Incidental Mutation 'R1998:Fam135b'
ID |
224633 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Fam135b
|
Ensembl Gene |
ENSMUSG00000036800 |
Gene Name |
family with sequence similarity 135, member B |
Synonyms |
1700010C24Rik, A830008O07Rik |
MMRRC Submission |
040008-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R1998 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
15 |
Chromosomal Location |
71310800-71600282 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to A
at 71324253 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Histidine to Leucine
at position 1238
(H1238L)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000022953
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000022953]
|
AlphaFold |
Q9DAI6 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000022953
AA Change: H1238L
PolyPhen 2
Score 0.978 (Sensitivity: 0.76; Specificity: 0.96)
|
SMART Domains |
Protein: ENSMUSP00000022953 Gene: ENSMUSG00000036800 AA Change: H1238L
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 |
noncoding transcript
Transcript: ENSMUST00000229634
|
Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.5%
- 10x: 96.9%
- 20x: 94.2%
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 86 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
2310003L06Rik |
T |
G |
5: 88,118,553 (GRCm39) |
N12K |
probably damaging |
Het |
2700049A03Rik |
T |
A |
12: 71,235,393 (GRCm39) |
S1114R |
possibly damaging |
Het |
Acot1 |
T |
A |
12: 84,056,527 (GRCm39) |
W82R |
probably damaging |
Het |
Adam22 |
T |
C |
5: 8,379,995 (GRCm39) |
D101G |
probably damaging |
Het |
Adcy9 |
T |
C |
16: 4,115,276 (GRCm39) |
D705G |
probably benign |
Het |
Adgrg3 |
T |
G |
8: 95,763,296 (GRCm39) |
L244V |
probably damaging |
Het |
Amh |
AGCGCCTTGG |
AG |
10: 80,641,419 (GRCm39) |
|
probably null |
Het |
Brinp1 |
C |
T |
4: 68,680,790 (GRCm39) |
G580E |
probably damaging |
Het |
Brwd1 |
G |
A |
16: 95,822,488 (GRCm39) |
T1239M |
probably damaging |
Het |
Camk1d |
A |
T |
2: 5,366,836 (GRCm39) |
Y126* |
probably null |
Het |
Camta1 |
T |
C |
4: 151,162,337 (GRCm39) |
Y1560C |
probably damaging |
Het |
Cbfa2t2 |
T |
A |
2: 154,346,709 (GRCm39) |
L139M |
probably damaging |
Het |
Cd226 |
T |
C |
18: 89,225,343 (GRCm39) |
V80A |
probably damaging |
Het |
Dgka |
C |
T |
10: 128,565,808 (GRCm39) |
V367I |
probably benign |
Het |
Dnajb13 |
A |
T |
7: 100,153,817 (GRCm39) |
I206N |
probably benign |
Het |
Dst |
A |
T |
1: 34,295,428 (GRCm39) |
Q5693L |
probably damaging |
Het |
Ear6 |
T |
A |
14: 52,091,672 (GRCm39) |
I73N |
probably benign |
Het |
Egr1 |
A |
G |
18: 34,994,587 (GRCm39) |
I16V |
probably benign |
Het |
Eif2s1 |
T |
A |
12: 78,913,508 (GRCm39) |
C70S |
possibly damaging |
Het |
Epcam |
T |
C |
17: 87,947,902 (GRCm39) |
V124A |
probably damaging |
Het |
Erbb2 |
T |
A |
11: 98,319,779 (GRCm39) |
C624S |
probably damaging |
Het |
Fam90a1a |
A |
G |
8: 22,453,713 (GRCm39) |
D356G |
probably benign |
Het |
Fbrsl1 |
G |
A |
5: 110,524,305 (GRCm39) |
S127L |
probably benign |
Het |
Fndc3c1 |
C |
T |
X: 105,464,311 (GRCm39) |
E1276K |
probably benign |
Het |
Gbe1 |
A |
T |
16: 70,365,929 (GRCm39) |
N702I |
probably damaging |
Het |
Gm10643 |
A |
T |
8: 84,791,053 (GRCm39) |
C20* |
probably null |
Het |
Gpr156 |
A |
G |
16: 37,818,270 (GRCm39) |
N322S |
possibly damaging |
Het |
Gsdma |
T |
A |
11: 98,564,520 (GRCm39) |
I333N |
probably damaging |
Het |
Gstm1 |
A |
G |
3: 107,922,127 (GRCm39) |
F170S |
probably damaging |
Het |
Hgsnat |
C |
T |
8: 26,435,280 (GRCm39) |
W618* |
probably null |
Het |
Htr5a |
G |
A |
5: 28,055,887 (GRCm39) |
V293M |
possibly damaging |
Het |
Hyal4 |
A |
G |
6: 24,756,310 (GRCm39) |
E176G |
probably benign |
Het |
Iqca1l |
G |
A |
5: 24,750,004 (GRCm39) |
R680C |
probably benign |
Het |
Jag1 |
T |
C |
2: 136,932,858 (GRCm39) |
D546G |
probably damaging |
Het |
Kbtbd3 |
A |
G |
9: 4,330,760 (GRCm39) |
E378G |
probably benign |
Het |
Lipo4 |
A |
G |
19: 33,491,701 (GRCm39) |
V94A |
