Incidental Mutation 'R3112:Fam135b'
| ID |
477876 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Fam135b
|
| Ensembl Gene |
ENSMUSG00000036800 |
| Gene Name |
family with sequence similarity 135, member B |
| Synonyms |
1700010C24Rik, A830008O07Rik |
| MMRRC Submission |
040585-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R3112 (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 C
at 71335879 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Methionine
at position 438
(I438M)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000022953
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000022953]
|
| AlphaFold |
Q9DAI6 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000022953
AA Change: I438M
PolyPhen 2
Score 0.047 (Sensitivity: 0.94; Specificity: 0.83)
|
| SMART Domains |
Protein: ENSMUSP00000022953
Gene: ENSMUSG00000036800
AA Change: I438M
| 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 |
0.1461 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.5%
- 10x: 97.2%
- 20x: 94.9%
|
| Validation Efficiency |
100% (38/38) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 74 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca6 |
T |
A |
11: 110,069,655 (GRCm39) |
K1554* |
probably null |
Het |
| Acads |
T |
C |
5: 115,255,757 (GRCm39) |
H26R |
probably benign |
Het |
| Acer1 |
G |
A |
17: 57,265,406 (GRCm39) |
T141I |
probably damaging |
Het |
| Adam15 |
C |
G |
3: 89,254,764 (GRCm39) |
V99L |
probably benign |
Het |
| Ankrd13b |
A |
G |
11: 77,368,331 (GRCm39) |
V97A |
possibly damaging |
Het |
| Anpep |
T |
C |
7: 79,491,720 (GRCm39) |
T94A |
probably benign |
Het |
| Atp1a3 |
T |
C |
7: 24,694,119 (GRCm39) |
N345S |
probably damaging |
Het |
| Btn1a1 |
T |
A |
13: 23,645,721 (GRCm39) |
N216I |
possibly damaging |
Het |
| Cacna1s |
G |
A |
1: 136,002,831 (GRCm39) |
W62* |
probably null |
Het |
| Ccdc141 |
C |
T |
2: 76,869,830 (GRCm39) |
V892I |
probably benign |
Het |
| Ccdc180 |
T |
A |
4: 45,900,470 (GRCm39) |
I278K |
possibly damaging |
Het |
| Cdc7 |
T |
G |
5: 107,122,564 (GRCm39) |
|
probably null |
Het |
| Cpb1 |
C |
T |
3: 20,319,521 (GRCm39) |
V188M |
probably damaging |
Het |
| Dock5 |
A |
G |
14: 68,095,371 (GRCm39) |
I101T |
possibly damaging |
Het |
| Dqx1 |
T |
C |
6: 83,035,953 (GRCm39) |
V95A |
probably damaging |
Het |
| Dvl1 |
T |
A |
4: 155,938,123 (GRCm39) |
D90E |
probably damaging |
Het |
| Fpr1 |
A |
T |
17: 18,096,897 (GRCm39) |
M364K |
probably benign |
Het |
| Gpat4 |
G |
A |
8: 23,670,171 (GRCm39) |
P286L |
probably damaging |
Het |
| Gpx7 |
C |
A |
4: 108,260,470 (GRCm39) |
V109F |
probably damaging |
Het |
| Grhl2 |
T |
C |
15: 37,336,591 (GRCm39) |
|
probably null |
Het |
| Grn |
A |
G |
11: 102,324,069 (GRCm39) |
T53A |
probably benign |
Het |
| H1f4 |
T |
C |
13: 23,805,829 (GRCm39) |
|
probably benign |
Het |
| H2-T9 |
T |
C |
17: 36,440,038 (GRCm39) |
Y32C |
probably damaging |
Het |
| Hmgxb3 |
T |
C |
18: 61,280,454 (GRCm39) |
N683S |
probably damaging |
Het |
| Iigp1 |
T |
C |
18: 60,523,983 (GRCm39) |
I367T |
probably benign |
Het |
| Itfg2 |
T |
C |
6: 128,388,632 (GRCm39) |
E285G |
probably damaging |
Het |
| Itgav |
T |
A |
2: 83,622,915 (GRCm39) |
C662* |
probably null |
Het |
| Jarid2 |
T |
A |
13: 45,059,752 (GRCm39) |
N661K |
probably damaging |
Het |
| Lipe |
T |
C |
7: 25,097,848 (GRCm39) |
T32A |
probably benign |
Het |
| Lrrk2 |
A |
G |
15: 91,698,898 (GRCm39) |
Y2475C |
probably benign |
Het |
| Mcc |
T |
C |
