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 |
Incidental Mutation