Incidental Mutation 'IGL03036:F13b'
| ID |
408695 |
| 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 # |
IGL03036
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
1 |
| Chromosomal Location |
139429440-139451490 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 139435853 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Valine
at position 220
(I220V)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000027615
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000027615]
|
| AlphaFold |
Q07968 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000027615
AA Change: I220V
PolyPhen 2
Score 0.796 (Sensitivity: 0.84; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000027615
Gene: ENSMUSG00000026368
AA Change: I220V
| 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 |
|
| 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: 60 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abhd17a |
A |
T |
10: 80,421,534 (GRCm39) |
Y145* |
probably null |
Het |
| Afdn |
T |
G |
17: 14,108,350 (GRCm39) |
I1291S |
probably benign |
Het |
| Arfgap3 |
T |
G |
15: 83,191,127 (GRCm39) |
I16L |
possibly damaging |
Het |
| Bbs12 |
T |
A |
3: 37,373,343 (GRCm39) |
H45Q |
possibly damaging |
Het |
| Brpf3 |
T |
C |
17: 29,043,022 (GRCm39) |
L1021P |
possibly damaging |
Het |
| Cep170 |
A |
G |
1: 176,596,903 (GRCm39) |
S485P |
possibly damaging |
Het |
| Cgref1 |
A |
T |
5: 31,090,937 (GRCm39) |
N292K |
probably damaging |
Het |
| Chst3 |
A |
T |
10: 60,022,261 (GRCm39) |
Y195* |
probably null |
Het |
| Clmn |
T |
C |
12: 104,740,782 (GRCm39) |
Y125C |
probably damaging |
Het |
| Col13a1 |
A |
G |
10: 61,729,692 (GRCm39) |
|
probably null |
Het |
| Cpeb3 |
A |
T |
19: 37,002,348 (GRCm39) |
I688N |
probably damaging |
Het |
| Cpn2 |
A |
T |
16: 30,079,647 (GRCm39) |
L18H |
probably benign |
Het |
| Crybg3 |
T |
A |
16: 59,375,542 (GRCm39) |
H1904L |
possibly damaging |
Het |
| Csde1 |
C |
T |
3: 102,951,155 (GRCm39) |
P249S |
probably damaging |
Het |
| Dcaf1 |
T |
C |
9: 106,721,339 (GRCm39) |
L377P |
probably damaging |
Het |
| Dmwd |
A |
T |
7: 18,815,054 (GRCm39) |
K568M |
probably damaging |
Het |
| Dsg2 |
T |
C |
18: 20,712,134 (GRCm39) |
I90T |
probably damaging |
Het |
| Dytn |
A |
G |
1: 63,680,281 (GRCm39) |
I426T |
probably damaging |
Het |
| Edc4 |
G |
A |
8: 106,613,943 (GRCm39) |
|
probably null |
Het |
| Elac1 |
G |
T |
18: 73,871,985 (GRCm39) |
Q337K |
probably benign |
Het |
| Exd2 |
G |
T |
12: 80,536,185 (GRCm39) |
A272S |
probably damaging |
Het |
| Fblim1 |
G |
T |
4: 141,310,435 (GRCm39) |
R276S |
possibly damaging |
Het |
| Fn1 |
A |
C |
1: 71,668,932 (GRCm39) |
L671R |
probably damaging |
Het |
| Frem1 |
A |
T |
4: 82,877,576 (GRCm39) |
F1334I |
possibly damaging |
Het |
| H2-T23 |
T |
A |
17: 36,343,249 (GRCm39) |
I43F |
