Incidental Mutation 'R8007:F13b'
| ID |
616661 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
F13b
|
| Ensembl Gene |
ENSMUSG00000026368 |
| Gene Name |
coagulation factor XIII, beta subunit |
| Synonyms |
Cf-13b, Cf13b |
| MMRRC Submission |
046047-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R8007 (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 139434680 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Lysine to Glutamic Acid
at position 149
(K149E)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000027615
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000027615]
|
| AlphaFold |
Q07968 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000027615
AA Change: K149E
PolyPhen 2
Score 0.113 (Sensitivity: 0.93; Specificity: 0.86)
|
| SMART Domains |
Protein: ENSMUSP00000027615
Gene: ENSMUSG00000026368
AA Change: K149E
| 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: 100.0%
- 10x: 99.8%
- 20x: 99.4%
|
| Validation Efficiency |
100% (62/62) |
| 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: 63 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| A2m |
T |
A |
6: 121,647,845 (GRCm39) |
|
probably benign |
Het |
| A430033K04Rik |
T |
C |
5: 138,644,901 (GRCm39) |
I262T |
probably benign |
Het |
| Acacb |
A |
G |
5: 114,356,935 (GRCm39) |
R1289G |
probably damaging |
Het |
| Adgre4 |
A |
T |
17: 56,121,233 (GRCm39) |
H433L |
probably damaging |
Het |
| Adgrv1 |
A |
G |
13: 81,431,585 (GRCm39) |
F5948L |
probably benign |
Het |
| Adtrp |
A |
T |
13: 41,969,707 (GRCm39) |
D97E |
probably damaging |
Het |
| Anapc5 |
T |
C |
5: 122,929,963 (GRCm39) |
T543A |
probably benign |
Het |
| Ank2 |
G |
C |
3: 126,730,096 (GRCm39) |
|
probably benign |
Het |
| Cacna2d4 |
C |
T |
6: 119,289,405 (GRCm39) |
A813V |
probably benign |
Het |
| Cc2d2a |
T |
A |
5: 43,863,442 (GRCm39) |
Y684N |
possibly damaging |
Het |
| Cenpf |
G |
A |
1: 189,379,144 (GRCm39) |
P35L |
|
Het |
| Chtf18 |
A |
G |
17: 25,944,508 (GRCm39) |
F281L |
probably damaging |
Het |
| Clstn1 |
T |
C |
4: 149,716,305 (GRCm39) |
V257A |
probably damaging |
Het |
| Cnmd |
A |
T |
14: 79,875,406 (GRCm39) |
V338E |
probably damaging |
Het |
| Col6a3 |
A |
C |
1: 90,705,179 (GRCm39) |
F2848V |
unknown |
Het |
| Corin |
T |
C |
5: 72,473,446 (GRCm39) |
S888G |
probably damaging |
Het |
| Ctss |
A |
T |
3: 95,457,465 (GRCm39) |
S309C |
probably null |
Het |
| Dmxl2 |
G |
A |
9: 54,290,975 (GRCm39) |
Q2492* |
probably null |
Het |
| Exoc7 |
C |
T |
11: 116,197,465 (GRCm39) |
R12Q |
possibly damaging |
Het |
| F12 |
A |
G |
13: 55,566,265 (GRCm39) |
I509T |
probably damaging |
Het |
| Fasn |
A |
G |
11: 120,700,353 (GRCm39) |
I2159T |
probably benign |
Het |
| Fgfr2 |
A |
T |
7: 129,765,719 (GRCm39) |
Y831* |
probably null |
Het |
| Foxp1 |
A |
T |
6: 98,918,595 (GRCm39) |
S514R |
unknown |
Het |
| Gm11569 |
A |
G |
11: 99,689,688 (GRCm39) |
S4P |
unknown |
Het |
| Gria4 |
T |
C |
9: 4,503,740 (GRCm39) |
|
probably benign |
Het |
| Hnrnpul2 |
T |
A |
19: 8,798,179 (GRCm39) |
|
probably null |
Het |
| Ibtk |
A |
T |
9: 85,572,770 (GRCm39) |
D1257E |
