Incidental Mutation 'R5212:F13b'
ID |
403159 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
F13b
|
Ensembl Gene |
ENSMUSG00000026368 |
Gene Name |
coagulation factor XIII, beta subunit |
Synonyms |
Cf-13b, Cf13b |
MMRRC Submission |
042786-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R5212 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
1 |
Chromosomal Location |
139429440-139451490 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to T
at 139440725 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Isoleucine to Phenylalanine
at position 394
(I394F)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000027615
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000027615]
|
AlphaFold |
Q07968 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000027615
AA Change: I394F
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
SMART Domains |
Protein: ENSMUSP00000027615 Gene: ENSMUSG00000026368 AA Change: I394F
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
|
Meta Mutation Damage Score |
0.0898 |
Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.7%
- 10x: 97.5%
- 20x: 95.7%
|
Validation Efficiency |
97% (58/60) |
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: 55 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
1110002E22Rik |
T |
A |
3: 137,771,611 (GRCm39) |
S267T |
possibly damaging |
Het |
Abca9 |
T |
C |
11: 109,998,052 (GRCm39) |
D1514G |
probably benign |
Het |
Adamtsl4 |
T |
A |
3: 95,584,980 (GRCm39) |
D896V |
probably damaging |
Het |
Amer2 |
A |
G |
14: 60,617,269 (GRCm39) |
Y362C |
probably damaging |
Het |
Arglu1 |
T |
A |
8: 8,733,843 (GRCm39) |
R158W |
probably damaging |
Het |
Arhgef7 |
A |
G |
8: 11,778,388 (GRCm39) |
E46G |
probably benign |
Het |
Atg2b |
A |
G |
12: 105,613,055 (GRCm39) |
V1172A |
probably benign |
Het |
Bhlhe23 |
T |
A |
2: 180,417,886 (GRCm39) |
K217N |
probably damaging |
Het |
Birc6 |
A |
C |
17: 74,977,369 (GRCm39) |
N4388T |
probably damaging |
Het |
Ccp110 |
C |
T |
7: 118,328,919 (GRCm39) |
A845V |
probably damaging |
Het |
Cd63 |
A |
G |
10: 128,747,722 (GRCm39) |
Y105C |
probably damaging |
Het |
Cdk11b |
T |
C |
4: 155,723,072 (GRCm39) |
|
probably null |
Het |
Clip1 |
T |
A |
5: 123,768,744 (GRCm39) |
R618S |
probably benign |
Het |
Crybg1 |
A |
T |
10: 43,843,739 (GRCm39) |
F1731L |
possibly damaging |
Het |
Dock1 |
A |
C |
7: 134,390,923 (GRCm39) |
K728Q |
possibly damaging |
Het |
Emc2 |
A |
G |
15: 43,374,240 (GRCm39) |
E180G |
probably damaging |
Het |
Fnta |
A |
G |
8: 26,499,735 (GRCm39) |
I155T |
probably benign |
Het |
Fshr |
T |
A |
17: 89,293,685 (GRCm39) |
E331V |
probably benign |
Het |
Fshr |
T |
A |
17: 89,293,684 (GRCm39) |
E331D |
probably benign |
Het |
Gas2l1 |
A |
T |
11: 5,011,108 (GRCm39) |
C574S |
probably benign |
Het |
Ggnbp2 |
T |
A |
11: 84,744,847 (GRCm39) |
|
probably benign |
Het |
