRCm39) |
E441D |
possibly damaging |
Het |
Adgra1 |
T |
A |
7: 139,455,745 (GRCm39) |
Y458N |
probably damaging |
Het |
Atpaf1 |
C |
T |
4: 115,642,150 (GRCm39) |
|
probably benign |
Het |
Bhlhe22 |
C |
G |
3: 18,109,946 (GRCm39) |
S332C |
probably damaging |
Het |
Card19 |
T |
A |
13: 49,358,760 (GRCm39) |
Q71L |
probably benign |
Het |
Ccdc12 |
T |
C |
9: 110,485,662 (GRCm39) |
L11P |
probably damaging |
Het |
Cdadc1 |
A |
G |
14: 59,813,307 (GRCm39) |
Y367H |
probably damaging |
Het |
Cdc5l |
G |
T |
17: 45,719,288 (GRCm39) |
Q542K |
possibly damaging |
Het |
Ceacam23 |
T |
G |
7: 17,649,516 (GRCm39) |
|
noncoding transcript |
Het |
Cep170 |
T |
C |
1: 176,584,211 (GRCm39) |
K723E |
possibly damaging |
Het |
Cep70 |
A |
G |
9: 99,145,773 (GRCm39) |
I147V |
probably benign |
Het |
Cfap58 |
A |
T |
19: 47,950,869 (GRCm39) |
H410L |
probably damaging |
Het |
Chat |
T |
C |
14: 32,142,735 (GRCm39) |
K418R |
probably damaging |
Het |
Cic |
T |
G |
7: 24,971,032 (GRCm39) |
D254E |
probably damaging |
Het |
Ckap4 |
T |
C |
10: 84,363,431 (GRCm39) |
E544G |
probably damaging |
Het |
Crnkl1 |
C |
T |
2: 145,763,739 (GRCm39) |
A500T |
probably damaging |
Het |
Cyp2c38 |
T |
C |
19: 39,380,632 (GRCm39) |
N418D |
probably damaging |
Het |
Daam1 |
A |
T |
12: 71,990,916 (GRCm39) |
I177L |
unknown |
Het |
Dnah1 |
T |
C |
14: 30,990,738 (GRCm39) |
|
probably benign |
Het |
Ercc5 |
A |
G |
1: 44,219,784 (GRCm39) |
T1019A |
probably damaging |
Het |
F13b |
T |
A |
1: 139,435,374 (GRCm39) |
V173E |
probably damaging |
Het |
Fam20a |
A |
C |
11: 109,568,143 (GRCm39) |
F316V |
probably damaging |
Het |
Flrt2 |
T |
C |
12: 95,746,112 (GRCm39) |
V150A |
probably damaging |
Het |
Fnta |
A |
C |
8: 26,489,599 (GRCm39) |
|
probably null |
Het |
Ghsr |
A |
G |
3: 27,426,025 (GRCm39) |
D27G |
probably benign |
Het |
Glis3 |
G |
T |
19: 28,239,918 (GRCm39) |
|
probably benign |
Het |
Gtpbp1 |
A |
G |
15: 79,592,086 (GRCm39) |
N96D |
probably damaging |
Het |
H1f7 |
A |
T |
15: 98,154,454 (GRCm39) |
W232R |
unknown |
Het |
Hycc1 |
A |
G |
5: 24,190,730 (GRCm39) |
|
probably benign |
Het |
Ibtk |
A |
T |
9: 85,606,198 (GRCm39) |
I443N |
probably damaging |
Het |
Ifi207 |
T |
C |
1: 173,552,513 (GRCm39) |
H968R |
probably damaging |
Het |
Ifit2 |
A |
G |
19: 34,550,586 (GRCm39) |
D42G |
probably null |
Het |
Il17rc |
A |
T |
6: 113,455,950 (GRCm39) |
D265V |
probably damaging |
Het |
Ints10 |
G |
A |
8: 69,260,296 (GRCm39) |
|
probably benign |
Het |
Itfg2 |
T |
C |
6: 128,401,691 (GRCm39) |
D29G |
probably damaging |
Het |
Itprid1 |
A |
G |
6: 55,952,649 (GRCm39) |
H864R |
probably damaging |
Het |
Kcng3 |
A |
T |
17: 83,938,492 (GRCm39) |
C186S |
probably damaging |
Het |
Lrrc1 |
A |
G |
9: 77,349,547 (GRCm39) |
F295L |
probably benign |
Het |
Mrps28 |
T |
A |
3: 8,965,184 (GRCm39) |
H85L |
possibly damaging |
Het |
Mtpn |
T |
A |
6: 35,499,693 (GRCm39) |
K37M |
possibly damaging |
Het |
Mug1 |
C |
T |
6: 121,859,588 (GRCm39) |
H1196Y |
probably benign |
Het |
Mup4 |
T |
C |
4: 59,960,084 (GRCm39) |
H60R |
