Incidental Mutation 'R4740:Fam135b'
| ID |
359649 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Fam135b
|
| Ensembl Gene |
ENSMUSG00000036800 |
| Gene Name |
family with sequence similarity 135, member B |
| Synonyms |
1700010C24Rik, A830008O07Rik |
| MMRRC Submission |
041965-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R4740 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
15 |
| Chromosomal Location |
71310800-71600282 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to T
at 71335920 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Isoleucine
at position 425
(V425I)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000022953
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000022953]
|
| AlphaFold |
Q9DAI6 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000022953
AA Change: V425I
PolyPhen 2
Score 0.009 (Sensitivity: 0.96; Specificity: 0.77)
|
| SMART Domains |
Protein: ENSMUSP00000022953
Gene: ENSMUSG00000036800
AA Change: V425I
| 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
|
| Meta Mutation Damage Score |
0.0918 |
| Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.5%
- 10x: 97.0%
- 20x: 94.8%
|
| Validation Efficiency |
100% (95/95) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 86 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 2510009E07Rik |
C |
T |
16: 21,513,146 (GRCm39) |
A4T |
probably benign |
Het |
| Aacs |
T |
C |
5: 125,583,316 (GRCm39) |
S291P |
probably damaging |
Het |
| Abcb1a |
T |
C |
5: 8,752,280 (GRCm39) |
|
probably null |
Het |
| Apol10a |
C |
T |
15: 77,372,841 (GRCm39) |
T159I |
possibly damaging |
Het |
| Arhgap5 |
A |
T |
12: 52,565,860 (GRCm39) |
M944L |
probably benign |
Het |
| Atg16l2 |
A |
G |
7: 100,946,385 (GRCm39) |
L129P |
probably damaging |
Het |
| Baiap2l2 |
T |
A |
15: 79,143,951 (GRCm39) |
Y381F |
probably benign |
Het |
| Chd6 |
A |
T |
2: 160,812,103 (GRCm39) |
D1363E |
probably benign |
Het |
| Ciao3 |
A |
T |
17: 26,000,283 (GRCm39) |
H322L |
probably damaging |
Het |
| Cir1 |
T |
C |
2: 73,142,867 (GRCm39) |
|
probably benign |
Het |
| Clec4a2 |
T |
C |
6: 123,117,622 (GRCm39) |
I180T |
probably damaging |
Het |
| Clec4d |
T |
A |
6: 123,245,072 (GRCm39) |
H117Q |
probably damaging |
Het |
| Cntnap2 |
A |
T |
6: 45,037,251 (GRCm39) |
R10W |
possibly damaging |
Het |
| Coro6 |
A |
G |
11: 77,360,025 (GRCm39) |
E362G |
possibly damaging |
Het |
| Ctr9 |
T |
A |
7: 110,634,578 (GRCm39) |
C196S |
probably benign |
Het |
| Cyp2c55 |
A |
G |
19: 39,007,173 (GRCm39) |
K190E |
probably benign |
Het |
| Dbt |
T |
C |
3: 116,332,781 (GRCm39) |
I200T |
probably damaging |
Het |
| Dnah11 |
A |
G |
12: 118,084,279 (GRCm39) |
F1242L |
probably benign |
Het |
| Dnah2 |
A |
G |
