Incidental Mutation 'R6087:Fam13b'
ID |
484626 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Fam13b
|
Ensembl Gene |
ENSMUSG00000036501 |
Gene Name |
family with sequence similarity 13, member B |
Synonyms |
2610024E20Rik |
MMRRC Submission |
044244-MU
|
Accession Numbers |
|
Essential gene? |
Possibly non essential
(E-score: 0.319)
|
Stock # |
R6087 (G1)
|
Quality Score |
225.009 |
Status
|
Not validated
|
Chromosome |
18 |
Chromosomal Location |
34575404-34639884 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
C to T
at 34620192 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Valine to Isoleucine
at position 231
(V231I)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000038199
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000040506]
|
AlphaFold |
Q8K2H3 |
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000040506
AA Change: V231I
PolyPhen 2
Score 0.483 (Sensitivity: 0.89; Specificity: 0.90)
|
SMART Domains |
Protein: ENSMUSP00000038199 Gene: ENSMUSG00000036501 AA Change: V231I
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 |
- 1x: 99.9%
- 3x: 99.5%
- 10x: 97.6%
- 20x: 92.2%
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 39 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
2310003L06Rik |
A |
G |
5: 88,119,621 (GRCm39) |
K126R |
possibly damaging |
Het |
Adam7 |
A |
T |
14: 68,748,206 (GRCm39) |
C548S |
probably damaging |
Het |
Adar |
C |
A |
3: 89,652,897 (GRCm39) |
H260N |
probably benign |
Het |
Ak9 |
A |
G |
10: 41,258,828 (GRCm39) |
E775G |
probably benign |
Het |
Arhgap35 |
T |
C |
7: 16,297,568 (GRCm39) |
Y499C |
probably damaging |
Het |
Bank1 |
A |
G |
3: 135,772,190 (GRCm39) |
L480P |
probably damaging |
Het |
Cep135 |
G |
T |
5: 76,763,638 (GRCm39) |
|
probably null |
Het |
Cnga1 |
G |
T |
5: 72,768,155 (GRCm39) |
A177E |
probably damaging |
Het |
Cubn |
T |
A |
2: 13,432,658 (GRCm39) |
D1221V |
probably damaging |
Het |
Cyp2d40 |
T |
C |
15: 82,648,205 (GRCm39) |
Y36C |
possibly damaging |
Het |
Dock8 |
C |
A |
19: 25,138,438 (GRCm39) |
N1254K |
probably benign |
Het |
Elapor2 |
T |
C |
5: 9,449,255 (GRCm39) |
S128P |
probably damaging |
Het |
Fbxo8 |
T |
A |
8: 57,022,353 (GRCm39) |
Y122N |
probably damaging |
Het |
Fmo2 |
T |
A |
1: 162,708,002 (GRCm39) |
I378F |
probably benign |
Het |
Golga3 |
A |
T |
5: 110,352,812 (GRCm39) |
Q861L |
probably damaging |
Het |
Hjurp |
GT |
GTT |
1: 88,194,246 (GRCm39) |
|
probably null |
Het |
Ighv3-8 |
G |
T |
12: 114,286,000 (GRCm39) |
A114E |
probably damaging |
Het |
Itga3 |
C |
T |
11: 94,943,269 (GRCm39) |
|
probably null |
Het |
Kank1 |
G |
A |
19: 25,387,088 (GRCm39) |
V254I |
probably benign |
Het |
Lipo5 |
A |
T |
19: 33,443,375 (GRCm39) |
I147K |
unknown |
Het |
Lrfn2 |
A |
