Incidental Mutation 'T0722:Fam135b'
ID |
262129 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Fam135b
|
Ensembl Gene |
ENSMUSG00000036800 |
Gene Name |
family with sequence similarity 135, member B |
Synonyms |
1700010C24Rik, A830008O07Rik |
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
T0722 (G3)
of strain
711
|
Quality Score |
172 |
Status
|
Not validated
|
Chromosome |
15 |
Chromosomal Location |
71310800-71600282 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to G
at 71335734 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Threonine to Proline
at position 487
(T487P)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000022953
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000022953]
|
AlphaFold |
Q9DAI6 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000022953
AA Change: T487P
PolyPhen 2
Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)
|
SMART Domains |
Protein: ENSMUSP00000022953 Gene: ENSMUSG00000036800 AA Change: T487P
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: 99.5%
- 3x: 98.9%
- 10x: 97.6%
- 20x: 95.5%
|
Validation Efficiency |
95% (42/44) |
Allele List at MGI |
|
Other mutations in this stock |
Total: 72 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Adam6b |
A |
G |
12: 113,453,197 (GRCm39) |
T5A |
possibly damaging |
Het |
Adam6b |
T |
A |
12: 113,454,888 (GRCm39) |
D568E |
probably benign |
Het |
Ago3 |
C |
T |
4: 126,298,056 (GRCm39) |
V155I |
probably benign |
Het |
Ago3 |
G |
A |
4: 126,298,103 (GRCm39) |
A139V |
probably benign |
Het |
Ago3 |
C |
T |
4: 126,298,098 (GRCm39) |
A141T |
probably benign |
Het |
Ago3 |
T |
G |
4: 126,298,089 (GRCm39) |
T144P |
probably benign |
Het |
Ahdc1 |
ACCTCCT |
ACCTCCTCCT |
4: 132,790,065 (GRCm39) |
|
probably benign |
Het |
Atp6v1g3 |
T |
A |
1: 138,201,591 (GRCm39) |
|
probably benign |
Het |
Azin2 |
A |
G |
4: 128,839,927 (GRCm39) |
Y222H |
probably benign |
Het |
Bicd2 |
C |
A |
13: 49,533,127 (GRCm39) |
P571Q |
probably benign |
Het |
Camta2 |
A |
G |
11: 70,574,831 (GRCm39) |
I75T |
probably damaging |
Het |
Casp1 |
A |
T |
9: 5,299,851 (GRCm39) |
H108L |
probably benign |
Het |
Cdk5r1 |
G |
T |
11: 80,368,707 (GRCm39) |
V125F |
probably benign |
Het |
Cherp |
TTGGACCTGGACCTGGACCTGGACCTGGA |
TTGGACCTGGACCTGGACCTGGA |
8: 73,215,878 (GRCm39) |
|
probably benign |
Het |
Cngb1 |
A |
G |
8: 96,023,278 (GRCm39) |
M240T |
probably benign |
Het |
Cngb1 |
G |
A |
8: 96,030,342 (GRCm39) |
|
probably benign |
Het |
Cngb1 |
T |
C |
8: 96,030,324 (GRCm39) |
|
probably benign |
Het |
Cngb1 |
G |
T |
8: 96,024,447 (GRCm39) |
Q205K |
probably damaging |
Het |
Cog8 |
G |
T |
8: 107,775,625 (GRCm39) |
L580I |
probably benign |
Het |
Copa |
A |
G |
1: 171,939,515 (GRCm39) |
E593G |
possibly damaging |
Het |
Ctrc |
T |
TA |
4: 141,572,507 (GRCm39) |
|
probably null |
Het |
Cwf19l2 |
T |
C |
9: 3,456,755 (GRCm39) |
F696S |
probably benign |
Het |
Ddi2 |
G |
A |
4: 141,440,784 (GRCm39) |
|
probably benign |
Het |
Eml5 |
T |
C |
12: 98,807,841 (GRCm39) |
D984G |
probably null |
Het |
Fstl3 |
A |
G |
10: 79,615,997 (GRCm39) |
Y161C |
probably damaging |
Het |
Gja4 |
G |
C |
4: 127,206,024 (GRCm39) |
H246Q |
probably benign |
Het |
Gm8186 |
C |
T |
17: 26,318,101 (GRCm39) |
R32Q |
probably benign |
Het |
Jakmip1 |
C |
A |
5: 37,276,247 (GRCm39) |
A519D |
probably damaging |
Het |
Jcad |
G |
T |
18: 4,675,531 (GRCm39) |
