Incidental Mutation 'R7545:Fam135b'
ID |
584187 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Fam135b
|
Ensembl Gene |
ENSMUSG00000036800 |
Gene Name |
family with sequence similarity 135, member B |
Synonyms |
1700010C24Rik, A830008O07Rik |
MMRRC Submission |
045650-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R7545 (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 71322359 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Lysine to Glutamic Acid
at position 1269
(K1269E)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000022953
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000022953]
|
AlphaFold |
Q9DAI6 |
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000022953
AA Change: K1269E
PolyPhen 2
Score 0.952 (Sensitivity: 0.79; Specificity: 0.95)
|
SMART Domains |
Protein: ENSMUSP00000022953 Gene: ENSMUSG00000036800 AA Change: K1269E
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: 99.7%
- 20x: 99.0%
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 71 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
1700028K03Rik |
T |
C |
5: 107,696,040 (GRCm39) |
Y159H |
probably damaging |
Het |
A1cf |
A |
T |
19: 31,912,190 (GRCm39) |
N435I |
possibly damaging |
Het |
Aasdh |
A |
T |
5: 77,027,861 (GRCm39) |
F849I |
probably damaging |
Het |
Aatf |
A |
T |
11: 84,361,502 (GRCm39) |
M367K |
probably benign |
Het |
Acnat1 |
A |
T |
4: 49,449,142 (GRCm39) |
L208* |
probably null |
Het |
Adam26b |
C |
T |
8: 43,974,750 (GRCm39) |
G84D |
probably damaging |
Het |
Adamtsl1 |
A |
T |
4: 85,683,092 (GRCm39) |
E54D |
probably damaging |
Het |
Ang6 |
T |
G |
14: 44,239,636 (GRCm39) |
I31L |
probably benign |
Het |
Asic4 |
A |
G |
1: 75,449,060 (GRCm39) |
N403S |
probably damaging |
Het |
Bicd1 |
G |
A |
6: 149,414,990 (GRCm39) |
V568M |
probably benign |
Het |
Ccdc192 |
A |
G |
18: 57,863,895 (GRCm39) |
E233G |
probably damaging |
Het |
Cfap45 |
A |
T |
1: 172,366,163 (GRCm39) |
M339L |
probably benign |
Het |
Cnga4 |
A |
G |
7: 105,056,286 (GRCm39) |
D399G |
probably damaging |
Het |
Csnk1g3 |
C |
T |
18: 54,028,897 (GRCm39) |
R17W |
probably damaging |
Het |
Dnah11 |
A |
G |
12: 117,894,939 (GRCm39) |
F3636S |
probably damaging |
Het |
Dscaml1 |
A |
T |
9: 45,596,681 (GRCm39) |
T842S |
probably benign |
Het |
Ets2 |
C |
A |
16: 95,516,127 (GRCm39) |
Q236K |
probably benign |
Het |
Ext2 |
C |
A |
2: 93,644,108 (GRCm39) |
V58L |
probably benign |
Het |
Fech |
A |
G |
18: 64,597,185 (GRCm39) |
L258P |
probably damaging |
Het |
Gls |
A |
G |
1: 52,230,311 (GRCm39) |
S467P |
probably damaging |
Het |
Gm19410 |
T |
A |
8: 36,269,779 (GRCm39) |
D1141E |
probably damaging |
Het |
Gm45861 |
T |
G |
8: 28,071,032 (GRCm39) |
M1246R |
unknown |
Het |
Gm6902 |
T |
A |
7: 22,973,087 (GRCm39) |
I147L |
probably benign |
Het |
Itga7 |
G |
T |
10: 128,769,775 (GRCm39) |
|
probably benign |
Het |
Itpripl1 |
A |
T |
2: 126,983,581 (GRCm39) |
C180* |
probably null |
Het |
Klhl33 |
C |
A |
14: 51,130,631 (GRCm39) |
V28F |
probably damaging |
Het |
Kmo |
A |
T |
1: 175,481,194 (GRCm39) |
D304V |
probably damaging |
Het |
Mier2 |
T |
C |
10: 79,377,028 (GRCm39) |
N537S |
possibly damaging |
Het |
Mroh9 |
A |
G |
1: 162,902,277 (GRCm39) |
I112T |
possibly damaging |
Het |
Mterf1a |
T |
A |
5: 3,940,995 (GRCm39) |
E291V |
probably damaging |
Het |
