Mutagenetix > Incidental Mutation

Incidental Mutation 'R2318:F11'

245560

Institutional Source

Beutler Lab

Gene Symbol

F11

Ensembl Gene

ENSMUSG00000031645

Gene Name

coagulation factor XI

Synonyms

plasma thromboplastin antecedent, 1600027G01Rik, Cf11, FXI

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.099) question?

Stock #

R2318 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

45694211-45715068 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 45701675 bp (GRCm39)

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
Arhgef10	G	A	8: 14,978,855 (GRCm39)	A41T	probably damaging	Het
Car15	T	C	16: 17,654,463 (GRCm39)	M158V	probably benign	Het
Cinp	C	A	12: 110,840,443 (GRCm39)	W113L	probably damaging	Het
Col4a3	T	A	1: 82,626,290 (GRCm39)		probably null	Het
Csnk2b	T	C	17: 35,337,037 (GRCm39)	Y101C	possibly damaging	Het
Ddb1	C	T	19: 10,603,992 (GRCm39)	R900C	probably damaging	Het
Eif4g2	A	G	7: 110,673,065 (GRCm39)	F876L	possibly damaging	Het
H4c4	A	G	13: 23,765,739 (GRCm39)	Y52C	probably damaging	Het
Mast1	T	C	8: 85,647,754 (GRCm39)	D540G	probably damaging	Het
Mis18bp1	C	T	12: 65,187,617 (GRCm39)	V829M	possibly damaging	Het
Mtus2	C	T	5: 148,043,892 (GRCm39)	R827*	probably null	Het
Nlrp9a	G	A	7: 26,273,277 (GRCm39)	V860M	probably damaging	Het
Plod3	G	C	5: 137,017,000 (GRCm39)	A50P	probably benign	Het
Prr14l	T	C	5: 32,987,422 (GRCm39)	E691G	probably benign	Het
Rad1	A	G	15: 10,490,495 (GRCm39)	N154S	probably benign	Het
Sanbr	A	G	11: 23,538,701 (GRCm39)	Y66H	probably damaging	Het
Slc10a4-ps	T	C	5: 72,743,638 (GRCm39)	T27A	probably benign	Het
Smc2	T	C	4: 52,446,030 (GRCm39)	S133P	probably damaging	Het
Sstr1	T	A	12: 58,259,562 (GRCm39)	S62T	possibly damaging	Het
Thsd7a	T	C	6: 12,405,146 (GRCm39)	Y766C	probably damaging	Het
Timm44	A	G	8: 4,318,307 (GRCm39)	V129A	probably benign	Het
Tinag	T	C	9: 76,952,693 (GRCm39)	Y97C	probably damaging	Het
Tns2	C	T	15: 102,017,369 (GRCm39)	R281C	probably damaging	Het
Ubap2	A	G	4: 41,251,542 (GRCm39)	V30A	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
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
R7720:F11	UTSW	8	45,705,127 (GRCm39)	missense	possibly damaging	0.89
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'- CTCTCTATGGTTGTTGTAGACTAGCC -3'
(R):5'- AAGAGCTGGACATCGTCGATG -3'

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

Posted On

2014-10-30