Incidental Mutation 'R1905:Fam135b'
ID |
214326 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Fam135b
|
Ensembl Gene |
ENSMUSG00000036800 |
Gene Name |
family with sequence similarity 135, member B |
Synonyms |
1700010C24Rik, A830008O07Rik |
MMRRC Submission |
039924-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R1905 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
15 |
Chromosomal Location |
71310800-71600282 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
C to T
at 71404836 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Arginine to Histidine
at position 70
(R70H)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000155239
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000022953]
[ENSMUST00000229189]
|
AlphaFold |
Q9DAI6 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000022953
AA Change: R70H
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000022953 Gene: ENSMUSG00000036800 AA Change: R70H
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 damaging
Transcript: ENSMUST00000229189
AA Change: R70H
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000230569
|
Meta Mutation Damage Score |
0.6467 |
Coding Region Coverage |
- 1x: 97.5%
- 3x: 97.0%
- 10x: 95.5%
- 20x: 93.1%
|
Validation Efficiency |
99% (90/91) |
Allele List at MGI |
|
Other mutations in this stock |
Total: 89 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
4833420G17Rik |
G |
T |
13: 119,606,216 (GRCm39) |
V153L |
possibly damaging |
Het |
Adamts17 |
T |
A |
7: 66,697,220 (GRCm39) |
C631* |
probably null |
Het |
Adamts19 |
A |
G |
18: 59,166,017 (GRCm39) |
R1070G |
possibly damaging |
Het |
Aldh1a1 |
A |
G |
19: 20,595,362 (GRCm39) |
E97G |
probably damaging |
Het |
Bola2 |
T |
A |
7: 126,295,410 (GRCm39) |
V40E |
probably damaging |
Het |
Ccar1 |
A |
G |
10: 62,612,437 (GRCm39) |
S243P |
possibly damaging |
Het |
Cd80 |
A |
T |
16: 38,294,539 (GRCm39) |
I141F |
probably damaging |
Het |
Ceacam23 |
T |
A |
7: 17,607,477 (GRCm39) |
|
noncoding transcript |
Het |
Chn2 |
T |
C |
6: 54,263,106 (GRCm39) |
C92R |
probably damaging |
Het |
Ciao2a |
A |
G |
9: 66,039,929 (GRCm39) |
K82R |
probably benign |
Het |
Clk1 |
A |
T |
1: 58,461,101 (GRCm39) |
|
probably benign |
Het |
Clock |
T |
C |
5: 76,414,735 (GRCm39) |
|
probably benign |
Het |
Cntnap3 |
A |
G |
13: 65,051,578 (GRCm39) |
V26A |
probably benign |
Het |
Csf3r |
A |
T |
4: 125,936,538 (GRCm39) |
K651N |
probably benign |
Het |
Cul4a |
T |
C |
8: 13,183,171 (GRCm39) |
M322T |
probably benign |
Het |
Cx3cl1 |
A |
G |
8: 95,506,687 (GRCm39) |
T231A |
probably benign |
Het |
Cyp2c68 |
A |
T |
19: 39,724,026 (GRCm39) |
C213S |
probably benign |
Het |
Dhx16 |
T |
G |
17: 36,199,247 (GRCm39) |
S814A |
probably benign |
Het |
Dnah1 |
T |
