Incidental Mutation 'R0565:Fam135b'
| ID |
46154 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Fam135b
|
| Ensembl Gene |
ENSMUSG00000036800 |
| Gene Name |
family with sequence similarity 135, member B |
| Synonyms |
1700010C24Rik, A830008O07Rik |
| MMRRC Submission |
038756-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R0565 (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 71362686 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Asparagine to Tyrosine
at position 232
(N232Y)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000022953
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000022953]
|
| AlphaFold |
Q9DAI6 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000022953
AA Change: N232Y
PolyPhen 2
Score 0.881 (Sensitivity: 0.82; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000022953
Gene: ENSMUSG00000036800
AA Change: N232Y
| 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: ENSMUST00000230569
|
| Meta Mutation Damage Score |
0.0667 |
| Coding Region Coverage |
- 1x: 99.6%
- 3x: 98.8%
- 10x: 96.8%
- 20x: 93.6%
|
| Validation Efficiency |
100% (73/73) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 71 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4930562C15Rik |
A |
T |
16: 4,682,200 (GRCm39) |
H1010L |
probably benign |
Het |
| A2ml1 |
C |
A |
6: 128,545,706 (GRCm39) |
E474* |
probably null |
Het |
| Agtr1b |
T |
C |
3: 20,369,838 (GRCm39) |
H256R |
probably damaging |
Het |
| Amacr |
C |
T |
15: 10,982,032 (GRCm39) |
A46V |
possibly damaging |
Het |
| Atosb |
A |
T |
4: 43,034,647 (GRCm39) |
|
probably benign |
Het |
| Cabp5 |
A |
T |
7: 13,135,260 (GRCm39) |
M67L |
probably damaging |
Het |
| Caskin2 |
T |
C |
11: 115,691,842 (GRCm39) |
E981G |
probably damaging |
Het |
| Ccdc88a |
A |
G |
11: 29,411,042 (GRCm39) |
|
probably benign |
Het |
| Cd180 |
A |
G |
13: 102,839,382 (GRCm39) |
|
probably benign |
Het |
| Cd200l1 |
T |
A |
16: 45,264,536 (GRCm39) |
|
probably benign |
Het |
| Cemip |
G |
A |
7: 83,613,318 (GRCm39) |
H627Y |
probably damaging |
Het |
| Cep131 |
G |
T |
11: 119,964,588 (GRCm39) |
H289Q |
probably damaging |
Het |
| Cep350 |
G |
A |
1: 155,836,941 (GRCm39) |
|
probably benign |
Het |
| Cfap52 |
A |
T |
11: 67,840,425 (GRCm39) |
C169S |
probably benign |
Het |
| Cps1 |
A |
T |
1: 67,205,608 (GRCm39) |
T544S |
possibly damaging |
Het |
| Cul7 |
T |
C |
17: 46,962,929 (GRCm39) |
S187P |
probably damaging |
Het |
| Dhx40 |
C |
A |
11: 86,661,993 (GRCm39) |
R688L |
probably damaging |
Het |
| E330034G19Rik |
C |
A |
14: 24,356,985 (GRCm39) |
Q174K |
probably benign |
Het |
| Efna5 |
T |
C |
17: 63,188,031 (GRCm39) |
Y32C |
probably damaging |
Het |
| Ethe1 |
A |
G |
7: 24,307,314 (GRCm39) |
H176R |
probably benign |
Het |
| Exoc3 |
A |
G |
13: 74,330,394 (GRCm39) |
|
probably null |
Het |
| Fndc9 |
C |
T |
11: 46,128,984 (GRCm39) |
L168F |
probably damaging |
Het |
| Fpr-rs3 |
G |
A |
17: 20,844,283 (GRCm39) |
A286V |
probably damaging |
Het |
| Immt |
T |
A |
6: 71,823,467 (GRCm39) |
|
probably benign |
Het |
| Ipo7 |
T |
C |
7: 109,648,800 (GRCm39) |
|
probably benign |
Het |
| Ipo8 |
A |
T |
6: 148,688,221 (GRCm39) |
L747H |
probably damaging |
Het |
| Ireb2 |
A |
T |
9: 54,807,267 (GRCm39) |
N610Y |
probably damaging |
Het |
| Irs2 |
A |
G |
8: 11,054,592 (GRCm39) |
V1280A |
probably damaging |
Het |
| Kcnj3 |
T |
A |
2: 55,485,276 (GRCm39) |
M458K |
probably benign |
Het |
| Kl |
A |
G |
5: 150,904,409 (GRCm39) |
K387R |
