Incidental Mutation 'R7097:Fam135b'
ID |
550586 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Fam135b
|
Ensembl Gene |
ENSMUSG00000036800 |
Gene Name |
family with sequence similarity 135, member B |
Synonyms |
1700010C24Rik, A830008O07Rik |
MMRRC Submission |
045189-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R7097 (G1)
|
Quality Score |
225.009 |
Status
|
Validated
|
Chromosome |
15 |
Chromosomal Location |
71310800-71600282 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 71493917 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Valine to Alanine
at position 4
(V4A)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000022953
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000022953]
[ENSMUST00000229189]
|
AlphaFold |
Q9DAI6 |
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000022953
AA Change: V4A
PolyPhen 2
Score 0.916 (Sensitivity: 0.81; Specificity: 0.94)
|
SMART Domains |
Protein: ENSMUSP00000022953 Gene: ENSMUSG00000036800 AA Change: V4A
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 |
possibly damaging
Transcript: ENSMUST00000229189
AA Change: V4A
PolyPhen 2
Score 0.916 (Sensitivity: 0.81; Specificity: 0.94)
|
Meta Mutation Damage Score |
0.1795 |
Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.7%
- 20x: 99.1%
|
Validation Efficiency |
99% (75/76) |
Allele List at MGI |
|
Other mutations in this stock |
Total: 75 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
1700010I14Rik |
A |
G |
17: 9,224,052 (GRCm39) |
N435S |
probably damaging |
Het |
Aip |
A |
T |
19: 4,165,381 (GRCm39) |
V195E |
probably benign |
Het |
Amer3 |
A |
T |
1: 34,627,869 (GRCm39) |
I703F |
probably benign |
Het |
Amfr |
T |
C |
8: 94,738,637 (GRCm39) |
E7G |
probably benign |
Het |
Angel1 |
A |
G |
12: 86,773,158 (GRCm39) |
S4P |
probably damaging |
Het |
Atp2c1 |
A |
G |
9: 105,341,850 (GRCm39) |
I146T |
probably damaging |
Het |
Atp6v0e |
A |
G |
17: 26,914,390 (GRCm39) |
T72A |
probably benign |
Het |
Bahcc1 |
T |
C |
11: 120,163,472 (GRCm39) |
V590A |
possibly damaging |
Het |
Bcl6 |
A |
G |
16: 23,791,364 (GRCm39) |
V330A |
possibly damaging |
Het |
Bcl6 |
T |
C |
16: 23,791,652 (GRCm39) |
D234G |
probably damaging |
Het |
Btaf1 |
C |
T |
19: 36,926,502 (GRCm39) |
T58I |
probably damaging |
Het |
Ccdc175 |
A |
T |
12: 72,175,183 (GRCm39) |
|
probably null |
Het |
Cdca4 |
C |
A |
12: 112,785,189 (GRCm39) |
V180L |
probably benign |
Het |
Ces1g |
C |
A |
8: 94,043,665 (GRCm39) |
G425C |
possibly damaging |
Het |
Chl1 |
T |
C |
6: 103,683,409 (GRCm39) |
L745P |
probably damaging |
Het |
Clec4g |
T |
A |
8: 3,769,518 (GRCm39) |
T42S |
possibly damaging |
Het |
Ctsg |
A |
C |
14: 56,337,489 (GRCm39) |
I238S |
probably damaging |
Het |
Cyb5rl |
A |
T |
4: 106,944,513 (GRCm39) |
E41V |
unknown |
Het |
Dcdc2a |
A |
G |
13: 25,291,681 (GRCm39) |
E222G |
probably benign |
Het |
Dnaaf1 |
G |
T |
8: 120,323,538 (GRCm39) |
G509V |
possibly damaging |
Het |
Dnah5 |
A |
G |
15: 28,453,410 (GRCm39) |
I4394V |
probably benign |
Het |
Dot1l |
T |
G |
10: 80,626,560 (GRCm39) |
S1260R |
probably damaging |
Het |
Dst |
T |
G |
1: 34,208,341 (GRCm39) |
I1089S |
probably damaging |
Het |
Efcab3 |
A |
T |
11: 104,899,787 (GRCm39) |
I4350F |
possibly damaging |
Het |
Eps8l3 |
A |
G |
3: 107,791,801 (GRCm39) |
|
probably null |
Het |
Fnip2 |
T |
C |
3: 79,388,313 (GRCm39) |
E806G |
probably benign |
Het |
Fryl |
T |
A |
5: 73,231,251 (GRCm39) |
I1609F |
probably benign |
Het |
Gdi1 |
G |
A |
X: 73,350,461 (GRCm39) |
R55H |
probably benign |
Het |
Gsn |
A |
T |
2: 35,185,061 (GRCm39) |
K339* |
probably null |
Het |
Hecw2 |
T |
A |
1: 53,904,283 (GRCm39) |
Y1155F |
possibly damaging |
Het |
