Incidental Mutation 'R8776-TAIL:Fam13b'
| ID |
668088 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Fam13b
|
| Ensembl Gene |
ENSMUSG00000036501 |
| Gene Name |
family with sequence similarity 13, member B |
| Synonyms |
2610024E20Rik |
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.395)
|
| Stock # |
R8776-TAIL
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
18 |
| Chromosomal Location |
34442352-34506823 bp(-) (GRCm38) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to A
at 34451393 bp (GRCm38)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Arginine to Cysteine
at position 573
(R573C)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000038199
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000040506]
|
| AlphaFold |
Q8K2H3 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000040506
AA Change: R573C
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000038199
Gene: ENSMUSG00000036501
AA Change: R573C
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
4 |
14 |
N/A |
INTRINSIC |
|
RhoGAP
|
36 |
209 |
3.28e-44 |
SMART |
|
coiled coil region
|
220 |
240 |
N/A |
INTRINSIC |
|
low complexity region
|
280 |
295 |
N/A |
INTRINSIC |
|
low complexity region
|
484 |
495 |
N/A |
INTRINSIC |
|
coiled coil region
|
507 |
532 |
N/A |
INTRINSIC |
|
low complexity region
|
719 |
726 |
N/A |
INTRINSIC |
|
coiled coil region
|
778 |
807 |
N/A |
INTRINSIC |
|
| Meta Mutation Damage Score |
0.3289 |
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.8%
- 20x: 99.3%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 38 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4930568D16Rik |
A |
G |
2: 35,354,990 (GRCm38) |
Y117H |
probably benign |
Het |
| a |
A |
G |
2: 155,050,692 (GRCm38) |
D97G |
probably damaging |
Het |
| Cdca7l |
T |
C |
12: 117,872,363 (GRCm38) |
S190P |
probably damaging |
Het |
| Chst9 |
T |
A |
18: 15,453,029 (GRCm38) |
Y159F |
possibly damaging |
Het |
| Col26a1 |
G |
A |
5: 136,882,854 (GRCm38) |
R52C |
probably damaging |
Het |
| Dchs2 |
A |
T |
3: 83,356,394 (GRCm38) |
D3323V |
possibly damaging |
Het |
| Dqx1 |
T |
A |
6: 83,058,638 (GRCm38) |
I44N |
probably damaging |
Het |
| Edc4 |
A |
G |
8: 105,887,360 (GRCm38) |
D415G |
probably damaging |
Het |
| Enpp3 |
T |
A |
10: 24,774,835 (GRCm38) |
D801V |
probably damaging |
Het |
| Fgfr2 |
A |
T |
7: 130,196,272 (GRCm38) |
I415N |
possibly damaging |
Het |
| Gm32742 |
T |
A |
9: 51,155,930 (GRCm38) |
M366L |
probably benign |
Het |
| Gm49336 |
A |
T |
14: 60,220,066 (GRCm38) |
S563T |
possibly damaging |
Het |
| Gm5475 |
T |
C |
15: 100,427,011 (GRCm38) |
F107L |
unknown |
Het |
| Lamp3 |
T |
C |
16: 19,655,502 (GRCm38) |
D374G |
probably damaging |
Het |
| Lin9 |
T |
C |
1: 180,668,885 (GRCm38) |
|
probably null |
Het |
| Mef2d |
T |
C |
3: 88,167,649 (GRCm38) |
S381P |
probably benign |
