Incidental Mutation 'R2878:F13b'
| ID |
260151 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
F13b
|
| Ensembl Gene |
ENSMUSG00000026368 |
| Gene Name |
coagulation factor XIII, beta subunit |
| Synonyms |
Cf-13b, Cf13b |
| MMRRC Submission |
040466-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R2878 (G1)
|
| Quality Score |
199 |
|
Status
|
Validated
|
| Chromosome |
1 |
| Chromosomal Location |
139429440-139451490 bp(+) (GRCm39) |
| Type of Mutation |
start codon destroyed |
| DNA Base Change (assembly) |
T to C
at 139429485 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Methionine to Threonine
at position 1
(M1T)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000027615
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000027615]
|
| AlphaFold |
Q07968 |
| Predicted Effect |
probably null
Transcript: ENSMUST00000027615
AA Change: M1T
|
| SMART Domains |
Protein: ENSMUSP00000027615
Gene: ENSMUSG00000026368
AA Change: M1T
| 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 |
|
| Meta Mutation Damage Score |
0.9755 |
| Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.6%
- 10x: 97.3%
- 20x: 95.2%
|
| Validation Efficiency |
92% (58/63) |
| 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: 56 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca13 |
C |
T |
11: 9,241,889 (GRCm39) |
L1251F |
possibly damaging |
Het |
| Accsl |
A |
T |
2: 93,689,755 (GRCm39) |
M384K |
probably damaging |
Het |
| Adgrg7 |
A |
G |
16: 56,570,817 (GRCm39) |
F404L |
probably benign |
Het |
| Akr1c20 |
G |
A |
13: 4,557,774 (GRCm39) |
T251M |
probably damaging |
Het |
| Amph |
G |
A |
13: 19,288,437 (GRCm39) |
V309I |
possibly damaging |
Het |
| Ano2 |
T |
G |
6: 125,840,481 (GRCm39) |
F384C |
probably damaging |
Het |
| Aplf |
G |
A |
6: 87,645,409 (GRCm39) |
R32* |
probably null |
Het |
| Arhgef18 |
A |
G |
8: 3,482,759 (GRCm39) |
M155V |
probably benign |
Het |
| Atg2b |
A |
T |
12: 105,630,268 (GRCm39) |
Y374* |
probably null |
Het |
| Camkmt |
T |
C |
17: 85,738,979 (GRCm39) |
|
probably benign |
Het |
| Capn2 |
T |
A |
1: 182,344,798 (GRCm39) |
E41V |
probably benign |
Het |
| Cd53 |
T |
C |
3: 106,674,732 (GRCm39) |
T112A |
probably benign |
Het |
| Cyp2a4 |
G |
A |
7: 26,011,612 (GRCm39) |
E278K |
possibly damaging |
Het |
| Dact2 |
A |
T |
17: 14,416,176 (GRCm39) |
S675T |
probably damaging |
Het |
| Dync1li2 |
A |
C |
8: 105,156,047 (GRCm39) |
Y265D |
probably damaging |
Het |
| Eml4 |
T |
A |
17: 83,717,603 (GRCm39) |
H58Q |
probably benign |
Het |
| Fam83b |
A |
G |
9: 76,398,092 (GRCm39) |
F1004L |
probably damaging |
Het |
| Fbxo48 |
A |
G |
11: 16,903,382 (GRCm39) |
K3E |
possibly damaging |
Het |
| Fbxw13 |
A |
G |
9: 109,010,534 (GRCm39) |
F368S |
probably damaging |
Het |
| Fbxw19 |
A |
T |
9: 109,315,038 (GRCm39) |
W175R |
probably damaging |
Het |
| Fibcd1 |
G |
A |
2: 31,728,678 (GRCm39) |
P60S |
probably benign |
Het |
| Fscb |
A |
T |
12: 64,519,348 (GRCm39) |
