Mutagenetix > Incidental Mutation

Incidental Mutation 'R0225:F11'

33857

Institutional Source

Beutler Lab

Gene Symbol

F11

Ensembl Gene

ENSMUSG00000031645

Gene Name

coagulation factor XI

Synonyms

FXI, plasma thromboplastin antecedent, Cf11, 1600027G01Rik

MMRRC Submission

038470-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.086) question?

Stock #

R0225 (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 45249077 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Alanine at position 267 (T267A)

Ref Sequence

ENSEMBL: ENSMUSP00000034064 (fasta)

Gene Model

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

AlphaFold

Q91Y47

Predicted Effect

probably benign
Transcript: ENSMUST00000034064
AA Change: T267A

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000034064
Gene: ENSMUSG00000031645
AA Change: T267A

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

0.0801

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.0%
20x: 94.7%

Validation Efficiency

100% (67/67)

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: 66 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
0610009O20Rik	G	A	18: 38,261,264	V505I	probably benign	Het
4931417E11Rik	A	G	6: 73,469,419	L49P	possibly damaging	Het
Abca16	T	A	7: 120,540,155	L1470Q	probably damaging	Het
Abraxas2	G	A	7: 132,874,855	R105Q	probably damaging	Het
Arhgap23	G	T	11: 97,444,328	V70L	probably benign	Het
AW549877	T	C	15: 3,986,294	K263E	probably damaging	Het
Bicd1	T	C	6: 149,512,950	I387T	probably benign	Het
Cd59b	G	A	2: 104,078,941		probably null	Het
Chn2	T	C	6: 54,290,451		probably benign	Het
Col18a1	T	C	10: 77,088,914	S14G	possibly damaging	Het
Col5a2	A	G	1: 45,407,035	I461T	probably benign	Het
Dnlz	T	C	2: 26,351,368	N116S	probably damaging	Het
Esyt2	A	G	12: 116,367,710	N736S	probably damaging	Het
Fam234b	T	G	6: 135,217,074	S242A	possibly damaging	Het
Gadd45b	A	G	10: 80,930,347	N11S	probably benign	Het
Garnl3	T	C	2: 33,006,804	T608A	possibly damaging	Het
Gata3	T	C	2: 9,874,809	T119A	probably benign	Het
Gm10647	A	G	9: 66,798,495		probably benign	Het
Gm10936	G	A	10: 117,248,130		noncoding transcript	Het
Gzmd	A	G	14: 56,129,704	W244R	probably damaging	Het
Hdac2	T	A	10: 36,989,184	D131E	probably benign	Het
Hira	T	A	16: 18,956,171	F949I	probably benign	Het
Ighv15-2	T	G	12: 114,565,037		probably benign	Het
Il3	A	G	11: 54,265,680		probably null	Het
Itgae	A	C	11: 73,111,342	M91L	probably benign	Het
Kat2b	A	G	17: 53,641,210	E336G	probably damaging	Het
Kctd21	T	A	7: 97,348,091	I257N	probably benign	Het
Kif23	C	G	9: 61,925,694		probably benign	Het
Lgi3	A	T	14: 70,532,821	I109L	probably benign	Het
Lhx9	A	T	1: 138,838,679	C124S	probably damaging	Het
Lipo4	A	G	19: 33,501,606	V278A	probably benign	Het
Lrch3	T	A	16: 32,961,754		probably benign	Het
Lrp1b	T	C	2: 40,596,983	E142G	probably damaging	Het
Map9	G	A	3: 82,359,983		probably benign	Het
Miox	C	T	15: 89,334,454		probably benign	Het
Mndal	A	T	1: 173,857,513		probably benign	Het
Mug2	G	T	6: 122,074,714	V952L	possibly damaging	Het
Nepn	A	T	10: 52,400,437	T29S	probably damaging	Het
Olfr1055	T	C	2: 86,347,728	I13V	possibly damaging	Het
Olfr307	A	G	7: 86,335,595	I267T	probably benign	Het
Olfr729	T	G	14: 50,148,635	K80Q	probably damaging	Het
Olfr933	A	G	9: 38,976,278	I201V	probably benign	Het
Phf3	A	T	1: 30,805,065	D1604E	probably benign	Het
Plekhn1	T	C	4: 156,228,243	R53G	probably benign	Het
Prickle1	A	G	15: 93,510,777	L47P	possibly damaging	Het
Ptar1	T	A	19: 23,718,095	C309S	probably benign	Het
Rapgef2	A	T	3: 79,104,105	S224R	probably damaging	Het
Siglecg	G	A	7: 43,411,171	G325D	probably damaging	Het
Skor2	A	T	18: 76,859,098	I172F	unknown	Het
Slc9a1	A	G	4: 133,420,605	K645E	probably benign	Het
St14	T	A	9: 31,108,284		probably null	Het
Tas2r120	T	A	6: 132,657,589	Y211*	probably null	Het
Tbxa2r	C	A	10: 81,332,900	T141K	possibly damaging	Het
Tpd52l1	A	G	10: 31,379,256	S32P	probably damaging	Het
Ttn	T	A	2: 76,710,124	R34173W	probably damaging	Het
Ttn	C	A	2: 76,793,130	V15368L	possibly damaging	Het
Tyms	A	G	5: 30,063,258	I148T	probably damaging	Het
Vmn1r45	A	T	6: 89,933,510	Y159*	probably null	Het
Vmn1r58	A	C	7: 5,410,866	S122A	probably benign	Het
Vmn2r13	C	A	5: 109,175,049	V125L	probably benign	Het
Vmn2r92	C	T	17: 18,167,957	A408V	probably damaging	Het
Vps13b	T	C	15: 35,887,261	I3272T	probably benign	Het
Wfdc8	A	G	2: 164,597,185	Y426H	probably benign	Het
Zfp948	A	T	17: 21,587,294	K249N	probably damaging	Het
Zfyve1	A	G	12: 83,555,073		probably benign	Het
Zyg11a	G	A	4: 108,204,641	T321I	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
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
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'- AAGAGCATCCACCTAACTTGTGCC -3'
(R):5'- CGCGACTTGGTGATTCAAGAAGC -3'

Sequencing Primer
(F):5'- TTCTCCCAAGAAATCAGTGTCG -3'
(R):5'- TTGGTGATTCAAGAAGCAATGTTAGG -3'

Posted On

2013-05-09