Incidental Mutation 'IGL02153:F13b'
| ID |
282140 |
| 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 # |
IGL02153
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
1 |
| Chromosomal Location |
139429440-139451490 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 139444115 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Threonine
at position 483
(I483T)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000027615
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000027615]
|
| AlphaFold |
Q07968 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000027615
AA Change: I483T
PolyPhen 2
Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
|
| SMART Domains |
Protein: ENSMUSP00000027615
Gene: ENSMUSG00000026368
AA Change: I483T
| 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: 45 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 6820408C15Rik |
T |
C |
2: 152,283,161 (GRCm39) |
I275T |
probably benign |
Het |
| Chd9 |
A |
T |
8: 91,683,122 (GRCm39) |
K521* |
probably null |
Het |
| Csn3 |
A |
T |
5: 88,077,956 (GRCm39) |
N154I |
possibly damaging |
Het |
| Dock2 |
A |
G |
11: 34,180,670 (GRCm39) |
S1716P |
probably benign |
Het |
| Dock7 |
A |
T |
4: 98,846,304 (GRCm39) |
S18T |
probably benign |
Het |
| Esrra |
G |
A |
19: 6,891,190 (GRCm39) |
T190I |
probably benign |
Het |
| Foxb1 |
T |
A |
9: 69,666,985 (GRCm39) |
M182L |
probably benign |
Het |
| Fsip2 |
T |
C |
2: 82,809,065 (GRCm39) |
F1795L |
probably benign |
Het |
| Gkn2 |
G |
A |
6: 87,350,390 (GRCm39) |
|
probably null |
Het |
| Gm8439 |
G |
A |
4: 120,466,787 (GRCm39) |
A93T |
unknown |
Het |
| Ift22 |
T |
C |
5: 136,940,550 (GRCm39) |
S72P |
probably benign |
Het |
| Kcnmb2 |
A |
G |
3: 32,232,993 (GRCm39) |
K24E |
probably damaging |
Het |
| Kcnq3 |
C |
A |
15: 65,897,040 (GRCm39) |
V287L |
probably damaging |
Het |
| Lrriq1 |
T |
A |
10: 103,006,340 (GRCm39) |
M1262L |
probably benign |
Het |
| Mb21d2 |
A |
G |
16: 28,748,240 (GRCm39) |
I59T |
probably benign |
Het |
| Mogat2 |
A |
T |
7: 98,872,761 (GRCm39) |
M141K |
possibly damaging |
Het |
| Mtdh |
C |
T |
15: 34,131,396 (GRCm39) |
L409F |
possibly damaging |
Het |
| Muc5ac |
C |
T |
7: 141,372,537 (GRCm39) |
Q2724* |
probably null |
Het |
| Myo15a |
T |
G |
11: 60,389,223 (GRCm39) |
L2040R |
probably damaging |
Het |
| Nodal |
C |
T |
10: 61,260,324 (GRCm39) |
T325I |
probably damaging |
Het |
| Pappa |
A |
T |
4: 65,215,674 (GRCm39) |
T1194S |
probably damaging |
Het |
| Pcdhb13 |
A |
C |
18: 37,576,738 (GRCm39) |
D372A |
probably damaging |
Het |
| Phf14 |
T |
A |
6: 11,934,015 (GRCm39) |
N292K |
probably damaging |
Het |
| Pigr |
T |
A |
1: 130,776,793 (GRCm39) |
|
probably null |
Het |
| Plcb1 |
T |
C |
2: 135,229,773 (GRCm39) |
I1131T |
probably benign |
Het |
| Plch1 |
T |
A |
3: 63,688,772 (GRCm39) |
D132V |
probably damaging |
Het |
| Plxnb2 |
C |
A |
15: 89,050,016 (GRCm39) |
E502* |
probably null |
Het |
| Prox2 |
T |
C |
12: 85,134,703 (GRCm39) |
N526S |
probably damaging |
Het |
| Rdm1 |
T |
A |
11: 101,519,280 (GRCm39) |
|
probably null |
Het |
| Rxfp1 |
C |
T |
3: 79,567,427 (GRCm39) |
E308K |
probably benign |
Het |
| Sgca |
T |
C |
11: 94,854,110 (GRCm39) |
T120A |
probably damaging |
Het |
| Sh3tc1 |
G |
A |
5: 35,860,696 (GRCm39) |
R1054W |
probably damaging |
Het |
| Smarcal1 |
C |
T |
1: 72,672,214 (GRCm39) |
|
probably benign |
Het |
| Spata45 |
T |
A |
1: 190,771,958 (GRCm39) |
M60K |
probably benign |
Het |
| St8sia6 |
T |
C |
2: 13,661,716 (GRCm39) |
M372V |
probably damaging |
Het |
| Tas2r126 |
T |
G |
6: 42,411,598 (GRCm39) |
S44A |
probably benign |
Het |
| Tcea3 |
T |
A |
4: 136,000,945 (GRCm39) |
|
probably benign |
Het |
| Thoc2l |
A |
G |
5: 104,668,949 (GRCm39) |
E1157G |
probably benign |
Het |
| Tln1 |
T |
C |
4: 43,546,857 (GRCm39) |
I840V |
possibly damaging |
Het |
| Ttn |
T |
C |
2: 76,728,685 (GRCm39) |
|
probably benign |
Het |
| Ubr4 |
T |
A |
4: 139,187,471 (GRCm39) |
Y3846* |
probably null |
Het |
| Usp47 |
G |
A |
7: 111,703,256 (GRCm39) |
D1171N |
probably benign |
Het |
| Vmn2r114 |
G |
A |
17: 23,510,782 (GRCm39) |
T566I |
probably benign |
Het |
| Wdr35 |
G |
A |
12: 9,058,535 (GRCm39) |
R575Q |
probably null |
Het |
| Xkr5 |
A |
T |
8: 18,983,683 (GRCm39) |
C454S |
probably benign |
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 |
|
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 |
|
|
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 |
Incidental Mutation