Incidental Mutation 'R7825:Fam186b'
| ID |
602149 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Fam186b
|
| Ensembl Gene |
ENSMUSG00000078907 |
| Gene Name |
family with sequence similarity 186, member B |
| Synonyms |
EG545136 |
| MMRRC Submission |
045879-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R7825 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
15 |
| Chromosomal Location |
99168899-99193769 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 99181728 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Alanine
at position 157
(T157A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000104728
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000109100]
|
| AlphaFold |
D3Z420 |
| Predicted Effect |
not run
Transcript: ENSMUST00000109100
AA Change: T157A
|
| SMART Domains |
Protein: ENSMUSP00000104728
Gene: ENSMUSG00000078907
AA Change: T157A
| Domain | Start | End | E-Value | Type |
|---|
|
Blast:FBG
|
12 |
193 |
1e-19 |
BLAST |
|
low complexity region
|
354 |
363 |
N/A |
INTRINSIC |
|
low complexity region
|
478 |
493 |
N/A |
INTRINSIC |
|
low complexity region
|
508 |
522 |
N/A |
INTRINSIC |
|
low complexity region
|
789 |
810 |
N/A |
INTRINSIC |
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.8%
- 20x: 99.3%
|
| Validation Efficiency |
98% (55/56) |
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene product is a member of the FAM186 family, however, its exact function is not known. Alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Sep 2009]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 55 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1700013G24Rik |
C |
T |
4: 137,182,654 (GRCm39) |
R270C |
probably damaging |
Het |
| Adprs |
C |
A |
4: 126,215,489 (GRCm39) |
|
probably benign |
Het |
| Akp3 |
TCACCACCACCACCACCACCACCACCACCAC |
TCACCACCACCACCACCACCACCACCAC |
1: 87,055,489 (GRCm39) |
|
probably benign |
Het |
| Ambra1 |
A |
G |
2: 91,598,106 (GRCm39) |
H89R |
probably damaging |
Het |
| Atp1a1 |
T |
C |
3: 101,493,485 (GRCm39) |
N540D |
probably benign |
Het |
| Cd38 |
A |
T |
5: 44,058,797 (GRCm39) |
H137L |
probably damaging |
Het |
| Clasp1 |
T |
C |
1: 118,473,123 (GRCm39) |
V3A |
probably benign |
Het |
| Cmya5 |
G |
T |
13: 93,234,136 (GRCm39) |
H317Q |
possibly damaging |
Het |
| Cpeb2 |
A |
T |
5: 43,394,882 (GRCm39) |
D95V |
probably damaging |
Het |
| Cyp2f2 |
G |
A |
7: 26,828,678 (GRCm39) |
V183I |
probably benign |
Het |
| Dcst1 |
A |
G |
3: 89,260,128 (GRCm39) |
L572P |
possibly damaging |
Het |
| Eif3e |
A |
C |
15: 43,129,667 (GRCm39) |
|
probably null |
Het |
| Ephb4 |
T |
C |
5: 137,370,699 (GRCm39) |
S911P |
probably damaging |
Het |
| Gnmt |
T |
C |
17: 47,040,019 (GRCm39) |
D20G |
probably damaging |
Het |
| Gpatch8 |
A |
C |
11: 102,372,268 (GRCm39) |
D423E |
unknown |
Het |
| Gtf3c2 |
T |
C |
5: 31,315,715 (GRCm39) |
H790R |
probably damaging |
Het |
| Hepacam |
T |
C |
9: 37,296,064 (GRCm39) |
I405T |
probably benign |
Het |
| Hspg2 |
T |
A |
4: 137,286,160 (GRCm39) |
V3574E |
probably damaging |
Het |
| Ifi202b |
A |
C |
1: 173,802,616 (GRCm39) |
F73V |
probably damaging |
Het |
| Kcnb1 |
A |
T |
2: 166,947,892 (GRCm39) |
S319T |
probably damaging |
Het |
| Krt16 |
T |
A |
11: 100,139,460 (GRCm39) |
D86V |
unknown |
Het |
| Krt76 |
T |
A |
15: 101,795,938 (GRCm39) |
T411S |
possibly damaging |
Het |
| Myh8 |
A |
T |
11: 67,194,538 (GRCm39) |
D1583V |
possibly damaging |
Het |
| Nav1 |
A |
T |
1: 135,377,782 (GRCm39) |
V1689D |
probably damaging |
Het |
| Ncor2 |
T |
C |
5: 125,114,141 (GRCm39) |
T611A |
possibly damaging |
Het |
| Nipbl |
T |
A |
15: 8,320,971 (GRCm39) |
Y2712F |
probably damaging |
Het |
| Ntng2 |
T |
A |
2: 29,094,090 (GRCm39) |
H427L |
probably benign |
Het |
| Pcdhga4 |
T |
A |
