Incidental Mutation 'R5897:Fam13b'
ID |
457616 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Fam13b
|
Ensembl Gene |
ENSMUSG00000036501 |
Gene Name |
family with sequence similarity 13, member B |
Synonyms |
2610024E20Rik |
MMRRC Submission |
044096-MU
|
Accession Numbers |
|
Essential gene? |
Possibly non essential
(E-score: 0.395)
|
Stock # |
R5897 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
18 |
Chromosomal Location |
34442352-34506823 bp(-) (GRCm38) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 34454081 bp (GRCm38)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Valine to Alanine
at position 542
(V542A)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000038199
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000040506]
|
AlphaFold |
Q8K2H3 |
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000040506
AA Change: V542A
PolyPhen 2
Score 0.835 (Sensitivity: 0.84; Specificity: 0.93)
|
SMART Domains |
Protein: ENSMUSP00000038199 Gene: ENSMUSG00000036501 AA Change: V542A
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: 99.8%
- 3x: 99.4%
- 10x: 97.0%
- 20x: 90.7%
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 47 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
4930548H24Rik |
T |
C |
5: 31,485,964 (GRCm38) |
|
probably benign |
Het |
5430419D17Rik |
A |
T |
7: 131,196,551 (GRCm38) |
|
probably null |
Het |
Abi3bp |
A |
G |
16: 56,604,669 (GRCm38) |
T489A |
possibly damaging |
Het |
Adam3 |
T |
C |
8: 24,697,228 (GRCm38) |
T416A |
probably benign |
Het |
Agbl3 |
A |
G |
6: 34,803,573 (GRCm38) |
I494V |
probably benign |
Het |
Akap9 |
T |
C |
5: 4,077,904 (GRCm38) |
S3747P |
probably benign |
Het |
Arhgef18 |
G |
T |
8: 3,439,682 (GRCm38) |
R338L |
probably damaging |
Het |
Atg16l1 |
G |
T |
1: 87,785,997 (GRCm38) |
|
probably null |
Het |
BC024139 |
A |
G |
15: 76,126,139 (GRCm38) |
S56P |
possibly damaging |
Het |
Ccdc175 |
T |
A |
12: 72,159,804 (GRCm38) |
I223L |
probably benign |
Het |
Cep76 |
T |
A |
18: 67,638,328 (GRCm38) |
Q78L |
probably benign |
Het |
Cyp20a1 |
A |
C |
1: 60,353,061 (GRCm38) |
N92T |
probably damaging |
Het |
Cyp2c68 |
T |
C |
19: 39,712,531 (GRCm38) |
D281G |
probably benign |
Het |
Cyp2j12 |
T |
C |
4: 96,102,042 (GRCm38) |
N429S |
probably damaging |
Het |
Dchs2 |
G |
A |
3: 83,285,410 (GRCm38) |
V1721I |
possibly damaging |
Het |
Elovl4 |
G |
A |
9: 83,790,104 (GRCm38) |
T54M |
possibly damaging |
Het |
Gje1 |
A |
T |
10: 14,716,723 (GRCm38) |
I105N |
probably damaging |
Het |
Grm4 |
G |
T |
17: 27,435,163 (GRCm38) |
F349L |
probably benign |
Het |
Hsd17b3 |
A |
G |
13: 64,088,985 (GRCm38) |
|
probably null |
Het |
Khdrbs1 |
A |
T |
4: 129,720,655 (GRCm38) |
D368E |
probably benign |
Het |
Klra10 |
T |
A |
6: 130,281,829 (GRCm38) |
R32* |
probably null |
Het |
Lrrc7 |
T |
A |
3: 158,164,353 (GRCm38) |
I644F |
probably damaging |
Het |
Olfr31 |
G |
T |
14: 14,328,120 (GRCm38) |
G3V |
probably benign |
Het |
Olfr94 |
A |
T |
17: 37,197,260 (GRCm38) |
L161Q |
probably damaging |
Het |
Otogl |
G |
A |
10: 107,777,117 (GRCm38) |
|
silent |
Het |
Pbx3 |
A |
T |
2: 34,371,908 (GRCm38) |
S5T |
probably benign |
Het |
Pcdhb13 |
T |
A |
18: 37,443,211 (GRCm38) |
V214E |
probably benign |
Het |
Pkd1l1 |
T |
C |
11: 8,879,176 (GRCm38) |
D1022G |
probably benign |
Het |
Pla2g4a |
T |
A |
1: 149,865,148 (GRCm38) |
K380I |
probably damaging |
Het |
Prl3b1 |
A |
G |
13: 27,245,875 (GRCm38) |
T99A |
probably benign |
Het |
Prr12 |
C |
T |
7: 45,043,384 (GRCm38) |
V1575I |
probably damaging |
Het |
Ptpn5 |
C |
T |
7: 47,079,514 (GRCm38) |
V451I |
probably benign |
Het |
Rab1a |
C |
T |
11: 20,218,867 (GRCm38) |
R51* |
probably null |
Het |
Skint9 |
A |
G |
4: 112,413,916 (GRCm38) |
I99T |
possibly damaging |
Het |
Tbc1d8 |
A |
G |
1: 39,392,109 (GRCm38) |
V394A |
possibly damaging |
Het |
Tcf20 |
A |
T |
15: 82,851,783 (GRCm38) |
C1822* |
probably null |
Het |
Tdrd6 |
T |
A |
17: 43,624,877 (GRCm38) |
D1760V |
probably damaging |
Het |
Tinag |
C |
A |
9: 77,045,444 (GRCm38) |
C86F |
probably damaging |
Het |
Tmtc2 |
A |
T |
10: 105,413,598 (GRCm38) |
N91K |
probably damaging |
Het |
Tmub1 |
G |
A |
5: 24,446,927 (GRCm38) |
T13M |
probably benign |
Het |
Txn2 |
G |
A |
15: 77,924,526 (GRCm38) |
A135V |
probably benign |
Het |
Ush2a |
G |
A |
1: 188,821,738 (GRCm38) |
G3475R |
probably damaging |
Het |
Usp38 |
T |
C |
8: 81,005,453 (GRCm38) |
D276G |
probably benign |
Het |
Vax1 |
T |
A |
19: 59,169,801 (GRCm38) |
I77F |
unknown |
Het |
Vmn2r108 |
C |
T |
17: 20,471,318 (GRCm38) |
M314I |
probably benign |
Het |
Vmn2r4 |
C |
A |
3: 64,415,266 (GRCm38) |
G11* |
probably null |
Het |
Zcchc14 |
T |
C |
8: 121,605,160 (GRCm38) |
|
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 |
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 |
|
Predicted Primers |
PCR Primer
(F):5'- CTCTATGGAGACCAGACTGACC -3'
(R):5'- ATGACCTGCTTTAGAAGAGCTTG -3'
Sequencing Primer
(F):5'- AAGAGATCTGCCTGCCTCTG -3'
(R):5'- GACCTGCTTTAGAAGAGCTTGATATC -3'
|
Posted On |
2017-02-15 |