Incidental Mutation 'R7028:Fam135b'
ID |
546152 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Fam135b
|
Ensembl Gene |
ENSMUSG00000036800 |
Gene Name |
family with sequence similarity 135, member B |
Synonyms |
1700010C24Rik, A830008O07Rik |
MMRRC Submission |
045129-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R7028 (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 C
at 71343412 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Aspartic acid to Glycine
at position 401
(D401G)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000022953
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000022953]
|
AlphaFold |
Q9DAI6 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000022953
AA Change: D401G
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000022953 Gene: ENSMUSG00000036800 AA Change: D401G
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: 100.0%
- 10x: 99.7%
- 20x: 99.1%
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 73 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abcb11 |
A |
G |
2: 69,096,019 (GRCm39) |
I804T |
probably benign |
Het |
Abcb1b |
A |
T |
5: 8,855,441 (GRCm39) |
E25V |
probably damaging |
Het |
Adamts9 |
G |
T |
6: 92,886,774 (GRCm39) |
Y355* |
probably null |
Het |
Akp3 |
A |
G |
1: 87,054,500 (GRCm39) |
M303V |
probably benign |
Het |
Ankrd35 |
A |
T |
3: 96,590,650 (GRCm39) |
E312V |
possibly damaging |
Het |
Arhgap40 |
T |
C |
2: 158,373,294 (GRCm39) |
|
probably null |
Het |
Asxl1 |
T |
C |
2: 153,242,027 (GRCm39) |
L859P |
probably benign |
Het |
Atat1 |
A |
G |
17: 36,220,897 (GRCm39) |
F11L |
probably benign |
Het |
Bach1 |
G |
A |
16: 87,516,179 (GRCm39) |
R240Q |
probably benign |
Het |
Ccdc7a |
A |
T |
8: 129,608,075 (GRCm39) |
H943Q |
unknown |
Het |
Cep135 |
A |
G |
5: 76,764,695 (GRCm39) |
T558A |
probably benign |
Het |
Cfap99 |
A |
G |
5: 34,458,863 (GRCm39) |
E86G |
possibly damaging |
Het |
Cfhr2 |
C |
T |
1: 139,758,801 (GRCm39) |
|
probably null |
Het |
Cmtm1 |
CGGCACGTACTGAAGGTCGCTGACTGGATGGTGTGGCACGTACTGAAGGTCGCTGACTGGATGGTGTGGCACGTACTGAAGGTCGCTGACTGGATGGT |
CGGCACGTACTGAAGGTCGCTGACTGGATGGTGTGGCACGTACTGAAGGTCGCTGACTGGATGGT |
8: 105,036,102 (GRCm39) |
|
probably benign |
Het |
Col17a1 |
G |
A |
19: 47,640,622 (GRCm39) |
P992L |
probably damaging |
Het |
Col7a1 |
C |
T |
9: 108,792,331 (GRCm39) |
Q1294* |
probably null |
Het |
Coq8b |
T |
A |
7: 26,939,293 (GRCm39) |
C148S |
probably damaging |
Het |
Csmd2 |
A |
G |
4: 128,171,021 (GRCm39) |
N338S |
|
Het |
Cspg5 |
T |
A |
9: 110,075,959 (GRCm39) |
S232T |
possibly damaging |
Het |
Cyp2c67 |
A |
G |
19: 39,628,341 (GRCm39) |
V201A |
possibly damaging |
Het |
Dlgap3 |
G |
A |
4: 127,089,310 (GRCm39) |
R302H |
possibly damaging |
Het |
Dpy19l2 |
T |
C |
9: 24,539,547 (GRCm39) |
I469V |
probably benign |
Het |
Gabbr1 |
G |
T |
17: 37,375,629 (GRCm39) |
G453* |
probably null |
Het |
Gclc |
C |
A |
9: 77,695,498 (GRCm39) |
A440D |
probably damaging |
Het |
Glyat |
T |
C |
19: 12,627,723 (GRCm39) |
I106T |
probably benign |
Het |
Gm12185 |
T |
C |
11: 48,799,071 (GRCm39) |
N474S |
possibly damaging |
Het |
Gm17079 |
T |
C |
14: 51,930,494 (GRCm39) |
H117R |
|
Het |
Ift70a2 |
A |
T |
2: 75,806,613 (GRCm39) |
L633* |
probably null |
Het |
Ildr2 |
A |
G |
1: 166,131,098 (GRCm39) |
D318G |
probably damaging |
Het |
Kcnd2 |
G |
A |
6: 21,216,177 (GRCm39) |
|
probably benign |
Het |
Kif19a |
C |
T |
11: 114,672,034 (GRCm39) |
T207M |
