Incidental Mutation 'IGL02188:F13a1'
| ID |
283758 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
F13a1
|
| Ensembl Gene |
ENSMUSG00000039109 |
| Gene Name |
coagulation factor XIII, A1 subunit |
| Synonyms |
Factor XIIIA, 1200014I03Rik |
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
IGL02188
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
13 |
| Chromosomal Location |
37051152-37234220 bp(-) (GRCm39) |
| Type of Mutation |
splice site |
| DNA Base Change (assembly) |
A to G
at 37090035 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000128316
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000037491]
[ENSMUST00000164727]
|
| AlphaFold |
Q8BH61 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000037491
|
| SMART Domains |
Protein: ENSMUSP00000048667
Gene: ENSMUSG00000039109
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Transglut_N
|
47 |
165 |
9e-34 |
PFAM |
|
TGc
|
307 |
400 |
2.01e-45 |
SMART |
|
Pfam:Transglut_C
|
519 |
623 |
2e-26 |
PFAM |
|
Pfam:Transglut_C
|
631 |
728 |
1.3e-21 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000164727
|
| SMART Domains |
Protein: ENSMUSP00000128316
Gene: ENSMUSG00000039109
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Transglut_N
|
46 |
167 |
3e-38 |
PFAM |
|
TGc
|
307 |
400 |
2.01e-45 |
SMART |
|
Pfam:Transglut_C
|
519 |
623 |
2.2e-23 |
PFAM |
|
Pfam:Transglut_C
|
631 |
728 |
1.1e-22 |
PFAM |
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: This gene encodes subunit A of the coagulation factor XIII that catalyzes the final step of the blood coagulation pathway. The encoded protein associates with subunit B to form a heterotetrameric proenzyme that undergoes thrombin-mediated proteolysis to generate active factor XIIIa. The transglutaminase activity of factor XIIIa is required for the calcium-dependent crosslinking of fibrin, leading to the formation of a clot. Mice lacking the encoded protein display impaired reproduction and reduced survival due to bleeding episodes, hematothorax, hematoperitoneum and subcutaneous hemorrhage. Additionally, mice lacking the encoded protein exhibit impaired wound healing and inadequate healing of myocardial infarction. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Sep 2015]
PHENOTYPE: Homozygous mutant mice exhibit bleeding symptoms, increased lethality, and impaired fertility. [provided by MGI curators]
|
| Allele List at MGI |
All alleles(2) : Targeted, knock-out(2) |
| Other mutations in this stock |
Total: 37 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Afap1 |
A |
G |
5: 36,093,421 (GRCm39) |
N56S |
probably benign |
Het |
| Asb18 |
A |
G |
1: 89,924,021 (GRCm39) |
C81R |
probably benign |
Het |
| Ccl25 |
A |
C |
8: 4,398,552 (GRCm39) |
|
probably benign |
Het |
| Cdh13 |
A |
G |
8: 119,578,500 (GRCm39) |
T176A |
probably benign |
Het |
| Cnrip1 |
A |
G |
11: 17,028,398 (GRCm39) |
|
probably null |
Het |
| Dnmt1 |
A |
T |
9: 20,853,034 (GRCm39) |
C62* |
probably null |
Het |
| Eepd1 |
T |
C |
9: 25,493,188 (GRCm39) |
F311L |
probably benign |
Het |
| Extl3 |
A |
G |
14: 65,313,154 (GRCm39) |
L676P |
probably damaging |
Het |
| Galnt12 |
C |
T |
4: 47,122,521 (GRCm39) |
R267W |
