Incidental Mutation 'R9227:Fam135b'
ID |
699955 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Fam135b
|
Ensembl Gene |
ENSMUSG00000036800 |
Gene Name |
family with sequence similarity 135, member B |
Synonyms |
1700010C24Rik, A830008O07Rik |
MMRRC Submission |
068984-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R9227 (G1)
|
Quality Score |
225.009 |
Status
|
Validated
|
Chromosome |
15 |
Chromosomal Location |
71310800-71600282 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 71335856 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Lysine to Arginine
at position 446
(K446R)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000022953
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000022953]
|
AlphaFold |
Q9DAI6 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000022953
AA Change: K446R
PolyPhen 2
Score 0.285 (Sensitivity: 0.91; Specificity: 0.88)
|
SMART Domains |
Protein: ENSMUSP00000022953 Gene: ENSMUSG00000036800 AA Change: K446R
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 |
|
Meta Mutation Damage Score |
0.0846 |
Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.8%
- 20x: 99.2%
|
Validation Efficiency |
100% (79/79) |
Allele List at MGI |
|
Other mutations in this stock |
Total: 82 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Adarb1 |
A |
T |
10: 77,157,626 (GRCm39) |
F274I |
probably damaging |
Het |
Adprhl1 |
C |
T |
8: 13,271,974 (GRCm39) |
V1595I |
probably benign |
Het |
Anxa6 |
A |
G |
11: 54,898,694 (GRCm39) |
V160A |
probably benign |
Het |
Appl1 |
T |
C |
14: 26,645,692 (GRCm39) |
E706G |
unknown |
Het |
Arhgap21 |
T |
C |
2: 20,860,469 (GRCm39) |
T1313A |
possibly damaging |
Het |
Armc2 |
T |
C |
10: 41,823,935 (GRCm39) |
Y511C |
probably damaging |
Het |
Atp1a1 |
A |
T |
3: 101,499,750 (GRCm39) |
C111S |
probably damaging |
Het |
Atp6v0d2 |
T |
A |
4: 19,878,374 (GRCm39) |
M300L |
probably benign |
Het |
C1ra |
T |
C |
6: 124,493,739 (GRCm39) |
C164R |
probably damaging |
Het |
Cacna1h |
T |
C |
17: 25,599,856 (GRCm39) |
Y1659C |
probably damaging |
Het |
Catsperb |
T |
C |
12: 101,516,053 (GRCm39) |
I563T |
probably benign |
Het |
Cblif |
G |
A |
19: 11,737,748 (GRCm39) |
W386* |
probably null |
Het |
Cd180 |
TA |
TAA |
13: 102,841,514 (GRCm39) |
|
probably null |
Het |
Cd55b |
A |
T |
1: 130,350,619 (GRCm39) |
L26* |
probably null |
Het |
Cdc42bpa |
A |
G |
1: 179,933,638 (GRCm39) |
N759S |
probably benign |
Het |
Cenpj |
C |
T |
14: 56,802,176 (GRCm39) |
E130K |
possibly damaging |
Het |
Cep250 |
C |
T |
2: 155,812,042 (GRCm39) |
A446V |
unknown |
Het |
Chd7 |
C |
T |
4: 8,805,272 (GRCm39) |
S777L |
probably benign |
Het |
Chrm3 |
