Incidental Mutation 'R8281:F13b'
ID |
638183 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
F13b
|
Ensembl Gene |
ENSMUSG00000026368 |
Gene Name |
coagulation factor XIII, beta subunit |
Synonyms |
Cf-13b, Cf13b |
MMRRC Submission |
067704-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R8281 (G1)
|
Quality Score |
225.009 |
Status
|
Validated
|
Chromosome |
1 |
Chromosomal Location |
139429440-139451490 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
G to T
at 139438689 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Arginine to Serine
at position 364
(R364S)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000027615
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000027615]
|
AlphaFold |
Q07968 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000027615
AA Change: R364S
PolyPhen 2
Score 0.034 (Sensitivity: 0.95; Specificity: 0.82)
|
SMART Domains |
Protein: ENSMUSP00000027615 Gene: ENSMUSG00000026368 AA Change: R364S
Domain | Start | End | E-Value | Type |
signal peptide
|
1 |
21 |
N/A |
INTRINSIC |
CCP
|
26 |
88 |
1.26e-7 |
SMART |
CCP
|
92 |
147 |
2.11e-9 |
SMART |
CCP
|
154 |
209 |
9.83e-10 |
SMART |
CCP
|
214 |
268 |
7.62e-16 |
SMART |
CCP
|
275 |
328 |
8.62e-15 |
SMART |
CCP
|
337 |
390 |
4.62e-15 |
SMART |
CCP
|
397 |
451 |
3.5e-15 |
SMART |
Blast:CCP
|
455 |
516 |
1e-28 |
BLAST |
CCP
|
525 |
579 |
2.44e-14 |
SMART |
Blast:CCP
|
583 |
647 |
1e-8 |
BLAST |
|
Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.8%
- 20x: 99.4%
|
Validation Efficiency |
98% (44/45) |
MGI Phenotype |
FUNCTION: This gene encodes subunit B of the coagulation factor XIII that catalyzes the final step of the blood coagulation pathway. The encoded protein associates with subunit A to form a heterotetrameric protein that circulates in the plasma. During the blood coagulation process, thrombin-mediated proteolytic cleavage of the subunit A results in the dissociation of the encoded protein from the heterotetramer. Male mice lacking the encoded protein exhibit mild fibrosis together with hemosiderin deposits in the heart. [provided by RefSeq, Sep 2015] PHENOTYPE: Mice homozygous for a null mutation display increased bleeding time. [provided by MGI curators]
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 46 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Adam7 |
G |
A |
14: 68,745,334 (GRCm39) |
T630I |
possibly damaging |
Het |
Adgrf3 |
T |
C |
5: 30,402,301 (GRCm39) |
S576G |
possibly damaging |
Het |
Asxl1 |
A |
G |
2: 153,241,321 (GRCm39) |
R625G |
probably damaging |
Het |
Atp1a1 |
A |
G |
3: 101,486,940 (GRCm39) |
F916L |
probably benign |
Het |
Axl |
C |
T |
7: 25,463,379 (GRCm39) |
D633N |
probably benign |
Het |
Ccdc168 |
T |
G |
1: 44,095,698 (GRCm39) |
D1800A |
possibly damaging |
Het |
Chd9 |
A |
G |
8: 91,763,225 (GRCm39) |
D2350G |
probably damaging |
Het |
Cic |
G |
A |
7: 24,971,249 (GRCm39) |
V327I |
probably benign |
Het |
Crym |
T |
A |
7: 119,801,250 (GRCm39) |
|
probably benign |
Het |
Cyp3a13 |
G |
C |
5: 137,892,559 (GRCm39) |
S495C |
probably benign |
Het |
D5Ertd579e |
A |
T |
5: 36,770,664 (GRCm39) |
F137I |
|
Het |
Dip2a |
T |
C |
10: 76,112,438 (GRCm39) |
T1087A |
probably damaging |
Het |
Drc7 |
G |
A |
8: 95,788,805 (GRCm39) |
E288K |
possibly damaging |
Het |
Epb41l4a |
T |
C |
18: 34,011,998 (GRCm39) |
E174G |
probably damaging |
Het |
Ern2 |
T |
C |
7: 121,769,483 (GRCm39) |
