Incidental Mutation 'IGL01319:F13b'
| ID |
73977 |
| 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 # |
IGL01319
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
1 |
| Chromosomal Location |
139429440-139451490 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 139434531 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Asparagine to Serine
at position 99
(N99S)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000027615
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000027615]
|
| AlphaFold |
Q07968 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000027615
AA Change: N99S
PolyPhen 2
Score 0.980 (Sensitivity: 0.75; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000027615
Gene: ENSMUSG00000026368
AA Change: N99S
| 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: 43 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abhd18 |
T |
A |
3: 40,888,077 (GRCm39) |
V307E |
probably benign |
Het |
| Bub1b |
T |
C |
2: 118,445,475 (GRCm39) |
I265T |
possibly damaging |
Het |
| Cemip2 |
C |
T |
19: 21,822,121 (GRCm39) |
P1172L |
possibly damaging |
Het |
| Cntnap3 |
G |
A |
13: 64,935,651 (GRCm39) |
T404I |
probably damaging |
Het |
| Disc1 |
T |
C |
8: 125,814,630 (GRCm39) |
S165P |
probably damaging |
Het |
| Dock1 |
T |
C |
7: 134,391,007 (GRCm39) |
F756L |
probably benign |
Het |
| Dock2 |
A |
G |
11: 34,589,617 (GRCm39) |
V480A |
possibly damaging |
Het |
| Drc3 |
A |
G |
11: 60,255,788 (GRCm39) |
D125G |
probably null |
Het |
| Emid1 |
C |
T |
11: 5,093,859 (GRCm39) |
C96Y |
probably damaging |
Het |
| Fam20a |
A |
G |
11: 109,569,284 (GRCm39) |
|
probably benign |
Het |
| Fancd2 |
C |
A |
6: 113,561,860 (GRCm39) |
T1243K |
probably damaging |
Het |
| Fbxw14 |
T |
C |
9: 109,107,859 (GRCm39) |
K172E |
probably damaging |
Het |
| Gm13941 |
T |
C |
2: 110,925,150 (GRCm39) |
|
probably null |
Het |
| Gtpbp4 |
A |
T |
13: 9,035,296 (GRCm39) |
N354K |
probably benign |
Het |
| Igkv2-116 |
T |
C |
6: 68,129,388 (GRCm39) |
L50P |
probably benign |
Het |
| Klrb1-ps1 |
C |
T |
6: 129,093,548 (GRCm39) |
P23L |
possibly damaging |
Het |
| Kng2 |
T |
A |
16: 22,847,584 (GRCm39) |
I26F |
probably damaging |
Het |
| Krt81 |
G |
A |
15: 101,361,269 (GRCm39) |
H104Y |
probably benign |
Het |
| Lrpprc |
T |
C |
17: 85,012,840 (GRCm39) |
|
probably benign |
Het |
| Man2a2 |
C |
T |
7: 80,010,880 (GRCm39) |
V704M |
possibly damaging |
Het |
| Mbip |
A |
G |
12: 56,377,027 (GRCm39) |
V303A |
probably benign |
Het |
| Mipep |
A |
T |
14: 61,080,720 (GRCm39) |
M571L |
probably benign |
Het |
| Ncan |
A |
T |
8: 70,550,212 (GRCm39) |
V1188D |
probably damaging |
Het |
| Pcdhb4 |
T |
C |
18: 37,441,566 (GRCm39) |
V292A |
probably benign |
Het |
| Pkd1 |
T |
C |
17: 24,806,893 (GRCm39) |
|
probably benign |
Het |
| Ppp2r2c |
T |
A |
5: 37,104,465 (GRCm39) |
S282T |
possibly damaging |
Het |
| Rad54l2 |
C |
T |
9: 106,596,245 (GRCm39) |
G231D |
probably benign |
Het |
| Rnf20 |
T |
G |
4: 49,649,326 (GRCm39) |
D443E |
probably damaging |
Het |
| Rptor |
A |
G |
11: 119,781,996 (GRCm39) |
M1108V |
probably benign |
Het |
| Serpine2 |
A |
G |
1: 79,788,411 (GRCm39) |
V182A |
probably damaging |
Het |
| Sesn2 |
C |
T |
4: 132,227,278 (GRCm39) |
|
probably benign |
Het |
| Shank1 |
C |
A |
7: 44,002,547 (GRCm39) |
A1422E |
possibly damaging |
Het |
| Skic3 |
A |
G |
13: 76,277,498 (GRCm39) |
H491R |
probably benign |
Het |
| Slc13a4 |
C |
T |
6: 35,284,288 (GRCm39) |
|
probably null |
Het |
| Snrnp200 |
T |
C |
2: 127,072,047 (GRCm39) |
|
probably benign |
Het |
| Src |
G |
A |
2: 157,311,423 (GRCm39) |
G461R |
probably damaging |
Het |
| Tbxas1 |
A |
G |
6: 38,994,907 (GRCm39) |
I178V |
probably benign |
Het |
| Triml1 |
A |
G |
8: 43,594,434 (GRCm39) |
|
probably benign |
Het |
| Tsen2 |
A |
T |
6: 115,553,945 (GRCm39) |
Q441L |
probably damaging |
Het |
| Ttc23l |
A |
G |
15: 10,509,492 (GRCm39) |
|
probably benign |
Het |
| Ttn |
T |
C |
2: 76,711,648 (GRCm39) |
|
probably benign |
Het |
| Vsig10l |
C |
T |
7: 43,114,678 (GRCm39) |
S293L |
probably damaging |
Het |
| Zcchc13 |
C |
A |
X: 102,674,606 (GRCm39) |
Q110K |
possibly damaging |
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 |
|
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 |
|
|
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 |
2013-10-07 |
Incidental Mutation