C |
14: 30,986,587 (GRCm39) |
I3659V |
probably benign |
Het |
Dock6 |
A |
T |
9: 21,740,870 (GRCm39) |
V906D |
probably benign |
Het |
Ep400 |
G |
A |
5: 110,818,814 (GRCm39) |
T2738I |
probably damaging |
Het |
Erbb4 |
A |
T |
1: 68,114,569 (GRCm39) |
|
probably benign |
Het |
Fam13a |
T |
C |
6: 58,930,475 (GRCm39) |
Q479R |
probably damaging |
Het |
Fcgr4 |
A |
T |
1: 170,856,874 (GRCm39) |
Q247L |
probably damaging |
Het |
Flnc |
T |
A |
6: 29,459,459 (GRCm39) |
C2520S |
probably damaging |
Het |
Foxn1 |
A |
G |
11: 78,262,636 (GRCm39) |
|
probably null |
Het |
Fsip2 |
C |
T |
2: 82,813,772 (GRCm39) |
P3364S |
possibly damaging |
Het |
Fzd8 |
C |
T |
18: 9,213,803 (GRCm39) |
T295I |
probably damaging |
Het |
Gm4744 |
G |
A |
6: 40,928,736 (GRCm39) |
|
probably benign |
Het |
Gm4871 |
G |
T |
5: 144,966,859 (GRCm39) |
A208D |
probably damaging |
Het |
Gm527 |
A |
G |
12: 64,967,797 (GRCm39) |
N73S |
possibly damaging |
Het |
Gm5414 |
T |
C |
15: 101,533,075 (GRCm39) |
I451V |
probably damaging |
Het |
Golm1 |
A |
T |
13: 59,790,065 (GRCm39) |
V245E |
probably benign |
Het |
Grik1 |
A |
T |
16: 87,693,754 (GRCm39) |
Y879* |
probably null |
Het |
Grn |
C |
A |
11: 102,327,276 (GRCm39) |
P241Q |
probably damaging |
Het |
H2-T7 |
T |
C |
17: 36,453,833 (GRCm39) |
|
noncoding transcript |
Het |
Hjurp |
T |
C |
1: 88,194,338 (GRCm39) |
E190G |
probably benign |
Het |
Hmcn1 |
A |
C |
1: 150,868,606 (GRCm39) |
I66S |
probably damaging |
Het |
Hykk |
T |
A |
9: 54,853,667 (GRCm39) |
Y330N |
probably benign |
Het |
Khdc1c |
A |
G |
1: 21,439,281 (GRCm39) |
N89S |
probably benign |
Het |
Lcor |
A |
G |
19: 41,572,013 (GRCm39) |
D256G |
possibly damaging |
Het |
Lrrc72 |
T |
A |
12: 36,258,661 (GRCm39) |
|
probably null |
Het |
Lyst |
T |
G |
13: 13,808,719 (GRCm39) |
S130A |
probably benign |
Het |
Mast1 |
G |
A |
8: 85,642,895 (GRCm39) |
R967C |
probably damaging |
Het |
Mfng |
T |
C |
15: 78,657,286 (GRCm39) |
T63A |
probably damaging |
Het |
Mre11a |
G |
A |
9: 14,710,923 (GRCm39) |
D206N |
probably benign |
Het |
Myh10 |
A |
G |
11: 68,662,694 (GRCm39) |
|
probably benign |
Het |
Myt1 |
A |
G |
2: 181,439,549 (GRCm39) |
D357G |
probably damaging |
Het |
Nacad |
T |
A |
11: 6,552,540 (GRCm39) |
H217L |
probably benign |
Het |
Ncoa1 |
A |
G |
12: 4,345,433 (GRCm39) |
V638A |
probably damaging |
Het |
Nlrp3 |
T |
G |
11: 59,439,862 (GRCm39) |
F480V |
probably damaging |
Het |
Nos1ap |
A |
G |
1: 170,146,127 (GRCm39) |
W476R |
possibly damaging |
Het |
Nr1h4 |
T |
A |
10: 89,316,421 (GRCm39) |
T220S |
possibly damaging |
Het |
Ntf5 |
G |
T |
7: 45,065,176 (GRCm39) |
V103L |
probably damaging |
Het |
Ntm |
C |
A |
9: 29,090,393 (GRCm39) |
D109Y |
probably damaging |
Het |
Or7e178 |
C |
T |
9: 20,226,142 (GRCm39) |