C |
A |
13: 9,928,479 (GRCm39) |
V186L |
probably benign |
Het |
Clrn2 |
A |
G |
5: 45,621,283 (GRCm39) |
T226A |
probably damaging |
Het |
Col3a1 |
C |
T |
1: 45,383,138 (GRCm39) |
P1071S |
unknown |
Het |
Dytn |
A |
T |
1: 63,686,611 (GRCm39) |
V353D |
probably benign |
Het |
Egfem1 |
G |
A |
3: 29,411,317 (GRCm39) |
E155K |
probably benign |
Het |
Eif3m |
A |
T |
2: 104,831,705 (GRCm39) |
M285K |
probably damaging |
Het |
Fam186a |
T |
C |
15: 99,853,384 (GRCm39) |
T119A |
unknown |
Het |
Frmd4a |
T |
C |
2: 4,612,844 (GRCm39) |
S1025P |
possibly damaging |
Het |
Fubp3 |
A |
G |
2: 31,502,564 (GRCm39) |
H449R |
probably benign |
Het |
Fyco1 |
A |
T |
9: 123,648,211 (GRCm39) |
I1241N |
probably damaging |
Het |
Gabpb2 |
A |
T |
3: 95,111,998 (GRCm39) |
M77K |
probably damaging |
Het |
Gfpt1 |
T |
A |
6: 87,027,906 (GRCm39) |
I4K |
probably damaging |
Het |
Glis1 |
T |
C |
4: 107,425,327 (GRCm39) |
S313P |
probably benign |
Het |
Golga4 |
T |
A |
9: 118,385,941 (GRCm39) |
M1021K |
possibly damaging |
Het |
Grid2ip |
G |
A |
5: 143,359,194 (GRCm39) |
R270Q |
probably damaging |
Het |
Hps4 |
G |
A |
5: 112,525,905 (GRCm39) |
S642N |
possibly damaging |
Het |
Ifit1 |
A |
G |
19: 34,625,236 (GRCm39) |
E124G |
possibly damaging |
Het |
Ifna14 |
T |
C |
4: 88,489,752 (GRCm39) |
D95G |
probably benign |
Het |
Ilkap |
A |
C |
1: 91,314,937 (GRCm39) |
I142S |
probably benign |
Het |
Inpp5e |
C |
T |
2: 26,288,616 (GRCm39) |
R588H |
probably damaging |
Het |
Kif1b |
A |
C |
4: 149,322,357 (GRCm39) |
M854R |
probably damaging |
Het |
Lcn6 |
A |
T |
2: 25,570,107 (GRCm39) |
K91M |
probably damaging |
Het |
Lpin1 |
A |
T |
12: 16,588,483 (GRCm39) |
S902R |
unknown |
Het |
Lrig1 |
C |
A |
6: 94,607,113 (GRCm39) |
C160F |
probably damaging |
Het |
Mapk13 |
T |
C |
17: 28,994,532 (GRCm39) |
I141T |
probably damaging |
Het |
Mapkapk3 |
A |
G |
9: 107,137,354 (GRCm39) |
L175P |
probably damaging |
Het |
Micall2 |
A |
G |
5: 139,701,827 (GRCm39) |
V472A |
unknown |
Het |
Mmp15 |
T |
C |
8: 96,092,959 (GRCm39) |
F113L |
probably benign |
Het |
Msh2 |
T |
G |
17: 88,026,717 (GRCm39) |
S738A |
probably benign |
Het |
Myb |
C |
T |
10: 21,030,612 (GRCm39) |
D62N |
probably benign |
Het |
Myo1f |
T |
C |
17: 33,795,424 (GRCm39) |
V53A |
probably damaging |
Het |
Ncf1 |
A |
T |
5: 134,250,718 (GRCm39) |
N367K |
probably benign |
Het |
Nim1k |
C |
A |
13: 120,174,118 (GRCm39) |
V259F |
probably damaging |
Het |
Nme8 |
T |
G |
13: 19,874,384 (GRCm39) |
I139L |
probably benign |
Het |
Odam |
T |
C |
5: 88,034,457 (GRCm39) |
F46L |
probably benign |
Het |
Ogfr |