possibly damaging |
Het |
| Hp1bp3 |
G |
A |
4: 137,956,043 (GRCm39) |
G202D |
probably damaging |
Het |
| Kdm5b |
A |
G |
1: 134,536,675 (GRCm39) |
M632V |
probably damaging |
Het |
| Klra5 |
T |
A |
6: 129,885,830 (GRCm39) |
S20C |
probably damaging |
Het |
| Lancl1 |
A |
T |
1: 67,046,074 (GRCm39) |
C276S |
probably damaging |
Het |
| Lect2 |
A |
G |
13: 56,690,520 (GRCm39) |
*152Q |
probably null |
Het |
| Maff |
C |
A |
15: 79,241,658 (GRCm39) |
S25* |
probably null |
Het |
| Mtr |
A |
G |
13: 12,262,263 (GRCm39) |
L171P |
probably damaging |
Het |
| Ndufs1 |
A |
T |
1: 63,202,855 (GRCm39) |
Y236* |
probably null |
Het |
| Neb |
A |
C |
2: 52,134,165 (GRCm39) |
Y3273D |
probably damaging |
Het |
| Nup133 |
A |
T |
8: 124,673,333 (GRCm39) |
I66K |
probably benign |
Het |
| Or4c110 |
T |
C |
2: 88,832,459 (GRCm39) |
M58V |
possibly damaging |
Het |
| Psmd14 |
A |
G |
2: 61,614,205 (GRCm39) |
Y200C |
probably damaging |
Het |
| Ptgds |
T |
C |
2: 25,359,622 (GRCm39) |
T22A |
probably benign |
Het |
| Ptk2b |
T |
A |
14: 66,411,344 (GRCm39) |
|
probably benign |
Het |
| Pum3 |
G |
A |
19: 27,398,713 (GRCm39) |
T279M |
probably damaging |
Het |
| Rabl6 |
C |
T |
2: 25,474,868 (GRCm39) |
G614D |
probably benign |
Het |
| Ripk3 |
T |
C |
14: 56,024,796 (GRCm39) |
D128G |
probably benign |
Het |
| Serinc4 |
A |
T |
2: 121,270,039 (GRCm39) |
|
probably benign |
Het |
| Slco1a8 |
T |
G |
6: 141,954,333 (GRCm39) |
I47L |
possibly damaging |
Het |
| Sorbs2 |
T |
C |
8: 46,235,902 (GRCm39) |
S322P |
probably benign |
Het |
| Spmap2l |
A |
C |
5: 77,164,197 (GRCm39) |
K67Q |
possibly damaging |
Het |
| Srebf1 |
A |
T |
11: 60,111,284 (GRCm39) |
I29N |
possibly damaging |
Het |
| Stk38l |
T |
C |
6: 146,670,372 (GRCm39) |
L238S |
probably damaging |
Het |
| Supt20 |
T |
A |
3: 54,616,723 (GRCm39) |
C298* |
probably null |
Het |
| Tbc1d19 |
A |
G |
5: 54,054,389 (GRCm39) |
D459G |
probably damaging |
Het |
| Ulk2 |
A |
T |
11: 61,725,660 (GRCm39) |
L139M |
probably damaging |
Het |
| Unc13b |
A |
G |
4: 43,235,249 (GRCm39) |
N3279S |
probably damaging |
Het |
| Ush2a |
A |
G |
1: 188,596,818 (GRCm39) |
R3853G |
possibly damaging |
Het |
| Usp7 |
C |
T |
16: 8,556,078 (GRCm39) |
M24I |
probably benign |
Het |
| Vil1 |
A |
G |
1: 74,458,771 (GRCm39) |
T131A |
probably damaging |
Het |
| Vmn2r2 |
C |
T |
3: 64,024,321 (GRCm39) |
M753I |
probably benign |
Het |
| Vmn2r74 |
A |
T |
7: 85,601,900 (GRCm39) |
Y579* |
probably null |
Het |
| Zdhhc3 |
A |
T |
9: 122,929,582 (GRCm39) |
Y18N |
probably damaging |
Het |
| Zfp609 |
C |
T |
9: 65,609,927 (GRCm39) |
S1012N |
possibly damaging |
Het |
| Zfr2 |
A |
T |
10: 81,077,985 (GRCm39) |
M271L |
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 |
|
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 |
2016-08-02 |
Incidental Mutation