Incidental Mutation 'R8374:F12'
| ID |
646590 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
F12
|
| Ensembl Gene |
ENSMUSG00000021492 |
| Gene Name |
coagulation factor XII (Hageman factor) |
| Synonyms |
FXII |
| MMRRC Submission |
067742-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.085)
|
| Stock # |
R8374 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
13 |
| Chromosomal Location |
55565771-55574606 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 55569144 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Cysteine to Serine
at position 238
(C238S)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000021948
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000021948]
[ENSMUST00000170921]
|
| AlphaFold |
Q80YC5 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000021948
AA Change: C238S
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000021948
Gene: ENSMUSG00000021492
AA Change: C238S
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
19 |
N/A |
INTRINSIC |
|
FN2
|
40 |
88 |
4.3e-24 |
SMART |
|
EGF
|
97 |
131 |
4.22e-4 |
SMART |
|
FN1
|
135 |
175 |
2.4e-13 |
SMART |
|
EGF
|
177 |
210 |
3.94e-4 |
SMART |
|
KR
|
215 |
297 |
6.88e-27 |
SMART |
|
low complexity region
|
302 |
320 |
N/A |
INTRINSIC |
|
Tryp_SPc
|
354 |
591 |
7.74e-90 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000170921
|
| SMART Domains |
Protein: ENSMUSP00000125771
Gene: ENSMUSG00000021492
| Domain | Start | End | E-Value | Type |
|---|
|
Tryp_SPc
|
2 |
137 |
3.4e-7 |
SMART |
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.8%
- 20x: 99.5%
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: This gene encodes a glycoprotein coagulation factor that plays an important role in the intrinsic pathway of blood coagulation and hemostasis. The encoded protein is an inactive zymogen that is autoactivated upon contact with negatively charged surfaces or misfolded protein aggregates. Mice lacking the encoded protein have a severe defect in forming stable fibrin clots. [provided by RefSeq, Apr 2015]
PHENOTYPE: Mice homozygous for a knock-out allele are protected from ischemic brain injury in an experimental stroke model, without exhibiting an increase in infarct-associated hemorrhage. Another null mouse shows decreased plasma bradykinin levels and prolonged activated partial thromboplastin times. [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 |
|---|
| Adamts15 |
C |
T |
9: 30,814,002 (GRCm39) |
G721E |
probably benign |
Het |
| Aip |
A |
T |
19: 4,165,456 (GRCm39) |
M170K |
probably damaging |
Het |
| Alms1 |
T |
C |
6: 85,585,973 (GRCm39) |
I276T |
probably benign |
Het |
| Arid1b |
C |
T |
17: 5,392,919 (GRCm39) |
P2097S |
possibly damaging |
Het |
| Astn1 |
T |
G |
1: 158,329,803 (GRCm39) |
N219K |
probably damaging |
Het |
| Cbx2 |
G |
T |
11: 118,918,969 (GRCm39) |
R178L |
probably damaging |
Het |
| Clptm1 |
G |
A |
7: 19,372,081 (GRCm39) |
P252S |
probably benign |
Het |
| Crebbp |
A |
G |
16: 3,902,175 (GRCm39) |
S2355P |
probably damaging |
Het |
| D130043K22Rik |
C |
A |
13: 25,041,962 (GRCm39) |
T297K |
probably benign |
Het |
| Ddx60 |
A |
G |
8: 62,427,205 (GRCm39) |
D760G |
probably benign |
Het |
| Dgka |
T |
C |
10: 128,557,112 (GRCm39) |
N621S |
probably benign |
Het |
| Ear10 |
A |
T |
14: 44,160,645 (GRCm39) |
C61S |
probably damaging |
Het |
| Fen1 |
A |
G |
19: 10,177,824 (GRCm39) |
F207L |
probably benign |
Het |
| Fzr1 |
A |
G |
10: 81,203,368 (GRCm39) |
L486P |
probably damaging |
Het |
| Gdnf |
A |
G |
15: 7,864,176 (GRCm39) |
R196G |
probably benign |
Het |
| Gldc |
A |
C |
19: 30,114,594 (GRCm39) |
F439V |
probably damaging |
Het |
| Gm3138 |
T |
C |
14: 4,251,688 (GRCm38) |
M120T |
probably damaging |
Het |
| Gpi1 |
G |
A |
7: 33,920,082 (GRCm39) |
A197V |
probably benign |
Het |
| Ighv1-4 |
T |
A |
12: 114,450,899 (GRCm39) |
I70F |
probably benign |
Het |
| Il19 |
A |
T |
1: 130,866,893 (GRCm39) |
L29Q |
probably damaging |
Het |
| Kank1 |
A |
T |
19: 25,389,005 (GRCm39) |
