Incidental Mutation 'R8167:Fam135b'
ID |
633871 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Fam135b
|
Ensembl Gene |
ENSMUSG00000036800 |
Gene Name |
family with sequence similarity 135, member B |
Synonyms |
1700010C24Rik, A830008O07Rik |
MMRRC Submission |
067593-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R8167 (G1)
|
Quality Score |
225.009 |
Status
|
Not validated
|
Chromosome |
15 |
Chromosomal Location |
71310800-71600282 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to A
at 71404840 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Serine to Cysteine
at position 69
(S69C)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000022953
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000022953]
|
AlphaFold |
Q9DAI6 |
Predicted Effect |
probably null
Transcript: ENSMUST00000022953
AA Change: S69C
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000022953 Gene: ENSMUSG00000036800 AA Change: S69C
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: 99.5%
- 20x: 98.5%
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 75 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
4931406B18Rik |
T |
A |
7: 43,147,288 (GRCm39) |
I315F |
possibly damaging |
Het |
Aadacl2fm3 |
T |
A |
3: 59,784,632 (GRCm39) |
D368E |
probably benign |
Het |
Acin1 |
G |
A |
14: 54,902,337 (GRCm39) |
T485I |
probably benign |
Het |
Adamts2 |
A |
T |
11: 50,670,541 (GRCm39) |
I552F |
probably damaging |
Het |
Anapc11 |
T |
A |
11: 120,490,112 (GRCm39) |
N9K |
probably benign |
Het |
Arhgef18 |
A |
T |
8: 3,403,636 (GRCm39) |
|
probably benign |
Het |
Atp9b |
T |
C |
18: 80,890,398 (GRCm39) |
T314A |
|
Het |
Birc6 |
T |
A |
17: 74,950,389 (GRCm39) |
I3214N |
probably damaging |
Het |
Catsperb |
A |
G |
12: 101,557,714 (GRCm39) |
I762V |
probably benign |
Het |
Cblb |
T |
A |
16: 51,986,365 (GRCm39) |
M536K |
probably benign |
Het |
Ccdc85c |
C |
A |
12: 108,240,759 (GRCm39) |
A212S |
unknown |
Het |
Cdh23 |
T |
A |
10: 60,150,162 (GRCm39) |
D2561V |
probably benign |
Het |
Cdh23 |
T |
A |
10: 60,173,472 (GRCm39) |
Y1672F |
probably damaging |
Het |
Cep83 |
T |
C |
10: 94,564,579 (GRCm39) |
S173P |
possibly damaging |
Het |
Ctc1 |
C |
T |
11: 68,918,584 (GRCm39) |
P530S |
probably damaging |
Het |
D630045J12Rik |
A |
G |
6: 38,167,484 (GRCm39) |
|
probably null |
Het |
Dnah7b |
A |
T |
1: 46,292,671 (GRCm39) |
I3019F |
possibly damaging |
Het |
Dsc1 |
T |
C |
18: 20,230,258 (GRCm39) |
D349G |
probably damaging |
Het |
Ehd2 |
C |
G |
7: 15,697,917 (GRCm39) |
G107R |
probably damaging |
Het |
Epha3 |
A |
T |
16: 63,388,804 (GRCm39) |
W816R |
probably damaging |
Het |
Fbxo43 |
A |
G |
15: 36,151,917 (GRCm39) |
F600S |
probably damaging |
Het |
Flnc |
A |
T |
6: 29,455,921 (GRCm39) |
D2117V |
probably damaging |
Het |
Gas2l3 |
T |
A |
10: 89,262,342 (GRCm39) |
T127S |
probably damaging |
Het |
Gli3 |
T |
G |
13: 15,900,228 (GRCm39) |
L1205R |
probably benign |
Het |
Gm17093 |
A |
T |
14: 44,758,139 (GRCm39) |
I107F |
|
Het |
Gm7298 |
T |
A |
6: 121,761,414 (GRCm39) |
C1323* |
probably null |
Het |
H2-D1 |
A |
G |
17: 35,485,741 (GRCm39) |
T89A |
|
Het |
Hira |
T |
G |
16: 18,715,259 (GRCm39) |
D52E |
probably benign |
Het |
Ighv6-6 |
G |
C |
12: 114,398,525 (GRCm39) |
Y80* |
probably null |
Het |
Kat6b |
C |
T |
14: 21,719,953 (GRCm39) |
T1435I |
probably damaging |
Het |
Kcna1 |
C |
A |
6: 126,620,443 (GRCm39) |
|
probably benign |
Het |
Kif24 |
C |
A |
4: 41,392,957 (GRCm39) |
R1284L |
possibly damaging |
