Incidental Mutation 'R0230:Fam135b'
ID |
34081 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Fam135b
|
Ensembl Gene |
ENSMUSG00000036800 |
Gene Name |
family with sequence similarity 135, member B |
Synonyms |
1700010C24Rik, A830008O07Rik |
MMRRC Submission |
038473-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R0230 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
15 |
Chromosomal Location |
71310800-71600282 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to G
at 71317886 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Isoleucine to Leucine
at position 1359
(I1359L)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000022953
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000022953]
|
AlphaFold |
Q9DAI6 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000022953
AA Change: I1359L
PolyPhen 2
Score 0.016 (Sensitivity: 0.95; Specificity: 0.79)
|
SMART Domains |
Protein: ENSMUSP00000022953 Gene: ENSMUSG00000036800 AA Change: I1359L
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 |
0.1499 |
Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.7%
- 10x: 97.3%
- 20x: 95.7%
|
Validation Efficiency |
100% (83/83) |
Allele List at MGI |
|
Other mutations in this stock |
Total: 80 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Amy1 |
T |
C |
3: 113,352,079 (GRCm39) |
D371G |
probably benign |
Het |
Asrgl1 |
T |
A |
19: 9,095,883 (GRCm39) |
|
probably benign |
Het |
Asxl3 |
T |
A |
18: 22,585,383 (GRCm39) |
|
probably benign |
Het |
B3galnt1 |
T |
C |
3: 69,482,673 (GRCm39) |
N196S |
possibly damaging |
Het |
Bbof1 |
A |
G |
12: 84,471,978 (GRCm39) |
H74R |
probably damaging |
Het |
Bpifb9b |
C |
T |
2: 154,158,995 (GRCm39) |
T504M |
probably damaging |
Het |
Cdk12 |
T |
G |
11: 98,094,817 (GRCm39) |
S208R |
probably damaging |
Het |
Cdk5r1 |
T |
C |
11: 80,368,576 (GRCm39) |
L81P |
probably damaging |
Het |
Chrd |
T |
C |
16: 20,552,025 (GRCm39) |
L43P |
probably benign |
Het |
Col6a4 |
A |
C |
9: 105,949,565 (GRCm39) |
M690R |
probably benign |
Het |
Cyp39a1 |
A |
T |
17: 44,042,903 (GRCm39) |
R418W |
probably damaging |
Het |
Dars2 |
C |
T |
1: 160,890,357 (GRCm39) |
V162M |
probably benign |
Het |
Dixdc1 |
C |
T |
9: 50,606,807 (GRCm39) |
V270M |
possibly damaging |
Het |
Dnah11 |
C |
A |
12: 117,946,791 (GRCm39) |
E1194* |
probably null |
Het |
Dnah7b |
T |
C |
1: 46,258,508 (GRCm39) |
S1900P |
probably damaging |
Het |
Dnah9 |
C |
T |
11: 65,746,141 (GRCm39) |
E3991K |
probably damaging |
Het |
Dsp |
A |
T |
13: 38,381,681 (GRCm39) |
I2210F |
probably benign |
Het |
Ebf1 |
A |
G |
11: 44,886,949 (GRCm39) |
S556G |
probably damaging |
Het |
Enam |
G |
A |
5: 88,637,514 (GRCm39) |
|
probably benign |
Het |
Eno1b |
T |
C |
18: 48,180,806 (GRCm39) |
I328T |
probably benign |
Het |
Epc1 |
T |
C |
18: 6,440,168 (GRCm39) |
D579G |
probably damaging |
Het |
Ephb3 |
A |
T |
16: 21,039,525 (GRCm39) |
I426F |
probably damaging |
Het |
Fcgbpl1 |
T |
A |
7: 27,856,250 (GRCm39) |
H2012Q |
probably damaging |
Het |
Gm16519 |
T |
C |
17: 71,236,128 (GRCm39) |
S26P |
probably benign |
Het |
Gm17622 |
T |
A |
13: 96,627,594 (GRCm39) |
|
probably null |
Het |
Gpat2 |
G |
A |
2: 127,277,765 (GRCm39) |
V764I |
possibly damaging |
Het |
Gpx4 |
G |
A |
10: 79,890,838 (GRCm39) |
A81T |
probably benign |
Het |
Gss |
C |
A |
2: 155,420,326 (GRCm39) |
R83L |
probably damaging |
Het |
Hcls1 |
C |
A |
16: 36,758,216 (GRCm39) |
Q36K |
probably damaging |
Het |
Hepacam2 |
A |
G |
6: 3,463,336 (GRCm39) |
V438A |
probably benign |
Het |
Hnf4a |
T |
C |
2: 163,401,005 (GRCm39) |
F184S |
probably damaging |
Het |
Katnal1 |
T |
A |
5: 148,855,460 (GRCm39) |
D90V |
possibly damaging |
Het |
Kcnt2 |
A |
G |
1: 140,174,083 (GRCm39) |
D30G |
