Incidental Mutation 'R0010:Fam135b'
| ID |
32511 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Fam135b
|
| Ensembl Gene |
ENSMUSG00000036800 |
| Gene Name |
family with sequence similarity 135, member B |
| Synonyms |
1700010C24Rik, A830008O07Rik |
| MMRRC Submission |
038305-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R0010 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
(trace)
|
| Chromosome |
15 |
| Chromosomal Location |
71431609-71727838 bp(-) (GRCm38) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 71622032 bp (GRCm38)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Lysine to Arginine
at position 16
(K16R)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000155239
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000022953]
[ENSMUST00000229189]
|
| AlphaFold |
Q9DAI6 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000022953
AA Change: K16R
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000022953
Gene: ENSMUSG00000036800
AA Change: K16R
| 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 |
probably damaging
Transcript: ENSMUST00000229189
AA Change: K16R
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000230569
|
| Meta Mutation Damage Score |
0.1526 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.0%
- 20x: 94.9%
|
| Validation Efficiency |
100% (89/89) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 82 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adgrf3 |
T |
C |
5: 30,205,609 (GRCm38) |
|
probably benign |
Het |
| Ahrr |
G |
A |
13: 74,283,024 (GRCm38) |
|
probably benign |
Het |
| Bbs7 |
T |
C |
3: 36,607,717 (GRCm38) |
|
probably null |
Het |
| BC037034 |
T |
C |
5: 138,260,293 (GRCm38) |
|
probably null |
Het |
| Cacna1h |
T |
C |
17: 25,380,844 (GRCm38) |
K1566E |
probably damaging |
Het |
| Ccdc73 |
C |
T |
2: 104,980,987 (GRCm38) |
|
probably benign |
Het |
| Cd74 |
A |
T |
18: 60,803,896 (GRCm38) |
|
probably benign |
Het |
| Cd74 |
A |
T |
18: 60,809,071 (GRCm38) |
H124L |
probably benign |
Het |
| Cdk5rap2 |
T |
C |
4: 70,243,459 (GRCm38) |
E270G |
probably benign |
Het |
| Ces2a |
G |
A |
8: 104,741,396 (GRCm38) |
D520N |
probably benign |
Het |
| Cldnd1 |
T |
A |
16: 58,731,259 (GRCm38) |
|
probably benign |
Het |
| Cox17 |
T |
A |
16: 38,347,170 (GRCm38) |
C24S |
possibly damaging |
Het |
| Cyp2b9 |
T |
A |
7: 26,186,753 (GRCm38) |
|
probably benign |
Het |
| Dennd4a |
T |
C |
9: 64,896,715 (GRCm38) |
L1112P |
probably benign |
Het |
| Dennd4c |
T |
C |
4: 86,781,577 (GRCm38) |
S222P |
probably damaging |
Het |
| Dhx37 |
T |
A |
5: 125,431,616 (GRCm38) |
Q85L |
probably benign |
Het |
| Egfem1 |
G |
T |
3: 29,582,919 (GRCm38) |
C192F |
probably damaging |
Het |
| Eif3f |
A |
T |
7: 108,941,005 (GRCm38) |
N336Y |
possibly damaging |
Het |
| Evc2 |
T |
A |
5: 37,417,449 (GRCm38) |
L1016Q |
probably damaging |
Het |
| Fam114a2 |
G |
T |
11: 57,514,156 (GRCm38) |
T40N |
probably damaging |
Het |
| Fcho1 |
A |
G |
8: 71,709,999 (GRCm38) |
Y725H |
probably damaging |
Het |
| Frem1 |
T |
C |
4: 83,000,098 (GRCm38) |
I536V |
probably benign |
Het |
| Ginm1 |
