Incidental Mutation 'R0455:Fam13b'
ID |
39984 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Fam13b
|
Ensembl Gene |
ENSMUSG00000036501 |
Gene Name |
family with sequence similarity 13, member B |
Synonyms |
2610024E20Rik |
MMRRC Submission |
038655-MU
|
Accession Numbers |
|
Essential gene? |
Possibly non essential
(E-score: 0.319)
|
Stock # |
R0455 (G1)
|
Quality Score |
201 |
Status
|
Validated
|
Chromosome |
18 |
Chromosomal Location |
34575404-34639884 bp(-) (GRCm39) |
Type of Mutation |
unclassified |
DNA Base Change (assembly) |
G to A
at 34578581 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
|
Ref Sequence |
ENSEMBL: ENSMUSP00000127257
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000014647]
[ENSMUST00000040506]
[ENSMUST00000166156]
|
AlphaFold |
Q8K2H3 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000014647
|
SMART Domains |
Protein: ENSMUSP00000014647 Gene: ENSMUSG00000014503
Domain | Start | End | E-Value | Type |
transmembrane domain
|
32 |
51 |
N/A |
INTRINSIC |
Pfam:PKD_channel
|
75 |
497 |
9.8e-129 |
PFAM |
Pfam:Ion_trans
|
281 |
490 |
4.1e-19 |
PFAM |
coiled coil region
|
523 |
550 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000040506
|
SMART Domains |
Protein: ENSMUSP00000038199 Gene: ENSMUSG00000036501
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 |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000166156
|
SMART Domains |
Protein: ENSMUSP00000127257 Gene: ENSMUSG00000014503
Domain | Start | End | E-Value | Type |
transmembrane domain
|
32 |
51 |
N/A |
INTRINSIC |
Pfam:PKD_channel
|
75 |
497 |
9.6e-131 |
PFAM |
Pfam:Ion_trans
|
242 |
502 |
4.8e-20 |
PFAM |
coiled coil region
|
523 |
550 |
N/A |
INTRINSIC |
|
Coding Region Coverage |
- 1x: 99.0%
- 3x: 98.1%
- 10x: 95.7%
- 20x: 90.8%
|
Validation Efficiency |
100% (56/56) |
Allele List at MGI |
|
Other mutations in this stock |
Total: 54 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
4921539E11Rik |
C |
T |
4: 103,088,180 (GRCm39) |
G342D |
possibly damaging |
Het |
Acvr2b |
C |
T |
9: 119,261,675 (GRCm39) |
R399W |
probably damaging |
Het |
Arb2a |
T |
A |
13: 77,982,832 (GRCm39) |
|
probably benign |
Het |
Atf6 |
A |
G |
1: 170,662,492 (GRCm39) |
V256A |
probably benign |
Het |
Atp2b4 |
A |
T |
1: 133,656,454 (GRCm39) |
I732N |
probably damaging |
Het |
C1qtnf9 |
A |
C |
14: 61,009,820 (GRCm39) |
Q25H |
probably damaging |
Het |
Ccdc6 |
T |
A |
10: 69,978,401 (GRCm39) |
|
probably benign |
Het |
Cds2 |
T |
C |
2: 132,127,887 (GRCm39) |
|
probably null |
Het |
Chdh |
A |
G |
14: 29,756,603 (GRCm39) |
Y343C |
probably damaging |
Het |
Col5a2 |
T |
C |
1: 45,421,262 (GRCm39) |
|
probably benign |
Het |
Cts3 |
G |
A |
13: 61,716,024 (GRCm39) |
|
probably benign |
Het |
Cyfip1 |
T |
A |
7: 55,541,802 (GRCm39) |
D362E |
probably benign |
Het |
Dsg1b |
T |
A |
18: 20,529,082 (GRCm39) |
S273T |
probably benign |
Het |
Dysf |
A |
T |
6: 84,117,649 (GRCm39) |
H1274L |
probably benign |
Het |
Eva1c |
T |
C |
16: 90,672,986 (GRCm39) |
S187P |
probably benign |
Het |
Fbn2 |
C |
T |
18: 58,168,408 (GRCm39) |
G2310S |
probably damaging |
Het |
Fcna |
T |