A1098S |
probably benign |
Het |
Klhl14 |
T |
C |
18: 21,691,192 (GRCm39) |
Y446C |
probably damaging |
Het |
Lims1 |
A |
G |
10: 58,254,277 (GRCm39) |
N344D |
probably benign |
Het |
Marco |
A |
T |
1: 120,402,441 (GRCm39) |
W502R |
probably damaging |
Het |
Mmp13 |
G |
T |
9: 7,280,857 (GRCm39) |
M413I |
possibly damaging |
Het |
Mmp25 |
G |
A |
17: 23,850,192 (GRCm39) |
A456V |
possibly damaging |
Het |
Msi2 |
A |
T |
11: 88,285,423 (GRCm39) |
M207K |
probably damaging |
Het |
Myh8 |
G |
A |
11: 67,195,262 (GRCm39) |
R1692Q |
probably benign |
Het |
Nbas |
A |
G |
12: 13,402,809 (GRCm39) |
I788V |
probably benign |
Het |
Nup188 |
A |
G |
2: 30,212,693 (GRCm39) |
D632G |
probably damaging |
Het |
Opa1 |
T |
C |
16: 29,429,748 (GRCm39) |
|
probably null |
Het |
Or12k7 |
T |
G |
2: 36,958,449 (GRCm39) |
L44R |
probably damaging |
Het |
Or1n2 |
T |
C |
2: 36,797,582 (GRCm39) |
V208A |
probably benign |
Het |
Or4c114 |
A |
G |
2: 88,905,303 (GRCm39) |
V44A |
probably benign |
Het |
Or5w17 |
T |
A |
2: 87,583,467 (GRCm39) |
Y290F |
probably damaging |
Het |
Pabpc1l |
G |
A |
2: 163,884,340 (GRCm39) |
G359D |
possibly damaging |
Het |
Plekhm2 |
TTCCTCCTCCT |
TTCCTCCT |
4: 141,359,292 (GRCm39) |
|
probably benign |
Het |
Pomgnt1 |
C |
T |
4: 115,994,624 (GRCm39) |
|
probably benign |
Het |
Psma5-ps |
A |
G |
10: 85,149,457 (GRCm39) |
|
noncoding transcript |
Het |
Qser1 |
A |
G |
2: 104,617,177 (GRCm39) |
C1122R |
possibly damaging |
Het |
Rfx8 |
A |
G |
1: 39,722,772 (GRCm39) |
S282P |
probably damaging |
Het |
Sec14l2 |
C |
T |
11: 4,053,673 (GRCm39) |
|
probably null |
Het |
Sim2 |
C |
A |
16: 93,910,281 (GRCm39) |
H228N |
probably benign |
Het |
Slc15a2 |
A |
G |
16: 36,772,445 (GRCm38) |
M179T |
probably benign |
Het |
Slc30a6 |
T |
A |
17: 74,719,319 (GRCm39) |
|
probably null |
Het |
Smarcc1 |
G |
A |
9: 110,035,153 (GRCm39) |
E859K |
possibly damaging |
Het |
Snx1 |
CTT |
CTTGTT |
9: 66,012,209 (GRCm39) |
|
probably benign |
Het |
Spen |
A |
G |
4: 141,201,664 (GRCm39) |
V2321A |
probably benign |
Het |
Spta1 |
A |
G |
1: 174,018,632 (GRCm39) |
|
probably benign |
Het |
Sytl1 |
C |
A |
4: 132,984,162 (GRCm39) |
|
probably benign |
Het |
Sytl1 |
A |
G |
4: 132,984,164 (GRCm39) |
|
probably benign |
Het |
Tent4a |
G |
A |
13: 69,655,074 (GRCm39) |
R224* |
probably null |
Het |
Terf2 |
T |
C |
8: 107,803,306 (GRCm39) |
K425E |
probably benign |
Het |
Tmem26 |
A |
G |
10: 68,614,548 (GRCm39) |
E321G |
probably benign |
Het |
Toe1 |
T |
C |
4: 116,663,290 (GRCm39) |
I62M |
probably benign |
Het |
Uck2 |
A |
T |
1: 167,062,280 (GRCm39) |
D149E |
probably benign |
Het |
Wnt5a |
G |
A |
14: 28,233,882 (GRCm39) |
A17T |
probably benign |
Het |
Yif1b |
T |
C |
7: 28,938,038 (GRCm39) |
|
probably null |
Het |
Zbtb8a |
T |
C |
4: 129,254,005 (GRCm39) |
H163R |
probably benign |
Het |
Zbtb8a |
GG |
GGATG |
4: 129,253,812 (GRCm39) |
|
probably benign |
Het |
Zkscan4 |
AGAGGAG |
AGAG |
13: 21,663,370 (GRCm39) |
|
probably benign |
Het |
Zmym1 |
A |
C |
4: 126,943,466 (GRCm39) |
H307Q |
probably benign |
Het |
Zmym1 |
C |
T |
4: 126,941,740 (GRCm39) |
D785N |
probably benign |
Het |
Zmym1 |
C |
T |
4: 126,942,043 (GRCm39) |
V684I |
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 |
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 |
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 |
2015-02-04 |