probably benign |
Het |
Kyat1 |
T |
C |
2: 30,084,087 (GRCm39) |
E11G |
probably benign |
Het |
Lefty1 |
T |
A |
1: 180,764,579 (GRCm39) |
V168E |
probably damaging |
Het |
Map2k6 |
C |
T |
11: 110,387,281 (GRCm39) |
P218S |
probably damaging |
Het |
Mlkl |
C |
G |
8: 112,041,694 (GRCm39) |
K415N |
probably benign |
Het |
Myh7 |
A |
T |
14: 55,211,390 (GRCm39) |
M1593K |
probably benign |
Het |
Myo19 |
T |
A |
11: 84,784,159 (GRCm39) |
C186S |
possibly damaging |
Het |
Ngp |
T |
C |
9: 110,249,069 (GRCm39) |
L47P |
probably damaging |
Het |
Nkiras1 |
A |
G |
14: 18,280,185 (GRCm38) |
N192S |
probably benign |
Het |
Or1j17 |
G |
A |
2: 36,578,628 (GRCm39) |
V205M |
probably benign |
Het |
Or2n1 |
A |
G |
17: 38,486,841 (GRCm39) |
I289V |
probably damaging |
Het |
Or2z8 |
C |
T |
8: 72,812,244 (GRCm39) |
T240M |
probably damaging |
Het |
Or8u9 |
T |
C |
2: 86,001,886 (GRCm39) |
I92V |
probably benign |
Het |
Pdcd6ip |
A |
G |
9: 113,514,361 (GRCm39) |
|
probably benign |
Het |
Pde4b |
T |
C |
4: 102,454,707 (GRCm39) |
Y186H |
probably benign |
Het |
Pex7 |
A |
G |
10: 19,780,331 (GRCm39) |
V101A |
possibly damaging |
Het |
Phldb3 |
G |
A |
7: 24,312,004 (GRCm39) |
R106Q |
probably benign |
Het |
Plxnc1 |
A |
G |
10: 94,635,209 (GRCm39) |
V1339A |
probably benign |
Het |
Proser1 |
A |
G |
3: 53,386,383 (GRCm39) |
N755S |
probably damaging |
Het |
Ptpn13 |
A |
G |
5: 103,674,997 (GRCm39) |
D658G |
probably damaging |
Het |
Rassf8 |
A |
C |
6: 145,765,700 (GRCm39) |
|
probably benign |
Het |
Rfc4 |
G |
A |
16: 22,932,849 (GRCm39) |
Q363* |
probably null |
Het |
Rxfp1 |
T |
C |
3: 79,552,282 (GRCm39) |
N673S |
probably damaging |
Het |
Scn7a |
T |
C |
2: 66,556,628 (GRCm39) |
E319G |
probably damaging |
Het |
Scnn1g |
A |
G |
7: 121,345,984 (GRCm39) |
|
probably benign |
Het |
Scube2 |
C |
T |
7: 109,423,971 (GRCm39) |
|
probably null |
Het |
Slc4a4 |
A |
C |
5: 89,304,195 (GRCm39) |
H502P |
possibly damaging |
Het |
Slc6a13 |
A |
G |
6: 121,301,262 (GRCm39) |
N184D |
probably benign |
Het |
Slco1a5 |
T |
A |
6: 142,182,054 (GRCm39) |
|
probably benign |
Het |
Slf1 |
T |
A |
13: 77,260,867 (GRCm39) |
|
probably benign |
Het |
Smarca4 |
G |
A |
9: 21,612,168 (GRCm39) |
V1518I |
probably damaging |
Het |
Smyd3 |
A |
G |
1: 179,250,993 (GRCm39) |
|
probably benign |
Het |
Sox5 |
A |
G |
6: 144,155,064 (GRCm39) |
F11L |
probably benign |
Het |
Spag17 |
T |
C |
3: 100,014,143 (GRCm39) |
S2139P |
probably benign |
Het |
Spice1 |
A |
T |
16: 44,185,939 (GRCm39) |
|
probably benign |
Het |
Sptan1 |
T |
A |
2: 29,900,704 (GRCm39) |
|
probably benign |
Het |
Srebf2 |
T |
A |
15: 82,066,286 (GRCm39) |
N571K |
probably damaging |
Het |
Tbl3 |
A |
G |
17: 24,920,307 (GRCm39) |
L670P |
probably damaging |
Het |
Tmem45a2 |
A |
G |
16: 56,867,359 (GRCm39) |
V114A |
possibly damaging |
Het |
Tmigd3 |
A |
G |
3: 105,826,053 (GRCm39) |
N132D |
possibly damaging |
Het |
Ttn |
T |
C |
2: 76,567,778 (GRCm39) |
D19378G |
probably damaging |
Het |
Ugcg |
C |
A |
4: 59,189,739 (GRCm39) |
Y32* |
probably null |
Het |
Ush2a |
C |
T |
1: 188,582,301 (GRCm39) |
P3788L |
probably damaging |
Het |
Usp22 |
T |
A |
11: 61,050,023 (GRCm39) |
|
probably benign |
Het |
Xaf1 |
T |
C |
11: 72,197,381 (GRCm39) |
|
probably benign |
Het |
Zbtb41 |
C |
T |
1: 139,374,673 (GRCm39) |
T711I |
probably damaging |
Het |
Zfp457 |
T |
C |
13: 67,442,180 (GRCm39) |
T132A |
possibly damaging |
Het |
Zfp64 |
T |
G |
2: 168,754,150 (GRCm39) |
|
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 |
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'- TCTTGAGCAGCTCTGGACAGTCAC -3'
(R):5'- GGCCATTATGTCATTGGCACTCCAC -3'
Sequencing Primer
(F):5'- AGTCACCCAGGCTGCTC -3'
(R):5'- AGGGCCAGTGTATGCAGAA -3'
|
Posted On |
2013-05-09 |