G |
17: 49,378,154 (GRCm39) |
S412G |
probably benign |
Het |
Lrrn3 |
T |
C |
12: 41,503,534 (GRCm39) |
N261S |
possibly damaging |
Het |
Mical2 |
C |
T |
7: 111,917,692 (GRCm39) |
Q350* |
probably null |
Het |
Nras |
T |
C |
3: 102,967,637 (GRCm39) |
F78L |
probably damaging |
Het |
Nudt9 |
A |
G |
5: 104,198,679 (GRCm39) |
I65V |
probably benign |
Het |
Or10ag59 |
A |
G |
2: 87,406,259 (GRCm39) |
D277G |
probably benign |
Het |
Or4f17-ps1 |
A |
T |
2: 111,358,526 (GRCm39) |
E289V |
possibly damaging |
Het |
Oscar |
G |
A |
7: 3,614,311 (GRCm39) |
P143S |
probably benign |
Het |
Pla2g4d |
C |
T |
2: 120,100,487 (GRCm39) |
G615D |
probably damaging |
Het |
Plekha1 |
T |
G |
7: 130,502,301 (GRCm39) |
S175A |
probably benign |
Het |
Psg27 |
T |
C |
7: 18,290,869 (GRCm39) |
K445E |
probably benign |
Het |
Rad51c |
A |
G |
11: 87,271,705 (GRCm39) |
Y318H |
probably benign |
Het |
Ret |
G |
T |
6: 118,153,252 (GRCm39) |
T472K |
possibly damaging |
Het |
Tarbp1 |
T |
C |
8: 127,155,709 (GRCm39) |
D1343G |
probably benign |
Het |
Top2b |
C |
A |
14: 16,409,864 (GRCm38) |
R844S |
probably benign |
Het |
Vmn1r171 |
T |
A |
7: 23,332,429 (GRCm39) |
M218K |
probably damaging |
Het |
Vmn2r89 |
A |
T |
14: 51,695,033 (GRCm39) |
|
probably null |
Het |
Zc3h13 |
T |
A |
14: 75,568,149 (GRCm39) |
D1147E |
probably damaging |
Het |
Zgrf1 |
T |
A |
3: 127,409,135 (GRCm39) |
L1703H |
probably damaging |
Het |
|
Other mutations in Fam13b |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL00230:Fam13b
|
APN |
18 |
34,620,149 (GRCm39) |
missense |
possibly damaging |
0.92 |
IGL00402:Fam13b
|
APN |
18 |
34,587,771 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL00556:Fam13b
|
APN |
18 |
34,630,488 (GRCm39) |
missense |
probably damaging |
0.99 |
IGL02123:Fam13b
|
APN |
18 |
34,578,671 (GRCm39) |
unclassified |
probably benign |
|
IGL02313:Fam13b
|
APN |
18 |
34,587,709 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02346:Fam13b
|
APN |
18 |
34,595,158 (GRCm39) |
missense |
probably benign |
0.00 |
IGL02347:Fam13b
|
APN |
18 |
34,587,757 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02694:Fam13b
|
APN |
18 |
34,584,259 (GRCm39) |
critical splice donor site |
probably null |
|
IGL03347:Fam13b
|
APN |
18 |
34,595,104 (GRCm39) |
splice site |
probably benign |
|
R0109:Fam13b
|
UTSW |
18 |
34,584,361 (GRCm39) |
missense |
probably benign |
0.00 |
R0233:Fam13b
|
UTSW |
18 |
34,581,137 (GRCm39) |
missense |
probably damaging |
1.00 |
R0455:Fam13b
|
UTSW |
18 |
34,578,581 (GRCm39) |
unclassified |
probably benign |
|
R1229:Fam13b
|
UTSW |
18 |
34,578,636 (GRCm39) |
missense |
probably benign |
0.05 |
R1397:Fam13b
|
UTSW |
18 |
34,578,636 (GRCm39) |
missense |
probably benign |
0.05 |
R1571:Fam13b