Muc5ac |
T |
A |
7: 141,362,405 (GRCm39) |
N1905K |
unknown |
Het |
Myt1l |
G |
A |
12: 29,877,087 (GRCm39) |
R246Q |
unknown |
Het |
Nav2 |
A |
G |
7: 49,232,605 (GRCm39) |
E1854G |
probably damaging |
Het |
Nelfcd |
A |
G |
2: 174,265,771 (GRCm39) |
|
probably null |
Het |
Nf1 |
T |
A |
11: 79,300,350 (GRCm39) |
D287E |
probably benign |
Het |
Nfyc |
T |
C |
4: 120,630,966 (GRCm39) |
|
probably null |
Het |
Obscn |
A |
T |
11: 58,929,725 (GRCm39) |
D5163E |
probably damaging |
Het |
Or10d4c |
C |
T |
9: 39,558,403 (GRCm39) |
P127L |
probably damaging |
Het |
Or8g28 |
T |
A |
9: 39,169,984 (GRCm39) |
|
probably null |
Het |
Plppr1 |
A |
T |
4: 49,320,002 (GRCm39) |
L209F |
possibly damaging |
Het |
Pmm1 |
T |
C |
15: 81,835,803 (GRCm39) |
D226G |
probably damaging |
Het |
Polr1b |
T |
A |
2: 128,959,766 (GRCm39) |
|
probably null |
Het |
Ppp2r5a |
A |
G |
1: 191,104,806 (GRCm39) |
V80A |
probably benign |
Het |
Pramel17 |
T |
A |
4: 101,695,159 (GRCm39) |
I51L |
probably benign |
Het |
Psrc1 |
A |
G |
3: 108,293,759 (GRCm39) |
|
probably null |
Het |
Ralbp1 |
T |
C |
17: 66,174,593 (GRCm39) |
T60A |
probably benign |
Het |
Rasal2 |
A |
T |
1: 157,020,339 (GRCm39) |
S217T |
possibly damaging |
Het |
Rnase12 |
A |
G |
14: 51,294,395 (GRCm39) |
F95L |
probably damaging |
Het |
Rnf152 |
A |
T |
1: 105,211,957 (GRCm39) |
I200K |
probably damaging |
Het |
Rsf1 |
GGCGGCGGC |
GGCGGCGGCCGCGGCGGC |
7: 97,229,134 (GRCm39) |
|
probably benign |
Het |
Ryk |
C |
T |
9: 102,765,672 (GRCm39) |
T327I |
probably damaging |
Het |
Sell |
A |
T |
1: 163,892,903 (GRCm39) |
T40S |
probably benign |
Het |
Slc15a2 |
G |
A |
16: 36,595,964 (GRCm39) |
H153Y |
probably damaging |
Het |
Slit3 |
A |
G |
11: 35,591,139 (GRCm39) |
D1317G |
possibly damaging |
Het |
Slx4 |
G |
A |
16: 3,817,164 (GRCm39) |
T19M |
probably benign |
Het |
Spata31 |
C |
T |
13: 65,070,359 (GRCm39) |
R836* |
probably null |
Het |
Specc1l |
T |
C |
10: 75,080,921 (GRCm39) |
S106P |
probably benign |
Het |
Speer1a |
C |
A |
5: 11,394,884 (GRCm39) |
Q124K |
possibly damaging |
Het |
Stc2 |
T |
C |
11: 31,317,799 (GRCm39) |
N74S |
probably damaging |
Het |
Strn3 |
A |
T |
12: 51,674,543 (GRCm39) |
S498T |
probably damaging |
Het |
Sva |
C |
T |
6: 42,019,148 (GRCm39) |
T106I |
probably benign |
Het |
Tle3 |
T |
A |
9: 61,301,984 (GRCm39) |
L131Q |
possibly damaging |
Het |
Tmem135 |
T |
A |
7: 88,954,727 (GRCm39) |
R97W |
probably damaging |
Het |
Tmx4 |
A |
G |
2: 134,451,425 (GRCm39) |
L176S |
possibly damaging |
Het |
Tomm20l |
C |
A |
12: 71,164,171 (GRCm39) |
|
probably null |
Het |
Topors |
A |
T |
4: 40,262,173 (GRCm39) |
F370L |
possibly damaging |
Het |
Ulk4 |
T |
C |
9: 120,970,904 (GRCm39) |
T1023A |
probably benign |
Het |
Unc13a |
C |
T |
8: 72,094,153 (GRCm39) |
|
probably null |
Het |
Urb2 |
T |
C |
8: 124,756,491 (GRCm39) |
S733P |
probably benign |
Het |
Vwf |
A |
G |
6: 125,591,060 (GRCm39) |
D750G |
|
Het |
Xylt1 |
G |
A |
7: 117,192,812 (GRCm39) |
D373N |
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 |
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 |
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'- CAGGTTGAAGAGACACCGCTAG -3'
(R):5'- GTCTCTGTGCACACTCACAC -3'
Sequencing Primer
(F):5'- GTTGAAGAGACACCGCTAGACATC -3'
(R):5'- TCTCTGTGCACACTCACACCTAATAC -3'
|
Posted On |
2019-10-17 |