11: 69,348,868 (GRCm39) |
W2534R |
probably damaging |
Het |
| Dph7 |
T |
C |
2: 24,853,143 (GRCm39) |
S86P |
possibly damaging |
Het |
| Dpp9 |
A |
C |
17: 56,505,970 (GRCm39) |
|
probably null |
Het |
| Eif4g3 |
T |
A |
4: 137,925,408 (GRCm39) |
S1584T |
probably benign |
Het |
| Eml4 |
T |
G |
17: 83,717,459 (GRCm39) |
D10E |
probably damaging |
Het |
| Enpp1 |
A |
T |
10: 24,555,146 (GRCm39) |
C67S |
probably null |
Het |
| Epn1 |
A |
G |
7: 5,093,012 (GRCm39) |
D108G |
probably damaging |
Het |
| Eps15 |
A |
G |
4: 109,200,387 (GRCm39) |
Y2C |
probably damaging |
Het |
| Frem2 |
G |
A |
3: 53,443,240 (GRCm39) |
A2508V |
probably benign |
Het |
| Fzd3 |
T |
A |
14: 65,473,193 (GRCm39) |
M192L |
possibly damaging |
Het |
| Gls |
C |
T |
1: 52,271,947 (GRCm39) |
A69T |
probably damaging |
Het |
| Gm10051 |
T |
A |
5: 133,504,113 (GRCm39) |
|
noncoding transcript |
Het |
| Gm9271 |
A |
G |
7: 39,013,346 (GRCm39) |
|
noncoding transcript |
Het |
| Gramd1b |
T |
C |
9: 40,227,128 (GRCm39) |
|
probably null |
Het |
| Gvin-ps6 |
G |
A |
7: 106,022,782 (GRCm39) |
|
noncoding transcript |
Het |
| H2-T23 |
A |
T |
17: 36,343,016 (GRCm39) |
|
probably benign |
Het |
| H2-T5 |
T |
A |
17: 36,478,448 (GRCm39) |
I195F |
probably damaging |
Het |
| Hmbox1 |
G |
A |
14: 65,134,483 (GRCm39) |
T39I |
probably damaging |
Het |
| Hmx1 |
A |
G |
5: 35,549,115 (GRCm39) |
E136G |
probably damaging |
Het |
| Hpdl |
T |
C |
4: 116,678,221 (GRCm39) |
N80S |
probably damaging |
Het |
| Hydin |
A |
G |
8: 111,173,071 (GRCm39) |
N918S |
probably benign |
Het |
| Igkv5-37 |
T |
A |
6: 69,940,306 (GRCm39) |
S113C |
probably damaging |
Het |
| Il36rn |
T |
C |
2: 24,167,503 (GRCm39) |
|
probably benign |
Het |
| Mab21l4 |
A |
C |
1: 93,083,890 (GRCm39) |
M189R |
probably benign |
Het |
| Marco |
G |
T |
1: 120,422,499 (GRCm39) |
T61K |
probably damaging |
Het |
| Med1 |
T |
A |
11: 98,071,090 (GRCm39) |
R86* |
probably null |
Het |
| Mertk |
A |
G |
2: 128,593,914 (GRCm39) |
Y306C |
probably damaging |
Het |
| Mgat4c |
T |
C |
10: 102,224,265 (GRCm39) |
F160L |
probably damaging |
Het |
| Midn |
A |
T |
10: 79,987,238 (GRCm39) |
E88V |
probably null |
Het |
| Muc4 |
G |
A |
16: 32,596,277 (GRCm39) |
R3163H |
possibly damaging |
Het |
| Naip1 |
T |
C |
13: 100,581,034 (GRCm39) |
D71G |
possibly damaging |
Het |
| Nhlrc4 |
T |
C |
17: 26,162,577 (GRCm39) |
T57A |
probably benign |
Het |
| Nlrp1a |
T |
C |
11: 71,004,466 (GRCm39) |
|
probably null |
Het |
| Npffr2 |
A |
T |
5: 89,730,879 (GRCm39) |
K270* |
probably null |
Het |
| Or10a3 |
T |
G |
7: 108,480,689 (GRCm39) |
E41D |
probably benign |
Het |
| Or2b6 |
T |
A |
13: 21,823,340 (GRCm39) |
M118L |
possibly damaging |
Het |
| Or51e1 |
T |
A |
