Incidental Mutation 'IGL02347:Fam13b'
| ID |
289318 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| 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 # |
IGL02347
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
18 |
| Chromosomal Location |
34442352-34506823 bp(-) (GRCm38) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 34454704 bp (GRCm38)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Lysine to Glutamic Acid
at position 514
(K514E)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000038199
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000040506]
|
| AlphaFold |
Q8K2H3 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000040506
AA Change: K514E
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000038199
Gene: ENSMUSG00000036501
AA Change: K514E
| 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 |
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 49 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1700123L14Rik |
A |
T |
6: 96,165,530 (GRCm38) |
Y178N |
probably damaging |
Het |
| 9830107B12Rik |
T |
A |
17: 48,145,664 (GRCm38) |
K35* |
probably null |
Het |
| Adad2 |
G |
T |
8: 119,616,669 (GRCm38) |
G546V |
probably damaging |
Het |
| Bccip |
A |
G |
7: 133,709,376 (GRCm38) |
K7E |
probably benign |
Het |
| C8b |
G |
A |
4: 104,786,954 (GRCm38) |
E273K |
probably benign |
Het |
| Car12 |
T |
A |
9: 66,764,347 (GRCm38) |
V352D |
possibly damaging |
Het |
| Cyp2d11 |
G |
A |
15: 82,390,480 (GRCm38) |
R299C |
probably benign |
Het |
| Dnah10 |
A |
C |
5: 124,833,423 (GRCm38) |
|
probably null |
Het |
| Egf |
A |
T |
3: 129,678,377 (GRCm38) |
N1199K |
probably benign |
Het |
| Ehbp1l1 |
A |
G |
19: 5,719,572 (GRCm38) |
W568R |
possibly damaging |
Het |
| Emc3 |
A |
G |
6: 113,520,572 (GRCm38) |
M106T |
possibly damaging |
Het |
| Epp13 |
A |
G |
7: 6,269,884 (GRCm38) |
I79M |
possibly damaging |
Het |
| Fhdc1 |
G |
A |
3: 84,444,735 (GRCm38) |
A1061V |
possibly damaging |
Het |
| Frg2f1 |
A |
C |
4: 119,530,732 (GRCm38) |
L190R |
probably damaging |
Het |
| Frmpd1 |
A |
G |
4: 45,270,023 (GRCm38) |
|
probably null |
Het |
| Glis3 |
A |
G |
19: 28,531,883 (GRCm38) |
F234L |
probably benign |
Het |
| Gm2035 |
T |
C |
12: 87,919,589 (GRCm38) |
D90G |
probably damaging |
Het |
| Grap2 |
T |
C |
15: 80,646,356 (GRCm38) |
|
probably benign |
Het |
| H2-M10.2 |
T |
A |
17: 36,285,613 (GRCm38) |
E113D |
probably benign |
Het |
| Itgb6 |
T |
C |
2: 60,611,412 (GRCm38) |
T685A |
probably benign |
Het |
| Mrpl19 |
A |
T |
6: 81,962,011 (GRCm38) |
M270K |
probably damaging |
Het |
| Msantd4 |
G |
T |
9: 4,384,734 (GRCm38) |
|
probably benign |
Het |
| Msr1 |
G |
T |
8: 39,632,737 (GRCm38) |
T34K |
probably damaging |
Het |
| Npc1 |
C |
T |
18: 12,199,634 (GRCm38) |
V780M |
probably benign |
Het |
| Nsun6 |
A |
G |
2: 15,030,020 (GRCm38) |
|
probably benign |
Het |
| Nt5c2 |
A |
G |
19: 46,924,256 (GRCm38) |
|
probably benign |
Het |
| Nucb2 |
A |
C |
7: 116,535,878 (GRCm38) |
Q340P |
probably benign |
Het |
| Olfr168 |
A |
G |
16: 19,530,779 (GRCm38) |
L47P |
probably damaging |
Het |
| Olfr401 |
C |
T |
11: 74,121,571 (GRCm38) |
T94I |
probably benign |
Het |
| Osgin1 |
A |
G |
8: 119,445,538 (GRCm38) |
E357G |
probably benign |
Het |
| Pabpc6 |
C |
T |
17: 9,669,064 (GRCm38) |
R186K |
probably benign |
Het |
| Pex1 |
A |
G |
5: 3,603,350 (GRCm38) |
K83R |
probably damaging |
Het |
| Ppid |
A |
G |
3: 79,595,219 (GRCm38) |
I82V |
probably benign |
Het |
| Pygl |
C |
T |
12: 70,201,892 (GRCm38) |
G318S |
probably benign |
Het |
| Rcn1 |
A |
T |
2: 105,399,126 (GRCm38) |
V27E |
probably benign |
Het |
| Rnaseh1 |
A |
T |
12: 28,657,630 (GRCm38) |
|
probably benign |
Het |
| Rnf148 |
A |
G |
6: 23,654,730 (GRCm38) |
V89A |
probably benign |
Het |
| Siglecf |
G |
A |
7: 43,351,721 (GRCm38) |
V38I |
possibly damaging |
Het |
| Slc13a5 |
T |
C |
11: 72,258,954 (GRCm38) |
|
probably null |
Het |
| Slc26a4 |
C |
T |
12: 31,528,854 (GRCm38) |
|
probably benign |
Het |
| Sos2 |
A |
T |
12: 69,596,746 (GRCm38) |
D953E |
probably benign |
Het |
| Strbp |
A |
C |
2: 37,645,648 (GRCm38) |
V16G |
probably benign |
Het |
| Sycp1 |
A |
T |
3: 102,893,547 (GRCm38) |
M567K |
probably benign |
Het |
| Tedc2 |
A |
C |
17: 24,220,610 (GRCm38) |
V19G |
probably damaging |
Het |
| Tjp1 |
A |
G |
7: 65,301,064 (GRCm38) |
|
probably null |
Het |
| Ttn |
A |
T |
2: 76,709,220 (GRCm38) |
V26147E |
probably damaging |
Het |
| Vmn1r86 |
A |
G |
7: 13,102,647 (GRCm38) |
S51P |
probably damaging |
Het |
| Vmn2r83 |
A |
G |
10: 79,480,233 (GRCm38) |
T488A |
possibly damaging |
Het |
| Zfp541 |
A |
G |
7: 16,083,465 (GRCm38) |
Y945C |
probably damaging |
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 |
|
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 |
|
R8776-TAIL: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 |
|
| Posted On |
2015-04-16 |
Incidental Mutation