Incidental Mutation 'R9034:F13b'
| ID |
687201 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
F13b
|
| Ensembl Gene |
ENSMUSG00000026368 |
| Gene Name |
coagulation factor XIII, beta subunit |
| Synonyms |
Cf-13b, Cf13b |
| MMRRC Submission |
068863-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R9034 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
1 |
| Chromosomal Location |
139429440-139451490 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 139435961 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Cysteine to Arginine
at position 256
(C256R)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000027615
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000027615]
|
| AlphaFold |
Q07968 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000027615
AA Change: C256R
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000027615
Gene: ENSMUSG00000026368
AA Change: C256R
| 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: 99.9%
- 10x: 99.4%
- 20x: 97.9%
|
| Validation Efficiency |
95% (57/60) |
| 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: 62 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca9 |
T |
C |
11: 110,039,615 (GRCm39) |
D466G |
probably benign |
Het |
| Acvr2a |
T |
C |
2: 48,763,381 (GRCm39) |
Y142H |
probably damaging |
Het |
| Agfg1 |
C |
T |
1: 82,853,913 (GRCm39) |
Q188* |
probably null |
Het |
| Akap11 |
C |
A |
14: 78,748,299 (GRCm39) |
V1363F |
|
Het |
| Aldh3a1 |
A |
G |
11: 61,104,475 (GRCm39) |
T121A |
probably benign |
Het |
| Arid1b |
T |
A |
17: 5,387,180 (GRCm39) |
D1491E |
probably benign |
Het |
| Baz2a |
A |
G |
10: 127,952,268 (GRCm39) |
T617A |
probably damaging |
Het |
| Cacna1c |
T |
C |
6: 118,728,359 (GRCm39) |
M362V |
|
Het |
| Cant1 |
T |
A |
11: 118,302,128 (GRCm39) |
H63L |
probably benign |
Het |
| Cdkn2aip |
C |
A |
8: 48,164,243 (GRCm39) |
C490F |
probably damaging |
Het |
| Cenpn |
T |
A |
8: 117,661,478 (GRCm39) |
D192E |
probably benign |
Het |
| Clint1 |
C |
A |
11: 45,799,782 (GRCm39) |
L514M |
probably benign |
Het |
| Clint1 |
T |
A |
11: 45,799,783 (GRCm39) |
L514Q |
possibly damaging |
Het |
| Cmklr1 |
G |
C |
5: 113,752,043 (GRCm39) |
H319Q |
probably benign |
Het |
| Cspg5 |
T |
C |
9: 110,080,089 (GRCm39) |
F419S |
probably damaging |
Het |
| Ehmt2 |
C |
A |
17: 35,122,417 (GRCm39) |
A328E |
probably benign |
Het |
| Ercc6l2 |
T |
C |
13: 63,992,447 (GRCm39) |
S299P |
probably damaging |
Het |
| F830016B08Rik |
A |
G |
18: 60,433,141 (GRCm39) |
T75A |
probably damaging |
Het |
| Fam227a |
T |
C |
15: 79,532,952 (GRCm39) |
M69V |
probably benign |
Het |
| Gm40460 |
GCAGCAGCTGGACTGGCAGCAGCAGGGCTTACAGCAGCTGGACTGGCAGCAGCAGGGCTTACAGCAGCTGGACTGGCAGCAGCAGGGCTTACAGCAGCTGGACTGGCAGCAG |
GCAGCAGCTGGACTGGCAGCAGCAGGGCTTACAGCAGCTGGACTGGCAGCAGCAGGGCTTACAGCAGCTGGACTGGCAGCAG |
7: 141,794,171 (GRCm39) |
|
probably benign |
Het |
| Grin2c |
C |
T |
11: 115,142,065 (GRCm39) |
E785K |
probably damaging |
Het |
| H2-M2 |
A |
T |
17: 37,792,176 (GRCm39) |
S325T |
probably benign |
Het |
| Hmgcr |
A |
G |
13: 96,795,885 (GRCm39) |
S261P |
probably damaging |
Het |
| Impg1 |
T |
A |
9: 80,347,351 (GRCm39) |
|
probably benign |
Het |
| Irag2 |
T |
C |
6: 145,083,273 (GRCm39) |
V4A |
probably benign |
Het |
| Krit1 |
A |