probably damaging |
Het |
Magea10 |
A |
T |
X: 71,426,379 (GRCm39) |
I205K |
probably benign |
Het |
Manea |
A |
G |
4: 26,327,871 (GRCm39) |
L390P |
probably damaging |
Het |
Mars1 |
T |
A |
10: 127,136,347 (GRCm39) |
K493* |
probably null |
Het |
Mars1 |
T |
C |
10: 127,138,740 (GRCm39) |
I439V |
probably benign |
Het |
Mboat2 |
A |
G |
12: 24,996,672 (GRCm39) |
D225G |
possibly damaging |
Het |
Mcmbp |
T |
A |
7: 128,310,887 (GRCm39) |
E350V |
probably damaging |
Het |
Mki67 |
A |
G |
7: 135,307,499 (GRCm39) |
M459T |
probably benign |
Het |
Mlf1 |
G |
A |
3: 67,302,624 (GRCm39) |
G150R |
probably damaging |
Het |
Mtmr14 |
A |
G |
6: 113,254,885 (GRCm39) |
D294G |
probably null |
Het |
Nlrp4e |
A |
C |
7: 23,020,671 (GRCm39) |
Y386S |
probably benign |
Het |
Nomo1 |
A |
G |
7: 45,683,368 (GRCm39) |
D38G |
possibly damaging |
Het |
Nudcd2 |
T |
C |
11: 40,624,844 (GRCm39) |
W18R |
probably damaging |
Het |
Or11g26 |
T |
A |
14: 50,752,813 (GRCm39) |
C51S |
probably benign |
Het |
Or3a1b |
A |
G |
11: 74,012,406 (GRCm39) |
Y97C |
probably benign |
Het |
Or52e4 |
G |
T |
7: 104,706,112 (GRCm39) |
V220L |
probably benign |
Het |
Or5d16 |
G |
A |
2: 87,773,490 (GRCm39) |
L161F |
probably benign |
Het |
Or5w16 |
T |
C |
2: 87,577,316 (GRCm39) |
Y259H |
probably damaging |
Het |
Pcnx2 |
A |
T |
8: 126,613,882 (GRCm39) |
V523D |
probably damaging |
Het |
Pkd1 |
T |
C |
17: 24,791,988 (GRCm39) |
V1225A |
probably damaging |
Het |
Plekhh2 |
T |
A |
17: 84,914,305 (GRCm39) |
L1236Q |
possibly damaging |
Het |
Ppp2r1b |
A |
G |
9: 50,794,885 (GRCm39) |
D570G |
probably damaging |
Het |
Prrc2c |
T |
A |
1: 162,532,487 (GRCm39) |
|
probably benign |
Het |
Rai14 |
C |
T |
15: 10,595,067 (GRCm39) |
|
probably null |
Het |
Rap1gap2 |
A |
G |
11: 74,286,659 (GRCm39) |
L547P |
probably benign |
Het |
Rims3 |
A |
T |
4: 120,748,555 (GRCm39) |
M259L |
probably benign |
Het |
Rsbn1l |
G |
A |
5: 21,107,368 (GRCm39) |
H549Y |
probably damaging |
Het |
Sart3 |
A |
C |
5: 113,885,982 (GRCm39) |
|
probably null |
Het |
Scn7a |
C |
A |
2: 66,513,613 (GRCm39) |
G1156C |
probably damaging |
Het |
Sh3rf2 |
T |
A |
18: 42,274,148 (GRCm39) |
V406D |
probably damaging |
Het |
Slitrk6 |
T |
C |
14: 110,989,255 (GRCm39) |
I151V |
probably damaging |
Het |
Smarca2 |
A |
T |
19: 26,608,493 (GRCm39) |
Q260L |
probably benign |
Het |
Smco1 |
A |
G |
16: 32,092,658 (GRCm39) |
R110G |
probably damaging |
Het |
Spef2 |
T |
A |
15: 9,668,989 (GRCm39) |
|
probably null |
Het |
Stab1 |
T |
A |
14: 30,884,110 (GRCm39) |
K219* |
probably null |
Het |
Sulf1 |
G |
T |
1: 12,929,058 (GRCm39) |
E869* |
probably null |
Het |
Susd1 |
T |
C |
4: 59,349,925 (GRCm39) |
I504V |
probably benign |
Het |
Szt2 |
A |
G |
4: 118,232,924 (GRCm39) |
|
probably null |
Het |
Tas1r3 |
A |
T |
4: 155,947,377 (GRCm39) |
C103S |
probably damaging |
Het |
Thg1l |
C |
A |
11: 45,841,030 (GRCm39) |
W243L |
possibly damaging |
Het |
Tlr4 |
A |
T |
4: 66,758,707 (GRCm39) |
D500V |
probably damaging |
Het |
Tmem72 |
A |
G |
6: 116,693,525 (GRCm39) |
V5A |
probably benign |
Het |
Tns4 |
T |
G |
11: 98,976,529 (GRCm39) |
M131L |
probably benign |
Het |
Trim66 |
C |
T |
7: 109,083,784 (GRCm39) |
|
probably null |
Het |
Ttll6 |
T |
A |
11: 96,030,601 (GRCm39) |
|
probably null |
Het |
Ttn |
A |
T |
2: 76,800,047 (GRCm39) |
I387N |
probably damaging |
Het |
Ubqln5 |
T |
A |
7: 103,777,948 (GRCm39) |
Q292L |
probably damaging |
Het |
Vmn1r74 |
G |
T |
7: 11,581,302 (GRCm39) |
V201F |
probably damaging |
Het |
Vmn2r28 |
G |
T |
7: 5,491,313 (GRCm39) |
D311E |
possibly damaging |
Het |
Vtn |
T |
A |
11: 78,390,542 (GRCm39) |
V67E |
probably damaging |
Het |
Xirp2 |
T |
A |
2: 67,339,393 (GRCm39) |
F545I |
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 |
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'- CCAACTTTCATCCATTTGTGAGAG -3'
(R):5'- TCATGTATTGTGCTAGGGCC -3'
Sequencing Primer
(F):5'- GAGGGTGTAGAAGACTTACC -3'
(R):5'- GTGGACAGTGCTAAGACCTTG -3'
|
Posted On |
2014-08-25 |