Gm3371 |
A |
C |
14: 44,641,111 (GRCm39) |
|
probably benign |
Het |
Gm7489 |
T |
A |
15: 53,749,016 (GRCm39) |
|
probably benign |
Het |
Hand1 |
A |
C |
11: 57,722,273 (GRCm39) |
F114V |
probably damaging |
Het |
Itga4 |
A |
C |
2: 79,110,939 (GRCm39) |
H259P |
probably damaging |
Het |
Jakmip1 |
A |
T |
5: 37,262,245 (GRCm39) |
H183L |
probably benign |
Het |
Kifbp |
A |
T |
10: 62,398,908 (GRCm39) |
|
probably benign |
Het |
Krt8 |
G |
T |
15: 101,906,402 (GRCm39) |
A369D |
possibly damaging |
Het |
Krt82 |
T |
C |
15: 101,453,484 (GRCm39) |
S301G |
probably damaging |
Het |
Lig3 |
A |
G |
11: 82,678,504 (GRCm39) |
T248A |
probably benign |
Het |
Madcam1 |
C |
G |
10: 79,504,179 (GRCm39) |
T255S |
probably benign |
Het |
Med20 |
T |
C |
17: 47,929,775 (GRCm39) |
Y71H |
probably benign |
Het |
Mtss2 |
A |
G |
8: 111,455,850 (GRCm39) |
I107V |
probably damaging |
Het |
Nans |
T |
C |
4: 46,502,547 (GRCm39) |
F328S |
possibly damaging |
Het |
Ncbp3 |
A |
G |
11: 72,944,373 (GRCm39) |
|
probably benign |
Het |
Nek8 |
T |
C |
11: 78,063,342 (GRCm39) |
M1V |
probably null |
Het |
Nufip1 |
A |
T |
14: 76,370,538 (GRCm39) |
N413I |
possibly damaging |
Het |
Pbx3 |
T |
C |
2: 34,178,793 (GRCm39) |
|
probably benign |
Het |
Plppr3 |
C |
T |
10: 79,698,279 (GRCm39) |
G419R |
probably benign |
Het |
Rfx1 |
G |
T |
8: 84,793,221 (GRCm39) |
|
probably benign |
Het |
Rnpepl1 |
C |
T |
1: 92,839,045 (GRCm39) |
A68V |
probably benign |
Het |
Rsbn1l |
A |
T |
5: 21,101,212 (GRCm39) |
M776K |
probably benign |
Het |
Setd7 |
A |
T |
3: 51,450,238 (GRCm39) |
Y63N |
probably damaging |
Het |
Slc45a2 |
C |
T |
15: 11,027,871 (GRCm39) |
T480I |
probably damaging |
Het |
Snap47 |
T |
C |
11: 59,319,178 (GRCm39) |
E320G |
probably damaging |
Het |
Spaca6 |
C |
A |
17: 18,058,656 (GRCm39) |
P68Q |
probably benign |
Het |
Tdrd3 |
G |
C |
14: 87,743,651 (GRCm39) |
R527P |
probably damaging |
Het |
Tmprss2 |
G |
T |
16: 97,377,492 (GRCm39) |
Q202K |
probably benign |
Het |
Tmprss6 |
A |
G |
15: 78,330,460 (GRCm39) |
V69A |
probably damaging |
Het |
Trav6-1 |
A |
T |
14: 52,876,161 (GRCm39) |
Q27L |
probably benign |
Het |
Ttn |
C |
T |
2: 76,731,957 (GRCm39) |
|
probably benign |
Het |
Ttn |
T |
C |
2: 76,619,945 (GRCm39) |
I15908V |
probably benign |
Het |
Ttn |
T |
A |
2: 76,628,019 (GRCm39) |
D12931V |
probably damaging |
Het |
Ush2a |
T |
A |
1: 188,176,902 (GRCm39) |
|
probably null |
Het |
Wls |
A |
G |
3: 159,578,645 (GRCm39) |
N69S |
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 |
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 |
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 |
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'- GAACCTCTTTATCACTGTTGGC -3'
(R):5'- TTCTTACCCAAGCAGACAGG -3'
Sequencing Primer
(F):5'- TGGCTTTACCATCAAGAAAAGAAG -3'
(R):5'- CTTACCCAAGCAGACAGGTGGAG -3'
|
Posted On |
2016-07-22 |