T |
C |
10: 7,775,374 (GRCm38) |
|
probably benign |
Het |
| Glrb |
A |
T |
3: 80,860,315 (GRCm38) |
|
probably benign |
Het |
| Glt6d1 |
C |
A |
2: 25,794,727 (GRCm38) |
|
probably null |
Het |
| Gm10320 |
T |
C |
13: 98,489,546 (GRCm38) |
Y110C |
probably damaging |
Het |
| Gm20388 |
G |
A |
8: 122,270,598 (GRCm38) |
|
probably benign |
Het |
| Gm3985 |
A |
T |
8: 32,942,456 (GRCm38) |
|
noncoding transcript |
Het |
| Gm5422 |
A |
G |
10: 31,249,754 (GRCm38) |
|
noncoding transcript |
Het |
| Igkv6-29 |
A |
T |
6: 70,138,770 (GRCm38) |
|
probably benign |
Het |
| Inpp5d |
G |
A |
1: 87,697,546 (GRCm38) |
|
probably null |
Het |
| Itpr3 |
T |
G |
17: 27,120,977 (GRCm38) |
V2610G |
probably damaging |
Het |
| Kmt5c |
T |
A |
7: 4,746,208 (GRCm38) |
M88K |
probably benign |
Het |
| Lrp12 |
C |
T |
15: 39,878,276 (GRCm38) |
A367T |
probably damaging |
Het |
| Ltbp1 |
A |
G |
17: 75,363,391 (GRCm38) |
T1476A |
probably damaging |
Het |
| Mcoln2 |
C |
T |
3: 146,183,561 (GRCm38) |
T374M |
probably damaging |
Het |
| Milr1 |
T |
G |
11: 106,767,003 (GRCm38) |
*209G |
probably null |
Het |
| Mitf |
A |
G |
6: 97,807,281 (GRCm38) |
K33R |
probably benign |
Het |
| Mon2 |
A |
C |
10: 123,032,694 (GRCm38) |
S485A |
probably damaging |
Het |
| Mpdu1 |
C |
T |
11: 69,658,841 (GRCm38) |
G47R |
probably damaging |
Het |
| Ms4a4d |
A |
G |
19: 11,554,826 (GRCm38) |
N112S |
probably damaging |
Het |
| Mybpc3 |
G |
A |
2: 91,134,833 (GRCm38) |
W1082* |
probably null |
Het |
| Myl3 |
A |
C |
9: 110,767,929 (GRCm38) |
D119A |
probably damaging |
Het |
| Naa15 |
A |
T |
3: 51,436,213 (GRCm38) |
|
probably null |
Het |
| Nav3 |
A |
G |
10: 109,823,226 (GRCm38) |
|
probably benign |
Het |
| Nek7 |
T |
A |
1: 138,544,204 (GRCm38) |
Q66L |
possibly damaging |
Het |
| Nktr |
G |
A |
9: 121,741,166 (GRCm38) |
|
probably benign |
Het |
| Nlgn1 |
G |
T |
3: 25,435,842 (GRCm38) |
|
probably benign |
Het |
| Npr1 |
T |
C |
3: 90,454,832 (GRCm38) |
E1002G |
probably damaging |
Het |
| Nup133 |
A |
T |
8: 123,904,579 (GRCm38) |
I1072N |
probably damaging |
Het |
| Oc90 |
C |
T |
15: 65,876,548 (GRCm38) |
C371Y |
probably damaging |
Het |
| Olfr835 |
A |
T |
9: 19,035,322 (GRCm38) |
L66F |
probably damaging |
Het |
| Olfr901 |
A |
T |
9: 38,430,920 (GRCm38) |
I213F |
possibly damaging |
Het |
| Olfr994 |
A |
T |
2: 85,429,895 (GRCm38) |
D311E |
probably benign |
Het |
| Pradc1 |
A |
T |
6: 85,447,231 (GRCm38) |
N44K |
probably damaging |
Het |
| Pradc1 |
T |
C |
6: 85,447,620 (GRCm38) |
D116G |
probably damaging |
Het |
| Ptprk |
G |
A |
10: 28,585,969 (GRCm38) |
C91Y |
probably damaging |
Het |
| Pus7 |
T |
C |
5: 23,747,845 (GRCm38) |
I491V |
probably benign |
Het |
| Rock1 |
T |
A |
18: 10,084,380 (GRCm38) |
D951V |
probably damaging |
Het |
| Scgb2b26 |
T |
A |
7: 33,944,349 (GRCm38) |
E55D |
probably damaging |
Het |
| Scn8a |
T |
C |
15: 101,013,573 (GRCm38) |
V958A |
probably damaging |
Het |
| Sec14l1 |
T |
C |
11: 117,143,770 (GRCm38) |
|
probably benign |
Het |
| Sec24c |
A |
G |
14: 20,689,261 (GRCm38) |
|
probably benign |
Het |
| Sema6b |
C |
T |
17: 56,124,105 (GRCm38) |