I893F |
probably damaging |
Het |
| Kcnq5 |
G |
A |
1: 21,549,648 (GRCm39) |
R360C |
probably damaging |
Het |
| Kif13b |
T |
C |
14: 65,025,884 (GRCm39) |
S1414P |
probably damaging |
Het |
| Miga2 |
AAGAG |
AAG |
2: 30,265,755 (GRCm39) |
|
probably null |
Het |
| Mosmo |
T |
A |
7: 120,329,715 (GRCm39) |
M112K |
probably benign |
Het |
| Ntmt2 |
A |
T |
1: 163,530,617 (GRCm39) |
M274K |
probably damaging |
Het |
| Or2d2b |
A |
G |
7: 106,706,033 (GRCm39) |
F12L |
probably damaging |
Het |
| Or2h1b |
C |
A |
17: 37,462,636 (GRCm39) |
V76F |
probably damaging |
Het |
| Or2w3b |
T |
A |
11: 58,623,724 (GRCm39) |
D89V |
probably damaging |
Het |
| Pak6 |
G |
A |
2: 118,524,477 (GRCm39) |
V497I |
probably benign |
Het |
| Ppargc1b |
G |
A |
18: 61,443,564 (GRCm39) |
S549F |
probably damaging |
Het |
| Rassf8 |
T |
A |
6: 145,760,863 (GRCm39) |
L63* |
probably null |
Het |
| Rptn |
G |
T |
3: 93,303,602 (GRCm39) |
G312* |
probably null |
Het |
| Rsph14 |
T |
C |
10: 74,797,481 (GRCm39) |
I169V |
probably benign |
Het |
| Sltm |
A |
G |
9: 70,469,227 (GRCm39) |
D162G |
probably null |
Het |
| Tatdn1 |
C |
T |
15: 58,788,000 (GRCm39) |
|
probably null |
Het |
| Tbx4 |
A |
C |
11: 85,805,102 (GRCm39) |
E397A |
probably benign |
Het |
| Tdrd12 |
T |
C |
7: 35,177,486 (GRCm39) |
D956G |
unknown |
Het |
| Tnr |
G |
A |
1: 159,685,953 (GRCm39) |
V395I |
probably benign |
Het |
| Ugt1a2 |
A |
T |
1: 88,129,107 (GRCm39) |
H250L |
possibly damaging |
Het |
| Vmn1r173 |
C |
T |
7: 23,401,920 (GRCm39) |
H52Y |
probably damaging |
Het |
| Vps11 |
T |
C |
9: 44,267,706 (GRCm39) |
D302G |
probably benign |
Het |
| Zfp398 |
T |
C |
6: 47,836,468 (GRCm39) |
|
probably null |
Het |
|
| Other mutations in F12 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL02535:F12
|
APN |
13 |
55,574,157 (GRCm39) |
missense |
possibly damaging |
0.83 |
|
IGL02756:F12
|
APN |
13 |
55,568,880 (GRCm39) |
missense |
possibly damaging |
0.58 |
|
IGL03030:F12
|
APN |
13 |
55,569,332 (GRCm39) |
intron |
probably benign |
|
|
R0049:F12
|
UTSW |
13 |
55,574,130 (GRCm39) |
missense |
probably benign |
0.00 |
|
R0049:F12
|
UTSW |
13 |
55,574,130 (GRCm39) |
missense |
probably benign |
0.00 |
|
R0646:F12
|
UTSW |
13 |
55,570,296 (GRCm39) |
intron |
probably benign |
|
|
R1670:F12
|
UTSW |
13 |
55,569,346 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1896:F12
|
UTSW |
13 |
55,568,540 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3508:F12
|
UTSW |
13 |
55,568,872 (GRCm39) |
missense |
probably benign |
|
|
R3548:F12
|
UTSW |
13 |
55,565,950 (GRCm39) |
missense |
probably benign |
0.03 |
|
R3856:F12
|
UTSW |
13 |
55,569,035 (GRCm39) |
splice site |
probably null |
|
|
R4583:F12
|
UTSW |
13 |
55,568,943 (GRCm39) |
missense |
probably benign |
0.04 |
|
R5177:F12
|
UTSW |
13 |
55,567,981 (GRCm39) |
missense |
probably benign |
0.08 |
|
R5369:F12
|
UTSW |
13 |
55,566,304 (GRCm39) |
missense |
probably benign |
0.13 |
|
R5529:F12
|
UTSW |
13 |
55,569,872 (GRCm39) |
missense |
probably benign |
0.04 |
|
R5637:F12
|
UTSW |
13 |
55,570,228 (GRCm39) |
missense |
possibly damaging |
0.57 |
|
R6812:F12
|
UTSW |
13 |
55,569,658 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R7156:F12
|
UTSW |
13 |
55,566,310 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8007:F12
|
UTSW |
13 |
55,566,265 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8348:F12
|
UTSW |
13 |
55,566,301 (GRCm39) |
missense |
probably benign |
0.19 |
|
R8448:F12
|
UTSW |
13 |
55,566,301 (GRCm39) |
missense |
probably benign |
0.19 |
|
R8844:F12
|
UTSW |
13 |
55,568,198 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8976:F12
|
UTSW |
13 |
55,569,777 (GRCm39) |
intron |
probably benign |
|
|
R9779:F12
|
UTSW |
13 |
55,566,012 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- GTCATTATCTGGGTTCCTGCAATC -3'
(R):5'- CGACTTGGGTGAGTAAGACC -3'
Sequencing Primer
(F):5'- TTCCTGCAATCTCAAGAGGG -3'
(R):5'- TGAGTAAGACCCCGTGTGG -3'
|
| Posted On |
2020-09-02 |
Incidental Mutation