Incidental Mutation 'R1397:Fam13b'
ID |
160206 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Fam13b
|
Ensembl Gene |
ENSMUSG00000036501 |
Gene Name |
family with sequence similarity 13, member B |
Synonyms |
2610024E20Rik |
MMRRC Submission |
039459-MU
|
Accession Numbers |
|
Essential gene? |
Possibly non essential
(E-score: 0.319)
|
Stock # |
R1397 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
18 |
Chromosomal Location |
34575404-34639884 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
C to T
at 34578636 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Methionine to Isoleucine
at position 705
(M705I)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000038199
(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
AA Change: M705I
PolyPhen 2
Score 0.050 (Sensitivity: 0.94; Specificity: 0.83)
|
SMART Domains |
Protein: ENSMUSP00000038199 Gene: ENSMUSG00000036501 AA Change: M705I
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 |
|
Meta Mutation Damage Score |
0.0955 |
Coding Region Coverage |
- 1x: 98.8%
- 3x: 97.8%
- 10x: 94.6%
- 20x: 87.0%
|
Validation Efficiency |
98% (59/60) |
Allele List at MGI |
|
Other mutations in this stock |
Total: 41 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abca17 |
T |
C |
17: 24,504,733 (GRCm39) |
E1222G |
probably benign |
Het |
Amph |
G |
A |
13: 19,326,198 (GRCm39) |
V643M |
probably damaging |
Het |
Ankmy2 |
T |
C |
12: 36,220,440 (GRCm39) |
|
probably benign |
Het |
Arhgef10l |
C |
T |
4: 140,271,754 (GRCm39) |
G827D |
probably damaging |
Het |
Chrac1 |
A |
G |
15: 72,962,293 (GRCm39) |
D3G |
possibly damaging |
Het |
Dmrtb1 |
G |
C |
4: 107,534,236 (GRCm39) |
P349R |
probably damaging |
Het |
Drd1 |
A |
G |
13: 54,207,573 (GRCm39) |
Y207H |
probably damaging |
Het |
Dync1h1 |
G |
A |
12: 110,602,943 (GRCm39) |
E2195K |
probably benign |
Het |
Epb41l3 |
T |
A |
17: 69,569,343 (GRCm39) |
|
probably null |
Het |
Gtf3c3 |
C |
T |
1: 54,456,937 (GRCm39) |
A488T |
probably damaging |
Het |
Iqgap2 |
A |
G |
13: 95,768,673 (GRCm39) |
I1409T |
probably benign |
Het |
Itih1 |
C |
T |
14: 30,651,862 (GRCm39) |
|
probably benign |
Het |
Itih5 |
A |
T |
2: 10,245,618 (GRCm39) |
D569V |
probably benign |
Het |
Krt9 |
A |
T |
11: 100,083,464 (GRCm39) |
L189Q |
probably damaging |
Het |
Mfsd11 |
T |
C |
11: 116,764,123 (GRCm39) |
F368S |
probably damaging |
Het |
Neb |
C |
A |
2: 52,133,955 (GRCm39) |
V3343F |
probably damaging |
Het |
Nfe2l3 |
T |
C |
6: 51,410,274 (GRCm39) |
S130P |
probably benign |
Het |
Nid1 |
G |
A |
13: 13,683,380 (GRCm39) |
A1153T |
possibly damaging |
Het |
Nr2c2 |
T |
C |
6: 92,126,745 (GRCm39) |
I78T |
probably benign |
Het |
Nrp1 |
T |
G |
8: 129,145,197 (GRCm39) |
Y84* |
probably null |
Het |
Pate2 |
T |
A |
9: 35,580,991 (GRCm39) |
F2I |
probably damaging |
Het |
Pign |
A |
G |
1: 105,585,496 (GRCm39) |
S18P |
probably damaging |
Het |
Pla2r1 |
T |
A |
2: 60,365,106 (GRCm39) |
T155S |
probably benign |
Het |
Rabl3 |
C |
T |
16: 37,360,336 (GRCm39) |
|
probably benign |
Het |
Rhbg |
C |
T |
3: 88,155,753 (GRCm39) |
V66I |
probably benign |
Het |
Rimkla |
C |
T |
4: 119,325,308 (GRCm39) |
G367E |
probably benign |
Het |
Rnpepl1 |
C |
A |
1: 92,844,881 (GRCm39) |
T391N |
probably damaging |
Het |
Rnps1 |
C |
T |
17: 24,631,031 (GRCm39) |
|
probably benign |
Het |
Rrs1 |
G |
A |
1: 9,615,992 (GRCm39) |
E82K |
probably damaging |
Het |
Slc25a48 |
A |
C |
13: 56,612,864 (GRCm39) |
D254A |
probably damaging |
Het |
Slc28a2 |
T |
A |
2: 122,291,012 (GRCm39) |
C659* |
probably null |
Het |
Sned1 |
G |
A |
1: 93,209,376 (GRCm39) |
V830M |
possibly damaging |
Het |
Spata31d1a |
C |
T |
13: 59,852,853 (GRCm39) |
|
probably benign |
Het |
Srrm1 |
A |
C |
4: 135,048,742 (GRCm39) |
|
probably benign |
Het |
Srrt |
A |
G |
5: 137,298,523 (GRCm39) |
V247A |
possibly damaging |
Het |
Tnks2 |
T |
C |
19: 36,857,901 (GRCm39) |
|
probably benign |
Het |
Trim33 |
A |
G |
3: 103,217,750 (GRCm39) |
|
probably benign |
Het |
Trim42 |
T |
A |
9: 97,247,674 (GRCm39) |
I341F |
probably damaging |
Het |
Trim55 |
T |
C |
3: 19,698,801 (GRCm39) |
F10S |
probably benign |
Het |
Trpm1 |
T |
C |
7: 63,867,406 (GRCm39) |
W369R |
probably damaging |
Het |
Vps13d |
C |
T |
4: 144,867,904 (GRCm39) |
R1976H |
probably 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 |
R0455:Fam13b
|
UTSW |
18 |
34,578,581 (GRCm39) |
unclassified |
probably benign |
|
R1229: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'- GCACGCATCCCTCTTGTCAGAGAAG -3'
(R):5'- TTTAGCTGCTGGGGACTAAGCGCC -3'
Sequencing Primer
(F):5'- TCCCTCTTGTCAGAGAAGCTAAG -3'
(R):5'- ACTAAGCGCCCTATTAGGTGG -3'
|
Posted On |
2014-03-14 |