V706E |
unknown |
Het |
| Gfm2 |
A |
G |
13: 97,289,757 (GRCm39) |
R181G |
possibly damaging |
Het |
| Gm17546 |
A |
T |
15: 95,727,805 (GRCm39) |
|
probably benign |
Het |
| Grin1 |
A |
G |
2: 25,187,641 (GRCm39) |
V594A |
probably damaging |
Het |
| Itpripl1 |
A |
G |
2: 126,983,534 (GRCm39) |
V196A |
probably benign |
Het |
| Kcns1 |
A |
G |
2: 164,006,682 (GRCm39) |
I427T |
probably damaging |
Het |
| Map3k19 |
T |
A |
1: 127,751,530 (GRCm39) |
E607V |
possibly damaging |
Het |
| Map3k4 |
T |
C |
17: 12,482,954 (GRCm39) |
S588G |
probably benign |
Het |
| Mslnl |
G |
A |
17: 25,961,908 (GRCm39) |
V128M |
probably damaging |
Het |
| Naa80 |
A |
T |
9: 107,460,367 (GRCm39) |
E87D |
possibly damaging |
Het |
| Nebl |
C |
A |
2: 17,439,740 (GRCm39) |
D178Y |
probably damaging |
Het |
| Nfatc3 |
C |
A |
8: 106,818,776 (GRCm39) |
T498K |
probably damaging |
Het |
| Nfkb2 |
G |
A |
19: 46,295,880 (GRCm39) |
R158H |
possibly damaging |
Het |
| Obscn |
T |
C |
11: 58,947,014 (GRCm39) |
E4337G |
possibly damaging |
Het |
| Or5b106 |
A |
G |
19: 13,123,771 (GRCm39) |
L84P |
probably benign |
Het |
| Palb2 |
A |
G |
7: 121,713,652 (GRCm39) |
V877A |
probably damaging |
Het |
| Rbm6 |
T |
C |
9: 107,729,649 (GRCm39) |
E333G |
probably damaging |
Het |
| Rem2 |
A |
G |
14: 54,713,819 (GRCm39) |
T31A |
possibly damaging |
Het |
| Ric1 |
A |
G |
19: 29,579,730 (GRCm39) |
D1224G |
possibly damaging |
Het |
| Rp1 |
A |
G |
1: 4,418,362 (GRCm39) |
S917P |
probably damaging |
Het |
| Scn2a |
G |
A |
2: 65,518,715 (GRCm39) |
G363D |
probably damaging |
Het |
| Shcbp1l |
A |
T |
1: 153,313,264 (GRCm39) |
|
probably benign |
Het |
| Skor2 |
G |
T |
18: 76,948,419 (GRCm39) |
E714* |
probably null |
Het |
| Slc15a1 |
T |
A |
14: 121,703,345 (GRCm39) |
K545N |
probably benign |
Het |
| Slc1a2 |
T |
A |
2: 102,591,512 (GRCm39) |
M414K |
probably damaging |
Het |
| Slc7a8 |
A |
G |
14: 54,997,143 (GRCm39) |
S70P |
probably damaging |
Het |
| Spopfm1 |
G |
T |
3: 94,173,787 (GRCm39) |
C265F |
possibly damaging |
Het |
| Taf1a |
A |
G |
1: 183,179,173 (GRCm39) |
E117G |
probably damaging |
Het |
| Trem2 |
A |
G |
17: 48,658,141 (GRCm39) |
D135G |
probably benign |
Het |
| Ttn |
T |
C |
2: 76,567,409 (GRCm39) |
D27828G |
probably damaging |
Het |
| Ulk4 |
T |
C |
9: 121,089,105 (GRCm39) |
D258G |
probably benign |
Het |
| Unc80 |
TGTATTCCAGGCG |
TG |
1: 66,710,735 (GRCm39) |
|
probably benign |
Het |
| Vmn2r56 |
A |
C |
7: 12,444,954 (GRCm39) |
M433R |
probably benign |
Het |
| Wdr45 |
C |
T |
X: 7,593,611 (GRCm39) |
P271S |
probably damaging |
Het |
| Zfp410 |
A |
C |
12: 84,378,411 (GRCm39) |
N245T |
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 |
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- GGCCTGTATTCATTATTTATGCTGC -3'
(R):5'- GCATTACAAAACTGGCATGTGAAAG -3'
Sequencing Primer
(F):5'- TCAGCTAATACTGGCACAATATTTTC -3'
(R):5'- GGCATGTGAAAGTGAAATATTAGGTC -3'
|
| Posted On |
2015-01-23 |
Incidental Mutation