possibly damaging |
Het |
| L3mbtl2 |
C |
A |
15: 81,568,487 (GRCm39) |
|
probably benign |
Het |
| Lamb1 |
A |
C |
12: 31,348,914 (GRCm39) |
I649L |
probably benign |
Het |
| Lipm |
A |
C |
19: 34,093,906 (GRCm39) |
L274F |
probably benign |
Het |
| Lrfn3 |
A |
G |
7: 30,060,216 (GRCm39) |
V3A |
probably benign |
Het |
| Lrrc8c |
A |
C |
5: 105,754,894 (GRCm39) |
D223A |
probably damaging |
Het |
| Ltn1 |
C |
A |
16: 87,212,898 (GRCm39) |
K554N |
probably benign |
Het |
| Mertk |
T |
C |
2: 128,613,403 (GRCm39) |
I473T |
probably benign |
Het |
| Mfsd12 |
C |
A |
10: 81,197,243 (GRCm39) |
N245K |
probably benign |
Het |
| Mmp16 |
A |
G |
4: 17,987,705 (GRCm39) |
D89G |
probably damaging |
Het |
| Myo5a |
T |
A |
9: 75,087,394 (GRCm39) |
N1083K |
probably benign |
Het |
| Ncapd3 |
C |
T |
9: 26,999,294 (GRCm39) |
A1290V |
probably benign |
Het |
| Nefm |
A |
G |
14: 68,362,070 (GRCm39) |
S65P |
probably damaging |
Het |
| Nt5c2 |
C |
T |
19: 46,886,064 (GRCm39) |
R220H |
probably damaging |
Het |
| Or4c102 |
T |
A |
2: 88,422,353 (GRCm39) |
D68E |
probably benign |
Het |
| Osbpl1a |
A |
T |
18: 12,892,501 (GRCm39) |
S438R |
probably damaging |
Het |
| Pcdhb5 |
T |
C |
18: 37,453,820 (GRCm39) |
S67P |
possibly damaging |
Het |
| Per3 |
A |
T |
4: 151,118,409 (GRCm39) |
I228N |
probably damaging |
Het |
| Pnpla7 |
T |
G |
2: 24,870,129 (GRCm39) |
|
probably benign |
Het |
| Ppp1r15b |
G |
T |
1: 133,064,391 (GRCm39) |
|
probably benign |
Het |
| Psmd2 |
G |
T |
16: 20,479,176 (GRCm39) |
L678F |
probably null |
Het |
| Ptch2 |
A |
G |
4: 116,963,340 (GRCm39) |
|
probably benign |
Het |
| Ranbp2 |
T |
A |
10: 58,312,158 (GRCm39) |
D959E |
probably benign |
Het |
| Rph3al |
C |
T |
11: 75,724,227 (GRCm39) |
|
probably null |
Het |
| Sec31b |
T |
A |
19: 44,512,992 (GRCm39) |
E499V |
probably damaging |
Het |
| Sel1l |
T |
C |
12: 91,778,663 (GRCm39) |
I667M |
probably benign |
Het |
| Sel1l |
C |
A |
12: 91,780,719 (GRCm39) |
V641L |
possibly damaging |
Het |
| Slc7a1 |
T |
A |
5: 148,288,879 (GRCm39) |
I123F |
probably damaging |
Het |
| Smarca2 |
G |
A |
19: 26,659,275 (GRCm39) |
R855Q |
possibly damaging |
Het |
| Sphk1 |
G |
T |
11: 116,427,184 (GRCm39) |
|
probably benign |
Het |
| Spink12 |
C |
A |
18: 44,237,755 (GRCm39) |
S11* |
probably null |
Het |
| Sstr2 |
A |
T |
11: 113,516,445 (GRCm39) |
I342F |
probably benign |
Het |
| Stxbp1 |
T |
C |
2: 32,709,860 (GRCm39) |
T78A |
probably benign |
Het |
| Trim11 |
T |
A |
11: 58,881,410 (GRCm39) |
S434R |
probably damaging |
Het |
| Ubr2 |
T |
C |
17: 47,266,812 (GRCm39) |
E1113G |
probably damaging |
Het |
| Upb1 |
T |
A |
10: 75,264,188 (GRCm39) |
|
probably benign |
Het |
| Vit |
T |
A |
17: 78,932,266 (GRCm39) |
C458S |
probably damaging |
Het |
| Vmn1r58 |
T |
C |
7: 5,414,165 (GRCm39) |
I22V |
probably benign |
Het |
| Vps25 |
T |
C |
11: 101,149,731 (GRCm39) |
|
probably benign |
Het |
| Wbp2 |
G |
T |
11: 115,973,211 (GRCm39) |
D65E |
possibly damaging |
Het |
| Wdr72 |
A |
G |
9: 74,124,588 (GRCm39) |
D980G |
probably benign |
Het |
| Xkr8 |
A |
C |
4: 132,458,228 (GRCm39) |
|
probably null |
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 |
|
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 |
|
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'- AGCTCCTGGAAGGAGACTTCTCTG -3'
(R):5'- TGGGCACATCAGCACTAAGCAC -3'
Sequencing Primer
(F):5'- GAAGGAGACTTCTCTGCTCCTATC -3'
(R):5'- CAGTGCTTTCTATAAGAACCAGGG -3'
|
| Posted On |
2013-06-11 |
Incidental Mutation