Incidental Mutation 'R1807:Fam135b'
ID |
203567 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Fam135b
|
Ensembl Gene |
ENSMUSG00000036800 |
Gene Name |
family with sequence similarity 135, member B |
Synonyms |
1700010C24Rik, A830008O07Rik |
MMRRC Submission |
039836-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R1807 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
15 |
Chromosomal Location |
71310800-71600282 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
G to A
at 71335761 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Arginine to Cysteine
at position 478
(R478C)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000022953
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000022953]
|
AlphaFold |
Q9DAI6 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000022953
AA Change: R478C
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
SMART Domains |
Protein: ENSMUSP00000022953 Gene: ENSMUSG00000036800 AA Change: R478C
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
|
Meta Mutation Damage Score |
0.0898 |
Coding Region Coverage |
- 1x: 97.4%
- 3x: 96.7%
- 10x: 94.7%
- 20x: 90.7%
|
Validation Efficiency |
97% (77/79) |
Allele List at MGI |
|
Other mutations in this stock |
Total: 71 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
2310061I04Rik |
C |
T |
17: 36,205,961 (GRCm39) |
W27* |
probably null |
Het |
4933430I17Rik |
T |
A |
4: 62,460,993 (GRCm39) |
Y289* |
probably null |
Het |
A3galt2 |
A |
G |
4: 128,661,394 (GRCm39) |
I348V |
probably benign |
Het |
Abca13 |
A |
G |
11: 9,241,755 (GRCm39) |
Y1206C |
probably damaging |
Het |
Adar |
T |
C |
3: 89,642,172 (GRCm39) |
S18P |
probably benign |
Het |
Akr1cl |
T |
C |
1: 65,061,106 (GRCm39) |
D139G |
possibly damaging |
Het |
Aldh1b1 |
A |
G |
4: 45,802,873 (GRCm39) |
Y137C |
possibly damaging |
Het |
Arsa |
T |
C |
15: 89,359,525 (GRCm39) |
M86V |
possibly damaging |
Het |
Atg9b |
C |
A |
5: 24,592,055 (GRCm39) |
R648L |
probably damaging |
Het |
Atrn |
A |
G |
2: 130,824,692 (GRCm39) |
N1042S |
possibly damaging |
Het |
Ccdc6 |
T |
A |
10: 70,010,989 (GRCm39) |
D325E |
possibly damaging |
Het |
Cdk12 |
T |
C |
11: 98,101,203 (GRCm39) |
S354P |
unknown |
Het |
Chst3 |
T |
A |
10: 60,022,130 (GRCm39) |
Y239F |
probably benign |
Het |
Cilp2 |
C |
A |
8: 70,334,844 (GRCm39) |
R718L |
probably damaging |
Het |
Col27a1 |
A |
G |
4: 63,249,586 (GRCm39) |
|
probably benign |
Het |
Ctbp2 |
T |
C |
7: 132,616,137 (GRCm39) |
N266S |
probably benign |
Het |
Ctnnd2 |
T |
C |
15: 30,620,017 (GRCm39) |
V123A |
probably damaging |
Het |
Cyria |
G |
A |
12: 12,411,505 (GRCm39) |
R123Q |
probably benign |
Het |
D7Ertd443e |
T |
A |
7: 133,895,034 (GRCm39) |
E552V |
probably null |
Het |
Dcst1 |
T |
A |
3: 89,260,848 (GRCm39) |
H516L |
probably damaging |
Het |
Depp1 |
G |
A |
6: 116,628,683 (GRCm39) |
V9M |
possibly damaging |
Het |
Drd2 |
C |
T |
9: 49,316,367 (GRCm39) |
L376F |
probably damaging |
Het |
Edn1 |
A |
G |
13: 42,460,270 (GRCm39) |
N175S |
probably damaging |
Het |
Eipr1 |
G |
T |
12: 28,816,838 (GRCm39) |
G65V |
probably damaging |
Het |
Epha4 |
G |
A |
1: 77,351,541 (GRCm39) |
P905S |
probably benign |
Het |
Erbb2 |
T |
C |
11: 98,319,680 (GRCm39) |
Y591H |
probably damaging |
Het |
Fat2 |
T |
C |
11: 55,180,085 (GRCm39) |
T1419A |
probably damaging |
Het |
Flnb |
C |
T |
14: 7,934,645 (GRCm38) |
T2239I |
probably benign |
Het |
Gm7713 |
T |
C |
15: 59,866,320 (GRCm39) |
|
noncoding transcript |
Het |
Hsf5 |
C |
T |
