Mutagenetix > Incidental Mutations

Incidental Mutation 'R5225:F11'

402559

Institutional Source

Beutler Lab

Gene Symbol

F11

Ensembl Gene

ENSMUSG00000031645

Gene Name

coagulation factor XI

Synonyms

FXI, plasma thromboplastin antecedent, Cf11, 1600027G01Rik

MMRRC Submission

042798-MU

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.115) question?

Stock #

R5225 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

45241174-45262031 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 45255304 bp

Zygosity

Heterozygous

Amino Acid Change

Threonine to Alanine at position 40 (T40A)

Ref Sequence

ENSEMBL: ENSMUSP00000034064 (fasta)

Gene Model

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

Predicted Effect

probably benign
Transcript: ENSMUST00000034064
AA Change: T40A

PolyPhen 2 Score 0.090 (Sensitivity: 0.93; Specificity: 0.85)

SMART Domains

Protein: ENSMUSP00000034064
Gene: ENSMUSG00000031645
AA Change: T40A

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

0.1045

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.1%
20x: 95.0%

Validation Efficiency

100% (70/70)

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: 63 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700010I14Rik	C	T	17: 9,008,007	R465*	probably null	Het
Abcg3	A	T	5: 104,966,783	D289E	probably damaging	Het
Ablim2	G	T	5: 35,866,771		probably null	Het
Acp1	A	T	12: 30,905,079	V36D	probably benign	Het
Adgrb1	T	A	15: 74,577,499		probably benign	Het
Akap6	G	A	12: 52,886,546	V274I	probably damaging	Het
Arhgap39	T	C	15: 76,725,515		probably benign	Het
Bmp1	G	A	14: 70,480,165	R789W	probably damaging	Het
Cfhr2	T	A	1: 139,821,782	Y154F	possibly damaging	Het
Cilp2	T	C	8: 69,883,365	Y358C	probably damaging	Het
Cyp1a2	T	A	9: 57,677,233	K513*	probably null	Het
Dennd4a	G	T	9: 64,888,928	K745N	possibly damaging	Het
Dlg1	T	A	16: 31,836,267	S542T	probably benign	Het
Dmbt1	A	T	7: 131,094,735	I893F	possibly damaging	Het
Dnhd1	A	T	7: 105,703,923	E2761V	possibly damaging	Het
Fam227a	T	C	15: 79,636,735	D296G	possibly damaging	Het
Fance	C	T	17: 28,315,615		probably benign	Het
Gaa	A	G	11: 119,276,843	D149G	probably damaging	Het
Gapt	A	G	13: 110,353,988	M47T	possibly damaging	Het
Gm1110	T	C	9: 26,902,478	N202D	probably damaging	Het
Gm16432	A	T	1: 178,148,908		probably benign	Het
Gm7535	T	C	17: 17,911,547		probably benign	Het
Gm973	T	A	1: 59,562,700	M491K	probably benign	Het
Gmnc	A	G	16: 26,963,945	V27A	probably benign	Het
Kif27	T	C	13: 58,293,101	T1167A	possibly damaging	Het
Klrg1	T	A	6: 122,271,372	*189C	probably null	Het
Lime1	T	A	2: 181,382,847	M98K	probably benign	Het
Lrp1	C	A	10: 127,556,096	A2867S	probably benign	Het
Lrrd1	G	A	5: 3,858,735	S669N	probably benign	Het
Mmel1	A	G	4: 154,891,999	N520S	probably damaging	Het
Mrpl48	A	C	7: 100,549,328	L206V	probably damaging	Het
Nagpa	C	T	16: 5,203,732	A52T	probably benign	Het
Olfr1264	T	G	2: 90,021,184	D294A	probably benign	Het
Olfr98	A	G	17: 37,263,028	V212A	probably benign	Het
Orai2	A	G	5: 136,161,501	S71P	probably damaging	Het
Pcbp1	A	T	6: 86,525,227	I230N	probably damaging	Het
Pcdh15	T	C	10: 74,303,154	L349P	probably damaging	Het
Pcdhb16	T	C	18: 37,479,958	V657A	probably benign	Het
Prdm15	G	T	16: 97,808,675	H590N	probably damaging	Het
Psg18	T	C	7: 18,345,949	I442M	probably damaging	Het
Pygm	C	A	19: 6,389,464	D279E	probably benign	Het
Rrn3	T	A	16: 13,792,934		probably null	Het
Sass6	T	C	3: 116,614,053	S273P	possibly damaging	Het
Schip1	A	G	3: 68,494,937	M116V	probably benign	Het
Sdc3	G	A	4: 130,818,776	V55I	unknown	Het
Serpinb8	T	A	1: 107,597,471	M1K	probably null	Het
Slc24a5	T	C	2: 125,085,819	I346T	probably damaging	Het
Slc35f3	T	A	8: 126,391,107	I335N	probably damaging	Het
Snapc2	T	A	8: 4,255,299	V147E	probably damaging	Het
Snx2	T	C	18: 53,189,712	S56P	possibly damaging	Het
Sptbn5	A	G	2: 120,085,331		probably benign	Het
Stk19	A	T	17: 34,821,424		probably benign	Het
Sulf1	A	G	1: 12,841,478	E692G	probably benign	Het
Tet1	C	T	10: 62,838,671	V1209I	probably damaging	Het
Tln1	T	C	4: 43,539,406	T1639A	probably benign	Het
Tmem135	G	T	7: 89,196,127	Y165*	probably null	Het
Tmprss6	T	C	15: 78,452,507	T398A	probably damaging	Het
Ube4a	C	T	9: 44,939,960		probably null	Het
Vmn1r227	T	C	17: 20,735,237		noncoding transcript	Het
Wdhd1	T	C	14: 47,250,816	S745G	probably benign	Het
Xylt1	A	G	7: 117,592,036	H353R	probably damaging	Het
Zfp788	A	G	7: 41,649,556	T539A	probably benign	Het
Zfp866	A	T	8: 69,765,441	F510I	possibly 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
R2318:F11	UTSW	8	45248638	missense	probably damaging	1.00
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
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
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'- CCGTGGAAGGAAACTCACTTTC -3'
(R):5'- CCGAGGTCAGGCATATTTAGC -3'

Sequencing Primer
(F):5'- CCACTAACATCCCCTTTTGTAAAATG -3'
(R):5'- GGTCAGGCATATTTAGCACTGAC -3'

Posted On

2016-07-22