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: 0.395)
|
| Stock # |
R0455 (G1)
|
| Quality Score |
201 |
|
Status
|
Validated
|
| Chromosome |
18 |
| Chromosomal Location |
34442352-34506823 bp(-) (GRCm38) |
| Type of Mutation |
unclassified |
| DNA Base Change (assembly) |
G to A
at 34445528 bp (GRCm38)
|
| 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: 103,230,983 (GRCm38) |
G342D |
possibly damaging |
Het |
| Acvr2b |
C |
T |
9: 119,432,609 (GRCm38) |
R399W |
probably damaging |
Het |
| AI464131 |
G |
A |
4: 41,499,538 (GRCm38) |
R31* |
probably null |
Het |
| Atf6 |
A |
G |
1: 170,834,923 (GRCm38) |
V256A |
probably benign |
Het |
| Atp2b4 |
A |
T |
1: 133,728,716 (GRCm38) |
I732N |
probably damaging |
Het |
| C1qtnf9 |
A |
C |
14: 60,772,371 (GRCm38) |
Q25H |
probably damaging |
Het |
| Ccdc6 |
T |
A |
10: 70,142,571 (GRCm38) |
|
probably benign |
Het |
| Cds2 |
T |
C |
2: 132,285,967 (GRCm38) |
|
probably null |
Het |
| Chdh |
A |
G |
14: 30,034,646 (GRCm38) |
Y343C |
probably damaging |
Het |
| Col5a2 |
T |
C |
1: 45,382,102 (GRCm38) |
|
probably benign |
Het |
| Cts3 |
G |
A |
13: 61,568,210 (GRCm38) |
|
probably benign |
Het |
| Cyfip1 |
T |
A |
7: 55,892,054 (GRCm38) |
D362E |
probably benign |
Het |
| Dsg1b |
T |
A |
18: 20,396,025 (GRCm38) |
S273T |
probably benign |
Het |
| Dysf |
A |
T |
6: 84,140,667 (GRCm38) |
H1274L |
probably benign |
Het |
| Eva1c |
T |
C |
16: 90,876,098 (GRCm38) |
S187P |
probably benign |
Het |
| Fam126b |
T |
C |
1: 58,534,479 (GRCm38) |
|
probably benign |
Het |
| Fam172a |
T |
A |
13: 77,834,713 (GRCm38) |
|
probably benign |
Het |
| Fbn2 |
C |
T |
18: 58,035,336 (GRCm38) |
G2310S |
probably damaging |
Het |
| Fcna |
T |
C |
2: 25,625,508 (GRCm38) |
Y183C |
probably damaging |
Het |
| Fnta |
T |
C |
8: 26,001,028 (GRCm38) |
T263A |
probably benign |
Het |
| Gm94 |
T |
C |
18: 43,781,244 (GRCm38) |
D83G |
possibly damaging |
Het |
| Gnal |
C |
T |
18: 67,135,649 (GRCm38) |
|
probably benign |
Het |
| Grb7 |
T |
G |
11: 98,452,188 (GRCm38) |
S244A |
probably benign |
Het |
| Grm3 |
T |
C |
5: 9,512,477 (GRCm38) |
T458A |
probably benign |
Het |
| Hdac2 |
C |
T |
10: 36,991,836 (GRCm38) |
R193C |
probably damaging |
Het |
| Ighmbp2 |
T |
C |
19: 3,265,072 (GRCm38) |
R783G |
probably benign |
Het |
| Inpp5j |
G |
T |
11: 3,503,122 (GRCm38) |
L43I |
possibly damaging |
Het |
| Itga11 |
A |
T |
9: 62,696,961 (GRCm38) |
T44S |
probably damaging |
Het |
| Itsn1 |
C |
T |
16: 91,868,148 (GRCm38) |
|
probably benign |
Het |
| Kdm6b |
G |
T |
11: 69,406,996 (GRCm38) |
C233* |
probably null |
Het |
| Lamb3 |
T |
C |
1: 193,343,392 (GRCm38) |
L1130P |
probably damaging |
Het |
| Lrch3 |
T |
C |
16: 32,986,880 (GRCm38) |
F508L |
probably damaging |
Het |
| Lrrd1 |
T |
A |
5: 3,866,425 (GRCm38) |
V814E |
probably benign |
Het |
| Megf10 |
C |
T |
18: 57,252,982 (GRCm38) |
P356S |
probably benign |
Het |
| Naip1 |
A |
T |
13: 100,423,219 (GRCm38) |
D1092E |
probably benign |
Het |
| Nus1 |
T |
A |
10: 52,430,094 (GRCm38) |
V42E |
probably damaging |
Het |
| Olfr435 |
A |
C |
6: 43,202,072 (GRCm38) |
M143L |
probably benign |
Het |
| Olfr739 |
A |
G |
14: 50,424,902 (GRCm38) |
I128V |
possibly damaging |
Het |
| Padi3 |
T |
C |
4: 140,795,713 (GRCm38) |
N306S |
probably damaging |
Het |
| Pex13 |
T |
C |
11: 23,655,949 (GRCm38) |
S94G |
probably benign |
Het |
| Ppm1h |
G |
T |
10: 122,802,324 (GRCm38) |
Q166H |
probably benign |
Het |
| Ptafr |
A |
T |
4: 132,580,085 (GRCm38) |
Y262F |
probably benign |
Het |
| Rabgap1 |
T |
A |
2: 37,487,120 (GRCm38) |
D321E |
probably damaging |
Het |
| Samsn1 |
C |
T |
16: 75,945,225 (GRCm38) |
|
noncoding transcript |
Het |
| Scarb1 |
T |
C |
5: 125,289,681 (GRCm38) |
N63D |
probably damaging |
Het |
| Serpinb7 |
T |
C |
1: 107,451,610 (GRCm38) |
I249T |
possibly damaging |
Het |
| Srpr |
A |
G |
9: 35,214,981 (GRCm38) |
K490R |
probably benign |
Het |
| Sycn |
A |
G |
7: 28,540,973 (GRCm38) |
N22D |
probably benign |
Het |
| Tarbp1 |
C |
T |
8: 126,440,873 (GRCm38) |
A1067T |
probably benign |
Het |
| Tex14 |
A |
G |
11: 87,514,305 (GRCm38) |
D681G |
possibly damaging |
Het |
| Usp34 |
C |
T |
11: 23,446,741 (GRCm38) |
|
probably benign |
Het |
| Vmn2r107 |
T |
C |
17: 20,374,823 (GRCm38) |
|
probably benign |
Het |
| Vwde |
A |
T |
6: 13,187,529 (GRCm38) |
M653K |
probably benign |
Het |
| Wrap73 |
T |
A |
4: 154,148,743 (GRCm38) |
S125T |
possibly damaging |
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 |
|
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 |
|
R5897:Fam13b
|
UTSW |
18 |
34,454,081 (GRCm38) |
missense |
possibly damaging |
0.83 |
|
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'- TGATAAGCAGAGATCCCGAGCCAG -3'
(R):5'- GGACTAAGCGCCCTATTAGGTGGAAG -3'
Sequencing Primer
(F):5'- AGAGATCCCGAGCCAGTTTTTC -3'
(R):5'- GCTGTTGTTACAGGGTTCTCCTT -3'
|
| Posted On |
2013-05-23 |
Incidental Mutation