Kif20b |
T |
A |
19: 34,951,892 (GRCm39) |
N1723K |
probably damaging |
Het |
Kif2b |
T |
C |
11: 91,467,650 (GRCm39) |
D211G |
probably benign |
Het |
Lhfpl4 |
C |
T |
6: 113,153,632 (GRCm39) |
V140I |
probably benign |
Het |
Med16 |
C |
T |
10: 79,739,177 (GRCm39) |
G203D |
probably damaging |
Het |
Mrgpra3 |
T |
A |
7: 47,239,389 (GRCm39) |
Y179F |
probably benign |
Het |
Muc6 |
AGGCGCAGAAACCCTGGC |
AGGC |
7: 141,214,363 (GRCm39) |
|
probably null |
Het |
Myo18b |
A |
G |
5: 113,022,271 (GRCm39) |
S374P |
unknown |
Het |
Myoz1 |
A |
G |
14: 20,699,477 (GRCm39) |
I287T |
possibly damaging |
Het |
Ncoa6 |
T |
C |
2: 155,279,983 (GRCm39) |
D11G |
probably benign |
Het |
Nlrp9c |
A |
G |
7: 26,085,046 (GRCm39) |
Y178H |
probably damaging |
Het |
Nmur1 |
T |
C |
1: 86,315,230 (GRCm39) |
T212A |
probably damaging |
Het |
Oacyl |
A |
G |
18: 65,853,323 (GRCm39) |
D143G |
probably benign |
Het |
Obox5 |
A |
G |
7: 15,492,732 (GRCm39) |
Y229C |
probably damaging |
Het |
Or10d1c |
A |
T |
9: 38,893,914 (GRCm39) |
M142K |
probably benign |
Het |
Or1j12 |
A |
G |
2: 36,342,702 (GRCm39) |
Y35C |
probably damaging |
Het |
Or1j18 |
G |
T |
2: 36,624,436 (GRCm39) |
M34I |
probably benign |
Het |
Or1x2 |
C |
A |
11: 50,918,428 (GRCm39) |
L200I |
probably benign |
Het |
Or8c13 |
A |
T |
9: 38,091,632 (GRCm39) |
C162* |
probably null |
Het |
Pcdhb17 |
A |
C |
18: 37,619,566 (GRCm39) |
N452T |
probably benign |
Het |
Pear1 |
T |
G |
3: 87,658,752 (GRCm39) |
H901P |
probably benign |
Het |
Peds1 |
C |
G |
2: 167,503,398 (GRCm39) |
A7P |
probably benign |
Het |
Pi16 |
A |
G |
17: 29,545,313 (GRCm39) |
Y192C |
probably damaging |
Het |
Pip5k1b |
T |
G |
19: 24,335,424 (GRCm39) |
E362D |
probably damaging |
Het |
Pla2g5 |
T |
C |
4: 138,531,830 (GRCm39) |
D58G |
probably damaging |
Het |
Pole |
T |
A |
5: 110,472,968 (GRCm39) |
|
probably null |
Het |
Prdm16 |
G |
T |
4: 154,429,925 (GRCm39) |
T348K |
probably damaging |
Het |
Prkdc |
T |
A |
16: 15,507,207 (GRCm39) |
F896I |
probably damaging |
Het |
Prmt7 |
T |
C |
8: 106,961,732 (GRCm39) |
F215S |
unknown |
Het |
Prss23 |
T |
A |
7: 89,159,392 (GRCm39) |
T226S |
probably damaging |
Het |
Ptpn14 |
G |
A |
1: 189,595,595 (GRCm39) |
W739* |
probably null |
Het |
Rfx5 |
G |
T |
3: 94,863,850 (GRCm39) |
G135C |
probably damaging |
Het |
Scmh1 |
A |
G |
4: 120,382,252 (GRCm39) |
H573R |
probably benign |
Het |
Serpina5 |
G |
T |
12: 104,068,554 (GRCm39) |
|
probably null |
Het |
Sh3rf2 |
G |
A |
18: 42,237,227 (GRCm39) |
|
probably null |
Het |
Slc38a2 |
T |
C |
15: 96,591,182 (GRCm39) |
M229V |
probably damaging |
Het |
Slc6a17 |
C |
G |
3: 107,400,464 (GRCm39) |
G222R |
probably damaging |
Het |
Sp110 |
C |
T |
1: 85,507,406 (GRCm39) |
G367D |
possibly damaging |
Het |
Srcap |
C |
A |
7: 127,138,213 (GRCm39) |
L1128M |
probably damaging |
Het |
Tpra1 |
T |
A |
6: 88,885,276 (GRCm39) |
I76N |
probably damaging |
Het |
Trav6-4 |
A |
T |
14: 53,692,049 (GRCm39) |
Y52F |
probably benign |
Het |
Trp63 |
C |
A |
16: 25,639,227 (GRCm39) |
H138Q |
probably damaging |
Het |
Trub2 |
A |
G |
2: 29,669,838 (GRCm39) |
V177A |
possibly damaging |
Het |
Ugt2a2 |
T |
C |
5: 87,608,255 (GRCm39) |
D528G |
possibly damaging |
Het |
Wnk2 |
C |
A |
13: 49,256,314 (GRCm39) |
R269L |
possibly damaging |
Het |
Zc3h12c |
T |
A |
9: 52,027,226 (GRCm39) |
Q731L |
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 |
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 |
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'- GGGATGAAGGAAATTAGCTCTTAGTC -3'
(R):5'- AACACGGTGTTGCATTGGTC -3'
Sequencing Primer
(F):5'- GAAGGAAATTAGCTCTTAGTCAATGC -3'
(R):5'- ATTGGTCCTGTCAGCCACATGG -3'
|
Posted On |
2019-05-15 |