18: 44,582,330 (GRCm39) |
D607G |
probably damaging |
Het |
| Mip |
T |
A |
10: 128,061,875 (GRCm39) |
L42* |
probably null |
Het |
| Mlc1 |
A |
T |
15: 88,850,199 (GRCm39) |
D192E |
probably benign |
Het |
| Muc2 |
T |
C |
7: 141,299,225 (GRCm39) |
|
probably benign |
Het |
| Mybl1 |
T |
C |
1: 9,752,095 (GRCm39) |
D260G |
probably damaging |
Het |
| Ncln |
C |
T |
10: 81,323,519 (GRCm39) |
V51I |
probably benign |
Het |
| Nlrp9a |
T |
C |
7: 26,257,297 (GRCm39) |
V305A |
probably benign |
Het |
| Nodal |
G |
A |
10: 61,260,276 (GRCm39) |
R309Q |
possibly damaging |
Het |
| Olr1 |
T |
C |
6: 129,476,881 (GRCm39) |
N128S |
possibly damaging |
Het |
| Or10ak14 |
A |
T |
4: 118,611,421 (GRCm39) |
F105I |
probably damaging |
Het |
| Or12j5 |
A |
G |
7: 140,083,832 (GRCm39) |
I180T |
probably damaging |
Het |
| Or14a256 |
T |
C |
7: 86,264,884 (GRCm39) |
Y323C |
probably benign |
Het |
| Orc1 |
T |
A |
4: 108,461,757 (GRCm39) |
C585S |
probably benign |
Het |
| Pcmtd2 |
A |
T |
2: 181,496,922 (GRCm39) |
I300F |
probably damaging |
Het |
| Pfkfb4 |
C |
T |
9: 108,854,110 (GRCm39) |
|
probably benign |
Het |
| Phactr3 |
T |
A |
2: 177,920,810 (GRCm39) |
L180Q |
possibly damaging |
Het |
| Pigo |
T |
C |
4: 43,021,083 (GRCm39) |
T612A |
probably benign |
Het |
| Plch1 |
T |
A |
3: 63,616,952 (GRCm39) |
D766V |
probably damaging |
Het |
| Plekhh3 |
T |
C |
11: 101,054,973 (GRCm39) |
|
probably benign |
Het |
| Potefam1 |
T |
G |
2: 111,058,399 (GRCm39) |
L131F |
probably damaging |
Het |
| Ppp1r12b |
T |
A |
1: 134,800,570 (GRCm39) |
T547S |
probably damaging |
Het |
| Prkcb |
T |
A |
7: 122,116,079 (GRCm39) |
M186K |
probably damaging |
Het |
| Prpf3 |
A |
T |
3: 95,757,112 (GRCm39) |
|
probably benign |
Het |
| Psg23 |
T |
C |
7: 18,344,369 (GRCm39) |
D362G |
possibly damaging |
Het |
| Reg3a |
T |
C |
6: 78,358,114 (GRCm39) |
L15P |
probably damaging |
Het |
| Scrib |
A |
T |
15: 75,941,223 (GRCm39) |
I5N |
probably damaging |
Het |
| Speg |
C |
T |
1: 75,399,326 (GRCm39) |
Q2005* |
probably null |
Het |
| Sppl3 |
A |
T |
5: 115,212,923 (GRCm39) |
S51C |
possibly damaging |
Het |
| Sspo |
A |
G |
6: 48,434,534 (GRCm39) |
T1009A |
probably damaging |
Het |
| Syce1l |
A |
G |
8: 114,381,579 (GRCm39) |
Q164R |
probably benign |
Het |
| Sympk |
T |
C |
7: 18,768,409 (GRCm39) |
V126A |
possibly damaging |
Het |
| Tas2r110 |
T |
A |
6: 132,844,987 (GRCm39) |
I6K |
unknown |
Het |
| Tas2r120 |
A |
T |
6: 132,634,731 (GRCm39) |
H271L |
probably damaging |
Het |
| Tlcd3a |
A |
G |
11: 76,093,057 (GRCm39) |
D33G |
probably benign |
Het |
| Tnn |
T |
A |
1: 159,943,856 (GRCm39) |
T986S |
possibly damaging |
Het |
| Trim5 |
T |
C |
7: 103,928,845 (GRCm39) |
H32R |
probably damaging |
Het |
| Ttc13 |
A |
G |
8: 125,410,573 (GRCm39) |
I360T |
possibly damaging |
Het |
| Uaca |
A |
G |
9: 60,778,781 (GRCm39) |
E1054G |
probably damaging |
Het |
| Usp16 |
T |
A |
16: 87,268,736 (GRCm39) |
|
probably null |
Het |
| Wee1 |
T |
A |
7: 109,730,043 (GRCm39) |
S382R |
probably damaging |
Het |
| Wnt11 |
T |
C |
7: 98,495,771 (GRCm39) |
S92P |
probably damaging |
Het |
| Zfp1004 |
C |
G |
2: 150,034,141 (GRCm39) |
P185R |
probably damaging |
Het |
| Zfp786 |
A |
G |
6: 47,797,160 (GRCm39) |
C593R |
probably damaging |
Het |
| Zfp879 |
T |
G |
11: 50,723,989 (GRCm39) |
I283L |
possibly 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 |
|
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 |
|
| Posted On |
2017-05-15 |
Incidental Mutation