Incidental Mutation 'R7720:F11'
| ID |
595176 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
F11
|
| Ensembl Gene |
ENSMUSG00000031645 |
| Gene Name |
coagulation factor XI |
| Synonyms |
plasma thromboplastin antecedent, 1600027G01Rik, Cf11, FXI |
| MMRRC Submission |
067892-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.097)
|
| Stock # |
R7720 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
8 |
| Chromosomal Location |
45694211-45715068 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 45705127 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamic Acid to Glycine
at position 138
(E138G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000034064
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000034064]
|
| AlphaFold |
Q91Y47 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000034064
AA Change: E138G
PolyPhen 2
Score 0.893 (Sensitivity: 0.82; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000034064
Gene: ENSMUSG00000031645
AA Change: E138G
| Domain | Start | End | E-Value | Type |
|---|
|
APPLE
|
20 |
103 |
2.89e-29 |
SMART |
|
APPLE
|
110 |
193 |
1.02e-29 |
SMART |
|
APPLE
|
200 |
283 |
2.29e-32 |
SMART |
|
APPLE
|
291 |
376 |
1.04e-30 |
SMART |
|
Tryp_SPc
|
389 |
617 |
1.54e-98 |
SMART |
|
| Meta Mutation Damage Score |
0.2200 |
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.7%
- 20x: 99.1%
|
| Validation Efficiency |
100% (51/51) |
| MGI Phenotype |
FUNCTION: This gene encodes a glycoprotein coagulation factor that plays an important role in intrinsic pathway of blood coagulation and hemostasis. The encoded protein is an inactive zymogen that can be activated by coagulation factor XIIa, thrombin or factor XIa to generate active factor XIa protease. Mice lacking the encoded protein display a survival advantage during peritoneal sepsis and resist inflammation and bacterial accumulation upon infection with Listeria. [provided by RefSeq, Apr 2015]
PHENOTYPE: Mice homozygous for a knock-out allele show a tendency for slightly prolonged tail transection bleeding times and are protected from vessel-occluding fibrin formation after transient ischemic brain injury. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 53 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Agap2 |
A |
G |
10: 126,926,957 (GRCm39) |
D1018G |
probably damaging |
Het |
| Atm |
T |
C |
9: 53,433,539 (GRCm39) |
N237S |
possibly damaging |
Het |
| Card6 |
G |
T |
15: 5,127,905 (GRCm39) |
Q1164K |
unknown |
Het |
| Ccdc202 |
A |
G |
14: 96,119,548 (GRCm39) |
R102G |
probably benign |
Het |
| Cped1 |
G |
A |
6: 22,222,430 (GRCm39) |
C730Y |
probably damaging |
Het |
| Csmd1 |
A |
T |
8: 15,981,108 (GRCm39) |
L2770Q |
probably damaging |
Het |
| Ctsw |
T |
C |
19: 5,517,072 (GRCm39) |
T87A |
probably damaging |
Het |
| Dock4 |
T |
C |
12: 40,856,974 (GRCm39) |
I1269T |
probably damaging |
Het |
| Fam124b |
A |
G |
1: 80,177,974 (GRCm39) |
S342P |
probably damaging |
Het |
| Garin2 |
T |
C |
12: 78,758,907 (GRCm39) |
S76P |
probably damaging |
Het |
| Gipr |
T |
C |
7: 18,896,884 (GRCm39) |
I129V |
probably benign |
Het |
| Gria4 |
A |
T |
9: 4,464,288 (GRCm39) |
V558D |
probably damaging |
Het |
| Gsdme |
C |
T |
6: 50,206,288 (GRCm39) |
G185E |
probably damaging |
Het |
| Hapstr1 |
T |
A |
16: 8,660,966 (GRCm39) |
C148S |
probably damaging |
Het |
| Hgd |
T |
A |
16: 37,413,797 (GRCm39) |
D86E |
probably benign |
Het |
| Hmcn1 |
T |
A |
1: 150,522,460 (GRCm39) |
H3480L |
probably benign |
Het |
| Hs2st1 |
T |
C |
3: 144,159,783 (GRCm39) |
N127D |
probably damaging |
Het |
| Ilf3 |
A |
G |
9: 21,310,833 (GRCm39) |
N599S |
possibly damaging |
Het |
| Itsn1 |
G |
A |
16: 91,664,971 (GRCm39) |
G1132R |
unknown |
Het |
| Jakmip2 |
A |
G |
