Mutagenetix > Incidental Mutation

Incidental Mutation 'R2318:F11'

245560

Institutional Source

Beutler Lab

Gene Symbol

F11

Ensembl Gene

ENSMUSG00000031645

Gene Name

coagulation factor XI

Synonyms

FXI, plasma thromboplastin antecedent, Cf11, 1600027G01Rik

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.082) question?

Stock #

R2318 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

45241174-45262031 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 45248638 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Serine to Proline at position 353 (S353P)

Ref Sequence

ENSEMBL: ENSMUSP00000034064 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000034064]

AlphaFold

Q91Y47

Predicted Effect

probably damaging
Transcript: ENSMUST00000034064
AA Change: S353P

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000034064
Gene: ENSMUSG00000031645
AA Change: S353P

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000210622

Meta Mutation Damage Score

0.5090

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.3%
20x: 95.0%

Validation Efficiency

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: 24 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
0610010F05Rik	A	G	11: 23,588,701	Y66H	probably damaging	Het
Arhgef10	G	A	8: 14,928,855	A41T	probably damaging	Het
Car15	T	C	16: 17,836,599	M158V	probably benign	Het
Cinp	C	A	12: 110,874,009	W113L	probably damaging	Het
Col4a3	T	A	1: 82,648,569		probably null	Het
Csnk2b	T	C	17: 35,118,061	Y101C	possibly damaging	Het
Ddb1	C	T	19: 10,626,628	R900C	probably damaging	Het
Eif4g2	A	G	7: 111,073,858	F876L	possibly damaging	Het
Gm5868	T	C	5: 72,586,295	T27A	probably benign	Het
Hist1h4d	A	G	13: 23,581,756	Y52C	probably damaging	Het
Mast1	T	C	8: 84,921,125	D540G	probably damaging	Het
Mis18bp1	C	T	12: 65,140,843	V829M	possibly damaging	Het
Mtus2	C	T	5: 148,107,082	R827*	probably null	Het
Nlrp9a	G	A	7: 26,573,852	V860M	probably damaging	Het
Plod3	G	C	5: 136,988,146	A50P	probably benign	Het
Prr14l	T	C	5: 32,830,078	E691G	probably benign	Het
Rad1	A	G	15: 10,490,409	N154S	probably benign	Het
Smc2	T	C	4: 52,446,030	S133P	probably damaging	Het
Sstr1	T	A	12: 58,212,776	S62T	possibly damaging	Het
Thsd7a	T	C	6: 12,405,147	Y766C	probably damaging	Het
Timm44	A	G	8: 4,268,307	V129A	probably benign	Het
Tinag	T	C	9: 77,045,411	Y97C	probably damaging	Het
Tns2	C	T	15: 102,108,934	R281C	probably damaging	Het
Ubap2	A	G	4: 41,251,542	V30A	probably damaging	Het

Other mutations in F11

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02008:F11	APN	8	45250095	missense	probably damaging	1.00
IGL02096:F11	APN	8	45246754	missense	probably benign	0.05
IGL02363:F11	APN	8	45241531	missense	probably damaging	1.00
IGL02694:F11	APN	8	45252159	missense	probably damaging	1.00
IGL03374:F11	APN	8	45261074	missense	possibly damaging	0.63
R0225:F11	UTSW	8	45249077	missense	probably benign	0.00
R0525:F11	UTSW	8	45253049	missense	probably benign	0.01
R0842:F11	UTSW	8	45252159	missense	probably damaging	1.00
R0961:F11	UTSW	8	45241494	missense	probably damaging	1.00
R1605:F11	UTSW	8	45241580	missense	probably damaging	1.00
R2044:F11	UTSW	8	45252118	missense	probably benign	0.03
R2113:F11	UTSW	8	45246832	missense	probably benign	0.00
R2273:F11	UTSW	8	45252147	missense	possibly damaging	0.94
R2274:F11	UTSW	8	45252147	missense	possibly damaging	0.94
R2275:F11	UTSW	8	45252147	missense	possibly damaging	0.94
R2319:F11	UTSW	8	45248638	missense	probably damaging	1.00
R2403:F11	UTSW	8	45248638	missense	probably damaging	1.00
R2510:F11	UTSW	8	45248638	missense	probably damaging	1.00
R2512:F11	UTSW	8	45261061	missense	probably benign	0.01
R2893:F11	UTSW	8	45248638	missense	probably damaging	1.00
R2894:F11	UTSW	8	45248638	missense	probably damaging	1.00
R2910:F11	UTSW	8	45241449	makesense	probably null
R3030:F11	UTSW	8	45248638	missense	probably damaging	1.00
R3105:F11	UTSW	8	45245717	missense	probably damaging	0.97
R3721:F11	UTSW	8	45248638	missense	probably damaging	1.00
R3726:F11	UTSW	8	45248638	missense	probably damaging	1.00
R3906:F11	UTSW	8	45248638	missense	probably damaging	1.00
R3909:F11	UTSW	8	45248638	missense	probably damaging	1.00
R4465:F11	UTSW	8	45241474	missense	probably damaging	1.00
R4467:F11	UTSW	8	45241474	missense	probably damaging	1.00
R4710:F11	UTSW	8	45250146	missense	probably damaging	1.00
R4824:F11	UTSW	8	45255342	missense	probably damaging	0.99
R4968:F11	UTSW	8	45245733	missense	probably benign	0.19
R5225:F11	UTSW	8	45255304	missense	probably benign	0.09
R5288:F11	UTSW	8	45246796	missense	probably damaging	1.00
R5378:F11	UTSW	8	45252143	missense	probably benign	0.19
R6155:F11	UTSW	8	45252082	missense	probably damaging	1.00
R6213:F11	UTSW	8	45241500	missense	probably damaging	1.00
R6615:F11	UTSW	8	45248774	missense	probably benign
R6797:F11	UTSW	8	45253055	missense	probably benign	0.02
R7147:F11	UTSW	8	45250146	missense	probably damaging	1.00
R7683:F11	UTSW	8	45249508	missense	probably damaging	0.97
R7688:F11	UTSW	8	45250090	missense	probably damaging	1.00
R7720:F11	UTSW	8	45252090	missense	possibly damaging	0.89
R8064:F11	UTSW	8	45245773	missense	probably benign	0.01
R8273:F11	UTSW	8	45248607	missense	possibly damaging	0.70
R8848:F11	UTSW	8	45242244	nonsense	probably null
R8901:F11	UTSW	8	45248814	missense	probably benign	0.01
R9141:F11	UTSW	8	45250055	critical splice donor site	probably null
R9188:F11	UTSW	8	45245699	missense	probably benign	0.00
R9658:F11	UTSW	8	45245634	missense	probably damaging	1.00
R9664:F11	UTSW	8	45241529	nonsense	probably null
U24488:F11	UTSW	8	45242312	missense	probably benign	0.04
Z1088:F11	UTSW	8	45245772	missense	possibly damaging	0.79

Predicted Primers

PCR Primer
(F):5'- CTCTCTATGGTTGTTGTAGACTAGCC -3'
(R):5'- AAGAGCTGGACATCGTCGATG -3'

Sequencing Primer
(F):5'- ACTAGCCTCGTGTAGTAGACTAGC -3'
(R):5'- CATCGTCGATGTGAAAGGCC -3'

Posted On

2014-10-30