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: 0.319)
|
Stock # |
R5897 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
18 |
Chromosomal Location |
34575404-34639884 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 34587134 bp (GRCm39)
|
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 |
Abi3bp |
A |
G |
16: 56,425,032 (GRCm39) |
T489A |
possibly damaging |
Het |
Adam3 |
T |
C |
8: 25,187,244 (GRCm39) |
T416A |
probably benign |
Het |
Agbl3 |
A |
G |
6: 34,780,508 (GRCm39) |
I494V |
probably benign |
Het |
Akap9 |
T |
C |
5: 4,127,904 (GRCm39) |
S3747P |
probably benign |
Het |
Arhgef18 |
G |
T |
8: 3,489,682 (GRCm39) |
R338L |
probably damaging |
Het |
Atg16l1 |
G |
T |
1: 87,713,719 (GRCm39) |
|
probably null |
Het |
BC024139 |
A |
G |
15: 76,010,339 (GRCm39) |
S56P |
possibly damaging |
Het |
Ccdc121 |
T |
C |
5: 31,643,308 (GRCm39) |
|
probably benign |
Het |
Ccdc175 |
T |
A |
12: 72,206,578 (GRCm39) |
I223L |
probably benign |
Het |
Cdcp3 |
A |
T |
7: 130,798,280 (GRCm39) |
|
probably null |
Het |
Cep76 |
T |
A |
18: 67,771,398 (GRCm39) |
Q78L |
probably benign |
Het |
Cyp20a1 |
A |
C |
1: 60,392,220 (GRCm39) |
N92T |
probably damaging |
Het |
Cyp2c68 |
T |
C |
19: 39,700,975 (GRCm39) |
D281G |
probably benign |
Het |
Cyp2j12 |
T |
C |
4: 95,990,279 (GRCm39) |
N429S |
probably damaging |
Het |
Dchs2 |
G |
A |
3: 83,192,717 (GRCm39) |
V1721I |
possibly damaging |
Het |
Elovl4 |
G |
A |
9: 83,672,157 (GRCm39) |
T54M |
possibly damaging |
Het |
Gje1 |
A |
T |
10: 14,592,467 (GRCm39) |
I105N |
probably damaging |
Het |
Grm4 |
G |
T |
17: 27,654,137 (GRCm39) |
F349L |
probably benign |
Het |
Hsd17b3 |
A |
G |
13: 64,236,799 (GRCm39) |
|
probably null |
Het |
Khdrbs1 |
A |
T |
4: 129,614,448 (GRCm39) |
D368E |
probably benign |
Het |
Klra10 |
T |
A |
6: 130,258,792 (GRCm39) |
R32* |
probably null |
Het |
Lrrc7 |
T |
A |
3: 157,869,990 (GRCm39) |
I644F |
probably damaging |
Het |
Or2i1 |
A |
T |
17: 37,508,151 (GRCm39) |
L161Q |
probably damaging |
Het |
Or2t1 |
G |
T |
14: 14,328,120 (GRCm38) |
G3V |
probably benign |
Het |
Otogl |
G |
A |
10: 107,612,978 (GRCm39) |
|
silent |
Het |
Pbx3 |
A |
T |
2: 34,261,920 (GRCm39) |
S5T |
probably benign |
Het |
Pcdhb13 |
T |
A |
18: 37,576,264 (GRCm39) |
V214E |
probably benign |
Het |
Pkd1l1 |
T |
C |
11: 8,829,176 (GRCm39) |
D1022G |
probably benign |
Het |
Pla2g4a |
T |
A |
1: 149,740,899 (GRCm39) |
K380I |
probably damaging |
Het |
Prl3b1 |
A |
G |
13: 27,429,858 (GRCm39) |
T99A |
probably benign |
Het |
Prr12 |
C |
T |
7: 44,692,808 (GRCm39) |
V1575I |
probably damaging |
Het |
Ptpn5 |
C |
T |
7: 46,729,262 (GRCm39) |
V451I |
probably benign |
Het |
Rab1a |
C |
T |
11: 20,168,867 (GRCm39) |
R51* |
probably null |
Het |
Skint9 |
A |
G |
4: 112,271,113 (GRCm39) |
I99T |
possibly damaging |
Het |
Tbc1d8 |
A |
G |
1: 39,431,190 (GRCm39) |
V394A |
possibly damaging |
Het |
Tcf20 |
A |
T |
15: 82,735,984 (GRCm39) |
C1822* |
probably null |
Het |
Tdrd6 |
T |
A |
17: 43,935,768 (GRCm39) |
D1760V |
probably damaging |
Het |
Tinag |
C |
A |
9: 76,952,726 (GRCm39) |
C86F |
probably damaging |
Het |
Tmtc2 |
A |
T |
10: 105,249,459 (GRCm39) |
N91K |
probably damaging |
Het |
Tmub1 |
G |
A |
5: 24,651,925 (GRCm39) |
T13M |
probably benign |
Het |
Txn2 |
G |
A |
15: 77,808,726 (GRCm39) |
A135V |
probably benign |
Het |
Ush2a |
G |
A |
1: 188,553,935 (GRCm39) |
G3475R |
probably damaging |
Het |
Usp38 |
T |
C |
8: 81,732,082 (GRCm39) |
D276G |
probably benign |
Het |
Vax1 |
T |
A |
19: 59,158,233 (GRCm39) |
I77F |
unknown |
Het |
Vmn2r108 |
C |
T |
17: 20,691,580 (GRCm39) |
M314I |
probably benign |
Het |
Vmn2r4 |
C |
A |
3: 64,322,687 (GRCm39) |
G11* |
probably null |
Het |
Zcchc14 |
T |
C |
8: 122,331,899 (GRCm39) |
|
probably benign |
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 |
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 |
R6087:Fam13b
|
UTSW |
18 |
34,620,192 (GRCm39) |
missense |
possibly damaging |
0.48 |
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'- CTCTATGGAGACCAGACTGACC -3'
(R):5'- ATGACCTGCTTTAGAAGAGCTTG -3'
Sequencing Primer
(F):5'- AAGAGATCTGCCTGCCTCTG -3'
(R):5'- GACCTGCTTTAGAAGAGCTTGATATC -3'
|
Posted On |
2017-02-15 |