E853K |
probably benign |
Het |
| Sgk1 |
G |
A |
10: 21,997,438 (GRCm38) |
|
probably null |
Het |
| Shprh |
C |
T |
10: 11,151,931 (GRCm38) |
T94I |
probably benign |
Het |
| Slc16a3 |
T |
C |
11: 120,956,705 (GRCm38) |
S240P |
probably benign |
Het |
| Slc5a8 |
T |
C |
10: 88,886,590 (GRCm38) |
V95A |
probably benign |
Het |
| Smg1 |
A |
T |
7: 118,171,859 (GRCm38) |
|
probably benign |
Het |
| Spta1 |
G |
A |
1: 174,217,943 (GRCm38) |
V1556I |
probably benign |
Het |
| Svs1 |
A |
T |
6: 48,988,906 (GRCm38) |
H616L |
probably damaging |
Het |
| Trappc4 |
G |
A |
9: 44,405,231 (GRCm38) |
|
probably benign |
Het |
| Tubgcp6 |
A |
G |
15: 89,103,183 (GRCm38) |
S1188P |
probably benign |
Het |
| Txlna |
T |
G |
4: 129,629,086 (GRCm38) |
D487A |
probably benign |
Het |
| Ube2d2b |
T |
C |
5: 107,830,636 (GRCm38) |
F51S |
possibly damaging |
Het |
| Vmn2r6 |
G |
A |
3: 64,559,545 (GRCm38) |
Q178* |
probably null |
Het |
| Wdfy3 |
T |
C |
5: 101,848,349 (GRCm38) |
T3234A |
probably damaging |
Het |
| Ylpm1 |
C |
A |
12: 85,029,026 (GRCm38) |
Q384K |
probably damaging |
Het |
| Zbtb41 |
T |
G |
1: 139,423,530 (GRCm38) |
V127G |
probably damaging |
Het |
| Zfp605 |
T |
A |
5: 110,127,534 (GRCm38) |
C173S |
probably benign |
Het |
| Zfp608 |
A |
T |
18: 54,895,214 (GRCm38) |
|
probably benign |
Het |
| Zhx2 |
T |
C |
15: 57,821,274 (GRCm38) |
V13A |
possibly damaging |
Het |
|
| Other mutations in Fam135b |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00088:Fam135b
|
APN |
15 |
71,450,494 (GRCm38) |
missense |
probably damaging |
1.00 |
|
IGL00565:Fam135b
|
APN |
15 |
71,471,512 (GRCm38) |
missense |
probably benign |
|
|
IGL00645:Fam135b
|
APN |
15 |
71,462,546 (GRCm38) |
missense |
probably damaging |
1.00 |
|
IGL00686:Fam135b
|
APN |
15 |
71,462,319 (GRCm38) |
missense |
probably benign |
0.00 |
|
IGL00857:Fam135b
|
APN |
15 |
71,463,616 (GRCm38) |
missense |
probably benign |
0.16 |
|
IGL01443:Fam135b
|
APN |
15 |
71,463,364 (GRCm38) |
missense |
probably benign |
0.02 |
|
IGL01690:Fam135b
|
APN |
15 |
71,456,935 (GRCm38) |
missense |
probably benign |
0.19 |
|
IGL01920:Fam135b
|
APN |
15 |
71,622,036 (GRCm38) |
missense |
possibly damaging |
0.94 |
|
IGL01987:Fam135b
|
APN |
15 |
71,462,115 (GRCm38) |
missense |
probably benign |
|
|
IGL02154:Fam135b
|
APN |
15 |
71,448,710 (GRCm38) |
missense |
probably benign |
0.12 |
|
IGL03107:Fam135b
|
APN |
15 |
71,463,561 (GRCm38) |
missense |
probably benign |
|
|
IGL03264:Fam135b
|
APN |
15 |
71,462,788 (GRCm38) |
missense |
probably benign |
|
|
IGL03055:Fam135b
|
UTSW |
15 |
71,622,034 (GRCm38) |
missense |
possibly damaging |
0.51 |
|
R0010:Fam135b
|
UTSW |
15 |
71,622,032 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R0230:Fam135b
|
UTSW |
15 |
71,446,037 (GRCm38) |
missense |
probably benign |
0.02 |
|
R0413:Fam135b
|
UTSW |
15 |
71,463,821 (GRCm38) |
missense |
probably benign |
0.45 |
|
R0524:Fam135b
|
UTSW |
15 |
71,462,284 (GRCm38) |
missense |
probably benign |
0.00 |
|
R0565:Fam135b
|
UTSW |
15 |
71,490,837 (GRCm38) |
missense |
possibly damaging |
0.88 |
|
R0628:Fam135b
|
