Incidental Mutation 'R4748:Fam135b'
ID |
357337 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Fam135b
|
Ensembl Gene |
ENSMUSG00000036800 |
Gene Name |
family with sequence similarity 135, member B |
Synonyms |
1700010C24Rik, A830008O07Rik |
MMRRC Submission |
042030-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R4748 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
15 |
Chromosomal Location |
71310800-71600282 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to A
at 71335904 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Aspartic acid to Valine
at position 430
(D430V)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000022953
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000022953]
|
AlphaFold |
Q9DAI6 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000022953
AA Change: D430V
PolyPhen 2
Score 0.004 (Sensitivity: 0.98; Specificity: 0.59)
|
SMART Domains |
Protein: ENSMUSP00000022953 Gene: ENSMUSG00000036800 AA Change: D430V
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
|
Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.1%
- 20x: 94.9%
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 85 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
2310009B15Rik |
T |
A |
1: 138,784,394 (GRCm39) |
E54D |
possibly damaging |
Het |
Abcb6 |
C |
A |
1: 75,154,002 (GRCm39) |
G367W |
probably damaging |
Het |
Asprv1 |
A |
G |
6: 86,605,405 (GRCm39) |
M84V |
probably damaging |
Het |
Aspscr1 |
T |
C |
11: 120,592,333 (GRCm39) |
V291A |
probably damaging |
Het |
B4galnt4 |
T |
C |
7: 140,651,633 (GRCm39) |
F980L |
probably damaging |
Het |
Bpi |
G |
A |
2: 158,113,941 (GRCm39) |
V280I |
possibly damaging |
Het |
Bptf |
T |
C |
11: 106,986,706 (GRCm39) |
D581G |
probably damaging |
Het |
Cap2 |
T |
A |
13: 46,793,302 (GRCm39) |
Y223N |
possibly damaging |
Het |
Ccdc141 |
A |
C |
2: 76,888,324 (GRCm39) |
I480M |
possibly damaging |
Het |
Ccn4 |
C |
A |
15: 66,778,489 (GRCm39) |
Y103* |
probably null |
Het |
Ccnh |
T |
A |
13: 85,337,758 (GRCm39) |
V35E |
probably benign |
Het |
Cd6 |
G |
T |
19: 10,771,589 (GRCm39) |
S433* |
probably null |
Het |
Ceacam10 |
A |
C |
7: 24,480,477 (GRCm39) |
I83L |
probably benign |
Het |
Chek2 |
T |
C |
5: 111,003,705 (GRCm39) |
|
probably null |
Het |
Chia1 |
A |
T |
3: 106,029,765 (GRCm39) |
D73V |
probably damaging |
Het |
Commd2 |
G |
A |
3: 57,554,215 (GRCm39) |
T162I |
probably benign |
Het |
Creb3l3 |
C |
T |
10: 80,921,881 (GRCm39) |
A316T |
probably benign |
Het |
Cul4a |
A |
G |
8: 13,173,526 (GRCm39) |
K1R |
probably benign |
Het |
Cyp2c23 |
T |
C |
19: 44,005,176 (GRCm39) |
|
probably null |
Het |
D630045J12Rik |
T |
C |
6: 38,173,776 (GRCm39) |
T131A |
possibly damaging |
Het |
Dctn4 |
A |
C |
18: 60,683,308 (GRCm39) |
K295N |
probably damaging |
Het |
Dnah1 |
A |
G |
14: 31,041,902 (GRCm39) |
V23A |
probably benign |
Het |
Dync1i1 |
A |
G |
6: 5,767,048 (GRCm39) |
K91E |
possibly damaging |
Het |
Dzip1l |
A |
G |
9: 99,524,704 (GRCm39) |
D275G |
probably damaging |
Het |
Enam |
C |
A |
5: 88,649,402 (GRCm39) |
P304T |
probably damaging |
Het |
Enpep |
A |
G |
3: 129,125,812 (GRCm39) |
Y107H |
probably damaging |
Het |
Exd2 |
T |
C |
12: 80,527,350 (GRCm39) |
L27P |
probably damaging |
Het |
Fam222b |
C |
T |
11: 78,045,429 (GRCm39) |
T202I |
possibly damaging |
Het |
Fmod |
T |
A |
1: 133,968,912 (GRCm39) |
N317K |
probably damaging |
Het |
Frem2 |
A |
G |
3: 53,448,514 (GRCm39) |
F2301L |
probably damaging |
Het |
Frem3 |
T |
C |
8: 81,338,088 (GRCm39) |
F127S |
probably damaging |
Het |
Gbp7 |
A |
G |
3: 142,243,848 (GRCm39) |
S132G |
probably benign |
Het |
Gm4787 |
A |
G |
12: 81,424,830 (GRCm39) |
C443R |
probably damaging |
Het |
Grik2 |
T |
C |
10: 49,411,437 (GRCm39) |
M5V |
possibly damaging |
Het |
Helb |
T |
C |
10: 119,920,754 (GRCm39) |
D1063G |
probably benign |
Het |
Kirrel1 |
C |
T |
3: 86,996,458 (GRCm39) |
M380I |
probably null |
Het |
Krt90 |
G |
A |
15: 101,463,768 (GRCm39) |