18: 43,704,973 (GRCm39) |
S343P |
possibly damaging |
Het |
| Kif1b |
A |
G |
4: 149,266,812 (GRCm39) |
V1670A |
probably benign |
Het |
| Lman2 |
A |
T |
13: 55,500,890 (GRCm39) |
|
probably null |
Het |
| Ltbp1 |
A |
T |
17: 75,692,119 (GRCm39) |
Y1579F |
probably damaging |
Het |
| Mon2 |
G |
A |
10: 122,868,493 (GRCm39) |
A520V |
probably benign |
Het |
| Mrpl10 |
T |
G |
11: 96,938,363 (GRCm39) |
V171G |
possibly damaging |
Het |
| Mrps27 |
A |
T |
13: 99,537,838 (GRCm39) |
T153S |
unknown |
Het |
| Muc5ac |
G |
C |
7: 141,363,040 (GRCm39) |
G2117A |
unknown |
Het |
| Nlrp10 |
A |
G |
7: 108,523,695 (GRCm39) |
V595A |
probably benign |
Het |
| Nol4 |
A |
T |
18: 23,173,080 (GRCm39) |
M7K |
probably benign |
Het |
| Oasl1 |
G |
A |
5: 115,067,980 (GRCm39) |
S188N |
probably damaging |
Het |
| Or2d3c |
C |
A |
7: 106,526,618 (GRCm39) |
G16V |
probably benign |
Het |
| Or5h25 |
T |
C |
16: 58,930,134 (GRCm39) |
I280V |
probably benign |
Het |
| Pcdhga2 |
A |
G |
18: 37,802,993 (GRCm39) |
Y279C |
probably damaging |
Het |
| Pfpl |
C |
T |
19: 12,406,538 (GRCm39) |
A263V |
probably benign |
Het |
| Phf3 |
T |
G |
1: 30,868,938 (GRCm39) |
K703N |
probably damaging |
Het |
| Pik3ca |
C |
G |
3: 32,490,367 (GRCm39) |
P5A |
probably damaging |
Het |
| Plekha6 |
T |
C |
1: 133,221,445 (GRCm39) |
V987A |
probably damaging |
Het |
| Ppp3ca |
T |
A |
3: 136,596,250 (GRCm39) |
I305N |
probably damaging |
Het |
| Prex2 |
A |
G |
1: 11,252,161 (GRCm39) |
K1069E |
possibly damaging |
Het |
| Prss50 |
T |
C |
9: 110,690,403 (GRCm39) |
V182A |
probably damaging |
Het |
| Ptprg |
A |
G |
14: 12,211,703 (GRCm38) |
N995S |
probably benign |
Het |
| Robo2 |
C |
A |
16: 73,693,903 (GRCm39) |
G1375V |
probably benign |
Het |
| Rtl1 |
T |
C |
12: 109,560,864 (GRCm39) |
Y325C |
possibly damaging |
Het |
| Semp2l1 |
T |
C |
1: 32,585,178 (GRCm39) |
D244G |
probably benign |
Het |
| Shcbp1 |
A |
C |
8: 4,798,720 (GRCm39) |
S400A |
probably damaging |
Het |
| Shfl |
C |
T |
9: 20,780,155 (GRCm39) |
|
probably benign |
Het |
| Sirpb1c |
T |
A |
3: 15,886,236 (GRCm39) |
Y380F |
probably benign |
Het |
| Tbl2 |
G |
C |
5: 135,188,329 (GRCm39) |
L374F |
probably damaging |
Het |
| Tpr |
C |
A |
1: 150,305,283 (GRCm39) |
A1524E |
possibly damaging |
Het |
| Vmn2r45 |
T |
A |
7: 8,486,460 (GRCm39) |
E276V |
probably damaging |
Het |
| Vps16 |
C |
T |
2: 130,283,623 (GRCm39) |
Q606* |
probably null |
Het |
| Vstm5 |
A |
T |
9: 15,150,652 (GRCm39) |
Q29L |
probably benign |
Het |
| Wipi1 |
G |
T |
11: 109,473,249 (GRCm39) |
S250Y |
probably damaging |
Het |
|
| Other mutations in F11 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL02008:F11
|
APN |
8 |
45,703,132 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02096:F11
|
APN |
8 |
45,699,791 (GRCm39) |
missense |
probably benign |
0.05 |
|
IGL02363:F11
|
APN |
8 |
45,694,568 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02694:F11
|
APN |
8 |
45,705,196 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL03374:F11
|
APN |
8 |
45,714,111 (GRCm39) |
missense |
possibly damaging |
0.63 |
|
R0225:F11
|
UTSW |
8 |
45,702,114 (GRCm39) |
missense |
probably benign |
0.00 |
|
R0525:F11
|
UTSW |
8 |
45,706,086 (GRCm39) |
missense |
probably benign |
0.01 |
|
R0842:F11
|
UTSW |
8 |
45,705,196 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0961:F11
|
UTSW |
8 |
45,694,531 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1605:F11
|
UTSW |
8 |
45,694,617 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2044:F11
|
UTSW |
8 |
45,705,155 (GRCm39) |
missense |
probably benign |
0.03 |
|
R2113:F11
|
UTSW |
8 |
45,699,869 (GRCm39) |
missense |
probably benign |
0.00 |
|
R2273:F11
|
UTSW |
8 |
45,705,184 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R2274:F11