UTSW |
15 |
71,448,656 (GRCm38) |
splice site |
probably benign |
|
|
R1415:Fam135b
|
UTSW |
15 |
71,456,928 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R1462:Fam135b
|
UTSW |
15 |
71,621,996 (GRCm38) |
splice site |
probably benign |
|
|
R1701:Fam135b
|
UTSW |
15 |
71,459,729 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R1797:Fam135b
|
UTSW |
15 |
71,452,441 (GRCm38) |
missense |
probably benign |
0.41 |
|
R1807:Fam135b
|
UTSW |
15 |
71,463,912 (GRCm38) |
missense |
probably benign |
|
|
R1835:Fam135b
|
UTSW |
15 |
71,490,711 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R1905:Fam135b
|
UTSW |
15 |
71,532,987 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R1937:Fam135b
|
UTSW |
15 |
71,622,014 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R1998:Fam135b
|
UTSW |
15 |
71,452,404 (GRCm38) |
missense |
probably damaging |
0.98 |
|
R2076:Fam135b
|
UTSW |
15 |
71,478,243 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R2518:Fam135b
|
UTSW |
15 |
71,463,911 (GRCm38) |
missense |
probably benign |
0.00 |
|
R3110:Fam135b
|
UTSW |
15 |
71,464,030 (GRCm38) |
missense |
probably benign |
0.05 |
|
R3112:Fam135b
|
UTSW |
15 |
71,464,030 (GRCm38) |
missense |
probably benign |
0.05 |
|
R3932:Fam135b
|
UTSW |
15 |
71,450,431 (GRCm38) |
missense |
probably benign |
0.29 |
|
R4361:Fam135b
|
UTSW |
15 |
71,490,827 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R4397:Fam135b
|
UTSW |
15 |
71,448,676 (GRCm38) |
missense |
probably benign |
0.17 |
|
R4435:Fam135b
|
UTSW |
15 |
71,448,739 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R4645:Fam135b
|
UTSW |
15 |
71,462,340 (GRCm38) |
missense |
probably benign |
|
|
R4740:Fam135b
|
UTSW |
15 |
71,464,071 (GRCm38) |
missense |
probably benign |
0.01 |
|
R4748:Fam135b
|
UTSW |
15 |
71,464,055 (GRCm38) |
missense |
probably benign |
0.00 |
|
R4754:Fam135b
|
UTSW |
15 |
71,462,951 (GRCm38) |
missense |
probably benign |
0.01 |
|
R5044:Fam135b
|
UTSW |
15 |
71,462,711 (GRCm38) |
missense |
probably benign |
0.02 |
|
R5469:Fam135b
|
UTSW |
15 |
71,446,043 (GRCm38) |
missense |
probably benign |
0.16 |
|
R5617:Fam135b
|
UTSW |
15 |
71,622,016 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R5642:Fam135b
|
UTSW |
15 |
71,462,136 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R5778:Fam135b
|
UTSW |
15 |
71,479,032 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R5891:Fam135b
|
UTSW |
15 |
71,525,803 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R5958:Fam135b
|
UTSW |
15 |
71,462,895 (GRCm38) |
missense |
|
|
|
R5982:Fam135b
|
UTSW |
15 |
71,448,669 (GRCm38) |
critical splice donor site |
probably null |
|
|
R5987:Fam135b
|
UTSW |
15 |
71,490,848 (GRCm38) |
missense |
probably benign |
0.00 |
|
R6535:Fam135b
|
UTSW |
15 |
71,622,075 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R6734:Fam135b
|
UTSW |
15 |
71,462,780 (GRCm38) |
missense |
probably benign |
0.02 |
|
R6887:Fam135b
|
UTSW |
15 |
71,463,315 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R7028:Fam135b
|
UTSW |
15 |
71,471,563 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R7035:Fam135b