probably damaging |
Het |
| Gm5150 |
T |
A |
3: 16,017,826 (GRCm39) |
K148N |
possibly damaging |
Het |
| Haus8 |
G |
T |
8: 71,710,059 (GRCm39) |
A51E |
probably damaging |
Het |
| Hyal5 |
T |
C |
6: 24,877,035 (GRCm39) |
Y303H |
probably damaging |
Het |
| Itga5 |
C |
T |
15: 103,256,144 (GRCm39) |
R936H |
probably benign |
Het |
| Itgb4 |
A |
G |
11: 115,894,213 (GRCm39) |
N1282S |
probably benign |
Het |
| Krt26 |
C |
T |
11: 99,224,471 (GRCm39) |
R349Q |
probably benign |
Het |
| Matn4 |
C |
T |
2: 164,242,786 (GRCm39) |
R104H |
probably benign |
Het |
| Mideas |
T |
C |
12: 84,209,100 (GRCm39) |
I667M |
probably benign |
Het |
| Myg1 |
T |
C |
15: 102,245,876 (GRCm39) |
I238T |
probably benign |
Het |
| Myo7a |
C |
T |
7: 97,740,234 (GRCm39) |
A598T |
probably damaging |
Het |
| Nbea |
T |
A |
3: 55,891,258 (GRCm39) |
I1604L |
probably benign |
Het |
| Nfx1 |
G |
A |
4: 40,993,827 (GRCm39) |
G547R |
probably damaging |
Het |
| Or5b113 |
A |
T |
19: 13,342,396 (GRCm39) |
M135L |
probably benign |
Het |
| Or5b113 |
A |
T |
19: 13,342,643 (GRCm39) |
Y217F |
probably damaging |
Het |
| Pelp1 |
T |
A |
11: 70,300,718 (GRCm39) |
I41F |
unknown |
Het |
| Pla2g2f |
T |
C |
4: 138,479,518 (GRCm39) |
|
probably benign |
Het |
| Rab19 |
T |
A |
6: 39,360,968 (GRCm39) |
S39T |
probably benign |
Het |
| Samd8 |
T |
C |
14: 21,833,866 (GRCm39) |
|
probably null |
Het |
| Sec16a |
T |
C |
2: 26,326,020 (GRCm39) |
D1219G |
probably damaging |
Het |
| Slc2a4 |
C |
T |
11: 69,837,156 (GRCm39) |
M1I |
probably null |
Het |
| Slc44a1 |
T |
C |
4: 53,541,361 (GRCm39) |
V273A |
probably benign |
Het |
| Spata31f1e |
T |
A |
4: 42,791,994 (GRCm39) |
|
probably null |
Het |
| Svep1 |
T |
C |
4: 58,068,382 (GRCm39) |
T3135A |
possibly damaging |
Het |
| Tnnc1 |
T |
C |
14: 30,932,617 (GRCm39) |
L100P |
possibly damaging |
Het |
| Ubr3 |
C |
T |
2: 69,789,955 (GRCm39) |
R870* |
probably null |
Het |
| Usp28 |
T |
C |
9: 48,935,309 (GRCm39) |
S87P |
probably benign |
Het |
| Xylt1 |
T |
A |
7: 117,233,964 (GRCm39) |
V497E |
probably damaging |
Het |
| Zfp318 |
C |
T |
17: 46,707,736 (GRCm39) |
R265* |
probably null |
Het |
|
| Other mutations in F13a1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01304:F13a1
|
APN |
13 |
37,172,852 (GRCm39) |
missense |
probably benign |
0.11 |
|
IGL01444:F13a1
|
APN |
13 |
37,102,551 (GRCm39) |
missense |
probably null |
1.00 |
|
IGL02591:F13a1
|
APN |
13 |
37,082,031 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02660:F13a1
|
APN |
13 |
37,127,868 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
IGL03244:F13a1
|
APN |
13 |
37,172,870 (GRCm39) |
missense |
possibly damaging |
0.82 |
|
IGL03401:F13a1
|
APN |
13 |
37,082,054 (GRCm39) |
missense |
probably benign |
0.00 |
|
F6893:F13a1
|
UTSW |
13 |
37,155,999 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0082:F13a1
|
UTSW |
13 |
37,172,927 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R0657:F13a1
|
UTSW |
13 |
37,152,079 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R1225:F13a1
|
UTSW |
13 |
37,209,825 (GRCm39) |
missense |
probably benign |
|
|
R1430:F13a1
|
UTSW |
13 |
37,082,105 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1608:F13a1