18: 37,820,374 (GRCm39) |
L641Q |
probably damaging |
Het |
| Phc1 |
T |
C |
6: 122,299,340 (GRCm39) |
K623R |
probably benign |
Het |
| Polr1b |
C |
A |
2: 128,967,464 (GRCm39) |
F952L |
probably damaging |
Het |
| Prcc |
T |
A |
3: 87,777,052 (GRCm39) |
E307D |
possibly damaging |
Het |
| Prss27 |
T |
C |
17: 24,261,932 (GRCm39) |
F80S |
probably damaging |
Het |
| Rsf1 |
G |
GACGGCGGCC |
7: 97,229,116 (GRCm39) |
|
probably benign |
Het |
| Serpina11 |
T |
C |
12: 103,950,836 (GRCm39) |
Q295R |
probably benign |
Het |
| Sgk2 |
G |
T |
2: 162,848,801 (GRCm39) |
V284L |
possibly damaging |
Het |
| Slc15a2 |
C |
T |
16: 36,573,396 (GRCm39) |
V603I |
possibly damaging |
Het |
| Smpd3 |
A |
C |
8: 106,982,254 (GRCm39) |
C617G |
probably benign |
Het |
| Stat1 |
A |
G |
1: 52,190,467 (GRCm39) |
H574R |
probably damaging |
Het |
| Ston1 |
T |
C |
17: 88,943,881 (GRCm39) |
V429A |
possibly damaging |
Het |
| Tep1 |
T |
C |
14: 51,081,344 (GRCm39) |
|
probably null |
Het |
| Tesk1 |
A |
C |
4: 43,447,143 (GRCm39) |
R510S |
probably damaging |
Het |
| Themis |
A |
G |
10: 28,658,470 (GRCm39) |
E499G |
probably benign |
Het |
| Thra |
G |
A |
11: 98,653,774 (GRCm39) |
V202I |
probably benign |
Het |
| Tiam1 |
A |
T |
16: 89,694,977 (GRCm39) |
M160K |
probably benign |
Het |
| Tmc1 |
T |
C |
19: 20,782,009 (GRCm39) |
I570V |
possibly damaging |
Het |
| Treml1 |
C |
A |
17: 48,673,784 (GRCm39) |
P270Q |
probably damaging |
Het |
| Ttc39d |
A |
G |
17: 80,523,575 (GRCm39) |
N78S |
probably damaging |
Het |
| Ttll3 |
CAAAGTAA |
CAAAGTAAAGTAA |
6: 113,376,118 (GRCm39) |
|
probably null |
Het |
| Ttll3 |
AAGTA |
AAGTAGAGTA |
6: 113,376,120 (GRCm39) |
|
probably null |
Het |
| Ube3b |
T |
A |
5: 114,539,373 (GRCm39) |
L388Q |
probably damaging |
Het |
| Ugt2b35 |
T |
A |
5: 87,149,218 (GRCm39) |
C156* |
probably null |
Het |
| Vmn1r35 |
A |
T |
6: 66,656,443 (GRCm39) |
C76S |
probably damaging |
Het |
| Wwc2 |
A |
G |
8: 48,443,197 (GRCm39) |
L12P |
probably damaging |
Het |
| Zfat |
T |
C |
15: 68,051,769 (GRCm39) |
E668G |
probably benign |
Het |
| Zfp40 |
T |
C |
17: 23,395,301 (GRCm39) |
T429A |
probably benign |
Het |
|
| Other mutations in Fam186b |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01362:Fam186b
|
APN |
15 |
99,178,199 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL01729:Fam186b
|
APN |
15 |
99,178,132 (GRCm39) |
missense |
probably benign |
0.02 |
|
IGL01948:Fam186b
|
APN |
15 |
99,178,327 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL02133:Fam186b
|
APN |
15 |
99,171,584 (GRCm39) |
missense |
probably damaging |
0.96 |
|
IGL03010:Fam186b
|
APN |
15 |
99,178,508 (GRCm39) |
missense |
possibly damaging |
0.80 |
|
IGL03371:Fam186b
|
APN |
15 |
99,178,258 (GRCm39) |
missense |
probably benign |
0.00 |
|
R0457:Fam186b
|
UTSW |
15 |
99,169,166 (GRCm39) |
missense |
probably benign |
0.02 |
|
R0522:Fam186b
|
UTSW |
15 |
99,178,400 (GRCm39) |
missense |
probably benign |
0.00 |
|
R0571:Fam186b
|
UTSW |
15 |
99,184,834 (GRCm39) |
missense |
probably benign |
0.02 |
|
R0620:Fam186b
|
UTSW |
15 |
99,178,009 (GRCm39) |
missense |
probably benign |
0.34 |
|
R1575:Fam186b
|
UTSW |
15 |
99,184,852 (GRCm39) |
missense |
probably benign |
0.00 |
|
R1883:Fam186b
|
UTSW |
15 |
99,176,679 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R2144:Fam186b
|
UTSW |
15 |
99,178,538 (GRCm39) |
missense |
probably benign |
0.00 |
|
R2267:Fam186b
|
UTSW |
15 |
99,183,524 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R2332:Fam186b
|
UTSW |
15 |
99,178,309 (GRCm39) |
missense |
probably benign |
0.42 |
|
R2394:Fam186b
|
UTSW |
15 |
99,178,058 (GRCm39) |
missense |
probably benign |
0.01 |
|
R3624:Fam186b
|
UTSW |
15 |
99,178,396 (GRCm39) |
missense |
probably benign |
0.01 |
|
R4681:Fam186b