|
UTSW |
8 |
45,705,184 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R2275:F11
|
UTSW |
8 |
45,705,184 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R2318:F11
|
UTSW |
8 |
45,701,675 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2319:F11
|
UTSW |
8 |
45,701,675 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2403:F11
|
UTSW |
8 |
45,701,675 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2510:F11
|
UTSW |
8 |
45,701,675 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2512:F11
|
UTSW |
8 |
45,714,098 (GRCm39) |
missense |
probably benign |
0.01 |
|
R2893:F11
|
UTSW |
8 |
45,701,675 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2894:F11
|
UTSW |
8 |
45,701,675 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2910:F11
|
UTSW |
8 |
45,694,486 (GRCm39) |
makesense |
probably null |
|
|
R3030:F11
|
UTSW |
8 |
45,701,675 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3105:F11
|
UTSW |
8 |
45,698,754 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R3721:F11
|
UTSW |
8 |
45,701,675 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3726:F11
|
UTSW |
8 |
45,701,675 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3906:F11
|
UTSW |
8 |
45,701,675 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3909:F11
|
UTSW |
8 |
45,701,675 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4465:F11
|
UTSW |
8 |
45,694,511 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4467:F11
|
UTSW |
8 |
45,694,511 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4710:F11
|
UTSW |
8 |
45,703,183 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4824:F11
|
UTSW |
8 |
45,708,379 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R4968:F11
|
UTSW |
8 |
45,698,770 (GRCm39) |
missense |
probably benign |
0.19 |
|
R5225:F11
|
UTSW |
8 |
45,708,341 (GRCm39) |
missense |
probably benign |
0.09 |
|
R5288:F11
|
UTSW |
8 |
45,699,833 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5378:F11
|
UTSW |
8 |
45,705,180 (GRCm39) |
missense |
probably benign |
0.19 |
|
R6155:F11
|
UTSW |
8 |
45,705,119 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6213:F11
|
UTSW |
8 |
45,694,537 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6615:F11
|
UTSW |
8 |
45,701,811 (GRCm39) |
missense |
probably benign |
|
|
R6797:F11
|
UTSW |
8 |
45,706,092 (GRCm39) |
missense |
probably benign |
0.02 |
|
R7147:F11
|
UTSW |
8 |
45,703,183 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7683:F11
|
UTSW |
8 |
45,702,545 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R7688:F11
|
UTSW |
8 |
45,703,127 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8064:F11
|
UTSW |
8 |
45,698,810 (GRCm39) |
missense |
probably benign |
0.01 |
|
R8273:F11
|
UTSW |
8 |
45,701,644 (GRCm39) |
missense |
possibly damaging |
0.70 |
|
R8848:F11
|
UTSW |
8 |
45,695,281 (GRCm39) |
nonsense |
probably null |
|
|
R8901:F11
|
UTSW |
8 |
45,701,851 (GRCm39) |
missense |
probably benign |
0.01 |
|
R9141:F11
|
UTSW |
8 |
45,703,092 (GRCm39) |
critical splice donor site |
probably null |
|
|
R9188:F11
|
UTSW |
8 |
45,698,736 (GRCm39) |
missense |
probably benign |
0.00 |
|
R9658:F11
|
UTSW |
8 |
45,698,671 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9664:F11
|
UTSW |
8 |
45,694,566 (GRCm39) |
nonsense |
probably null |
|
|
U24488:F11
|
UTSW |
8 |
45,695,349 (GRCm39) |
missense |
probably benign |
0.04 |
|
Z1088:F11
|
UTSW |
8 |
45,698,809 (GRCm39) |
missense |
possibly damaging |
0.79 |
|
| Predicted Primers |
PCR Primer
(F):5'- AGACACGCTATGACCTTTTCATGAC -3'
(R):5'- GAGAAGCGAGCAGTTTCCAC -3'
Sequencing Primer
(F):5'- CGCTATGACCTTTTCATGACAAAAC -3'
(R):5'- AGCAGTTTCCACGCGAGAG -3'
|
| Posted On |
2019-11-12 |
Incidental Mutation