probably damaging |
Het |
Kif3a |
G |
T |
11: 53,477,733 (GRCm39) |
G401* |
probably null |
Het |
Lactbl1 |
T |
A |
4: 136,360,286 (GRCm39) |
L155Q |
probably damaging |
Het |
Lrp1b |
T |
A |
2: 41,136,023 (GRCm39) |
D1649V |
probably benign |
Het |
Lrrc37 |
C |
T |
11: 103,505,363 (GRCm39) |
A26T |
probably benign |
Het |
Map2k1 |
A |
G |
9: 64,101,105 (GRCm39) |
V191A |
probably benign |
Het |
Mdm4 |
A |
T |
1: 132,931,547 (GRCm39) |
C165S |
probably benign |
Het |
Med27 |
G |
A |
2: 29,399,446 (GRCm39) |
W92* |
probably null |
Het |
Muc20 |
A |
T |
16: 32,614,616 (GRCm39) |
S254T |
probably benign |
Het |
Myh1 |
A |
G |
11: 67,111,247 (GRCm39) |
E1562G |
possibly damaging |
Het |
Nlrp2 |
C |
G |
7: 5,331,571 (GRCm39) |
R275P |
possibly damaging |
Het |
Notch2 |
T |
A |
3: 98,009,703 (GRCm39) |
N543K |
probably damaging |
Het |
Nup214 |
T |
A |
2: 31,924,168 (GRCm39) |
S1566T |
probably benign |
Het |
Nxnl1 |
T |
G |
8: 72,015,437 (GRCm39) |
E157A |
possibly damaging |
Het |
Obscn |
A |
G |
11: 58,969,959 (GRCm39) |
L61P |
probably damaging |
Het |
Ogg1 |
A |
T |
6: 113,306,237 (GRCm39) |
I145F |
probably damaging |
Het |
Or10d5j |
T |
C |
9: 39,867,641 (GRCm39) |
T197A |
probably benign |
Het |
Or2b2 |
A |
G |
13: 21,887,440 (GRCm39) |
K90E |
possibly damaging |
Het |
Or2f1 |
G |
A |
6: 42,721,337 (GRCm39) |
R122H |
probably benign |
Het |
Or51h5 |
T |
C |
7: 102,577,149 (GRCm39) |
F105L |
probably damaging |
Het |
Pclo |
A |
G |
5: 14,763,461 (GRCm39) |
D3978G |
unknown |
Het |
Pla2g4e |
T |
G |
2: 120,000,676 (GRCm39) |
D687A |
probably damaging |
Het |
Pla2r1 |
T |
C |
2: 60,288,737 (GRCm39) |
K632E |
probably damaging |
Het |
Plg |
A |
T |
17: 12,610,723 (GRCm39) |
Q212L |
probably damaging |
Het |
Poldip3 |
A |
T |
15: 83,015,698 (GRCm39) |
N306K |
probably damaging |
Het |
Pspn |
A |
G |
17: 57,306,978 (GRCm39) |
L13P |
possibly damaging |
Het |
Ralgapa1 |
T |
C |
12: 55,804,844 (GRCm39) |
E484G |
probably damaging |
Het |
Rbmxl1 |
G |
T |
8: 79,233,286 (GRCm39) |
T19K |
probably damaging |
Het |
Rora |
G |
A |
9: 69,103,365 (GRCm39) |
V31I |
possibly damaging |
Het |
Skint5 |
C |
A |
4: 113,798,036 (GRCm39) |
W182C |
probably damaging |
Het |
Spata31d1c |
A |
T |
13: 65,183,877 (GRCm39) |
Q473L |
probably damaging |
Het |
Tesk2 |
G |
A |
4: 116,659,884 (GRCm39) |
W334* |
probably null |
Het |
Tmem67 |
C |
A |
4: 12,075,484 (GRCm39) |
V277L |
probably benign |
Het |
Trhde |
A |
G |
10: 114,354,082 (GRCm39) |
M537T |
probably damaging |
Het |
Tubb6 |
G |
A |
18: 67,534,981 (GRCm39) |
M293I |
probably benign |
Het |
Ube2ql1 |
A |
T |
13: 69,886,873 (GRCm39) |
L196Q |
probably damaging |
Het |
Ubn1 |
A |
T |
16: 4,873,188 (GRCm39) |
N70I |
probably damaging |
Het |
Ubtf |
A |
T |
11: 102,205,806 (GRCm39) |
S40T |
probably benign |
Het |
Virma |
C |
T |
4: 11,519,249 (GRCm39) |
A782V |
possibly damaging |
Het |
Xdh |
G |
T |
17: 74,250,868 (GRCm39) |
T28K |
probably damaging |
Het |
Xpo4 |
A |
G |
14: 57,834,508 (GRCm39) |
S691P |
probably benign |
Het |
Zfat |
A |
C |
15: 68,052,301 (GRCm39) |
F491V |
probably damaging |
Het |
Zfp623 |
T |
G |
15: 75,820,154 (GRCm39) |
V370G |
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 |
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'- CCCTACTCCTAGTGTTGTGAAG -3'
(R):5'- GATGGTCATTGCTCACATCTG -3'
Sequencing Primer
(F):5'- CTAGTGTTGTGAAGAGTGAGCACC -3'
(R):5'- ACATCCGGAACTCAGAGT -3'
|
Posted On |
2019-05-13 |