R848G |
probably damaging |
Het |
F2rl1 |
A |
G |
13: 95,650,585 (GRCm39) |
L99P |
probably damaging |
Het |
Fam193a |
C |
A |
5: 34,600,780 (GRCm39) |
N171K |
unknown |
Het |
Fst |
A |
G |
13: 114,591,777 (GRCm39) |
S201P |
probably benign |
Het |
Gm10110 |
C |
T |
14: 90,135,677 (GRCm39) |
V76M |
noncoding transcript |
Het |
Gm8232 |
A |
G |
14: 44,674,548 (GRCm39) |
I182V |
|
Het |
Iqca1l |
T |
A |
5: 24,754,008 (GRCm39) |
H417L |
probably benign |
Het |
Kalrn |
C |
T |
16: 33,855,431 (GRCm39) |
W1956* |
probably null |
Het |
Klk1b16 |
A |
G |
7: 43,790,971 (GRCm39) |
M258V |
probably benign |
Het |
Lta4h |
G |
T |
10: 93,289,456 (GRCm39) |
D29Y |
probably damaging |
Het |
Marchf7 |
C |
T |
2: 60,064,873 (GRCm39) |
S383L |
probably benign |
Het |
Mob3c |
T |
C |
4: 115,688,635 (GRCm39) |
I56T |
probably benign |
Het |
Msl2 |
T |
C |
9: 100,978,894 (GRCm39) |
S423P |
probably benign |
Het |
Otop3 |
T |
C |
11: 115,235,901 (GRCm39) |
I511T |
possibly damaging |
Het |
Pbld2 |
T |
G |
10: 62,883,805 (GRCm39) |
L90R |
probably damaging |
Het |
Pcdh8 |
A |
G |
14: 80,006,919 (GRCm39) |
V548A |
probably damaging |
Het |
Peg10 |
CATCAGGATCCCCATCAGGATGCACATCAGGATCCACATCAGGATGCACATCAGGATC |
CATC |
6: 4,756,431 (GRCm39) |
|
probably benign |
Het |
Plch2 |
T |
A |
4: 155,091,430 (GRCm39) |
M228L |
probably benign |
Het |
Prkdc |
T |
C |
16: 15,523,117 (GRCm39) |
C1180R |
probably damaging |
Het |
Rasl2-9 |
A |
T |
7: 5,128,351 (GRCm39) |
L193* |
probably null |
Het |
Rbp3 |
A |
G |
14: 33,678,320 (GRCm39) |
K756R |
probably benign |
Het |
Rp1 |
T |
C |
1: 4,418,139 (GRCm39) |
E991G |
probably damaging |
Het |
Slc12a7 |
G |
A |
13: 73,938,796 (GRCm39) |
R191H |
probably damaging |
Het |
Spaca6 |
A |
G |
17: 18,052,321 (GRCm39) |
N87S |
possibly damaging |
Het |
Spata31e5 |
C |
T |
1: 28,817,225 (GRCm39) |
C269Y |
possibly damaging |
Het |
Speer1h |
T |
A |
5: 11,647,646 (GRCm39) |
M128K |
probably damaging |
Het |
Stab2 |
A |
T |
10: 86,709,728 (GRCm39) |
V1639E |
probably damaging |
Het |
Thpo |
T |
C |
16: 20,544,525 (GRCm39) |
N235S |
possibly damaging |
Het |
Tmem63b |
T |
A |
17: 45,971,722 (GRCm39) |
H831L |
probably benign |
Het |
Tomm20l |
T |
C |
12: 71,158,241 (GRCm39) |
V8A |
probably benign |
Het |
Trav13-5 |
A |
G |
14: 54,032,918 (GRCm39) |
R3G |
possibly damaging |
Het |
Vill |
T |
C |
9: 118,887,547 (GRCm39) |
S104P |
probably damaging |
Het |
|
Other mutations in F13b |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL00436:F13b
|
APN |
1 |
139,438,325 (GRCm39) |
missense |
probably benign |
0.01 |
IGL00937:F13b
|
APN |
1 |
139,445,098 (GRCm39) |
splice site |
probably benign |
|
IGL01138:F13b
|
APN |
1 |
139,444,950 (GRCm39) |
missense |
probably damaging |
0.99 |
IGL01319:F13b
|
APN |
1 |
139,434,531 (GRCm39) |
missense |
probably damaging |
0.98 |
IGL01328:F13b
|
APN |
1 |
139,435,820 (GRCm39) |
splice site |
probably benign |
|
IGL01621:F13b
|
APN |
1 |
139,431,589 (GRCm39) |
missense |
probably benign |
0.00 |
IGL01843:F13b
|
APN |
1 |
139,444,165 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02153:F13b
|
APN |
1 |
139,444,115 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02192:F13b
|
APN |
1 |
139,445,071 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02555:F13b
|
APN |
1 |
139,444,924 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL03036:F13b
|
APN |
1 |
139,435,853 (GRCm39) |
missense |