7: 102,359,378 (GRCm39) |
I304N |
probably damaging |
Het |
| Or8g26 |
T |
A |
9: 39,095,664 (GRCm39) |
Y60* |
probably null |
Het |
| Or8k40 |
C |
T |
2: 86,584,155 (GRCm39) |
C309Y |
probably benign |
Het |
| Otub2 |
T |
A |
12: 103,359,103 (GRCm39) |
L64Q |
probably benign |
Het |
| Pabpc4l |
C |
G |
3: 46,400,570 (GRCm39) |
G358A |
possibly damaging |
Het |
| Pabpc4l |
C |
T |
3: 46,400,579 (GRCm39) |
R355H |
probably benign |
Het |
| Parp1 |
T |
C |
1: 180,417,033 (GRCm39) |
S606P |
probably damaging |
Het |
| Pkhd1 |
A |
G |
1: 20,594,354 (GRCm39) |
V1253A |
probably benign |
Het |
| Psg29 |
G |
A |
7: 16,942,458 (GRCm39) |
R153H |
probably benign |
Het |
| Rbm25 |
A |
G |
12: 83,691,181 (GRCm39) |
M58V |
possibly damaging |
Het |
| Rbm28 |
T |
C |
6: 29,125,353 (GRCm39) |
|
probably benign |
Het |
| Ryr2 |
A |
G |
13: 11,671,933 (GRCm39) |
S3436P |
possibly damaging |
Het |
| Slc3a1 |
A |
G |
17: 85,354,181 (GRCm39) |
I335V |
probably benign |
Het |
| Slc4a4 |
T |
C |
5: 89,373,753 (GRCm39) |
F953S |
probably damaging |
Het |
| Spata20 |
A |
G |
11: 94,375,404 (GRCm39) |
I130T |
possibly damaging |
Het |
| Spata31h1 |
T |
C |
10: 82,119,481 (GRCm39) |
T4510A |
possibly damaging |
Het |
| Srcap |
T |
C |
7: 127,148,471 (GRCm39) |
S1879P |
probably damaging |
Het |
| St18 |
G |
C |
1: 6,887,828 (GRCm39) |
V466L |
probably benign |
Het |
| Stard3nl |
A |
T |
13: 19,551,948 (GRCm39) |
M166K |
probably benign |
Het |
| Stard3nl |
G |
A |
13: 19,560,736 (GRCm39) |
T13M |
probably damaging |
Het |
| Stil |
A |
G |
4: 114,863,979 (GRCm39) |
T74A |
probably benign |
Het |
| Syt6 |
T |
G |
3: 103,532,972 (GRCm39) |
M367R |
probably damaging |
Het |
| Tacc1 |
T |
C |
8: 25,672,581 (GRCm39) |
T125A |
possibly damaging |
Het |
| Tbc1d8 |
G |
A |
1: 39,441,959 (GRCm39) |
T211I |
possibly damaging |
Het |
| Tcaf1 |
A |
G |
6: 42,663,809 (GRCm39) |
S24P |
probably benign |
Het |
| Trim75 |
T |
G |
8: 65,435,199 (GRCm39) |
Y417S |
probably damaging |
Het |
| Ttll12 |
T |
C |
15: 83,464,321 (GRCm39) |
Y503C |
probably damaging |
Het |
| Ttn |
A |
T |
2: 76,641,587 (GRCm39) |
L5176Q |
possibly damaging |
Het |
| Ubqlnl |
C |
T |
7: 103,798,925 (GRCm39) |
V191M |
probably benign |
Het |
| Unc5c |
A |
T |
3: 141,522,692 (GRCm39) |
Y706F |
probably benign |
Het |
| Zfp593 |
T |
C |
4: 133,972,077 (GRCm39) |
|
probably benign |
Het |
| Zfp956 |
T |
C |
6: 47,939,476 (GRCm39) |
S175P |
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 |
|
|
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'- GAGACATTCTCCTGCACCTC -3'
(R):5'- AACATGAGTCACGTGGTTAGC -3'
Sequencing Primer
(F):5'- CTCTGGACGCCTAGTAACATC -3'
(R):5'- CTGTACATTCCCAAGTAGAAAAGG -3'
|
| Posted On |
2015-11-11 |
Incidental Mutation