Incidental Mutation 'R7686:Fam135b'
ID |
593118 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Fam135b
|
Ensembl Gene |
ENSMUSG00000036800 |
Gene Name |
family with sequence similarity 135, member B |
Synonyms |
1700010C24Rik, A830008O07Rik |
MMRRC Submission |
045751-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R7686 (G1)
|
Quality Score |
225.009 |
Status
|
Validated
|
Chromosome |
15 |
Chromosomal Location |
71310800-71600282 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 71335233 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Lysine to Glutamic Acid
at position 654
(K654E)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000022953
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000022953]
|
AlphaFold |
Q9DAI6 |
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000022953
AA Change: K654E
PolyPhen 2
Score 0.675 (Sensitivity: 0.86; Specificity: 0.92)
|
SMART Domains |
Protein: ENSMUSP00000022953 Gene: ENSMUSG00000036800 AA Change: K654E
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 |
|
Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.7%
- 20x: 99.1%
|
Validation Efficiency |
100% (78/78) |
Allele List at MGI |
|
Other mutations in this stock |
Total: 79 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Acadl |
A |
T |
1: 66,887,557 (GRCm39) |
|
probably null |
Het |
Adgrg5 |
A |
T |
8: 95,664,430 (GRCm39) |
I347F |
|
Het |
Agmo |
T |
C |
12: 37,469,973 (GRCm39) |
V431A |
probably benign |
Het |
Arl14epl |
A |
G |
18: 47,065,523 (GRCm39) |
D96G |
probably damaging |
Het |
Asxl1 |
C |
T |
2: 153,233,534 (GRCm39) |
S113F |
probably damaging |
Het |
Axdnd1 |
A |
T |
1: 156,223,034 (GRCm39) |
C81* |
probably null |
Het |
Bloc1s3 |
C |
T |
7: 19,241,531 (GRCm39) |
|
probably benign |
Het |
Bmper |
C |
G |
9: 23,310,840 (GRCm39) |
L425V |
probably benign |
Het |
Bok |
A |
T |
1: 93,622,822 (GRCm39) |
T194S |
probably benign |
Het |
Bpifa5 |
A |
T |
2: 154,007,432 (GRCm39) |
I125L |
probably benign |
Het |
Brcc3dc |
T |
C |
10: 108,535,301 (GRCm39) |
E218G |
probably damaging |
Het |
Brd10 |
A |
T |
19: 29,694,870 (GRCm39) |
I1541N |
probably benign |
Het |
Brpf3 |
T |
C |
17: 29,025,908 (GRCm39) |
I327T |
probably damaging |
Het |
Camk1 |
T |
A |
6: 113,313,158 (GRCm39) |
N297Y |
probably damaging |
Het |
Catsper2 |
C |
T |
2: 121,227,937 (GRCm39) |
|
probably null |
Het |
Ccdc171 |
A |
T |
4: 83,575,556 (GRCm39) |
N480I |
unknown |
Het |
Cd83 |
A |
G |
13: 43,938,848 (GRCm39) |
M22V |
probably benign |
Het |
Col1a2 |
A |
G |
6: 4,518,964 (GRCm39) |
D243G |
unknown |
Het |
Crat |
C |
T |
2: 30,294,577 (GRCm39) |
R497Q |
probably benign |
Het |
Ctla4 |
A |
T |
1: 60,951,752 (GRCm39) |
T94S |
probably benign |
Het |
Cyp2b19 |
T |
C |
7: 26,461,768 (GRCm39) |
F196S |
probably damaging |
Het |
Dhx32 |
A |
T |
7: 133,361,430 (GRCm39) |
M1K |
probably null |
Het |
Epha3 |
T |
A |
16: 63,593,651 (GRCm39) |
I146F |
probably damaging |
Het |
Erbb2 |
T |
A |
11: 98,326,399 (GRCm39) |
S1008T |
probably benign |
Het |
Esp34 |
A |
G |
17: 38,870,534 (GRCm39) |
R143G |
possibly damaging |
Het |
Fgr |
T |
C |
4: 132,725,324 (GRCm39) |
M343T |
probably benign |
Het |
Fibcd1 |
T |
G |
2: 31,723,880 (GRCm39) |
D253A |
probably damaging |
Het |
Foxk1 |
C |
T |
5: 142,387,625 (GRCm39) |
S116L |
probably damaging |
Het |
Gimap8 |
G |
A |
6: 48,633,006 (GRCm39) |
G275E |
probably damaging |
Het |
Glp1r |
T |
C |
17: 31,144,633 (GRCm39) |
Y269H |
probably damaging |
Het |
H2ac20 |
T |
C |
3: 96,127,886 (GRCm39) |
E92G |
probably damaging |
Het |
Lbr |
A |
G |
1: 181,645,086 (GRCm39) |
F522S |
probably damaging |
Het |
Lca5 |
T |
C |
9: 83,277,292 (GRCm39) |
N684S |
probably benign |
Het |
Leng8 |
C |
A |
7: 4,146,504 (GRCm39) |
