Incidental Mutation 'IGL03335:F13b'
ID |
416987 |
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 # |
IGL03335
|
Quality Score |
|
Status
|
|
Chromosome |
1 |
Chromosomal Location |
139429440-139451490 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to T
at 139450124 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Leucine to Phenylalanine
at position 595
(L595F)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000027615
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000027615]
|
AlphaFold |
Q07968 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000027615
AA Change: L595F
PolyPhen 2
Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
|
SMART Domains |
Protein: ENSMUSP00000027615 Gene: ENSMUSG00000026368 AA Change: L595F
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: 38 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abcb4 |
T |
C |
5: 8,985,258 (GRCm39) |
V713A |
probably benign |
Het |
Abtb3 |
A |
T |
10: 85,494,222 (GRCm39) |
|
probably benign |
Het |
Actr8 |
T |
C |
14: 29,700,514 (GRCm39) |
V31A |
probably benign |
Het |
Alcam |
A |
C |
16: 52,111,366 (GRCm39) |
Y244* |
probably null |
Het |
Ankrd24 |
A |
G |
10: 81,482,967 (GRCm39) |
S972G |
probably benign |
Het |
Aox1 |
T |
A |
1: 58,115,319 (GRCm39) |
V768E |
probably damaging |
Het |
Carmil2 |
A |
G |
8: 106,423,661 (GRCm39) |
I1212V |
probably benign |
Het |
Catsper1 |
C |
T |
19: 5,386,339 (GRCm39) |
R191C |
probably damaging |
Het |
Cenpe |
T |
A |
3: 134,949,386 (GRCm39) |
V57D |
probably benign |
Het |
Cpsf3 |
T |
C |
12: 21,356,888 (GRCm39) |
|
probably null |
Het |
Cubn |
A |
G |
2: 13,365,140 (GRCm39) |
S1633P |
probably damaging |
Het |
Dsg1c |
G |
A |
18: 20,416,754 (GRCm39) |
R885Q |
probably benign |
Het |
Egfl6 |
C |
A |
X: 165,321,689 (GRCm39) |
G272W |
probably damaging |
Het |
Ermard |
T |
C |
17: 15,279,668 (GRCm39) |
L486P |
probably damaging |
Het |
Foxm1 |
A |
G |
6: 128,349,531 (GRCm39) |
N350S |
possibly damaging |
Het |
Fras1 |
T |
C |
5: 96,881,803 (GRCm39) |
|
probably benign |
Het |
Gpr152 |
C |
A |
19: 4,193,770 (GRCm39) |
T437N |
possibly damaging |
Het |
Icmt |
T |
A |
4: 152,385,154 (GRCm39) |
Y205* |
probably null |
Het |
Ints8 |
A |
T |
4: 11,216,460 (GRCm39) |
F844I |
probably damaging |
Het |
Mep1a |
T |
A |
17: 43,788,064 (GRCm39) |
D664V |
possibly damaging |
Het |
Muc4 |
T |
A |
16: 32,574,449 (GRCm39) |
N966K |
probably benign |
Het |
Myo7b |
T |
A |
18: 32,118,073 (GRCm39) |
Q851L |
possibly damaging |
Het |
Pdzd2 |
T |
C |
15: 12,373,850 (GRCm39) |
H2095R |
probably benign |
Het |
Phldb1 |
A |
G |
9: 44,639,366 (GRCm39) |
L4P |
possibly damaging |
Het |
Pkd1l2 |
G |
A |
8: 117,792,484 (GRCm39) |
T436I |
probably benign |
Het |
Pnpla8 |
T |
A |
12: 44,329,947 (GRCm39) |
N166K |
probably benign |
Het |
Qrfprl |
T |
C |
6: 65,430,101 (GRCm39) |
|
probably null |
Het |
Rapgef2 |
A |
G |
3: 79,006,492 (GRCm39) |
M137T |
probably damaging |
Het |
Rbm15b |
G |
A |
9: 106,761,538 (GRCm39) |
H877Y |
probably damaging |
Het |
Rbm45 |
T |
C |
2: 76,206,777 (GRCm39) |
L263P |
probably damaging |
Het |
Rprd1b |
T |
C |
2: 157,916,884 (GRCm39) |
V288A |
probably damaging |
Het |
Tmtc3 |
C |
A |
10: 100,302,116 (GRCm39) |
V278L |
probably damaging |
Het |
Tomm70a |
A |
G |
16: 56,970,289 (GRCm39) |
T556A |
probably damaging |
Het |
Trpc7 |
T |
C |
13: 57,035,504 (GRCm39) |
E143G |
probably damaging |
Het |
Trpm3 |
G |
T |
19: 22,903,435 (GRCm39) |
|
probably null |
Het |
Ugt2b34 |
T |
C |
5: 87,054,499 (GRCm39) |
E94G |
probably benign |
Het |
Vmn1r174 |
T |
C |
7: 23,453,937 (GRCm39) |
V201A |
probably benign |
Het |
Zfp352 |
T |
C |
4: 90,112,583 (GRCm39) |
F241S |
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 |
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 |
2016-08-02 |