possibly damaging |
Het |
Musk |
A |
G |
4: 58,286,204 (GRCm39) |
|
probably benign |
Het |
Mybl2 |
T |
C |
2: 162,914,628 (GRCm39) |
S249P |
probably benign |
Het |
Naip6 |
A |
G |
13: 100,436,748 (GRCm39) |
Y592H |
possibly damaging |
Het |
Nrp1 |
A |
G |
8: 129,229,279 (GRCm39) |
N919S |
probably benign |
Het |
Nudt9 |
C |
T |
5: 104,212,904 (GRCm39) |
Q326* |
probably null |
Het |
Or5w13 |
A |
T |
2: 87,523,720 (GRCm39) |
C169S |
probably damaging |
Het |
Or6c76b |
A |
G |
10: 129,693,100 (GRCm39) |
T238A |
probably damaging |
Het |
Or7g17 |
T |
A |
9: 18,768,407 (GRCm39) |
M162K |
probably benign |
Het |
Or9k7 |
T |
A |
10: 130,046,592 (GRCm39) |
I136F |
probably benign |
Het |
Pcsk4 |
T |
C |
10: 80,161,815 (GRCm39) |
E142G |
probably damaging |
Het |
Pde3a |
C |
A |
6: 141,405,560 (GRCm39) |
P471T |
probably benign |
Het |
Pign |
A |
T |
1: 105,512,727 (GRCm39) |
V652E |
possibly damaging |
Het |
Prkcb |
T |
A |
7: 122,181,672 (GRCm39) |
M420K |
probably damaging |
Het |
Prr14 |
T |
A |
7: 127,073,160 (GRCm39) |
|
probably null |
Het |
Rchy1 |
T |
A |
5: 92,105,741 (GRCm39) |
Q69L |
probably damaging |
Het |
Sccpdh |
A |
C |
1: 179,509,125 (GRCm39) |
|
probably benign |
Het |
Sec23ip |
T |
G |
7: 128,367,862 (GRCm39) |
S625A |
probably benign |
Het |
Smpdl3b |
A |
G |
4: 132,473,925 (GRCm39) |
S47P |
probably damaging |
Het |
Speer4a3 |
T |
A |
5: 26,156,623 (GRCm39) |
I119F |
possibly damaging |
Het |
Stil |
G |
A |
4: 114,881,161 (GRCm39) |
M568I |
probably benign |
Het |
Syt3 |
T |
A |
7: 44,045,434 (GRCm39) |
V558E |
probably damaging |
Het |
Sytl3 |
A |
G |
17: 6,973,430 (GRCm39) |
|
probably benign |
Het |
Szt2 |
A |
G |
4: 118,231,164 (GRCm39) |
V2533A |
unknown |
Het |
Tenm4 |
A |
G |
7: 96,353,360 (GRCm39) |
Y384C |
probably damaging |
Het |
Tfam |
T |
C |
10: 71,071,380 (GRCm39) |
E94G |
probably damaging |
Het |
Tmbim7 |
A |
G |
5: 3,714,304 (GRCm39) |
T14A |
probably damaging |
Het |
Tmtc2 |
A |
T |
10: 105,409,566 (GRCm39) |
Y15* |
probably null |
Het |
Uhrf1 |
C |
T |
17: 56,625,035 (GRCm39) |
A526V |
probably damaging |
Het |
Vmn2r67 |
T |
C |
7: 84,805,046 (GRCm39) |
D22G |
probably benign |
Het |
Vmn2r96 |
A |
G |
17: 18,817,660 (GRCm39) |
I412M |
possibly damaging |
Het |
Vmn2r-ps69 |
T |
A |
7: 84,959,560 (GRCm39) |
|
noncoding transcript |
Het |
Wdr17 |
A |
T |
8: 55,123,363 (GRCm39) |
I479K |
probably damaging |
Het |
Wt1 |
T |
C |
2: 104,997,176 (GRCm39) |
V371A |
probably damaging |
Het |
Zfp536 |
G |
T |
7: 37,178,735 (GRCm39) |
S226Y |
probably damaging |
Het |
Zfp827 |
T |
C |
8: 79,803,108 (GRCm39) |
V560A |
probably benign |
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 |
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 |
R8955:Fam135b
|
UTSW |
15 |
71,334,063 (GRCm39) |
missense |
possibly damaging |
0.85 |
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'- GCATAAACCTTCCATCTGCAAACTCACT -3'
(R):5'- GGTCTTGCCCATCTAAGCATTGCTA -3'
Sequencing Primer
(F):5'- GGATGAAGGAAATTAGCTCTTAGTC -3'
(R):5'- GCCCATCTAAGCATTGCTAAGTTG -3'
|
Posted On |
2014-05-09 |