S372* |
probably null |
Het |
Lrp2 |
A |
G |
2: 69,319,581 (GRCm39) |
Y1981H |
probably damaging |
Het |
Lrrc37a |
T |
G |
11: 103,389,062 (GRCm39) |
Q2121P |
unknown |
Het |
Lrrn2 |
A |
G |
1: 132,866,332 (GRCm39) |
T466A |
probably benign |
Het |
Map3k19 |
A |
T |
1: 127,749,985 (GRCm39) |
L1122* |
probably null |
Het |
Mfsd6 |
T |
C |
1: 52,701,554 (GRCm39) |
E632G |
probably benign |
Het |
Mfsd6l |
C |
T |
11: 68,448,052 (GRCm39) |
A301V |
probably benign |
Het |
Mro |
A |
T |
18: 74,010,510 (GRCm39) |
M197L |
probably benign |
Het |
Ncam2 |
A |
T |
16: 81,418,342 (GRCm39) |
E799V |
probably damaging |
Het |
Nek9 |
A |
T |
12: 85,350,433 (GRCm39) |
D880E |
probably benign |
Het |
Ntng1 |
T |
A |
3: 109,842,330 (GRCm39) |
I148L |
possibly damaging |
Het |
Or1ad6 |
A |
G |
11: 50,860,582 (GRCm39) |
T246A |
possibly damaging |
Het |
Or5ac23 |
T |
A |
16: 59,149,379 (GRCm39) |
R164S |
probably damaging |
Het |
P2ry13 |
C |
T |
3: 59,117,439 (GRCm39) |
G113D |
probably damaging |
Het |
Pnpt1 |
A |
T |
11: 29,107,070 (GRCm39) |
T687S |
probably damaging |
Het |
Pou2af1 |
T |
C |
9: 51,149,486 (GRCm39) |
Y193H |
probably damaging |
Het |
Ppp1r14c |
T |
A |
10: 3,413,396 (GRCm39) |
I143N |
probably damaging |
Het |
Ppp1r16a |
A |
T |
15: 76,578,783 (GRCm39) |
S496C |
probably benign |
Het |
Prdm12 |
G |
A |
2: 31,530,229 (GRCm39) |
R40Q |
probably damaging |
Het |
Rabepk |
C |
T |
2: 34,669,308 (GRCm39) |
G362S |
probably damaging |
Het |
Rftn1 |
G |
T |
17: 50,354,408 (GRCm39) |
A318D |
probably damaging |
Het |
Rnf26rt |
A |
T |
6: 76,474,013 (GRCm39) |
L201H |
probably damaging |
Het |
Robo2 |
C |
A |
16: 73,755,293 (GRCm39) |
V743F |
probably damaging |
Het |
Scart1 |
T |
A |
7: 139,802,116 (GRCm39) |
C148* |
probably null |
Het |
Scart2 |
A |
G |
7: 139,828,965 (GRCm39) |
N208S |
probably benign |
Het |
Smg1 |
A |
T |
7: 117,767,081 (GRCm39) |
Y1804N |
unknown |
Het |
Ssh2 |
A |
G |
11: 77,316,150 (GRCm39) |
E257G |
possibly damaging |
Het |
Stoml3 |
T |
C |
3: 53,410,589 (GRCm39) |
I101T |
probably damaging |
Het |
Stxbp5 |
T |
C |
10: 9,645,154 (GRCm39) |
D950G |
probably damaging |
Het |
Syt10 |
T |
C |
15: 89,698,360 (GRCm39) |
D328G |
probably damaging |
Het |
Taf3 |
T |
C |
2: 9,956,299 (GRCm39) |
K623E |
probably damaging |
Het |
Tas2r134 |
T |
A |
2: 51,518,255 (GRCm39) |
S245T |
possibly damaging |
Het |
Tfap2b |
G |
C |
1: 19,284,511 (GRCm39) |
D140H |
probably damaging |
Het |
Tjp3 |
C |
T |
10: 81,113,885 (GRCm39) |
V458I |
probably benign |
Het |
Tnpo3 |
G |
T |
6: 29,562,899 (GRCm39) |
S606* |
probably null |
Het |
Tram1l1 |
T |
C |
3: 124,114,959 (GRCm39) |
F40L |
probably benign |
Het |
Ttc29 |
A |
T |
8: 79,119,759 (GRCm39) |
T464S |
probably benign |
Het |
Txndc9 |
A |
T |
1: 38,026,849 (GRCm39) |
M192K |
probably benign |
Het |
Urb2 |
C |
A |
8: 124,771,911 (GRCm39) |
A1444E |
probably benign |
Het |
Uty |
G |
A |
Y: 1,158,075 (GRCm39) |
T657I |
possibly damaging |
Het |
Vmn1r1 |
A |
T |
1: 181,985,590 (GRCm39) |
V25D |
probably damaging |
Het |
Vmn2r65 |
A |
T |
7: 84,589,744 (GRCm39) |
I724N |
probably damaging |
Het |
Xkr6 |
C |
T |
14: 63,844,295 (GRCm39) |
T106M |
possibly damaging |
Het |
Zc3h18 |
G |
A |
8: 123,140,615 (GRCm39) |
R850Q |
unknown |
Het |
Zfp341 |
A |
G |
2: 154,466,781 (GRCm39) |
E50G |
probably damaging |
Het |
Zfp62 |
C |
A |
11: 49,107,985 (GRCm39) |
A692E |
probably 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 |
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 |
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'- AAAGAGTTCCTGTGGTGCGC -3'
(R):5'- CCAAGCAAAGTTGTAGCAGG -3'
Sequencing Primer
(F):5'- CTGATGTAAGACGTCACGATCACTG -3'
(R):5'- TAGCAGGAACAAGCCAGAATAATTC -3'
|
Posted On |
2019-11-12 |