Incidental Mutation 'R0010:Fam135b'
ID |
32511 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Fam135b
|
Ensembl Gene |
ENSMUSG00000036800 |
Gene Name |
family with sequence similarity 135, member B |
Synonyms |
1700010C24Rik, A830008O07Rik |
MMRRC Submission |
038305-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R0010 (G1)
|
Quality Score |
225 |
Status
|
Validated
(trace)
|
Chromosome |
15 |
Chromosomal Location |
71310800-71600282 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 71493881 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Lysine to Arginine
at position 16
(K16R)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000155239
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000022953]
[ENSMUST00000229189]
|
AlphaFold |
Q9DAI6 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000022953
AA Change: K16R
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000022953 Gene: ENSMUSG00000036800 AA Change: K16R
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 |
probably damaging
Transcript: ENSMUST00000229189
AA Change: K16R
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000230569
|
Meta Mutation Damage Score |
0.1526 |
Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.0%
- 20x: 94.9%
|
Validation Efficiency |
100% (89/89) |
Allele List at MGI |
|
Other mutations in this stock |
Total: 82 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Adgrf3 |
T |
C |
5: 30,410,607 (GRCm39) |
|
probably benign |
Het |
Ahrr |
G |
A |
13: 74,431,143 (GRCm39) |
|
probably benign |
Het |
Aoc1l3 |
A |
T |
6: 48,965,840 (GRCm39) |
H616L |
probably damaging |
Het |
Bbs7 |
T |
C |
3: 36,661,866 (GRCm39) |
|
probably null |
Het |
Cacna1h |
T |
C |
17: 25,599,818 (GRCm39) |
K1566E |
probably damaging |
Het |
Ccdc73 |
C |
T |
2: 104,811,332 (GRCm39) |
|
probably benign |
Het |
Cd74 |
A |
T |
18: 60,942,143 (GRCm39) |
H124L |
probably benign |
Het |
Cd74 |
A |
T |
18: 60,936,968 (GRCm39) |
|
probably benign |
Het |
Cdk5rap2 |
T |
C |
4: 70,161,696 (GRCm39) |
E270G |
probably benign |
Het |
Ces2a |
G |
A |
8: 105,468,028 (GRCm39) |
D520N |
probably benign |
Het |
Cldnd1 |
T |
A |
16: 58,551,622 (GRCm39) |
|
probably benign |
Het |
Cox17 |
T |
A |
16: 38,167,532 (GRCm39) |
C24S |
possibly damaging |
Het |
Cyp2b9 |
T |
A |
7: 25,886,178 (GRCm39) |
|
probably benign |
Het |
Dennd4a |
T |
C |
9: 64,803,997 (GRCm39) |
L1112P |
probably benign |
Het |
Dennd4c |
T |
C |
4: 86,699,814 (GRCm39) |
S222P |
probably damaging |
Het |
Dhx37 |
T |
A |
5: 125,508,680 (GRCm39) |
Q85L |
probably benign |
Het |
Egfem1 |
G |
T |
3: 29,637,068 (GRCm39) |
C192F |
probably damaging |
Het |
Eif3f |
A |
T |
7: 108,540,212 (GRCm39) |
N336Y |
possibly damaging |
Het |
Evc2 |
T |
A |
5: 37,574,793 (GRCm39) |
L1016Q |
probably damaging |
Het |
Fam114a2 |
G |
T |
11: 57,404,982 (GRCm39) |
T40N |
probably damaging |
Het |
Fcho1 |
A |
G |
8: 72,162,643 (GRCm39) |
Y725H |
probably damaging |
Het |
Frem1 |
T |
C |
4: 82,918,335 (GRCm39) |
I536V |
probably benign |
Het |
Galnt2l |
G |
A |
8: 122,997,337 (GRCm39) |
|
probably benign |
Het |
Ginm1 |
T |
C |
10: 7,651,138 (GRCm39) |
|
probably benign |
Het |
Glrb |
A |
T |
3: 80,767,622 (GRCm39) |
|
probably benign |
Het |
Glt6d1 |
C |
A |
2: 25,684,739 (GRCm39) |
|
probably null |
Het |
Gm10320 |
T |
C |
13: 98,626,054 (GRCm39) |
Y110C |
probably damaging |
Het |
Gm3985 |
A |
T |
8: 33,432,484 (GRCm39) |
|
noncoding transcript |
Het |
Gm5422 |
A |
G |
10: 31,125,750 (GRCm39) |
|
noncoding transcript |
Het |
Igkv6-29 |
A |
T |
6: 70,115,754 (GRCm39) |
|
probably benign |
Het |
Inpp5d |
G |
A |
1: 87,625,268 (GRCm39) |
|
probably null |
Het |
Itpr3 |
T |
G |
17: 27,339,951 (GRCm39) |
V2610G |
probably damaging |
Het |
Kmt5c |
T |
A |
7: 4,749,207 (GRCm39) |
M88K |
probably benign |
Het |
Lrp12 |
C |
T |
15: 39,741,672 (GRCm39) |
A367T |
probably damaging |
