Incidental Mutation 'R8776:Fam13b'
| ID |
664720 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Fam13b
|
| Ensembl Gene |
ENSMUSG00000036501 |
| Gene Name |
family with sequence similarity 13, member B |
| Synonyms |
2610024E20Rik |
| MMRRC Submission |
068629-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.319)
|
| Stock # |
R8776 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
18 |
| Chromosomal Location |
34575404-34639884 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to A
at 34584446 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Arginine to Cysteine
at position 573
(R573C)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000038199
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000040506]
|
| AlphaFold |
Q8K2H3 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000040506
AA Change: R573C
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000038199
Gene: ENSMUSG00000036501
AA Change: R573C
| 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 |
|
| Meta Mutation Damage Score |
0.3289 |
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.8%
- 20x: 99.5%
|
| Validation Efficiency |
100% (42/42) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 40 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4930568D16Rik |
A |
G |
2: 35,245,002 (GRCm39) |
Y117H |
probably benign |
Het |
| a |
A |
G |
2: 154,892,612 (GRCm39) |
D97G |
probably damaging |
Het |
| Cdca7l |
T |
C |
12: 117,836,098 (GRCm39) |
S190P |
probably damaging |
Het |
| Chst9 |
T |
A |
18: 15,586,086 (GRCm39) |
Y159F |
possibly damaging |
Het |
| Col26a1 |
G |
A |
5: 136,911,708 (GRCm39) |
R52C |
probably damaging |
Het |
| Dchs2 |
A |
T |
3: 83,263,701 (GRCm39) |
D3323V |
possibly damaging |
Het |
| Dennd11 |
T |
C |
6: 40,395,775 (GRCm39) |
|
probably benign |
Het |
| Dqx1 |
T |
A |
6: 83,035,619 (GRCm39) |
I44N |
probably damaging |
Het |
| Edc4 |
A |
G |
8: 106,613,992 (GRCm39) |
D415G |
probably damaging |
Het |
| Enpp3 |
T |
A |
10: 24,650,733 (GRCm39) |
D801V |
probably damaging |
Het |
| Fgfr2 |
A |
T |
7: 129,798,002 (GRCm39) |
I415N |
possibly damaging |
Het |
| Gm32742 |
T |
A |
9: 51,067,230 (GRCm39) |
M366L |
probably benign |
Het |
| Gm49336 |
A |
T |
14: 60,457,515 (GRCm39) |
S563T |
possibly damaging |
Het |
| Gm5475 |
T |
C |
15: 100,324,892 (GRCm39) |
F107L |
unknown |
Het |
| Lamp3 |
T |
C |
16: 19,474,252 (GRCm39) |
D374G |
probably damaging |
Het |
| Lin9 |
T |
C |
1: 180,496,450 (GRCm39) |
|
probably null |
Het |
| Mef2d |
T |
C |
3: 88,074,956 (GRCm39) |
S381P |
probably benign |
Het |
| Mfsd9 |
A |
G |
1: 40,812,915 (GRCm39) |
*467Q |
probably null |
Het |
| Mpo |
A |
G |
11: 87,693,538 (GRCm39) |
I639V |
possibly damaging |
Het |
| Mrgprh |
T |
C |
17: 13,096,375 (GRCm39) |
I205T |
probably benign |
Het |
| Ncapd2 |
T |
C |
6: 125,154,476 (GRCm39) |
D580G |
probably benign |
Het |
| Nkain4 |
T |
A |
2: 180,585,920 (GRCm39) |
I48F |
probably damaging |
Het |
| Notch4 |
C |
A |
17: 34,806,579 (GRCm39) |
R1839S |
probably damaging |
Het |
| Nr6a1 |
A |
G |
2: 38,650,244 (GRCm39) |
Y129H |
probably damaging |
Het |
| Nras |
T |
C |
3: 102,966,176 (GRCm39) |
|
probably benign |
Het |
| Or7g19 |
T |
A |
9: 18,856,286 (GRCm39) |
I114N |
possibly damaging |
Het |
| Robo1 |
G |
T |
16: 72,821,141 (GRCm39) |
E1294* |
probably null |
Het |
| Septin8 |
A |
G |
11: 53,428,343 (GRCm39) |
K331R |
probably benign |
Het |
| Shmt2 |
A |
G |
10: 127,356,785 (GRCm39) |
|
probably null |
Het |
| Skint6 |
A |
C |
4: 112,661,885 (GRCm39) |
L1233R |
possibly damaging |
Het |
| Slc41a3 |
A |
T |
6: 90,621,165 (GRCm39) |
T402S |
probably benign |
Het |
| Slc9a2 |
A |
G |
1: 40,781,889 (GRCm39) |
T373A |
probably damaging |
Het |
| Spata31d1b |
T |
C |
13: 59,863,283 (GRCm39) |
C144R |
probably benign |
Het |
| Syne1 |
A |
G |
10: 5,181,783 (GRCm39) |
V4184A |
possibly damaging |
Het |
| Tenm4 |
G |
A |
7: 96,544,239 (GRCm39) |
R2122H |
probably damaging |
Het |
| Tlnrd1 |
A |
T |
7: 83,532,316 (GRCm39) |
D38E |
probably benign |
Het |
| Tnnc2 |
C |
T |
2: 164,620,135 (GRCm39) |
A6T |
probably benign |
Het |
| Usp9y |
A |
G |
Y: 1,356,320 (GRCm39) |
V1127A |
probably benign |
Het |
| Ylpm1 |
T |
C |
12: 85,077,195 (GRCm39) |
Y1307H |
probably damaging |
Het |
| Zfp266 |
T |
C |
9: 20,411,509 (GRCm39) |
S223G |
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 |
|
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 |
|
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-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'- TTTCCAGTGTTCTAAAGGCCGC -3'
(R):5'- GCTCTTTTATGAACCCGGCG -3'
Sequencing Primer
(F):5'- ACCTTGATATCCTCAGGAAGGTGC -3'
(R):5'- AACCCGGCGTTCACTTC -3'
|
| Posted On |
2021-03-08 |
Incidental Mutation