E17K |
probably benign |
Het |
P2rx7 |
G |
A |
5: 122,819,015 (GRCm39) |
C479Y |
probably damaging |
Het |
Pappa2 |
T |
A |
1: 158,631,073 (GRCm39) |
|
probably null |
Het |
Pgap1 |
A |
C |
1: 54,551,120 (GRCm39) |
I520R |
probably benign |
Het |
Pikfyve |
G |
A |
1: 65,231,454 (GRCm39) |
|
probably null |
Het |
Plekhg3 |
T |
C |
12: 76,622,991 (GRCm39) |
S744P |
probably benign |
Het |
Pramel6 |
A |
G |
2: 87,339,526 (GRCm39) |
R97G |
probably damaging |
Het |
Pramel6 |
G |
T |
2: 87,339,527 (GRCm39) |
R97M |
probably damaging |
Het |
Psme4 |
T |
C |
11: 30,760,922 (GRCm39) |
V397A |
probably damaging |
Het |
Ptk2b |
T |
C |
14: 66,396,119 (GRCm39) |
D783G |
probably damaging |
Het |
Ptma-ps1 |
T |
A |
7: 23,763,306 (GRCm39) |
L17* |
probably null |
Het |
Ralgapa2 |
C |
A |
2: 146,229,621 (GRCm39) |
R1053L |
probably damaging |
Het |
Sap130 |
C |
T |
18: 31,813,620 (GRCm39) |
P559L |
possibly damaging |
Het |
Sap30 |
T |
C |
8: 57,940,345 (GRCm39) |
S86G |
probably damaging |
Het |
Sdk2 |
C |
T |
11: 113,729,472 (GRCm39) |
|
silent |
Het |
Sema3f |
G |
T |
9: 107,561,575 (GRCm39) |
Q500K |
probably damaging |
Het |
Serpinb3d |
T |
C |
1: 107,007,014 (GRCm39) |
I231M |
possibly damaging |
Het |
Sf3a1 |
T |
A |
11: 4,126,678 (GRCm39) |
N563K |
probably benign |
Het |
Sipa1l3 |
A |
G |
7: 29,038,592 (GRCm39) |
S352P |
possibly damaging |
Het |
Slc6a12 |
G |
T |
6: 121,324,402 (GRCm39) |
E9* |
probably null |
Het |
Srebf1 |
T |
C |
11: 60,095,319 (GRCm39) |
D400G |
probably damaging |
Het |
Swsap1 |
T |
C |
9: 21,867,988 (GRCm39) |
Y87H |
probably damaging |
Het |
Tanc2 |
G |
A |
11: 105,813,689 (GRCm39) |
G1711D |
possibly damaging |
Het |
Tas2r107 |
T |
C |
6: 131,636,951 (GRCm39) |
M33V |
probably benign |
Het |
Tdrd9 |
T |
A |
12: 112,030,061 (GRCm39) |
|
probably benign |
Het |
Tdrp |
T |
C |
8: 14,004,079 (GRCm39) |
D86G |
probably damaging |
Het |
Tmem92 |
A |
T |
11: 94,669,501 (GRCm39) |
M106K |
probably benign |
Het |
Tmf1 |
A |
T |
6: 97,138,440 (GRCm39) |
C764S |
possibly damaging |
Het |
Ttc21a |
G |
T |
9: 119,795,823 (GRCm39) |
R1219L |
possibly damaging |
Het |
Ttn |
C |
T |
2: 76,593,792 (GRCm39) |
G18870D |
probably damaging |
Het |
Tubgcp6 |
T |
C |
15: 88,984,811 (GRCm39) |
Y1732C |
probably damaging |
Het |
Vmn1r28 |
A |
G |
6: 58,242,912 (GRCm39) |
T252A |
probably benign |
Het |
Xirp2 |
A |
G |
2: 67,346,700 (GRCm39) |
I2980M |
probably damaging |
Het |
Zc2hc1c |
A |
G |
12: 85,337,288 (GRCm39) |
D315G |
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 |
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'- TCACCTGGGGTCCAACAATG -3'
(R):5'- TCATGGGGCTTTTAAGTACTGATCAAC -3'
Sequencing Primer
(F):5'- CCTGGGGTCCAACAATGAGAGG -3'
(R):5'- ACACAGATGTTCTCATGATGCGG -3'
|
Posted On |
2014-07-14 |