|
UTSW |
15 |
99,178,771 (GRCm39) |
missense |
probably benign |
0.00 |
|
R4811:Fam186b
|
UTSW |
15 |
99,178,118 (GRCm39) |
missense |
probably benign |
0.01 |
|
R4906:Fam186b
|
UTSW |
15 |
99,169,202 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R5028:Fam186b
|
UTSW |
15 |
99,178,682 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R5047:Fam186b
|
UTSW |
15 |
99,178,567 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5295:Fam186b
|
UTSW |
15 |
99,181,755 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5440:Fam186b
|
UTSW |
15 |
99,171,734 (GRCm39) |
missense |
possibly damaging |
0.75 |
|
R5468:Fam186b
|
UTSW |
15 |
99,176,751 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
R5596:Fam186b
|
UTSW |
15 |
99,169,170 (GRCm39) |
missense |
possibly damaging |
0.90 |
|
R5759:Fam186b
|
UTSW |
15 |
99,177,598 (GRCm39) |
missense |
probably benign |
0.09 |
|
R6239:Fam186b
|
UTSW |
15 |
99,178,315 (GRCm39) |
missense |
probably benign |
|
|
R7117:Fam186b
|
UTSW |
15 |
99,183,471 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R7141:Fam186b
|
UTSW |
15 |
99,181,773 (GRCm39) |
missense |
probably benign |
0.03 |
|
R7223:Fam186b
|
UTSW |
15 |
99,177,718 (GRCm39) |
missense |
possibly damaging |
0.77 |
|
R7301:Fam186b
|
UTSW |
15 |
99,176,629 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7441:Fam186b
|
UTSW |
15 |
99,177,970 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7614:Fam186b
|
UTSW |
15 |
99,184,867 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7853:Fam186b
|
UTSW |
15 |
99,178,628 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8340:Fam186b
|
UTSW |
15 |
99,177,595 (GRCm39) |
missense |
probably benign |
0.02 |
|
R8523:Fam186b
|
UTSW |
15 |
99,177,613 (GRCm39) |
missense |
probably benign |
0.00 |
|
R8821:Fam186b
|
UTSW |
15 |
99,178,733 (GRCm39) |
missense |
possibly damaging |
0.69 |
|
R8939:Fam186b
|
UTSW |
15 |
99,177,223 (GRCm39) |
missense |
probably benign |
0.00 |
|
R9016:Fam186b
|
UTSW |
15 |
99,177,616 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R9018:Fam186b
|
UTSW |
15 |
99,177,616 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R9305:Fam186b
|
UTSW |
15 |
99,177,616 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R9341:Fam186b
|
UTSW |
15 |
99,177,616 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R9343:Fam186b
|
UTSW |
15 |
99,177,616 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R9343:Fam186b
|
UTSW |
15 |
99,177,616 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R9345:Fam186b
|
UTSW |
15 |
99,177,616 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R9346:Fam186b
|
UTSW |
15 |
99,177,616 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R9450:Fam186b
|
UTSW |
15 |
99,183,425 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R9464:Fam186b
|
UTSW |
15 |
99,177,616 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R9517:Fam186b
|
UTSW |
15 |
99,177,616 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R9521:Fam186b
|
UTSW |
15 |
99,178,419 (GRCm39) |
missense |
probably benign |
0.00 |
|
R9563:Fam186b
|
UTSW |
15 |
99,177,616 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R9565:Fam186b
|
UTSW |
15 |
99,177,616 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R9565:Fam186b
|
UTSW |
15 |
99,176,685 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9568:Fam186b
|
UTSW |
15 |
99,176,571 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9652:Fam186b
|
UTSW |
15 |
99,177,616 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R9653:Fam186b
|
UTSW |
15 |
99,177,616 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R9727:Fam186b
|
UTSW |
15 |
99,171,669 (GRCm39) |
missense |
probably benign |
|
|
| Predicted Primers |
|
| Posted On |
2019-12-03 |
Incidental Mutation