|
UTSW |
13 |
37,052,785 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1883:F13a1
|
UTSW |
13 |
37,172,981 (GRCm39) |
missense |
probably benign |
0.01 |
|
R2115:F13a1
|
UTSW |
13 |
37,172,831 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2121:F13a1
|
UTSW |
13 |
37,209,653 (GRCm39) |
missense |
probably benign |
0.01 |
|
R2122:F13a1
|
UTSW |
13 |
37,209,653 (GRCm39) |
missense |
probably benign |
0.01 |
|
R2125:F13a1
|
UTSW |
13 |
37,076,815 (GRCm39) |
missense |
probably benign |
0.15 |
|
R2392:F13a1
|
UTSW |
13 |
37,127,971 (GRCm39) |
missense |
possibly damaging |
0.65 |
|
R3618:F13a1
|
UTSW |
13 |
37,127,967 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3625:F13a1
|
UTSW |
13 |
37,082,067 (GRCm39) |
missense |
probably benign |
0.31 |
|
R3772:F13a1
|
UTSW |
13 |
37,082,108 (GRCm39) |
missense |
probably benign |
|
|
R3838:F13a1
|
UTSW |
13 |
37,231,398 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3857:F13a1
|
UTSW |
13 |
37,209,668 (GRCm39) |
missense |
probably benign |
0.32 |
|
R3937:F13a1
|
UTSW |
13 |
37,100,875 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4934:F13a1
|
UTSW |
13 |
37,061,736 (GRCm39) |
missense |
probably benign |
0.00 |
|
R4974:F13a1
|
UTSW |
13 |
37,100,837 (GRCm39) |
critical splice donor site |
probably null |
|
|
R5033:F13a1
|
UTSW |
13 |
37,172,830 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5194:F13a1
|
UTSW |
13 |
37,156,037 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5740:F13a1
|
UTSW |
13 |
37,082,178 (GRCm39) |
missense |
probably benign |
0.02 |
|
R5753:F13a1
|
UTSW |
13 |
37,082,082 (GRCm39) |
nonsense |
probably null |
|
|
R6188:F13a1
|
UTSW |
13 |
37,209,752 (GRCm39) |
missense |
probably benign |
0.12 |
|
R7048:F13a1
|
UTSW |
13 |
37,082,117 (GRCm39) |
missense |
probably benign |
0.02 |
|
R7197:F13a1
|
UTSW |
13 |
37,100,860 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7816:F13a1
|
UTSW |
13 |
37,209,745 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7843:F13a1
|
UTSW |
13 |
37,209,745 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7902:F13a1
|
UTSW |
13 |
37,172,913 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8124:F13a1
|
UTSW |
13 |
37,209,779 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8443:F13a1
|
UTSW |
13 |
37,209,692 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8856:F13a1
|
UTSW |
13 |
37,100,859 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8864:F13a1
|
UTSW |
13 |
37,061,753 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9026:F13a1
|
UTSW |
13 |
37,102,506 (GRCm39) |
missense |
probably null |
1.00 |
|
R9092:F13a1
|
UTSW |
13 |
37,089,993 (GRCm39) |
missense |
probably benign |
0.17 |
|
R9268:F13a1
|
UTSW |
13 |
37,076,910 (GRCm39) |
missense |
probably benign |
0.00 |
|
R9274:F13a1
|
UTSW |
13 |
37,052,761 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9497:F13a1
|
UTSW |
13 |
37,082,118 (GRCm39) |
missense |
probably benign |
0.05 |
|
R9645:F13a1
|
UTSW |
13 |
37,082,154 (GRCm39) |
missense |
probably benign |
|
|
Z1088:F13a1
|
UTSW |
13 |
37,172,986 (GRCm39) |
nonsense |
probably null |
|
|
| Posted On |
2015-04-16 |
Incidental Mutation