possibly damaging |
0.80 |
IGL03185:F13b
|
APN |
1 |
139,444,124 (GRCm39) |
missense |
probably benign |
0.03 |
IGL03303:F13b
|
APN |
1 |
139,440,774 (GRCm39) |
missense |
possibly damaging |
0.67 |
IGL03335:F13b
|
APN |
1 |
139,450,124 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL03371:F13b
|
APN |
1 |
139,434,674 (GRCm39) |
missense |
probably damaging |
1.00 |
R0139:F13b
|
UTSW |
1 |
139,435,941 (GRCm39) |
missense |
probably damaging |
0.96 |
R0157:F13b
|
UTSW |
1 |
139,431,585 (GRCm39) |
missense |
probably benign |
|
R0381:F13b
|
UTSW |
1 |
139,438,597 (GRCm39) |
missense |
probably damaging |
0.98 |
R0492:F13b
|
UTSW |
1 |
139,450,297 (GRCm39) |
splice site |
probably null |
|
R0589:F13b
|
UTSW |
1 |
139,434,671 (GRCm39) |
missense |
possibly damaging |
0.94 |
R1462:F13b
|
UTSW |
1 |
139,435,374 (GRCm39) |
missense |
probably damaging |
1.00 |
R1462:F13b
|
UTSW |
1 |
139,435,374 (GRCm39) |
missense |
probably damaging |
1.00 |
R1515:F13b
|
UTSW |
1 |
139,438,703 (GRCm39) |
missense |
probably damaging |
1.00 |
R1869:F13b
|
UTSW |
1 |
139,438,672 (GRCm39) |
missense |
probably benign |
0.44 |
R2047:F13b
|
UTSW |
1 |
139,435,961 (GRCm39) |
missense |
probably damaging |
1.00 |
R2218:F13b
|
UTSW |
1 |
139,434,582 (GRCm39) |
missense |
probably benign |
0.42 |
R2878:F13b
|
UTSW |
1 |
139,429,485 (GRCm39) |
start codon destroyed |
probably null |
|
R3032:F13b
|
UTSW |
1 |
139,445,071 (GRCm39) |
missense |
probably damaging |
1.00 |
R4077:F13b
|
UTSW |
1 |
139,429,508 (GRCm39) |
missense |
unknown |
|
R4079:F13b
|
UTSW |
1 |
139,429,508 (GRCm39) |
missense |
unknown |
|
R4208:F13b
|
UTSW |
1 |
139,444,079 (GRCm39) |
missense |
probably damaging |
1.00 |
R4350:F13b
|
UTSW |
1 |
139,444,036 (GRCm39) |
missense |
probably benign |
0.00 |
R4674:F13b
|
UTSW |
1 |
139,429,542 (GRCm39) |
missense |
unknown |
|
R4675:F13b
|
UTSW |
1 |
139,429,542 (GRCm39) |
missense |
unknown |
|
R4972:F13b
|
UTSW |
1 |
139,438,661 (GRCm39) |
missense |
probably damaging |
1.00 |
R5212:F13b
|
UTSW |
1 |
139,440,725 (GRCm39) |
missense |
probably benign |
|
R5343:F13b
|
UTSW |
1 |
139,438,282 (GRCm39) |
missense |
possibly damaging |
0.61 |
R5503:F13b
|
UTSW |
1 |
139,450,281 (GRCm39) |
missense |
probably benign |
0.00 |
R5984:F13b
|
UTSW |
1 |
139,435,950 (GRCm39) |
missense |
probably damaging |
1.00 |
R7012:F13b
|
UTSW |
1 |
139,444,096 (GRCm39) |
missense |
probably benign |
|
R7155:F13b
|
UTSW |
1 |
139,435,895 (GRCm39) |
missense |
probably damaging |
1.00 |
R7250:F13b
|
UTSW |
1 |
139,444,227 (GRCm39) |
critical splice donor site |
probably null |
|
R7478:F13b
|
UTSW |
1 |
139,435,433 (GRCm39) |
missense |
probably benign |
0.01 |
R7779:F13b
|
UTSW |
1 |
139,444,124 (GRCm39) |
missense |
probably benign |
0.03 |
R7960:F13b
|
UTSW |
1 |
139,431,509 (GRCm39) |
nonsense |
probably null |
|
R8007:F13b
|
UTSW |
1 |
139,434,680 (GRCm39) |
missense |
probably benign |
0.11 |
R8043:F13b
|
UTSW |
1 |
139,450,186 (GRCm39) |
missense |
probably benign |
|
R9034:F13b
|
UTSW |
1 |
139,435,961 (GRCm39) |
missense |
probably damaging |
1.00 |
Z1088:F13b
|
UTSW |
1 |
139,435,940 (GRCm39) |
missense |
probably benign |
0.15 |
|
Predicted Primers |
PCR Primer
(F):5'- CCAGACATGTTTATTGTTGTCCTTG -3'
(R):5'- TGCAAGCATTAGTGTCTGTCCATG -3'
Sequencing Primer
(F):5'- ATTCACAATCCTCCCATGCTACTAC -3'
(R):5'- GCATTAGTGTCTGTCCATGAATAGAC -3'
|
Posted On |
2020-07-28 |