Het |
Ltbp1 |
A |
G |
17: 75,670,386 (GRCm39) |
T1476A |
probably damaging |
Het |
Mcoln2 |
C |
T |
3: 145,889,316 (GRCm39) |
T374M |
probably damaging |
Het |
Milr1 |
T |
G |
11: 106,657,829 (GRCm39) |
*209G |
probably null |
Het |
Mitf |
A |
G |
6: 97,784,242 (GRCm39) |
K33R |
probably benign |
Het |
Mon2 |
A |
C |
10: 122,868,599 (GRCm39) |
S485A |
probably damaging |
Het |
Mpdu1 |
C |
T |
11: 69,549,667 (GRCm39) |
G47R |
probably damaging |
Het |
Ms4a4d |
A |
G |
19: 11,532,190 (GRCm39) |
N112S |
probably damaging |
Het |
Mybpc3 |
G |
A |
2: 90,965,178 (GRCm39) |
W1082* |
probably null |
Het |
Myl3 |
A |
C |
9: 110,596,997 (GRCm39) |
D119A |
probably damaging |
Het |
Naa15 |
A |
T |
3: 51,343,634 (GRCm39) |
|
probably null |
Het |
Nav3 |
A |
G |
10: 109,659,087 (GRCm39) |
|
probably benign |
Het |
Nek7 |
T |
A |
1: 138,471,942 (GRCm39) |
Q66L |
possibly damaging |
Het |
Nktr |
G |
A |
9: 121,570,232 (GRCm39) |
|
probably benign |
Het |
Nlgn1 |
G |
T |
3: 25,490,006 (GRCm39) |
|
probably benign |
Het |
Npr1 |
T |
C |
3: 90,362,139 (GRCm39) |
E1002G |
probably damaging |
Het |
Nup133 |
A |
T |
8: 124,631,318 (GRCm39) |
I1072N |
probably damaging |
Het |
Oc90 |
C |
T |
15: 65,748,397 (GRCm39) |
C371Y |
probably damaging |
Het |
Or5ak24 |
A |
T |
2: 85,260,239 (GRCm39) |
D311E |
probably benign |
Het |
Or7g20 |
A |
T |
9: 18,946,618 (GRCm39) |
L66F |
probably damaging |
Het |
Or8b42 |
A |
T |
9: 38,342,216 (GRCm39) |
I213F |
possibly damaging |
Het |
Pradc1 |
A |
T |
6: 85,424,213 (GRCm39) |
N44K |
probably damaging |
Het |
Pradc1 |
T |
C |
6: 85,424,602 (GRCm39) |
D116G |
probably damaging |
Het |
Ptprk |
G |
A |
10: 28,461,965 (GRCm39) |
C91Y |
probably damaging |
Het |
Pus7 |
T |
C |
5: 23,952,843 (GRCm39) |
I491V |
probably benign |
Het |
Rock1 |
T |
A |
18: 10,084,380 (GRCm39) |
D951V |
probably damaging |
Het |
Scgb2b26 |
T |
A |
7: 33,643,774 (GRCm39) |
E55D |
probably damaging |
Het |
Scn8a |
T |
C |
15: 100,911,454 (GRCm39) |
V958A |
probably damaging |
Het |
Sec14l1 |
T |
C |
11: 117,034,596 (GRCm39) |
|
probably benign |
Het |
Sec24c |
A |
G |
14: 20,739,329 (GRCm39) |
|
probably benign |
Het |
Sema6b |
C |
T |
17: 56,431,105 (GRCm39) |
E853K |
probably benign |
Het |
Sgk1 |
G |
A |
10: 21,873,337 (GRCm39) |
|
probably null |
Het |
Shprh |
C |
T |
10: 11,027,675 (GRCm39) |
T94I |
probably benign |
Het |
Slc16a3 |
T |
C |
11: 120,847,531 (GRCm39) |
S240P |
probably benign |
Het |
Slc5a8 |
T |
C |
10: 88,722,452 (GRCm39) |
V95A |
probably benign |
Het |
Smg1 |
A |
T |
7: 117,771,082 (GRCm39) |
|
probably benign |
Het |
Spta1 |
G |
A |
1: 174,045,509 (GRCm39) |
V1556I |
probably benign |
Het |
Trappc14 |
T |
C |
5: 138,258,555 (GRCm39) |
|
probably null |
Het |
Trappc4 |
G |
A |
9: 44,316,528 (GRCm39) |
|
probably benign |
Het |
Tubgcp6 |
A |
G |
15: 88,987,386 (GRCm39) |
S1188P |
probably benign |
Het |
Txlna |
T |
G |
4: 129,522,879 (GRCm39) |
D487A |
probably benign |
Het |
Ube2d2b |
T |
C |
5: 107,978,502 (GRCm39) |
F51S |
possibly damaging |
Het |
Vmn2r6 |
G |
A |
3: 64,466,966 (GRCm39) |
Q178* |
probably null |
Het |
Wdfy3 |
T |
C |
5: 101,996,215 (GRCm39) |
T3234A |
probably damaging |
Het |
Ylpm1 |
C |
A |
12: 85,075,800 (GRCm39) |
Q384K |
probably damaging |
Het |
Zbtb41 |
T |
G |
1: 139,351,268 (GRCm39) |
V127G |
probably damaging |
Het |
Zfp605 |
T |
A |
5: 110,275,400 (GRCm39) |
C173S |
probably benign |
Het |
Zfp608 |
A |
T |
18: 55,028,286 (GRCm39) |
|
probably benign |
Het |
Zhx2 |
T |
C |
15: 57,684,670 (GRCm39) |
V13A |
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 |
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 |
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'- GCATAAACCTTCCATCTGCAAACTCACT -3'
(R):5'- GGTCTTGCCCATCTAAGCATTGCTA -3'
Sequencing Primer
(F):5'- GGATGAAGGAAATTAGCTCTTAGTC -3'
(R):5'- GCCCATCTAAGCATTGCTAAGTTG -3'
|
Posted On |
2013-05-09 |