Incidental Mutation 'R5982:Fam135b'
| ID |
481493 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Fam135b
|
| Ensembl Gene |
ENSMUSG00000036800 |
| Gene Name |
family with sequence similarity 135, member B |
| Synonyms |
1700010C24Rik, A830008O07Rik |
| MMRRC Submission |
044163-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R5982 (G1)
|
| Quality Score |
211.009 |
|
Status
|
Validated
|
| Chromosome |
15 |
| Chromosomal Location |
71310800-71600282 bp(-) (GRCm39) |
| Type of Mutation |
critical splice donor site (2 bp from exon) |
| DNA Base Change (assembly) |
A to G
at 71320518 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000022953
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000022953]
|
| AlphaFold |
Q9DAI6 |
| Predicted Effect |
probably null
Transcript: ENSMUST00000022953
|
| SMART Domains |
Protein: ENSMUSP00000022953
Gene: ENSMUSG00000036800
| 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 |
0.9489 |
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.5%
- 10x: 97.5%
- 20x: 92.2%
|
| Validation Efficiency |
98% (81/83) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 81 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca8b |
T |
A |
11: 109,844,423 (GRCm39) |
E931D |
possibly damaging |
Het |
| Aebp1 |
C |
T |
11: 5,817,911 (GRCm39) |
T62I |
possibly damaging |
Het |
| Babam2 |
A |
T |
5: 31,977,964 (GRCm39) |
E139V |
possibly damaging |
Het |
| Bclaf1 |
C |
T |
10: 20,198,809 (GRCm39) |
R67* |
probably null |
Het |
| Bcr |
C |
A |
10: 75,012,248 (GRCm39) |
T51K |
probably benign |
Het |
| Best3 |
T |
A |
10: 116,840,322 (GRCm39) |
C251S |
probably damaging |
Het |
| Birc6 |
A |
G |
17: 74,955,153 (GRCm39) |
M3457V |
probably benign |
Het |
| C87436 |
C |
A |
6: 86,422,957 (GRCm39) |
T177K |
possibly damaging |
Het |
| Cabin1 |
T |
A |
10: 75,561,394 (GRCm39) |
T1036S |
probably benign |
Het |
| Catsperg2 |
C |
A |
7: 29,412,442 (GRCm39) |
V383L |
possibly damaging |
Het |
| Ccdc182 |
C |
T |
11: 88,185,165 (GRCm39) |
Q82* |
probably null |
Het |
| Ccl9 |
T |
C |
11: 83,466,700 (GRCm39) |
T76A |
probably damaging |
Het |
| Cdc16 |
G |
T |
8: 13,831,399 (GRCm39) |
C544F |
possibly damaging |
Het |
| Cdh18 |
A |
C |
15: 23,474,302 (GRCm39) |
D724A |
possibly damaging |
Het |
| Cdip1 |
G |
A |
16: 4,587,946 (GRCm39) |
P6S |
probably damaging |
Het |
| Col12a1 |
A |
G |
9: 79,537,842 (GRCm39) |
V2542A |
probably damaging |
Het |
| Dnajc13 |
G |
T |
9: 104,061,814 (GRCm39) |
T1380K |
possibly damaging |
Het |
| Dsg4 |
T |
A |
18: 20,598,226 (GRCm39) |
S715T |
possibly damaging |
Het |
| Dync2h1 |
G |
T |
9: 6,955,986 (GRCm39) |
T4132K |
probably benign |
Het |
| Egfem1 |
A |
T |
3: 29,711,419 (GRCm39) |
|
probably null |
Het |
| Etl4 |
G |
T |
2: 20,785,826 (GRCm39) |
V716L |
probably damaging |
Het |
| Exoc3l2 |
A |
G |
7: 19,213,957 (GRCm39) |
E461G |
unknown |
Het |
| Flrt3 |
G |
T |
2: 140,502,836 (GRCm39) |
P264Q |
possibly damaging |
Het |
| Fmn2 |
G |
C |
1: 174,330,019 (GRCm39) |
E136D |
unknown |
Het |
| Fosl2 |
A |
G |
5: 32,304,217 (GRCm39) |
I51V |
probably benign |
Het |
| Foxm1 |
A |
G |
6: 128,347,998 (GRCm39) |
T307A |
probably damaging |
Het |
| Garem1 |
T |
C |
18: 21,281,408 (GRCm39) |
D316G |
possibly damaging |
Het |
| Gm14403 |
A |
T |
2: 177,200,345 (GRCm39) |
H97L |
probably damaging |
Het |
| Gm5616 |
A |
G |
9: 48,361,890 (GRCm39) |
|
noncoding transcript |
Het |
| Hkdc1 |
T |
C |
10: 62,229,589 (GRCm39) |
D696G |
probably benign |
Het |
| Igkv1-88 |
C |
A |
6: 68,839,432 (GRCm39) |
W60L |
probably damaging |
Het |
| Iqgap3 |
G |
A |
3: 87,998,899 (GRCm39) |
W333* |
probably null |
Het |
| Itgb4 |
C |
T |
11: 115,874,983 (GRCm39) |
R447W |
probably benign |
Het |
| Kcnk3 |
G |
T |
5: 30,780,014 (GRCm39) |
V355L |
probably benign |
Het |
| Kmt5c |
A |
C |
7: 4,749,790 (GRCm39) |
K436T |
probably damaging |
Het |
| Lynx1 |
