Incidental Mutation 'R2076:Fam135b'
ID |
229180 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Fam135b
|
Ensembl Gene |
ENSMUSG00000036800 |
Gene Name |
family with sequence similarity 135, member B |
Synonyms |
1700010C24Rik, A830008O07Rik |
MMRRC Submission |
040081-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R2076 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
15 |
Chromosomal Location |
71310800-71600282 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to A
at 71350092 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Glutamic Acid to Aspartic acid
at position 349
(E349D)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000022953
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000022953]
|
AlphaFold |
Q9DAI6 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000022953
AA Change: E349D
PolyPhen 2
Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)
|
SMART Domains |
Protein: ENSMUSP00000022953 Gene: ENSMUSG00000036800 AA Change: E349D
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 |
0.6467 |
Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.4%
- 20x: 95.4%
|
Validation Efficiency |
98% (61/62) |
Allele List at MGI |
|
Other mutations in this stock |
Total: 62 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abca5 |
A |
T |
11: 110,178,478 (GRCm39) |
V1165D |
probably benign |
Het |
Acot11 |
T |
C |
4: 106,627,910 (GRCm39) |
H103R |
probably damaging |
Het |
Apba1 |
G |
T |
19: 23,870,587 (GRCm39) |
E140* |
probably null |
Het |
Bicdl1 |
A |
T |
5: 115,793,987 (GRCm39) |
I253N |
probably damaging |
Het |
Ccdc159 |
T |
C |
9: 21,840,802 (GRCm39) |
|
probably null |
Het |
Ccne2 |
A |
G |
4: 11,197,177 (GRCm39) |
R160G |
probably damaging |
Het |
Cct7 |
A |
T |
6: 85,445,122 (GRCm39) |
I458F |
probably damaging |
Het |
Cd3g |
T |
A |
9: 44,885,595 (GRCm39) |
D50V |
probably damaging |
Het |
Ces2h |
T |
C |
8: 105,745,660 (GRCm39) |
L461P |
probably benign |
Het |
Cplane1 |
T |
A |
15: 8,248,741 (GRCm39) |
D1763E |
possibly damaging |
Het |
Csn2 |
A |
G |
5: 87,844,033 (GRCm39) |
S19P |
probably damaging |
Het |
Cyp3a11 |
A |
T |
5: 145,816,576 (GRCm39) |
V4D |
probably benign |
Het |
Ddx3y |
A |
G |
Y: 1,266,593 (GRCm39) |
|
probably null |
Het |
Dipk1c |
G |
T |
18: 84,755,033 (GRCm39) |
D170Y |
probably damaging |
Het |
Dlgap1 |
C |
T |
17: 71,093,826 (GRCm39) |
Q716* |
probably null |
Het |
Dlx6 |
A |
G |
6: 6,867,098 (GRCm39) |
S234G |
probably benign |
Het |
Dnah7a |
T |
C |
1: 53,542,968 (GRCm39) |
T2401A |
probably benign |
Het |
Dnah7b |
T |
G |
1: 46,281,481 (GRCm39) |
Y2847* |
probably null |
Het |
Dpysl2 |
A |
G |
14: 67,102,571 (GRCm39) |
S30P |
probably damaging |
Het |
Elp1 |
T |
C |
4: 56,786,620 (GRCm39) |
D441G |
probably damaging |
Het |
Ezh2 |
A |
T |
6: 47,553,567 (GRCm39) |
L50* |
probably null |
Het |
Foxl3 |
A |
G |
5: 138,807,022 (GRCm39) |
D100G |
probably benign |
Het |
Frat2 |
T |
C |
19: 41,836,242 (GRCm39) |
T37A |
probably benign |
Het |
Hivep1 |
G |
A |
13: 42,317,869 (GRCm39) |
|
probably null |
Het |
Ift25 |
T |
C |
4: 107,136,964 (GRCm39) |
S121P |
possibly damaging |
