Incidental Mutation 'R7478:F13b'
ID |
579589 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
F13b
|
Ensembl Gene |
ENSMUSG00000026368 |
Gene Name |
coagulation factor XIII, beta subunit |
Synonyms |
Cf-13b, Cf13b |
MMRRC Submission |
045552-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R7478 (G1)
|
Quality Score |
225.009 |
Status
|
Validated
|
Chromosome |
1 |
Chromosomal Location |
139429440-139451490 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 139435433 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Threonine to Alanine
at position 193
(T193A)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000027615
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000027615]
|
AlphaFold |
Q07968 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000027615
AA Change: T193A
PolyPhen 2
Score 0.006 (Sensitivity: 0.97; Specificity: 0.75)
|
SMART Domains |
Protein: ENSMUSP00000027615 Gene: ENSMUSG00000026368 AA Change: T193A
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 |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.6%
- 20x: 98.9%
|
Validation Efficiency |
100% (50/50) |
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: 49 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Ahcyl2 |
A |
G |
6: 29,903,266 (GRCm39) |
R516G |
probably damaging |
Het |
Ak9 |
T |
C |
10: 41,265,087 (GRCm39) |
F948S |
|
Het |
Aldh3b3 |
A |
G |
19: 4,014,549 (GRCm39) |
M95V |
probably benign |
Het |
Ankrd34a |
T |
C |
3: 96,505,816 (GRCm39) |
L340P |
possibly damaging |
Het |
Arid1a |
T |
A |
4: 133,412,482 (GRCm39) |
R1186W |
unknown |
Het |
Arpc4 |
T |
A |
6: 113,361,092 (GRCm39) |
M95K |
possibly damaging |
Het |
Atrnl1 |
A |
G |
19: 57,684,744 (GRCm39) |
E790G |
possibly damaging |
Het |
C130074G19Rik |
T |
C |
1: 184,606,624 (GRCm39) |
N103D |
probably damaging |
Het |
C1ra |
G |
A |
6: 124,494,684 (GRCm39) |
E316K |
probably benign |
Het |
Camsap2 |
T |
C |
1: 136,198,678 (GRCm39) |
T782A |
|
Het |
Catsperd |
A |
G |
17: 56,971,055 (GRCm39) |
I706M |
probably benign |
Het |
Cbx2 |
T |
C |
11: 118,919,941 (GRCm39) |
V502A |
probably damaging |
Het |
Cd72 |
T |
G |
4: 43,454,515 (GRCm39) |
I5L |
possibly damaging |
Het |
Celsr3 |
A |
G |
9: 108,720,777 (GRCm39) |
Y2609C |
probably benign |
Het |
Col19a1 |
C |
T |
1: 24,356,788 (GRCm39) |
G632R |
probably damaging |
Het |
Efcc1 |
T |
C |
6: 87,707,972 (GRCm39) |
V33A |
probably damaging |
Het |
Eif4enif1 |
T |
A |
11: 3,177,709 (GRCm39) |
L367* |
probably null |
Het |
Eml2 |
T |
A |
7: 18,940,066 (GRCm39) |
L627* |
probably null |
Het |
Hif3a |
G |
A |
7: 16,776,560 (GRCm39) |
T462I |
possibly damaging |
Het |
Ifna7 |
T |
A |
4: 88,734,913 (GRCm39) |
I150N |
probably damaging |
Het |
Man2b2 |
G |
A |
5: 36,967,657 (GRCm39) |
H904Y |
probably damaging |
Het |
Midn |
A |
G |
10: 79,991,156 (GRCm39) |
T389A |
possibly damaging |
Het |
Myo19 |
A |
T |
11: 84,776,626 (GRCm39) |
H94L |
probably benign |
Het |
Naglu |
T |
C |
11: 100,962,725 (GRCm39) |
Y177H |
probably damaging |
Het |
Nek1 |
T |
A |
8: 61,583,179 (GRCm39) |
D1272E |
probably benign |
Het |
Nxn |
A |
T |
11: 76,152,378 (GRCm39) |
V372E |
probably damaging |
Het |
Obscn |
G |
A |
11: 58,984,242 (GRCm39) |
R1738C |
probably damaging |
Het |
Pcm1 |
A |
G |
8: 41,714,410 (GRCm39) |
E266G |
probably benign |
Het |
Pkd1l1 |
T |
C |
11: 8,879,441 (GRCm39) |
N920S |
|
Het |
Pkd1l3 |
C |
A |
8: 110,359,947 (GRCm39) |
T944K |
probably damaging |
Het |
Prl7d1 |
C |
A |
13: 27,894,168 (GRCm39) |
E133* |
probably null |
Het |
Qser1 |
G |
A |
2: 104,619,859 (GRCm39) |
L228F |
probably damaging |
Het |
Rasa3 |
A |
G |
8: 13,664,605 (GRCm39) |
I69T |
possibly damaging |
Het |
Rb1 |
A |
T |
14: 73,506,577 (GRCm39) |
S391T |
probably damaging |
Het |
Rnf220 |
T |
C |
4: 117,153,333 (GRCm39) |
Y301C |
possibly damaging |
Het |
Sertm1 |
A |
G |
3: 54,806,749 (GRCm39) |
V92A |
possibly damaging |
Het |
Slfn5 |
A |
G |
11: 82,851,442 (GRCm39) |
K580E |
probably damaging |
Het |
Stard4 |
T |
C |
18: 33,338,377 (GRCm39) |
Y111C |
unknown |
Het |
Tagap |
C |
A |
17: 8,152,422 (GRCm39) |
Q536K |
possibly damaging |
Het |
Tank |
T |
C |
2: 61,480,513 (GRCm39) |
C351R |
probably damaging |
Het |
Tarbp2 |
A |
T |
15: 102,430,169 (GRCm39) |
M144L |
probably benign |
Het |
Tdrd9 |
T |
C |
12: 111,951,476 (GRCm39) |
Y89H |
probably damaging |
Het |
Tecpr2 |
C |
A |
12: 110,934,873 (GRCm39) |
T1373K |
probably benign |
Het |
Tle1 |
G |
A |
4: 72,055,349 (GRCm39) |
P434L |
probably damaging |
Het |
Tmed5 |
A |
G |
5: 108,272,495 (GRCm39) |
V201A |
probably benign |
Het |
Ust |
A |
G |
10: 8,266,650 (GRCm39) |
|
probably null |
Het |
Vmn2r94 |
T |
C |
17: 18,477,767 (GRCm39) |
T215A |
probably benign |
Het |
Zfp273 |
A |
T |
13: 67,973,251 (GRCm39) |
Q126H |
probably benign |
Het |
Zfp764l1 |
C |
T |
7: 126,992,496 (GRCm39) |
C38Y |
probably null |
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 |
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 |
|
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'- GGGTCTTGGCAAAGCTTATCAATG -3'
(R):5'- ATACCAGCCAAAGTTATAGCACTG -3'
Sequencing Primer
(F):5'- CGACGCAGAGAACATTCA -3'
(R):5'- TGCTTTACAGGATGAAAATAGCC -3'
|
Posted On |
2019-10-07 |