G |
5: 3,862,996 (GRCm39) |
|
probably benign |
Het |
| Krtap26-1 |
A |
T |
16: 88,444,161 (GRCm39) |
N153K |
probably benign |
Het |
| Mfsd14b |
G |
T |
13: 65,223,500 (GRCm39) |
A178E |
probably damaging |
Het |
| Muc4 |
CAC |
CACTAC |
16: 32,575,367 (GRCm39) |
|
probably benign |
Het |
| Myh6 |
A |
T |
14: 55,185,596 (GRCm39) |
I1531N |
possibly damaging |
Het |
| Myo7a |
G |
T |
7: 97,728,465 (GRCm39) |
A836D |
probably benign |
Het |
| Ncam1 |
A |
T |
9: 49,481,198 (GRCm39) |
S19T |
probably benign |
Het |
| Nes |
T |
A |
3: 87,885,735 (GRCm39) |
D1331E |
probably damaging |
Het |
| Nsd2 |
G |
A |
5: 34,037,478 (GRCm39) |
R700Q |
possibly damaging |
Het |
| Nxt1 |
A |
T |
2: 148,517,331 (GRCm39) |
Y24F |
possibly damaging |
Het |
| Or14c39 |
G |
A |
7: 86,343,969 (GRCm39) |
V102I |
probably benign |
Het |
| Or52n4 |
T |
A |
7: 104,293,835 (GRCm39) |
H248L |
probably damaging |
Het |
| Or5g24-ps1 |
A |
T |
2: 85,464,144 (GRCm39) |
T124S |
probably benign |
Het |
| Or6f2 |
G |
A |
7: 139,756,884 (GRCm39) |
V284I |
probably benign |
Het |
| Or8b40 |
G |
A |
9: 38,027,550 (GRCm39) |
V158M |
possibly damaging |
Het |
| Or8g50 |
G |
A |
9: 39,648,886 (GRCm39) |
M258I |
probably benign |
Het |
| Or9g20 |
G |
T |
2: 85,630,302 (GRCm39) |
A104E |
possibly damaging |
Het |
| Pex5l |
T |
A |
3: 33,006,683 (GRCm39) |
Q562L |
probably damaging |
Het |
| Plxna2 |
A |
G |
1: 194,476,197 (GRCm39) |
Y1139C |
probably damaging |
Het |
| Prelp |
T |
C |
1: 133,842,329 (GRCm39) |
N272S |
probably damaging |
Het |
| Rtkn2 |
A |
G |
10: 67,841,416 (GRCm39) |
K188R |
probably damaging |
Het |
| Sbno2 |
G |
A |
10: 79,898,591 (GRCm39) |
R624W |
probably damaging |
Het |
| Scn8a |
T |
A |
15: 100,927,642 (GRCm39) |
C1374S |
probably damaging |
Het |
| Serpina1e |
T |
A |
12: 103,917,361 (GRCm39) |
T103S |
probably benign |
Het |
| Sh3tc2 |
A |
G |
18: 62,107,571 (GRCm39) |
E194G |
probably benign |
Het |
| Slc36a3 |
A |
T |
11: 55,016,515 (GRCm39) |
I360N |
probably damaging |
Het |
| Sphk1 |
T |
C |
11: 116,426,449 (GRCm39) |
V135A |
probably damaging |
Het |
| Tnfsf10 |
G |
A |
3: 27,389,379 (GRCm39) |
D147N |
probably benign |
Het |
| Tnip2 |
C |
T |
5: 34,671,177 (GRCm39) |
C22Y |
probably damaging |
Het |
| Trmt9b |
C |
T |
8: 36,978,954 (GRCm39) |
R186* |
probably null |
Het |
| Trp73 |
T |
C |
4: 154,152,088 (GRCm39) |
T187A |
probably benign |
Het |
| Tspan33 |
C |
T |
6: 29,717,611 (GRCm39) |
Q276* |
probably null |
Het |
| Ttn |
C |
T |
2: 76,542,871 (GRCm39) |
G33372R |
probably damaging |
Het |
| Vmn2r31 |
T |
A |
7: 7,397,680 (GRCm39) |
T193S |
probably benign |
Het |
| Vps54 |
T |
C |
11: 21,213,273 (GRCm39) |
F19L |
probably benign |
Het |
| Vwa8 |
A |
G |
14: 79,296,179 (GRCm39) |
T856A |
probably damaging |
Het |
| Zscan4b |
A |
T |
7: 10,634,840 (GRCm39) |
Y468N |
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 |
|
|
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 |
|
Z1088:F13b
|
UTSW |
1 |
139,435,940 (GRCm39) |
missense |
probably benign |
0.15 |
|
| Predicted Primers |
PCR Primer
(F):5'- GCCAGTAACATTCCGTGTCTTTTAG -3'
(R):5'- ACGAAGCTCAGTTTCTTCAGAG -3'
Sequencing Primer
(F):5'- CAATTAGAACTGCTGGTTTTTAGC -3'
(R):5'- TCATGGAGAACAAAGCTATT -3'
|
| Posted On |
2021-11-19 |
Incidental Mutation