Het |
| Mfsd9 |
A |
G |
1: 40,773,755 (GRCm38) |
*467Q |
probably null |
Het |
| Mpo |
A |
G |
11: 87,802,712 (GRCm38) |
I639V |
possibly damaging |
Het |
| Mrgprh |
T |
C |
17: 12,877,488 (GRCm38) |
I205T |
probably benign |
Het |
| Ncapd2 |
T |
C |
6: 125,177,513 (GRCm38) |
D580G |
probably benign |
Het |
| Nkain4 |
T |
A |
2: 180,944,127 (GRCm38) |
I48F |
probably damaging |
Het |
| Notch4 |
C |
A |
17: 34,587,605 (GRCm38) |
R1839S |
probably damaging |
Het |
| Nr6a1 |
A |
G |
2: 38,760,232 (GRCm38) |
Y129H |
probably damaging |
Het |
| Olfr832 |
T |
A |
9: 18,944,990 (GRCm38) |
I114N |
possibly damaging |
Het |
| Robo1 |
G |
T |
16: 73,024,253 (GRCm38) |
E1294* |
probably null |
Het |
| Sept8 |
A |
G |
11: 53,537,516 (GRCm38) |
K331R |
probably benign |
Het |
| Shmt2 |
A |
G |
10: 127,520,916 (GRCm38) |
|
probably null |
Het |
| Skint6 |
A |
C |
4: 112,804,688 (GRCm38) |
L1233R |
possibly damaging |
Het |
| Slc41a3 |
A |
T |
6: 90,644,183 (GRCm38) |
T402S |
probably benign |
Het |
| Slc9a2 |
A |
G |
1: 40,742,729 (GRCm38) |
T373A |
probably damaging |
Het |
| Spata31d1b |
T |
C |
13: 59,715,469 (GRCm38) |
C144R |
probably benign |
Het |
| Syne1 |
A |
G |
10: 5,231,783 (GRCm38) |
V4184A |
possibly damaging |
Het |
| Tenm4 |
G |
A |
7: 96,895,032 (GRCm38) |
R2122H |
probably damaging |
Het |
| Tlnrd1 |
A |
T |
7: 83,883,108 (GRCm38) |
D38E |
probably benign |
Het |
| Tnnc2 |
C |
T |
2: 164,778,215 (GRCm38) |
A6T |
probably benign |
Het |
| Usp9y |
A |
G |
Y: 1,356,320 (GRCm38) |
V1127A |
probably benign |
Het |
| Ylpm1 |
T |
C |
12: 85,030,421 (GRCm38) |
Y1307H |
probably damaging |
Het |
| Zfp266 |
T |
C |
9: 20,500,213 (GRCm38) |
S223G |
probably benign |
Het |
|
| Other mutations in Fam13b |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00230:Fam13b
|
APN |
18 |
34,487,096 (GRCm38) |
missense |
possibly damaging |
0.92 |
|
IGL00402:Fam13b
|
APN |
18 |
34,454,718 (GRCm38) |
missense |
probably damaging |
1.00 |
|
IGL00556:Fam13b
|
APN |
18 |
34,497,435 (GRCm38) |
missense |
probably damaging |
0.99 |
|
IGL02123:Fam13b
|
APN |
18 |
34,445,618 (GRCm38) |
unclassified |
probably benign |
|
|
IGL02313:Fam13b
|
APN |
18 |
34,454,656 (GRCm38) |
missense |
probably damaging |
1.00 |
|
IGL02346:Fam13b
|
APN |
18 |
34,462,105 (GRCm38) |
missense |
probably benign |
0.00 |
|
IGL02347:Fam13b
|
APN |
18 |
34,454,704 (GRCm38) |
missense |
probably damaging |
1.00 |
|
IGL02694:Fam13b
|
APN |
18 |
34,451,206 (GRCm38) |
critical splice donor site |
probably null |
|
|
IGL03347:Fam13b
|
APN |
18 |
34,462,051 (GRCm38) |
splice site |
probably benign |
|
|
R0109:Fam13b
|
UTSW |
18 |
34,451,308 (GRCm38) |
missense |
probably benign |
0.00 |
|
R0233:Fam13b
|
UTSW |
18 |
34,448,084 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R0455:Fam13b
|
UTSW |
18 |
34,445,528 (GRCm38) |
unclassified |
probably benign |