GGCCAGAGGACCCCAAAAGCCAGGTGGAGCCAGAGGACCCCAAAAGCCAGGTGGAGCCAGAGGACCCCAAAAGCCAGGTGGAGCCAGAGGACCCCAAAAGCCAGGTGGGGCCAGAGGACCCCCAAAGCCAGGTGG |
GGCCAGAGGACCCCAAAAGCCAGGTGGAGCCAGAGGACCCCAAAAGCCAGGTGGAGCCAGAGGACCCCAAAAGCCAGGTGGGGCCAGAGGACCCCCAAAGCCAGGTGG |
2: 180,237,059 (GRCm39) |
|
probably benign |
Het |
Or7a42 |
G |
A |
10: 78,791,929 (GRCm39) |
D297N |
possibly damaging |
Het |
Pcare |
A |
G |
17: 72,057,217 (GRCm39) |
L820P |
probably damaging |
Het |
Pcdha9 |
A |
G |
18: 37,131,954 (GRCm39) |
E341G |
probably damaging |
Het |
Pmepa1 |
T |
C |
2: 173,117,962 (GRCm39) |
T6A |
probably benign |
Het |
Poglut1 |
A |
T |
16: 38,355,168 (GRCm39) |
D219E |
possibly damaging |
Het |
Racgap1 |
A |
G |
15: 99,534,078 (GRCm39) |
S145P |
possibly damaging |
Het |
Rasgef1a |
C |
T |
6: 118,066,110 (GRCm39) |
T441I |
possibly damaging |
Het |
Rbm6 |
T |
C |
9: 107,664,498 (GRCm39) |
T844A |
probably benign |
Het |
Rbmyf9 |
T |
G |
Y: 3,774,819 (GRCm39) |
D5E |
probably damaging |
Het |
Rell1 |
T |
C |
5: 64,097,105 (GRCm39) |
|
probably benign |
Het |
Ripk3 |
A |
G |
14: 56,023,303 (GRCm39) |
F134S |
probably benign |
Het |
Rnf169 |
T |
C |
7: 99,574,699 (GRCm39) |
D632G |
possibly damaging |
Het |
Sclt1 |
A |
T |
3: 41,665,631 (GRCm39) |
W146R |
probably benign |
Het |
Setd5 |
T |
C |
6: 113,098,755 (GRCm39) |
F796S |
possibly damaging |
Het |
Slc24a5 |
G |
T |
2: 124,922,568 (GRCm39) |
G110V |
probably damaging |
Het |
Slc30a10 |
T |
A |
1: 185,187,391 (GRCm39) |
M44K |
probably damaging |
Het |
Slc38a10 |
T |
A |
11: 119,996,781 (GRCm39) |
D772V |
probably benign |
Het |
Thy1 |
C |
T |
9: 43,958,004 (GRCm39) |
T44I |
probably damaging |
Het |
Tinagl1 |
G |
T |
4: 130,061,271 (GRCm39) |
S324Y |
probably benign |
Het |
Tll2 |
T |
A |
19: 41,093,436 (GRCm39) |
Y477F |
probably benign |
Het |
Tmco1 |
C |
T |
1: 167,136,132 (GRCm39) |
|
probably benign |
Het |
Tmco6 |
T |
C |
18: 36,874,719 (GRCm39) |
L402P |
probably damaging |
Het |
Tnrc18 |
G |
T |
5: 142,773,392 (GRCm39) |
A479D |
|
Het |
Uba7 |
T |
C |
9: 107,853,001 (GRCm39) |
V12A |
possibly damaging |
Het |
Usp5 |
T |
C |
6: 124,795,599 (GRCm39) |
D598G |
probably damaging |
Het |
Vmn1r158 |
C |
T |
7: 22,489,469 (GRCm39) |
V247I |
probably benign |
Het |
Vpreb1b |
A |
G |
16: 17,798,801 (GRCm39) |
N96D |
probably damaging |
Het |
Zcchc17 |
A |
T |
4: 130,230,928 (GRCm39) |
M87K |
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 |
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 |
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'- GTTTTGAAATTCACCAATGGTCAGG -3'
(R):5'- GTCAAATCTGAAGGTCATTCCCC -3'
Sequencing Primer
(F):5'- GGTACACCTGAGATTCTGAGCAC -3'
(R):5'- AAGGTCATTCCCCTTCAAAAATAC -3'
|
Posted On |
2022-02-07 |