T |
C |
15: 74,623,264 (GRCm39) |
Y56C |
possibly damaging |
Het |
| Lypd5 |
T |
C |
7: 24,052,462 (GRCm39) |
S149P |
probably damaging |
Het |
| Map3k21 |
A |
T |
8: 126,638,169 (GRCm39) |
N252Y |
probably damaging |
Het |
| Mgat2 |
T |
C |
12: 69,232,454 (GRCm39) |
W343R |
probably damaging |
Het |
| Misp |
T |
G |
10: 79,663,728 (GRCm39) |
Y567* |
probably null |
Het |
| Mrgprb1 |
A |
T |
7: 48,097,568 (GRCm39) |
S115T |
probably benign |
Het |
| Muc16 |
A |
C |
9: 18,558,442 (GRCm39) |
I2617R |
unknown |
Het |
| Myo19 |
T |
A |
11: 84,790,226 (GRCm39) |
V394E |
probably damaging |
Het |
| Myo9b |
T |
A |
8: 71,801,040 (GRCm39) |
L1065Q |
probably benign |
Het |
| Nap1l1 |
A |
G |
10: 111,331,229 (GRCm39) |
D405G |
possibly damaging |
Het |
| Napb |
A |
T |
2: 148,542,411 (GRCm39) |
|
probably null |
Het |
| Nbas |
A |
G |
12: 13,443,431 (GRCm39) |
Y1162C |
probably benign |
Het |
| Nfam1 |
A |
T |
15: 82,917,325 (GRCm39) |
L36Q |
probably damaging |
Het |
| Nrros |
T |
C |
16: 31,963,411 (GRCm39) |
D202G |
probably damaging |
Het |
| Or51k1 |
T |
G |
7: 103,661,117 (GRCm39) |
H264P |
probably damaging |
Het |
| Or7a39 |
T |
G |
10: 78,715,787 (GRCm39) |
Y260* |
probably null |
Het |
| Osgin2 |
T |
C |
4: 15,998,908 (GRCm39) |
E238G |
probably benign |
Het |
| Papss2 |
A |
G |
19: 32,616,636 (GRCm39) |
T221A |
probably benign |
Het |
| Pcdhga12 |
A |
C |
18: 37,901,084 (GRCm39) |
K639Q |
probably damaging |
Het |
| Pkhd1l1 |
T |
A |
15: 44,352,900 (GRCm39) |
|
probably null |
Het |
| Pmepa1 |
A |
G |
2: 173,076,105 (GRCm39) |
S83P |
possibly damaging |
Het |
| Pnp |
G |
A |
14: 51,188,000 (GRCm39) |
V118M |
probably damaging |
Het |
| Ppat |
T |
C |
5: 77,063,112 (GRCm39) |
T500A |
probably benign |
Het |
| Pramel22 |
C |
A |
4: 143,381,034 (GRCm39) |
V330F |
probably damaging |
Het |
| Rab11fip4 |
A |
G |
11: 79,581,601 (GRCm39) |
N532S |
probably benign |
Het |
| Rbm25 |
A |
G |
12: 83,718,725 (GRCm39) |
D499G |
probably damaging |
Het |
| Rnf139 |
A |
G |
15: 58,770,687 (GRCm39) |
I237M |
possibly damaging |
Het |
| Rrp15 |
C |
T |
1: 186,471,952 (GRCm39) |
S85N |
possibly damaging |
Het |
| Sidt1 |
T |
C |
16: 44,082,071 (GRCm39) |
Y568C |
probably damaging |
Het |
| Slirp |
A |
G |
12: 87,490,784 (GRCm39) |
T29A |
probably damaging |
Het |
| Sltm |
G |
C |
9: 70,494,086 (GRCm39) |
E828Q |
probably damaging |
Het |
| Spindoc |
A |
G |
19: 7,351,960 (GRCm39) |
I129T |
probably damaging |
Het |
| Spire1 |
T |
A |
18: 67,630,386 (GRCm39) |
|
probably null |
Het |
| Styx |
A |
G |
14: 45,605,909 (GRCm39) |
T138A |
probably benign |
Het |
| Sv2c |
A |
T |
13: 96,112,571 (GRCm39) |
L642* |
probably null |
Het |
| Taf7 |
T |
C |
18: 37,776,498 (GRCm39) |
E23G |
probably damaging |
Het |
| Tcp10a |
A |
T |
17: 7,612,425 (GRCm39) |
T406S |
possibly damaging |
Het |
| Tnrc6b |
T |
A |
15: 80,765,017 (GRCm39) |
S840T |
probably benign |
Het |
| Tns3 |
A |
G |
11: 8,442,245 (GRCm39) |
I706T |
probably damaging |
Het |
| Tpsab1 |
A |
G |
17: 25,564,346 (GRCm39) |
V36A |
probably benign |
Het |
| Trafd1 |
T |
A |
5: 121,511,342 (GRCm39) |
D492V |
probably damaging |
Het |
| Trp53 |
A |
G |
11: 69,478,244 (GRCm39) |
E51G |
probably benign |
Het |
| Vdr |
C |
T |
15: 97,755,477 (GRCm39) |
A349T |
probably benign |
Het |
| Vmn2r59 |
T |
C |
7: 41,695,491 (GRCm39) |
D307G |
probably benign |
Het |
| Zfp365 |
C |
A |
10: 67,733,437 (GRCm39) |
V252F |
probably damaging |
Het |
| Zfp830 |
T |
A |
11: 82,655,803 (GRCm39) |
N202K |
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 |
|
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 |
|
|
|
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'- TCATCTGACAAGCAAATGGATG -3'
(R):5'- GAGACTGTGTCTGTATAAAGGGC -3'
Sequencing Primer
(F):5'- ATCTATACTGTTACCAGGAGTGTG -3'
(R):5'- CTTGGGTAGAAAGTGGTCACC -3'
|
| Posted On |
2017-06-26 |
Incidental Mutation