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 |
71431609-71727838 bp(-) (GRCm38) |
| Type of Mutation |
critical splice donor site (2 bp from exon) |
| DNA Base Change (assembly) |
A to G
at 71448669 bp (GRCm38)
|
| 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: 109,953,597 (GRCm38) |
E931D |
possibly damaging |
Het |
| Aebp1 |
C |
T |
11: 5,867,911 (GRCm38) |
T62I |
possibly damaging |
Het |
| Babam2 |
A |
T |
5: 31,820,620 (GRCm38) |
E139V |
possibly damaging |
Het |
| Bclaf1 |
C |
T |
10: 20,323,063 (GRCm38) |
R67* |
probably null |
Het |
| Bcr |
C |
A |
10: 75,176,416 (GRCm38) |
T51K |
probably benign |
Het |
| Best3 |
T |
A |
10: 117,004,417 (GRCm38) |
C251S |
probably damaging |
Het |
| Birc6 |
A |
G |
17: 74,648,158 (GRCm38) |
M3457V |
probably benign |
Het |
| C87436 |
C |
A |
6: 86,445,975 (GRCm38) |
T177K |
possibly damaging |
Het |
| Cabin1 |
T |
A |
10: 75,725,560 (GRCm38) |
T1036S |
probably benign |
Het |
| Catsperg2 |
C |
A |
7: 29,713,017 (GRCm38) |
V383L |
possibly damaging |
Het |
| Ccdc182 |
C |
T |
11: 88,294,339 (GRCm38) |
Q82* |
probably null |
Het |
| Ccl9 |
T |
C |
11: 83,575,874 (GRCm38) |
T76A |
probably damaging |
Het |
| Cdc16 |
G |
T |
8: 13,781,399 (GRCm38) |
C544F |
possibly damaging |
Het |
| Cdh18 |
A |
C |
15: 23,474,216 (GRCm38) |
D724A |
possibly damaging |
Het |
| Cdip1 |
G |
A |
16: 4,770,082 (GRCm38) |
P6S |
probably damaging |
Het |
| Col12a1 |
A |
G |
9: 79,630,560 (GRCm38) |
V2542A |
probably damaging |
Het |
| Dnajc13 |
G |
T |
9: 104,184,615 (GRCm38) |
T1380K |
possibly damaging |
Het |
| Dsg4 |
T |
A |
18: 20,465,169 (GRCm38) |
S715T |
possibly damaging |
Het |
| Dync2h1 |
G |
T |
9: 6,955,986 (GRCm38) |
T4132K |
probably benign |
Het |
| Egfem1 |
A |
T |
3: 29,657,270 (GRCm38) |
|
probably null |
Het |
| Etl4 |
G |
T |
2: 20,781,015 (GRCm38) |
V716L |
probably damaging |
Het |
| Exoc3l2 |
A |
G |
7: 19,480,032 (GRCm38) |
E461G |
unknown |
Het |
| Flrt3 |
G |
T |
2: 140,660,916 (GRCm38) |
P264Q |
possibly damaging |
Het |
| Fmn2 |
G |
C |
1: 174,502,453 (GRCm38) |
E136D |
unknown |
Het |
| Fosl2 |
A |
G |
5: 32,146,873 (GRCm38) |
I51V |
probably benign |
Het |
| Foxm1 |
A |
G |
6: 128,371,035 (GRCm38) |
T307A |
probably damaging |
Het |
| Garem1 |
T |
C |
18: 21,148,351 (GRCm38) |
D316G |
possibly damaging |
Het |
| Gm13088 |
C |
A |
4: 143,654,464 (GRCm38) |
V330F |
probably damaging |
Het |
| Gm14403 |
A |
T |
2: 177,508,552 (GRCm38) |
H97L |
probably damaging |
Het |
| Gm5616 |
A |
G |
9: 48,450,590 (GRCm38) |
|
noncoding transcript |
Het |
| Hkdc1 |
T |
C |
10: 62,393,810 (GRCm38) |
D696G |
probably benign |
Het |
| Igkv1-88 |
C |
A |
6: 68,862,448 (GRCm38) |
W60L |
probably damaging |
Het |
| Iqgap3 |
G |
A |
3: 88,091,592 (GRCm38) |
W333* |
probably null |
Het |
| Itgb4 |
C |
T |
11: 115,984,157 (GRCm38) |
R447W |
probably benign |
Het |
| Kcnk3 |
G |
T |
5: 30,622,670 (GRCm38) |
V355L |
probably benign |
Het |
| Kmt5c |
A |
C |
7: 4,746,791 (GRCm38) |
K436T |
probably damaging |
Het |
| Lynx1 |
T |
C |
15: 74,751,415 (GRCm38) |
Y56C |
possibly damaging |
Het |
| Lypd5 |
T |
C |
7: 24,353,037 (GRCm38) |
S149P |
probably damaging |
Het |
| Map3k21 |
A |
T |
8: 125,911,430 (GRCm38) |
N252Y |
probably damaging |
Het |
| Mgat2 |
T |
C |
12: 69,185,680 (GRCm38) |
W343R |
probably damaging |
Het |
| Misp |
T |
G |
10: 79,827,894 (GRCm38) |
Y567* |
probably null |
Het |
| Mrgprb1 |
A |
