Incidental Mutation 'IGL03371:F13b'
| ID |
420307 |
| 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 # |
IGL03371
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
1 |
| Chromosomal Location |
139429440-139451490 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 139434674 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Cysteine to Serine
at position 147
(C147S)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000027615
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000027615]
|
| AlphaFold |
Q07968 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000027615
AA Change: C147S
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000027615
Gene: ENSMUSG00000026368
AA Change: C147S
| 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 |
|
| 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: 39 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Agk |
C |
T |
6: 40,371,576 (GRCm39) |
R358C |
probably benign |
Het |
| Ahnak |
G |
T |
19: 8,981,592 (GRCm39) |
V959F |
possibly damaging |
Het |
| Aoc1 |
C |
T |
6: 48,883,380 (GRCm39) |
R419C |
probably benign |
Het |
| Brf2 |
T |
C |
8: 27,615,872 (GRCm39) |
D171G |
probably benign |
Het |
| Cnot1 |
T |
C |
8: 96,501,344 (GRCm39) |
I75V |
possibly damaging |
Het |
| D430041D05Rik |
A |
G |
2: 104,078,719 (GRCm39) |
V1199A |
probably damaging |
Het |
| Dpp9 |
G |
A |
17: 56,494,377 (GRCm39) |
H861Y |
probably benign |
Het |
| Eddm3b |
G |
A |
14: 51,354,422 (GRCm39) |
D137N |
probably damaging |
Het |
| Erich3 |
A |
T |
3: 154,433,114 (GRCm39) |
I363F |
probably damaging |
Het |
| Fam186b |
T |
C |
15: 99,178,258 (GRCm39) |
E356G |
probably benign |
Het |
| Fat2 |
T |
A |
11: 55,201,990 (GRCm39) |
R361S |
probably benign |
Het |
| Fat4 |
A |
T |
3: 39,037,336 (GRCm39) |
I3663F |
possibly damaging |
Het |
| Haus3 |
C |
A |
5: 34,323,687 (GRCm39) |
E308* |
probably null |
Het |
| Ifna11 |
A |
G |
4: 88,738,412 (GRCm39) |
K73E |
probably benign |
Het |
| Itga10 |
A |
G |
3: 96,562,104 (GRCm39) |
K664E |
possibly damaging |
Het |
| L3mbtl4 |
G |
A |
17: 68,768,563 (GRCm39) |
V224M |
probably damaging |
Het |
| Mcf2l |
C |
A |
8: 13,051,298 (GRCm39) |
A378D |
probably damaging |
Het |
| Mixl1 |
T |
C |
1: 180,522,191 (GRCm39) |
N230S |
probably benign |
Het |
| Ncbp1 |
T |
A |
4: 46,171,991 (GRCm39) |
C786* |
probably null |
Het |
| Nup153 |
C |
T |
13: 46,836,628 (GRCm39) |
S1327N |
probably benign |
Het |
| Or4c12b |
A |
T |
2: 89,647,509 (GRCm39) |
T280S |
possibly damaging |
Het |
| Or8k18 |
A |
T |
2: 86,085,935 (GRCm39) |
I34N |
possibly damaging |
Het |
| Osr2 |
C |
A |
15: 35,301,000 (GRCm39) |
Y185* |
probably null |
Het |
| Ppp1r3b |
T |
C |
8: 35,851,403 (GRCm39) |
F81L |
possibly damaging |
Het |
| Ppp3r2 |
T |
A |
4: 49,681,630 (GRCm39) |
I107F |
probably damaging |
Het |
| Rin2 |
G |
A |
2: 145,727,846 (GRCm39) |
|
probably benign |
Het |
| Rpap1 |
A |
T |
2: 119,605,538 (GRCm39) |
|
probably benign |
Het |
| Slc12a4 |
A |
G |
8: 106,677,137 (GRCm39) |
Y466H |
probably null |
Het |
| Slc25a40 |
C |
T |
5: 8,477,442 (GRCm39) |
P9L |
probably benign |
Het |
| Slc27a1 |
T |
C |
8: 72,038,052 (GRCm39) |
S567P |
probably benign |
Het |
| Sox8 |
G |
A |
17: 25,786,414 (GRCm39) |
R430C |
probably damaging |
Het |
| Tacc2 |
T |
C |
7: 130,227,791 (GRCm39) |
V1492A |
possibly damaging |
Het |
| Taf5l |
A |
G |
8: 124,724,725 (GRCm39) |
S365P |
possibly damaging |
Het |
| Tet2 |
T |
A |
3: 133,173,312 (GRCm39) |
H1650L |
possibly damaging |
Het |
| Tmem117 |
G |
A |
15: 94,909,274 (GRCm39) |
R229H |
probably damaging |
Het |
| Ttc17 |
A |
G |
2: 94,216,450 (GRCm39) |
L79P |
probably damaging |
Het |
| Usp54 |
A |
T |
14: 20,639,436 (GRCm39) |
|
probably benign |
Het |
| Zfp455 |
T |
A |
13: 67,355,066 (GRCm39) |
C111* |
probably null |
Het |
| Zmym4 |
A |
C |
4: 126,808,881 (GRCm39) |
C389G |
possibly 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 |
|
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 |
Incidental Mutation