probably benign |
Het |
| Ip6k2 |
T |
C |
9: 108,682,955 (GRCm39) |
V355A |
probably benign |
Het |
| Kcnd2 |
G |
A |
6: 21,217,073 (GRCm39) |
R259H |
probably damaging |
Het |
| Kcnj2 |
A |
C |
11: 110,963,884 (GRCm39) |
E425D |
probably benign |
Het |
| Ldlrad1 |
G |
A |
4: 107,066,688 (GRCm39) |
A8T |
probably benign |
Het |
| Lgi2 |
C |
A |
5: 52,723,375 (GRCm39) |
A25S |
probably benign |
Het |
| Lrp2 |
T |
C |
2: 69,336,849 (GRCm39) |
T1308A |
probably benign |
Het |
| Ly6g2 |
A |
G |
15: 75,088,552 (GRCm39) |
T7A |
probably benign |
Het |
| Matn2 |
A |
T |
15: 34,426,315 (GRCm39) |
N609I |
probably benign |
Het |
| Mocs2 |
T |
A |
13: 114,957,409 (GRCm39) |
S9T |
possibly damaging |
Het |
| Nebl |
T |
A |
2: 17,375,300 (GRCm39) |
I102F |
|
Het |
| Nudt19 |
A |
G |
7: 35,255,045 (GRCm39) |
V62A |
probably benign |
Het |
| Or10u4 |
T |
A |
10: 129,801,744 (GRCm39) |
D269V |
possibly damaging |
Het |
| Or12k8 |
T |
A |
2: 36,974,855 (GRCm39) |
R302W |
probably damaging |
Het |
| Or4a68 |
C |
T |
2: 89,270,684 (GRCm39) |
|
|
Het |
| Or4k42 |
A |
T |
2: 111,320,068 (GRCm39) |
V145E |
probably damaging |
Het |
| Pacrg |
A |
G |
17: 11,058,919 (GRCm39) |
|
probably benign |
Het |
| Pappa2 |
A |
G |
1: 158,609,874 (GRCm39) |
I1529T |
probably damaging |
Het |
| Pcdhga7 |
A |
T |
18: 37,849,946 (GRCm39) |
H651L |
probably benign |
Het |
| Plch2 |
A |
G |
4: 155,087,288 (GRCm39) |
L321P |
probably damaging |
Het |
| Ppargc1b |
A |
T |
18: 61,443,565 (GRCm39) |
S549T |
possibly damaging |
Het |
| Rtel1 |
T |
A |
2: 180,976,767 (GRCm39) |
N254K |
probably damaging |
Het |
| Rtl1 |
T |
C |
12: 109,558,060 (GRCm39) |
N1260D |
possibly damaging |
Het |
| Samd7 |
T |
A |
3: 30,812,531 (GRCm39) |
W324R |
probably damaging |
Het |
| Serpinb9e |
A |
G |
13: 33,435,605 (GRCm39) |
I13V |
probably benign |
Het |
| Skint10 |
A |
G |
4: 112,568,865 (GRCm39) |
L284S |
possibly damaging |
Het |
| Slc25a38 |
T |
A |
9: 119,951,208 (GRCm39) |
I247K |
possibly damaging |
Het |
| Smarce1 |
G |
C |
11: 99,115,876 (GRCm39) |
N48K |
possibly damaging |
Het |
| Stmn4 |
T |
G |
14: 66,593,032 (GRCm39) |
|
probably benign |
Het |
| Stt3a |
G |
C |
9: 36,653,065 (GRCm39) |
T539R |
probably damaging |
Het |
| Tab1 |
G |
A |
15: 80,042,969 (GRCm39) |
V388I |
possibly damaging |
Het |
| Tcf12 |
G |
C |
9: 71,841,905 (GRCm39) |
|
probably benign |
Het |
| Tcof1 |
G |
C |
18: 60,962,123 (GRCm39) |
A702G |
possibly damaging |
Het |
| Trp53inp1 |
T |
C |
4: 11,164,525 (GRCm39) |
F23S |
probably damaging |
Het |
| Vmn2r14 |
A |
T |
5: 109,368,324 (GRCm39) |
L223M |
probably benign |
Het |
| Yae1d1 |
G |
A |
13: 18,164,329 (GRCm39) |
S96L |
probably damaging |
Het |
| Zfp142 |
T |
C |
1: 74,610,655 (GRCm39) |
I1047V |
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 |
|
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 |
|
|
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'- TGAAGCCTGACCTAAGGAATG -3'
(R):5'- GGGTCTCTCACTTTGAGCAC -3'
Sequencing Primer
(F):5'- TGACCTAAGGAATGGCTACGTCTC -3'
(R):5'- ACTTGCTGAAGTTGAGAACCC -3'
|
| Posted On |
2020-01-23 |
Incidental Mutation