T |
7: 48,447,820 (GRCm38) |
S115T |
probably benign |
Het |
| Muc16 |
A |
C |
9: 18,647,146 (GRCm38) |
I2617R |
unknown |
Het |
| Myo19 |
T |
A |
11: 84,899,400 (GRCm38) |
V394E |
probably damaging |
Het |
| Myo9b |
T |
A |
8: 71,348,396 (GRCm38) |
L1065Q |
probably benign |
Het |
| Nap1l1 |
A |
G |
10: 111,495,368 (GRCm38) |
D405G |
possibly damaging |
Het |
| Napb |
A |
T |
2: 148,700,491 (GRCm38) |
|
probably null |
Het |
| Nbas |
A |
G |
12: 13,393,430 (GRCm38) |
Y1162C |
probably benign |
Het |
| Nfam1 |
A |
T |
15: 83,033,124 (GRCm38) |
L36Q |
probably damaging |
Het |
| Nrros |
T |
C |
16: 32,144,593 (GRCm38) |
D202G |
probably damaging |
Het |
| Olfr1355 |
T |
G |
10: 78,879,953 (GRCm38) |
Y260* |
probably null |
Het |
| Olfr639 |
T |
G |
7: 104,011,910 (GRCm38) |
H264P |
probably damaging |
Het |
| Osgin2 |
T |
C |
4: 15,998,908 (GRCm38) |
E238G |
probably benign |
Het |
| Papss2 |
A |
G |
19: 32,639,236 (GRCm38) |
T221A |
probably benign |
Het |
| Pcdhga12 |
A |
C |
18: 37,768,031 (GRCm38) |
K639Q |
probably damaging |
Het |
| Pkhd1l1 |
T |
A |
15: 44,489,504 (GRCm38) |
|
probably null |
Het |
| Pmepa1 |
A |
G |
2: 173,234,312 (GRCm38) |
S83P |
possibly damaging |
Het |
| Pnp |
G |
A |
14: 50,950,543 (GRCm38) |
V118M |
probably damaging |
Het |
| Ppat |
T |
C |
5: 76,915,265 (GRCm38) |
T500A |
probably benign |
Het |
| Rab11fip4 |
A |
G |
11: 79,690,775 (GRCm38) |
N532S |
probably benign |
Het |
| Rbm25 |
A |
G |
12: 83,671,951 (GRCm38) |
D499G |
probably damaging |
Het |
| Rnf139 |
A |
G |
15: 58,898,838 (GRCm38) |
I237M |
possibly damaging |
Het |
| Rrp15 |
C |
T |
1: 186,739,755 (GRCm38) |
S85N |
possibly damaging |
Het |
| Sidt1 |
T |
C |
16: 44,261,708 (GRCm38) |
Y568C |
probably damaging |
Het |
| Slirp |
A |
G |
12: 87,444,014 (GRCm38) |
T29A |
probably damaging |
Het |
| Sltm |
G |
C |
9: 70,586,804 (GRCm38) |
E828Q |
probably damaging |
Het |
| Spindoc |
A |
G |
19: 7,374,595 (GRCm38) |
I129T |
probably damaging |
Het |
| Spire1 |
T |
A |
18: 67,497,316 (GRCm38) |
|
probably null |
Het |
| Styx |
A |
G |
14: 45,368,452 (GRCm38) |
T138A |
probably benign |
Het |
| Sv2c |
A |
T |
13: 95,976,063 (GRCm38) |
L642* |
probably null |
Het |
| Taf7 |
T |
C |
18: 37,643,445 (GRCm38) |
E23G |
probably damaging |
Het |
| Tcp10a |
A |
T |
17: 7,345,026 (GRCm38) |
T406S |
possibly damaging |
Het |
| Tnrc6b |
T |
A |
15: 80,880,816 (GRCm38) |
S840T |
probably benign |
Het |
| Tns3 |
A |
G |
11: 8,492,245 (GRCm38) |
I706T |
probably damaging |
Het |
| Tpsab1 |
A |
G |
17: 25,345,372 (GRCm38) |
V36A |
probably benign |
Het |
| Trafd1 |
T |
A |
5: 121,373,279 (GRCm38) |
D492V |
probably damaging |
Het |
| Trp53 |
A |
G |
11: 69,587,418 (GRCm38) |
E51G |
probably benign |
Het |
| Vdr |
C |
T |
15: 97,857,596 (GRCm38) |
A349T |
probably benign |
Het |
| Vmn2r59 |
T |
C |
7: 42,046,067 (GRCm38) |
D307G |
probably benign |
Het |
| Zfp365 |
C |
A |
10: 67,897,607 (GRCm38) |
V252F |
probably damaging |
Het |
| Zfp830 |
T |
A |
11: 82,764,977 (GRCm38) |
N202K |
probably benign |
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 |
|
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 |
|
|
|
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'- TCATCTGACAAGCAAATGGATG -3'
(R):5'- GAGACTGTGTCTGTATAAAGGGC -3'
Sequencing Primer
(F):5'- ATCTATACTGTTACCAGGAGTGTG -3'
(R):5'- CTTGGGTAGAAAGTGGTCACC -3'
|
| Posted On |
2017-06-26 |
Incidental Mutation