11: 87,548,168 (GRCm39) |
P617L |
probably benign |
Het |
Kcnk12 |
C |
A |
17: 88,053,468 (GRCm39) |
R398L |
probably benign |
Het |
Kif21b |
T |
A |
1: 136,075,531 (GRCm39) |
N219K |
possibly damaging |
Het |
Kirrel1 |
C |
T |
3: 86,996,458 (GRCm39) |
M380I |
probably null |
Het |
Klra5 |
A |
T |
6: 129,876,383 (GRCm39) |
F141L |
probably benign |
Het |
Lmtk3 |
C |
T |
7: 45,442,702 (GRCm39) |
P462S |
probably benign |
Het |
Mast2 |
A |
G |
4: 116,167,938 (GRCm39) |
|
probably benign |
Het |
Me1 |
T |
A |
9: 86,532,932 (GRCm39) |
T197S |
probably damaging |
Het |
Msr1 |
T |
A |
8: 40,072,948 (GRCm39) |
Q267L |
probably benign |
Het |
Nfic |
T |
C |
10: 81,240,819 (GRCm39) |
T328A |
probably benign |
Het |
Nphp3 |
G |
A |
9: 103,897,940 (GRCm39) |
D390N |
probably benign |
Het |
Nr2e1 |
T |
A |
10: 42,458,905 (GRCm39) |
|
probably null |
Het |
Nt5el |
A |
T |
13: 105,218,744 (GRCm39) |
Q26L |
probably benign |
Het |
Or52e19b |
T |
A |
7: 103,032,790 (GRCm39) |
N140Y |
probably benign |
Het |
Or5t9 |
T |
A |
2: 86,659,445 (GRCm39) |
F116L |
probably benign |
Het |
Pard6b |
T |
C |
2: 167,929,332 (GRCm39) |
L46P |
probably damaging |
Het |
Prkaa1 |
T |
A |
15: 5,173,436 (GRCm39) |
L20Q |
probably damaging |
Het |
Rapgefl1 |
T |
C |
11: 98,736,815 (GRCm39) |
|
probably null |
Het |
Recql5 |
T |
C |
11: 115,785,941 (GRCm39) |
K611E |
possibly damaging |
Het |
Rexo1 |
A |
T |
10: 80,378,413 (GRCm39) |
I1180N |
possibly damaging |
Het |
Rnf26rt |
A |
G |
6: 76,474,397 (GRCm39) |
V73A |
probably benign |
Het |
Rph3a |
T |
C |
5: 121,083,456 (GRCm39) |
N605D |
probably damaging |
Het |
Sema6a |
A |
G |
18: 47,409,491 (GRCm39) |
V592A |
possibly damaging |
Het |
Skint11 |
A |
T |
4: 114,051,893 (GRCm39) |
R80S |
probably benign |
Het |
Smpdl3a |
C |
A |
10: 57,677,118 (GRCm39) |
P72H |
probably damaging |
Het |
Sobp |
T |
G |
10: 43,036,822 (GRCm39) |
M39L |
possibly damaging |
Het |
Sparcl1 |
T |
A |
5: 104,233,627 (GRCm39) |
Y574F |
probably damaging |
Het |
Spns3 |
C |
T |
11: 72,429,166 (GRCm39) |
W206* |
probably null |
Het |
Srf |
A |
G |
17: 46,864,685 (GRCm39) |
V190A |
possibly damaging |
Het |
Stag1 |
T |
G |
9: 100,790,719 (GRCm39) |
H742Q |
probably benign |
Het |
Strn3 |
A |
T |
12: 51,673,986 (GRCm39) |
S542T |
probably benign |
Het |
Synpo2 |
T |
C |
3: 122,873,906 (GRCm39) |
E1020G |
possibly damaging |
Het |
Tcerg1l |
T |
A |
7: 137,996,826 (GRCm39) |
H137L |
probably benign |
Het |
Tlr12 |
A |
T |
4: 128,511,229 (GRCm39) |
D340E |
probably benign |
Het |
Tmem130 |
T |
A |
5: 144,692,174 (GRCm39) |
T77S |
probably benign |
Het |
Tmem143 |
C |
A |
7: 45,547,037 (GRCm39) |
R68S |
probably damaging |
Het |
Tnrc6a |
CTGTTTTGTTTTGTTTTGTTTTGTTTTGTTTTGTTTTGTT |
CTGTTTTGTTTTGTTTTGTTTTGTTTTGTTTTGTTTTGTTTTGTT |
7: 122,761,669 (GRCm39) |
|
probably benign |
Het |
Trem1 |
G |
T |
17: 48,548,663 (GRCm39) |
G67* |
probably null |
Het |
Tsc1 |
A |
G |
2: 28,576,125 (GRCm39) |
D978G |
probably benign |
Het |
Txndc9 |
A |
T |
1: 38,033,096 (GRCm39) |
H95Q |
probably damaging |
Het |
Yju2b |
C |
T |
8: 84,986,936 (GRCm39) |
R187Q |
probably damaging |
Het |
Zfp35 |
T |
A |
18: 24,136,986 (GRCm39) |
N443K |
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 |
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 |
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'- TCAATATAGGTCAGTGCTGGGG -3'
(R):5'- AGGGCATAACTTGAGTGTTTATCC -3'
Sequencing Primer
(F):5'- GGCCTGGACTTCTGCTACATATG -3'
(R):5'- ATCCTAATTTTGATGTCCCAGTGAC -3'
|
Posted On |
2014-06-23 |