|
UTSW |
15 |
71,462,253 (GRCm38) |
missense |
possibly damaging |
0.77 |
|
R7097:Fam135b
|
UTSW |
15 |
71,622,068 (GRCm38) |
missense |
possibly damaging |
0.92 |
|
R7143:Fam135b
|
UTSW |
15 |
71,479,151 (GRCm38) |
missense |
probably benign |
0.44 |
|
R7414:Fam135b
|
UTSW |
15 |
71,478,256 (GRCm38) |
missense |
probably damaging |
0.97 |
|
R7439:Fam135b
|
UTSW |
15 |
71,463,680 (GRCm38) |
missense |
probably damaging |
0.98 |
|
R7441:Fam135b
|
UTSW |
15 |
71,463,680 (GRCm38) |
missense |
probably damaging |
0.98 |
|
R7545:Fam135b
|
UTSW |
15 |
71,450,510 (GRCm38) |
missense |
possibly damaging |
0.95 |
|
R7615:Fam135b
|
UTSW |
15 |
71,463,323 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R7642:Fam135b
|
UTSW |
15 |
71,479,142 (GRCm38) |
missense |
possibly damaging |
0.51 |
|
R7649:Fam135b
|
UTSW |
15 |
71,462,580 (GRCm38) |
missense |
probably benign |
0.00 |
|
R7686:Fam135b
|
UTSW |
15 |
71,463,384 (GRCm38) |
missense |
possibly damaging |
0.68 |
|
R7866:Fam135b
|
UTSW |
15 |
71,462,076 (GRCm38) |
missense |
probably benign |
0.00 |
|
R8006:Fam135b
|
UTSW |
15 |
71,462,334 (GRCm38) |
missense |
probably benign |
0.00 |
|
R8068:Fam135b
|
UTSW |
15 |
71,532,978 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R8167:Fam135b
|
UTSW |
15 |
71,532,991 (GRCm38) |
missense |
probably null |
1.00 |
|
R8252:Fam135b
|
UTSW |
15 |
71,533,023 (GRCm38) |
missense |
probably benign |
0.10 |
|
R8548:Fam135b
|
UTSW |
15 |
71,462,810 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R8833:Fam135b
|
UTSW |
15 |
71,462,934 (GRCm38) |
missense |
probably benign |
0.04 |
|
R8955:Fam135b
|
UTSW |
15 |
71,462,214 (GRCm38) |
missense |
possibly damaging |
0.85 |
|
R8961:Fam135b
|
UTSW |
15 |
71,532,963 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R8987:Fam135b
|
UTSW |
15 |
71,462,340 (GRCm38) |
missense |
probably benign |
0.00 |
|
R9149:Fam135b
|
UTSW |
15 |
71,462,895 (GRCm38) |
missense |
|
|
|
R9161:Fam135b
|
UTSW |
15 |
71,462,568 (GRCm38) |
missense |
possibly damaging |
0.91 |
|
R9227:Fam135b
|
UTSW |
15 |
71,464,007 (GRCm38) |
missense |
probably benign |
0.28 |
|
R9230:Fam135b
|
UTSW |
15 |
71,464,007 (GRCm38) |
missense |
probably benign |
0.28 |
|
R9365:Fam135b
|
UTSW |
15 |
71,462,964 (GRCm38) |
missense |
probably benign |
0.00 |
|
R9622:Fam135b
|
UTSW |
15 |
71,525,837 (GRCm38) |
missense |
probably damaging |
0.98 |
|
R9758:Fam135b
|
UTSW |
15 |
71,452,350 (GRCm38) |
missense |
probably benign |
0.28 |
|
R9759:Fam135b
|
UTSW |
15 |
71,463,840 (GRCm38) |
missense |
probably benign |
0.44 |
|
T0722:Fam135b
|
UTSW |
15 |
71,463,885 (GRCm38) |
missense |
probably damaging |
1.00 |
|
T0975:Fam135b
|
UTSW |
15 |
71,463,885 (GRCm38) |
missense |
probably damaging |
1.00 |
|
Z1177:Fam135b
|
UTSW |
15 |
71,622,076 (GRCm38) |
start codon destroyed |
probably null |
0.06 |
|
| Predicted Primers |
PCR Primer
(F):5'- GCATAAACCTTCCATCTGCAAACTCACT -3'
(R):5'- GGTCTTGCCCATCTAAGCATTGCTA -3'
Sequencing Primer
(F):5'- GGATGAAGGAAATTAGCTCTTAGTC -3'
(R):5'- GCCCATCTAAGCATTGCTAAGTTG -3'
|
| Posted On |
2013-05-09 |
Incidental Mutation