|
UTSW |
18 |
34,630,485 (GRCm39) |
missense |
possibly damaging |
0.92 |
R1703:Fam13b
|
UTSW |
18 |
34,584,492 (GRCm39) |
critical splice acceptor site |
probably null |
|
R1732:Fam13b
|
UTSW |
18 |
34,620,187 (GRCm39) |
missense |
probably benign |
0.04 |
R1777:Fam13b
|
UTSW |
18 |
34,590,813 (GRCm39) |
missense |
possibly damaging |
0.84 |
R1956:Fam13b
|
UTSW |
18 |
34,578,382 (GRCm39) |
missense |
possibly damaging |
0.69 |
R2296:Fam13b
|
UTSW |
18 |
34,627,814 (GRCm39) |
missense |
possibly damaging |
0.88 |
R3881:Fam13b
|
UTSW |
18 |
34,595,112 (GRCm39) |
critical splice donor site |
probably null |
|
R3896:Fam13b
|
UTSW |
18 |
34,596,008 (GRCm39) |
splice site |
probably benign |
|
R5277:Fam13b
|
UTSW |
18 |
34,595,243 (GRCm39) |
missense |
probably benign |
|
R5759:Fam13b
|
UTSW |
18 |
34,630,488 (GRCm39) |
missense |
probably damaging |
0.99 |
R5817:Fam13b
|
UTSW |
18 |
34,590,850 (GRCm39) |
missense |
possibly damaging |
0.93 |
R5897:Fam13b
|
UTSW |
18 |
34,587,134 (GRCm39) |
missense |
possibly damaging |
0.83 |
R6009:Fam13b
|
UTSW |
18 |
34,630,458 (GRCm39) |
missense |
possibly damaging |
0.92 |
R6020:Fam13b
|
UTSW |
18 |
34,627,827 (GRCm39) |
missense |
probably damaging |
1.00 |
R6151:Fam13b
|
UTSW |
18 |
34,627,330 (GRCm39) |
missense |
probably damaging |
0.96 |
R6454:Fam13b
|
UTSW |
18 |
34,590,715 (GRCm39) |
critical splice donor site |
probably null |
|
R6464:Fam13b
|
UTSW |
18 |
34,606,684 (GRCm39) |
nonsense |
probably null |
|
R6679:Fam13b
|
UTSW |
18 |
34,620,075 (GRCm39) |
missense |
possibly damaging |
0.53 |
R6723:Fam13b
|
UTSW |
18 |
34,631,079 (GRCm39) |
missense |
possibly damaging |
0.86 |
R6990:Fam13b
|
UTSW |
18 |
34,630,500 (GRCm39) |
missense |
possibly damaging |
0.92 |
R7420:Fam13b
|
UTSW |
18 |
34,627,664 (GRCm39) |
missense |
probably damaging |
1.00 |
R7517:Fam13b
|
UTSW |
18 |
34,627,660 (GRCm39) |
missense |
probably damaging |
0.98 |
R7534:Fam13b
|
UTSW |
18 |
34,631,060 (GRCm39) |
missense |
probably damaging |
0.97 |
R7889:Fam13b
|
UTSW |
18 |
34,590,744 (GRCm39) |
missense |
probably benign |
0.00 |
R8139:Fam13b
|
UTSW |
18 |
34,606,686 (GRCm39) |
missense |
possibly damaging |
0.50 |
R8776:Fam13b
|
UTSW |
18 |
34,584,446 (GRCm39) |
missense |
probably damaging |
1.00 |
R8776-TAIL:Fam13b
|
UTSW |
18 |
34,584,446 (GRCm39) |
missense |
probably damaging |
1.00 |
R8826:Fam13b
|
UTSW |
18 |
34,631,070 (GRCm39) |
missense |
probably damaging |
0.96 |
R9166:Fam13b
|
UTSW |
18 |
34,595,252 (GRCm39) |
missense |
probably benign |
0.10 |
|
Predicted Primers |
PCR Primer
(F):5'- CTTGAGTCTACAGTGAAAGTTGAC -3'
(R):5'- AATCTGGGGCCTTGAGCATG -3'
Sequencing Primer
(F):5'- GTCTACAGTGAAAGTTGACTCAAC -3'
(R):5'- GCACTTTATAGGAGAGACTGG -3'
|
Posted On |
2017-08-16 |