C |
2: 25,515,520 (GRCm39) |
Y183C |
probably damaging |
Het |
Fnta |
T |
C |
8: 26,491,056 (GRCm39) |
T263A |
probably benign |
Het |
Gm94 |
T |
C |
18: 43,914,309 (GRCm39) |
D83G |
possibly damaging |
Het |
Gnal |
C |
T |
18: 67,268,720 (GRCm39) |
|
probably benign |
Het |
Grb7 |
T |
G |
11: 98,343,014 (GRCm39) |
S244A |
probably benign |
Het |
Grm3 |
T |
C |
5: 9,562,477 (GRCm39) |
T458A |
probably benign |
Het |
Hdac2 |
C |
T |
10: 36,867,832 (GRCm39) |
R193C |
probably damaging |
Het |
Hycc2 |
T |
C |
1: 58,573,638 (GRCm39) |
|
probably benign |
Het |
Ighmbp2 |
T |
C |
19: 3,315,072 (GRCm39) |
R783G |
probably benign |
Het |
Inpp5j |
G |
T |
11: 3,453,122 (GRCm39) |
L43I |
possibly damaging |
Het |
Itga11 |
A |
T |
9: 62,604,243 (GRCm39) |
T44S |
probably damaging |
Het |
Itsn1 |
C |
T |
16: 91,665,036 (GRCm39) |
|
probably benign |
Het |
Kdm6b |
G |
T |
11: 69,297,822 (GRCm39) |
C233* |
probably null |
Het |
Lamb3 |
T |
C |
1: 193,025,700 (GRCm39) |
L1130P |
probably damaging |
Het |
Lrch3 |
T |
C |
16: 32,807,250 (GRCm39) |
F508L |
probably damaging |
Het |
Lrrd1 |
T |
A |
5: 3,916,425 (GRCm39) |
V814E |
probably benign |
Het |
Megf10 |
C |
T |
18: 57,386,054 (GRCm39) |
P356S |
probably benign |
Het |
Myorg |
G |
A |
4: 41,499,538 (GRCm39) |
R31* |
probably null |
Het |
Naip1 |
A |
T |
13: 100,559,727 (GRCm39) |
D1092E |
probably benign |
Het |
Nus1 |
T |
A |
10: 52,306,190 (GRCm39) |
V42E |
probably damaging |
Het |
Or11g24 |
A |
G |
14: 50,662,359 (GRCm39) |
I128V |
possibly damaging |
Het |
Or2a51 |
A |
C |
6: 43,179,006 (GRCm39) |
M143L |
probably benign |
Het |
Padi3 |
T |
C |
4: 140,523,024 (GRCm39) |
N306S |
probably damaging |
Het |
Pex13 |
T |
C |
11: 23,605,949 (GRCm39) |
S94G |
probably benign |
Het |
Ppm1h |
G |
T |
10: 122,638,229 (GRCm39) |
Q166H |
probably benign |
Het |
Ptafr |
A |
T |
4: 132,307,396 (GRCm39) |
Y262F |
probably benign |
Het |
Rabgap1 |
T |
A |
2: 37,377,132 (GRCm39) |
D321E |
probably damaging |
Het |
Samsn1 |
C |
T |
16: 75,742,113 (GRCm39) |
|
noncoding transcript |
Het |
Scarb1 |
T |
C |
5: 125,366,745 (GRCm39) |
N63D |
probably damaging |
Het |
Serpinb7 |
T |
C |
1: 107,379,340 (GRCm39) |
I249T |
possibly damaging |
Het |
Srpra |
A |
G |
9: 35,126,277 (GRCm39) |
K490R |
probably benign |
Het |
Sycn |
A |
G |
7: 28,240,398 (GRCm39) |
N22D |
probably benign |
Het |
Tarbp1 |
C |
T |
8: 127,167,612 (GRCm39) |
A1067T |
probably benign |
Het |
Tex14 |
A |
G |
11: 87,405,131 (GRCm39) |
D681G |
possibly damaging |
Het |
Usp34 |
C |
T |
11: 23,396,741 (GRCm39) |
|
probably benign |
Het |
Vmn2r107 |
T |
C |
17: 20,595,085 (GRCm39) |
|
probably benign |
Het |
Vwde |
A |
T |
6: 13,187,528 (GRCm39) |
M653K |
probably benign |
Het |
Wrap73 |
T |
A |
4: 154,233,200 (GRCm39) |
S125T |
possibly 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 |
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: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'- TGATAAGCAGAGATCCCGAGCCAG -3'
(R):5'- GGACTAAGCGCCCTATTAGGTGGAAG -3'
Sequencing Primer
(F):5'- AGAGATCCCGAGCCAGTTTTTC -3'
(R):5'- GCTGTTGTTACAGGGTTCTCCTT -3'
|
Posted On |
2013-05-23 |