|
|
R1229:Fam13b
|
UTSW |
18 |
34,445,583 (GRCm38) |
missense |
probably benign |
0.05 |
|
R1397:Fam13b
|
UTSW |
18 |
34,445,583 (GRCm38) |
missense |
probably benign |
0.05 |
|
R1571:Fam13b
|
UTSW |
18 |
34,497,432 (GRCm38) |
missense |
possibly damaging |
0.92 |
|
R1703:Fam13b
|
UTSW |
18 |
34,451,439 (GRCm38) |
critical splice acceptor site |
probably null |
|
|
R1732:Fam13b
|
UTSW |
18 |
34,487,134 (GRCm38) |
missense |
probably benign |
0.04 |
|
R1777:Fam13b
|
UTSW |
18 |
34,457,760 (GRCm38) |
missense |
possibly damaging |
0.84 |
|
R1956:Fam13b
|
UTSW |
18 |
34,445,329 (GRCm38) |
missense |
possibly damaging |
0.69 |
|
R2296:Fam13b
|
UTSW |
18 |
34,494,761 (GRCm38) |
missense |
possibly damaging |
0.88 |
|
R3881:Fam13b
|
UTSW |
18 |
34,462,059 (GRCm38) |
critical splice donor site |
probably null |
|
|
R3896:Fam13b
|
UTSW |
18 |
34,462,955 (GRCm38) |
splice site |
probably benign |
|
|
R5277:Fam13b
|
UTSW |
18 |
34,462,190 (GRCm38) |
missense |
probably benign |
|
|
R5759:Fam13b
|
UTSW |
18 |
34,497,435 (GRCm38) |
missense |
probably damaging |
0.99 |
|
R5817:Fam13b
|
UTSW |
18 |
34,457,797 (GRCm38) |
missense |
possibly damaging |
0.93 |
|
R5897:Fam13b
|
UTSW |
18 |
34,454,081 (GRCm38) |
missense |
possibly damaging |
0.83 |
|
R6009:Fam13b
|
UTSW |
18 |
34,497,405 (GRCm38) |
missense |
possibly damaging |
0.92 |
|
R6020:Fam13b
|
UTSW |
18 |
34,494,774 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R6087:Fam13b
|
UTSW |
18 |
34,487,139 (GRCm38) |
missense |
possibly damaging |
0.48 |
|
R6151:Fam13b
|
UTSW |
18 |
34,494,277 (GRCm38) |
missense |
probably damaging |
0.96 |
|
R6454:Fam13b
|
UTSW |
18 |
34,457,662 (GRCm38) |
critical splice donor site |
probably null |
|
|
R6464:Fam13b
|
UTSW |
18 |
34,473,631 (GRCm38) |
nonsense |
probably null |
|
|
R6679:Fam13b
|
UTSW |
18 |
34,487,022 (GRCm38) |
missense |
possibly damaging |
0.53 |
|
R6723:Fam13b
|
UTSW |
18 |
34,498,026 (GRCm38) |
missense |
possibly damaging |
0.86 |
|
R6990:Fam13b
|
UTSW |
18 |
34,497,447 (GRCm38) |
missense |
possibly damaging |
0.92 |
|
R7420:Fam13b
|
UTSW |
18 |
34,494,611 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R7517:Fam13b
|
UTSW |
18 |
34,494,607 (GRCm38) |
missense |
probably damaging |
0.98 |
|
R7534:Fam13b
|
UTSW |
18 |
34,498,007 (GRCm38) |
missense |
probably damaging |
0.97 |
|
R7889:Fam13b
|
UTSW |
18 |
34,457,691 (GRCm38) |
missense |
probably benign |
0.00 |
|
R8139:Fam13b
|
UTSW |
18 |
34,473,633 (GRCm38) |
missense |
possibly damaging |
0.50 |
|
R8776:Fam13b
|
UTSW |
18 |
34,451,393 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R8826:Fam13b
|
UTSW |
18 |
34,498,017 (GRCm38) |
missense |
probably damaging |
0.96 |
|
R9166:Fam13b
|
UTSW |
18 |
34,462,199 (GRCm38) |
missense |
probably benign |
0.10 |
|
| Predicted Primers |
|
| Posted On |
2021-03-08 |
Incidental Mutation