L429F |
probably damaging |
Het |
Lrr1 |
C |
A |
12: 69,221,236 (GRCm39) |
T126K |
probably benign |
Het |
Mgat4e |
C |
A |
1: 134,469,766 (GRCm39) |
D93Y |
probably damaging |
Het |
Mllt3 |
A |
T |
4: 87,759,018 (GRCm39) |
S343R |
possibly damaging |
Het |
Mms19 |
T |
A |
19: 41,932,997 (GRCm39) |
S1031C |
probably damaging |
Het |
Mtrf1 |
C |
T |
14: 79,649,090 (GRCm39) |
H237Y |
probably damaging |
Het |
Nckap1l |
T |
A |
15: 103,381,483 (GRCm39) |
L408Q |
probably damaging |
Het |
Oit3 |
A |
T |
10: 59,259,904 (GRCm39) |
C500S |
probably damaging |
Het |
Or11g1 |
T |
G |
14: 50,651,333 (GRCm39) |
L111V |
possibly damaging |
Het |
Or13c3 |
A |
G |
4: 52,856,076 (GRCm39) |
S146P |
possibly damaging |
Het |
Or4a39 |
C |
T |
2: 89,236,599 (GRCm39) |
V275I |
probably benign |
Het |
Or5d36 |
T |
A |
2: 87,900,956 (GRCm39) |
I257L |
probably benign |
Het |
Otud7a |
T |
C |
7: 63,385,663 (GRCm39) |
S376P |
possibly damaging |
Het |
Pabpc2 |
A |
T |
18: 39,907,322 (GRCm39) |
K196* |
probably null |
Het |
Paqr8 |
T |
A |
1: 21,005,637 (GRCm39) |
C264S |
probably benign |
Het |
Pgm1 |
T |
A |
4: 99,839,176 (GRCm39) |
F459Y |
probably benign |
Het |
Phip |
C |
A |
9: 82,790,922 (GRCm39) |
V675L |
probably benign |
Het |
Pnma1 |
T |
G |
12: 84,194,497 (GRCm39) |
T69P |
probably benign |
Het |
Ppp1r14bl |
T |
C |
1: 23,140,951 (GRCm39) |
E121G |
probably damaging |
Het |
Ptpn12 |
A |
T |
5: 21,210,383 (GRCm39) |
C242* |
probably null |
Het |
Rabep1 |
T |
A |
11: 70,799,294 (GRCm39) |
V306E |
probably benign |
Het |
Ros1 |
C |
T |
10: 51,992,093 (GRCm39) |
D1377N |
probably benign |
Het |
Ryr3 |
T |
C |
2: 112,794,750 (GRCm39) |
T121A |
possibly damaging |
Het |
Scaf11 |
G |
A |
15: 96,318,302 (GRCm39) |
Q421* |
probably null |
Het |
Shcbp1 |
G |
A |
8: 4,794,512 (GRCm39) |
T427M |
probably damaging |
Het |
Shprh |
G |
A |
10: 11,046,220 (GRCm39) |
R979H |
probably damaging |
Het |
Slc22a27 |
C |
T |
19: 7,903,241 (GRCm39) |
C163Y |
probably benign |
Het |
Slc27a1 |
A |
G |
8: 72,033,319 (GRCm39) |
D287G |
probably damaging |
Het |
Slc27a1 |
C |
T |
8: 72,033,453 (GRCm39) |
T310M |
possibly damaging |
Het |
Slc29a3 |
A |
G |
10: 60,552,105 (GRCm39) |
V313A |
probably benign |
Het |
Slc35f2 |
A |
T |
9: 53,679,069 (GRCm39) |
M1L |
probably benign |
Het |
Sltm |
G |
C |
9: 70,488,647 (GRCm39) |
R599T |
probably damaging |
Het |
Spic |
T |
A |
10: 88,511,752 (GRCm39) |
Q168L |
probably damaging |
Het |
Spink6 |
G |
A |
18: 44,215,428 (GRCm39) |
|
probably null |
Het |
Stac2 |
T |
C |
11: 97,932,198 (GRCm39) |
E235G |
possibly damaging |
Het |
Szt2 |
G |
A |
4: 118,246,388 (GRCm39) |
Q957* |
probably null |
Het |
Them7 |
A |
T |
2: 105,208,991 (GRCm39) |
T104S |
possibly damaging |
Het |
Tmed4 |
T |
A |
11: 6,221,716 (GRCm39) |
I207F |
possibly damaging |
Het |
Tmem248 |
A |
G |
5: 130,265,731 (GRCm39) |
E178G |
probably benign |
Het |
Tomm40l |
G |
A |
1: 171,047,131 (GRCm39) |
R296* |
probably null |
Het |
Trim80 |
C |
A |
11: 115,338,964 (GRCm39) |
T598N |
possibly damaging |
Het |
Trim9 |
T |
C |
12: 70,295,047 (GRCm39) |
N688D |
probably damaging |
Het |
Vil1 |
C |
T |
1: 74,460,425 (GRCm39) |
A194V |
probably damaging |
Het |
Vmn2r61 |
A |
T |
7: 41,916,565 (GRCm39) |
M393L |
probably damaging |
Het |
Vmn2r63 |
C |
T |
7: 42,577,544 (GRCm39) |
M331I |
probably benign |
Het |
Vps33b |
G |
T |
7: 79,939,796 (GRCm39) |
A516S |
probably damaging |
Het |
Zc3h6 |
G |
A |
2: 128,844,160 (GRCm39) |
G235R |
probably damaging |
Het |
Zfp612 |
T |
A |
8: 110,815,304 (GRCm39) |
D170E |
probably benign |
Het |
Zfp746 |
A |
G |
6: 48,041,490 (GRCm39) |
I412T |
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 |
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 |
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'- TGAGATTCTGAGCACACATCG -3'
(R):5'- CTGTACATTCCCAAGTAGAAAAGG -3'
Sequencing Primer
(F):5'- CACACATCGATAGGATTCCATGTGG -3'
(R):5'- ATCTGAAGGTCATTCCCC -3'
|
Posted On |
2015-11-11 |