Incidental Mutation 'R2218:F13b'
| ID |
241244 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
F13b
|
| Ensembl Gene |
ENSMUSG00000026368 |
| Gene Name |
coagulation factor XIII, beta subunit |
| Synonyms |
Cf-13b, Cf13b |
| MMRRC Submission |
040220-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R2218 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
1 |
| Chromosomal Location |
139429440-139451490 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to T
at 139434582 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Isoleucine
at position 116
(S116I)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000027615
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000027615]
|
| AlphaFold |
Q07968 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000027615
AA Change: S116I
PolyPhen 2
Score 0.421 (Sensitivity: 0.89; Specificity: 0.90)
|
| SMART Domains |
Protein: ENSMUSP00000027615
Gene: ENSMUSG00000026368
AA Change: S116I
| 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: 99.1%
- 3x: 98.6%
- 10x: 97.3%
- 20x: 95.2%
|
| 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: 41 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abitram |
G |
T |
4: 56,802,693 (GRCm39) |
V26L |
probably damaging |
Het |
| Acap3 |
A |
G |
4: 155,988,319 (GRCm39) |
|
probably null |
Het |
| Appl2 |
G |
T |
10: 83,444,601 (GRCm39) |
F472L |
possibly damaging |
Het |
| Atp13a5 |
A |
T |
16: 29,140,464 (GRCm39) |
V319D |
probably damaging |
Het |
| Atxn2 |
T |
C |
5: 121,941,140 (GRCm39) |
Y56H |
probably damaging |
Het |
| Brinp1 |
A |
G |
4: 68,680,952 (GRCm39) |
L526P |
probably damaging |
Het |
| Cacna1d |
C |
T |
14: 29,845,048 (GRCm39) |
D679N |
probably damaging |
Het |
| Canx |
C |
T |
11: 50,201,694 (GRCm39) |
V59I |
probably benign |
Het |
| Drd2 |
T |
C |
9: 49,311,094 (GRCm39) |
V115A |
probably damaging |
Het |
| Eml6 |
T |
A |
11: 29,768,907 (GRCm39) |
Q746L |
probably damaging |
Het |
| Flt4 |
T |
A |
11: 49,515,555 (GRCm39) |
S48T |
probably benign |
Het |
| Gcn1 |
C |
A |
5: 115,757,720 (GRCm39) |
S2475Y |
probably benign |
Het |
| Gls2 |
T |
C |
10: 128,040,583 (GRCm39) |
L328P |
probably damaging |
Het |
| Gm7535 |
A |
G |
17: 18,131,936 (GRCm39) |
|
probably benign |
Het |
| Htr3a |
T |
C |
9: 48,819,911 (GRCm39) |
Y73C |
probably damaging |
Het |
| Iapp |
G |
A |
6: 142,249,096 (GRCm39) |
A50T |
probably benign |
Het |
| Il10ra |
T |
C |
9: 45,176,914 (GRCm39) |
D137G |
probably benign |
Het |
| Krt35 |
T |
C |
11: 99,986,988 (GRCm39) |
S9G |
probably null |
Het |
| Lamc2 |
T |
A |
1: 153,006,525 (GRCm39) |
R875S |
probably benign |
Het |
| Mcoln1 |
C |
A |
8: 3,555,813 (GRCm39) |
T36K |
possibly damaging |
Het |
| Muc6 |
T |
C |
7: 141,233,227 (GRCm39) |
H885R |
probably benign |
Het |
| Nsrp1 |
A |
T |
11: 76,936,587 (GRCm39) |
Y536* |
probably null |
Het |
| Or10al4 |
A |
T |
17: 38,037,145 (GRCm39) |
I77F |
probably damaging |
Het |
| Polr2a |
A |
G |
11: 69,633,511 (GRCm39) |
|
probably null |
Het |
| Pp2d1 |
C |
A |
17: 53,822,482 (GRCm39) |
V195L |
probably benign |
Het |
| Rag1 |
T |
C |
2: 101,474,491 (GRCm39) |
H217R |
probably benign |
Het |
| Ramp2 |
A |
G |
11: 101,138,457 (GRCm39) |
E86G |
probably benign |
Het |
| Rcbtb2 |
T |
C |
14: 73,416,005 (GRCm39) |
|
probably null |
Het |
| Sema5a |
A |
T |
15: 32,631,455 (GRCm39) |
I613F |
probably damaging |
Het |
| Sgk1 |
C |
T |
10: 21,872,500 (GRCm39) |
R171W |
probably damaging |
Het |
| Slc39a11 |
C |
A |
11: 113,450,376 (GRCm39) |
|
probably null |
Het |
| Slc47a2 |
T |
C |
11: 61,204,497 (GRCm39) |
T285A |
probably benign |
Het |
| Timd2 |
T |
A |
11: 46,577,844 (GRCm39) |
I96L |
probably damaging |
Het |
| Tkt |
G |
T |
14: 30,289,018 (GRCm39) |
|
probably null |
Het |
| Tle1 |
A |
T |
4: 72,117,556 (GRCm39) |
F35I |
possibly damaging |
Het |
| Tmem64 |
T |
C |
4: 15,266,658 (GRCm39) |
I236T |
possibly damaging |
Het |
| Ttll13 |
A |
G |
7: 79,902,250 (GRCm39) |
K109R |
probably damaging |
Het |
| Virma |
T |
C |
4: 11,544,924 (GRCm39) |
S1628P |
probably damaging |
Het |
| Zan |
C |
A |
5: 137,408,568 (GRCm39) |
|
probably benign |
Het |
| Zbtb22 |
T |
G |
17: 34,136,939 (GRCm39) |
D361E |
probably damaging |
Het |
| Zfp608 |
T |
C |
18: 55,120,756 (GRCm39) |
N277S |
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 |
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- GATTACTGGCAACTAGTGAAAAGC -3'
(R):5'- AGCTGCCTGTCAAGCATTAAC -3'
Sequencing Primer
(F):5'- GATGCAAAAACAGTTTAGTGAAGTAC -3'
(R):5'- GTCAAGCATTAACCTCATCGCTG -3'
|
| Posted On |
2014-10-15 |
Incidental Mutation