Het |
Kremen2 |
A |
C |
17: 23,962,314 (GRCm39) |
C173G |
probably damaging |
Het |
Krtap24-1 |
G |
C |
16: 88,408,707 (GRCm39) |
Q140E |
probably benign |
Het |
Lrrc66 |
C |
A |
5: 73,786,952 (GRCm39) |
G133* |
probably null |
Het |
Mast1 |
C |
A |
8: 85,647,987 (GRCm39) |
R498L |
probably damaging |
Het |
Myom3 |
T |
C |
4: 135,534,504 (GRCm39) |
I1231T |
possibly damaging |
Het |
Nid2 |
G |
A |
14: 19,860,131 (GRCm39) |
V1350I |
possibly damaging |
Het |
Or4f59 |
A |
T |
2: 111,872,789 (GRCm39) |
V196D |
possibly damaging |
Het |
Or8j3c |
A |
G |
2: 86,253,484 (GRCm39) |
C179R |
probably damaging |
Het |
Or9r3 |
T |
C |
10: 129,948,350 (GRCm39) |
Q103R |
probably damaging |
Het |
Pde4a |
A |
G |
9: 21,117,469 (GRCm39) |
D577G |
possibly damaging |
Het |
Pde4d |
T |
A |
13: 109,578,855 (GRCm39) |
N36K |
probably benign |
Het |
Plekhg1 |
A |
T |
10: 3,907,452 (GRCm39) |
S845C |
|
Het |
Plekhg1 |
G |
A |
10: 3,907,453 (GRCm39) |
S845N |
|
Het |
Plod1 |
C |
T |
4: 148,004,658 (GRCm39) |
D481N |
probably damaging |
Het |
Plxna4 |
T |
A |
6: 32,493,981 (GRCm39) |
M212L |
probably damaging |
Het |
Ppip5k1 |
C |
A |
2: 121,173,282 (GRCm39) |
E464* |
probably null |
Het |
Raph1 |
T |
A |
1: 60,529,270 (GRCm39) |
M664L |
unknown |
Het |
Rbm11 |
A |
C |
16: 75,395,673 (GRCm39) |
M115L |
probably benign |
Het |
Rerg |
T |
C |
6: 137,034,869 (GRCm39) |
H45R |
possibly damaging |
Het |
Rnf43 |
A |
G |
11: 87,618,232 (GRCm39) |
E47G |
probably benign |
Het |
Rsph1 |
A |
G |
17: 31,496,260 (GRCm39) |
|
probably benign |
Het |
Safb |
A |
G |
17: 56,892,286 (GRCm39) |
E42G |
unknown |
Het |
Scn1a |
A |
T |
2: 66,155,182 (GRCm39) |
D592E |
probably damaging |
Het |
Sdf4 |
T |
G |
4: 156,093,379 (GRCm39) |
V237G |
possibly damaging |
Het |
Slc44a2 |
C |
A |
9: 21,258,068 (GRCm39) |
H439Q |
possibly damaging |
Het |
Smg7 |
A |
T |
1: 152,720,123 (GRCm39) |
N761K |
possibly damaging |
Het |
Snrpb2 |
A |
G |
2: 142,910,284 (GRCm39) |
E114G |
probably benign |
Het |
Spmip11 |
A |
G |
15: 98,486,548 (GRCm39) |
H106R |
probably benign |
Het |
Ssh1 |
T |
C |
5: 114,090,051 (GRCm39) |
D346G |
possibly damaging |
Het |
Svopl |
T |
A |
6: 37,993,979 (GRCm39) |
I351F |
probably damaging |
Het |
Tgfb2 |
A |
G |
1: 186,422,942 (GRCm39) |
S136P |
possibly damaging |
Het |
Thsd7a |
A |
T |
6: 12,317,400 (GRCm39) |
L1636* |
probably null |
Het |
Tmc2 |
A |
G |
2: 130,083,488 (GRCm39) |
T482A |
probably benign |
Het |
Tnk2 |
C |
A |
16: 32,499,080 (GRCm39) |
P798T |
probably damaging |
Het |
Trim5 |
T |
C |
7: 103,927,630 (GRCm39) |
Y170C |
probably damaging |
Het |
Ttll10 |
T |
C |
4: 156,129,213 (GRCm39) |
M310V |
probably null |
Het |
Unc13c |
T |
A |
9: 73,643,985 (GRCm39) |
T1160S |
probably damaging |
Het |
Usp25 |
A |
T |
16: 76,904,819 (GRCm39) |
D795V |
probably damaging |
Het |
Usp28 |
T |
A |
9: 48,949,148 (GRCm39) |
V914E |
probably damaging |
Het |
Utrn |
A |
T |
10: 12,547,558 (GRCm39) |
C1627* |
probably null |
Het |
Vmn1r28 |
C |
A |
6: 58,243,052 (GRCm39) |
F298L |
noncoding transcript |
Het |
Vps29 |
T |
C |
5: 122,500,877 (GRCm39) |
S69P |
possibly damaging |
Het |
Zfp703 |
T |
A |
8: 27,469,782 (GRCm39) |
L482H |
probably damaging |
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 |
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'- ACCTGGGGTCCAACAATGAG -3'
(R):5'- ATGGGGCTTTTAAGTACTGATCAAC -3'
Sequencing Primer
(F):5'- TCCAACAATGAGAGGAAATGGTTTAG -3'
(R):5'- ACACAGATGTTCTCATGATGCGG -3'
|
Posted On |
2020-07-13 |