Het |
Impdh1 |
G |
A |
6: 29,205,162 (GRCm39) |
A213V |
probably damaging |
Het |
Irf2 |
G |
T |
8: 47,298,962 (GRCm39) |
W252L |
probably damaging |
Het |
Irx4 |
A |
G |
13: 73,416,384 (GRCm39) |
D260G |
probably damaging |
Het |
Kalrn |
T |
A |
16: 34,152,513 (GRCm39) |
H338L |
probably benign |
Het |
Kif9 |
T |
A |
9: 110,314,100 (GRCm39) |
|
probably null |
Het |
Klhl24 |
T |
C |
16: 19,936,628 (GRCm39) |
V412A |
probably damaging |
Het |
Lgals8 |
T |
A |
13: 12,469,750 (GRCm39) |
K70* |
probably null |
Het |
Mrtfb |
T |
C |
16: 13,219,246 (GRCm39) |
S631P |
probably benign |
Het |
Myo1e |
T |
A |
9: 70,291,159 (GRCm39) |
N983K |
probably benign |
Het |
Nipbl |
T |
C |
15: 8,340,691 (GRCm39) |
R2010G |
probably benign |
Het |
Npw |
A |
T |
17: 24,876,413 (GRCm39) |
V166D |
possibly damaging |
Het |
Osbpl5 |
T |
C |
7: 143,262,881 (GRCm39) |
Y169C |
probably damaging |
Het |
Pcdh15 |
T |
C |
10: 74,178,479 (GRCm39) |
Y579H |
probably damaging |
Het |
Pde8a |
A |
G |
7: 80,958,693 (GRCm39) |
T330A |
probably benign |
Het |
Plxnb2 |
C |
T |
15: 89,042,229 (GRCm39) |
V1592M |
probably damaging |
Het |
Ppp2r3d |
A |
C |
9: 101,021,570 (GRCm39) |
M955R |
possibly damaging |
Het |
Ptprk |
T |
A |
10: 28,465,364 (GRCm39) |
I1349K |
probably damaging |
Het |
Rad52 |
C |
T |
6: 119,888,040 (GRCm39) |
H9Y |
probably benign |
Het |
Rapgef1 |
A |
G |
2: 29,592,520 (GRCm39) |
Q466R |
probably benign |
Het |
Rb1cc1 |
T |
A |
1: 6,320,262 (GRCm39) |
I1227N |
possibly damaging |
Het |
Rhbdf1 |
T |
C |
11: 32,164,088 (GRCm39) |
M273V |
probably benign |
Het |
Shoc1 |
A |
G |
4: 59,082,410 (GRCm39) |
V406A |
possibly damaging |
Het |
Slc30a3 |
G |
T |
5: 31,244,165 (GRCm39) |
Y323* |
probably null |
Het |
Slc5a9 |
T |
C |
4: 111,742,770 (GRCm39) |
I441V |
possibly damaging |
Het |
Spast |
G |
C |
17: 74,659,026 (GRCm39) |
G131A |
probably damaging |
Het |
Syne1 |
C |
G |
10: 4,990,897 (GRCm39) |
W8444S |
probably damaging |
Het |
Tgm4 |
G |
T |
9: 122,880,160 (GRCm39) |
A211S |
probably benign |
Het |
Themis2 |
T |
C |
4: 132,513,113 (GRCm39) |
D371G |
probably damaging |
Het |
Tmem132e |
T |
A |
11: 82,325,894 (GRCm39) |
I206N |
possibly damaging |
Het |
Uba3 |
G |
T |
6: 97,176,241 (GRCm39) |
D88E |
probably damaging |
Het |
Vmn1r230 |
T |
A |
17: 21,067,144 (GRCm39) |
M111K |
probably damaging |
Het |
Wdr35 |
C |
T |
12: 9,074,281 (GRCm39) |
H971Y |
possibly damaging |
Het |
Yeats2 |
C |
A |
16: 20,005,032 (GRCm39) |
H356Q |
possibly damaging |
Het |
Zfp180 |
A |
G |
7: 23,804,528 (GRCm39) |
K316E |
probably damaging |
Het |
Zfp518a |
T |
C |
19: 40,902,771 (GRCm39) |
L900P |
probably damaging |
Het |
Zfp655 |
A |
G |
5: 145,181,410 (GRCm39) |
N423D |
possibly damaging |
Het |
Zfp932 |
A |
G |
5: 110,157,334 (GRCm39) |
Q344R |
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 |
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'- TTGCCTGCACAGAACTGTAG -3'
(R):5'- GCTATAAAGACGTGTAAGCAGC -3'
Sequencing Primer
(F):5'- AGAGGGAAGCTAAGTGTCTGTTTCAC -3'
(R):5'- CTATAAAGACGTGTAAGCAGCAGAAG -3'
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Posted On |
2014-09-17 |