Incidental Mutation 'IGL02555:F13b'
ID |
298474 |
Institutional Source |
Australian Phenomics Network
(link to record)
|
Gene Symbol |
F13b
|
Ensembl Gene |
ENSMUSG00000026368 |
Gene Name |
coagulation factor XIII, beta subunit |
Synonyms |
Cf-13b, Cf13b |
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
IGL02555
|
Quality Score |
|
Status
|
|
Chromosome |
1 |
Chromosomal Location |
139429440-139451490 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 139444924 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Cysteine to Arginine
at position 525
(C525R)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000027615
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000027615]
|
AlphaFold |
Q07968 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000027615
AA Change: C525R
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000027615 Gene: ENSMUSG00000026368 AA Change: C525R
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 |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000141842
|
Coding Region Coverage |
|
Validation Efficiency |
|
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: 33 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Actr1b |
G |
A |
1: 36,740,828 (GRCm39) |
R199C |
probably damaging |
Het |
Adam34l |
A |
T |
8: 44,078,305 (GRCm39) |
C640S |
probably damaging |
Het |
Adam9 |
T |
C |
8: 25,456,752 (GRCm39) |
N661D |
probably damaging |
Het |
Amy1 |
C |
T |
3: 113,358,541 (GRCm39) |
E164K |
probably benign |
Het |
Arid5b |
A |
C |
10: 67,937,734 (GRCm39) |
D221E |
probably benign |
Het |
B3galt1 |
G |
T |
2: 67,948,905 (GRCm39) |
V207F |
probably benign |
Het |
Begain |
A |
G |
12: 109,000,115 (GRCm39) |
S219P |
probably damaging |
Het |
Clip1 |
A |
G |
5: 123,759,857 (GRCm39) |
|
probably null |
Het |
Cps1 |
A |
G |
1: 67,253,180 (GRCm39) |
K1224R |
probably benign |
Het |
Dnm1 |
A |
G |
2: 32,218,050 (GRCm39) |
Y449H |
probably damaging |
Het |
Epas1 |
A |
T |
17: 87,136,492 (GRCm39) |
M755L |
probably benign |
Het |
Fmnl2 |
A |
G |
2: 53,016,863 (GRCm39) |
|
probably null |
Het |
Ighv5-15 |
A |
G |
12: 113,790,735 (GRCm39) |
F3L |
probably benign |
Het |
Inpp4a |
A |
G |
1: 37,419,049 (GRCm39) |
Q538R |
possibly damaging |
Het |
Insrr |
A |
T |
3: 87,721,124 (GRCm39) |
M1092L |
probably damaging |
Het |
Itgb8 |
C |
T |
12: 119,153,616 (GRCm39) |
V300M |
probably damaging |
Het |
Kcnk5 |
A |
T |
14: 20,192,053 (GRCm39) |
H369Q |
probably benign |
Het |
Ly6m |
G |
T |
15: 74,753,457 (GRCm39) |
|
probably benign |
Het |
Or1m1 |
T |
A |
9: 18,666,769 (GRCm39) |
H54L |
probably benign |
Het |
Or4a76 |
G |
A |
2: 89,460,547 (GRCm39) |
R232C |
probably damaging |
Het |
Or4k44 |
A |
G |
2: 111,368,262 (GRCm39) |
V124A |
probably damaging |
Het |
Or5m10 |
G |
A |
2: 85,717,742 (GRCm39) |
M199I |
probably benign |
Het |
Plxdc2 |
A |
G |
2: 16,734,152 (GRCm39) |
I417M |
probably benign |
Het |
Polr1a |
G |
A |
6: 71,897,441 (GRCm39) |
E186K |
probably damaging |
Het |
Ppp3cb |
A |
T |
14: 20,581,021 (GRCm39) |
F134L |
probably damaging |
Het |
Prox2 |
C |
T |
12: 85,142,034 (GRCm39) |
W56* |
probably null |
Het |
Scaf4 |
C |
T |
16: 90,047,193 (GRCm39) |
A395T |
unknown |
Het |
Sh3tc2 |
G |
T |
18: 62,123,308 (GRCm39) |
A690S |
probably damaging |
Het |
Slc34a1 |
T |
C |
13: 55,548,981 (GRCm39) |
S144P |
possibly damaging |
Het |
Slc6a6 |
C |
T |
6: 91,725,311 (GRCm39) |
|
probably benign |
Het |
Tubgcp3 |
A |
T |
8: 12,689,595 (GRCm39) |
M557K |
probably benign |
Het |
Vmn2r103 |
A |
T |
17: 20,031,873 (GRCm39) |
D549V |
probably damaging |
Het |
Washc2 |
T |
A |
6: 116,186,061 (GRCm39) |
N90K |
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 |
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 |
|
R8281:F13b
|
UTSW |
1 |
139,438,689 (GRCm39) |
missense |
probably benign |
0.03 |
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 |
|
Posted On |
2015-04-16 |