Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL03030:F12'

408418

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

F12

Ensembl Gene

ENSMUSG00000021492

Gene Name

coagulation factor XII (Hageman factor)

Synonyms

FXII

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.085) question?

Stock #

IGL03030

Quality Score

Status

Chromosome

Chromosomal Location

55565771-55574606 bp(-) (GRCm39)

Type of Mutation

intron

DNA Base Change (assembly)

A to G at 55569332 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000125771 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000021948] [ENSMUST00000170921]

AlphaFold

Q80YC5

Predicted Effect

probably benign
Transcript: ENSMUST00000021948

SMART Domains

Protein: ENSMUSP00000021948
Gene: ENSMUSG00000021492

Domain	Start	End	E-Value	Type
signal peptide	1	19	N/A	INTRINSIC
FN2	40	88	4.3e-24	SMART
EGF	97	131	4.22e-4	SMART
FN1	135	175	2.4e-13	SMART
EGF	177	210	3.94e-4	SMART
KR	215	297	6.88e-27	SMART
low complexity region	302	320	N/A	INTRINSIC
Tryp_SPc	354	591	7.74e-90	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000170921

SMART Domains

Protein: ENSMUSP00000125771
Gene: ENSMUSG00000021492

Domain	Start	End	E-Value	Type
Tryp_SPc	2	137	3.4e-7	SMART

Coding Region Coverage

Validation Efficiency

MGI Phenotype

FUNCTION: This gene encodes a glycoprotein coagulation factor that plays an important role in the intrinsic pathway of blood coagulation and hemostasis. The encoded protein is an inactive zymogen that is autoactivated upon contact with negatively charged surfaces or misfolded protein aggregates. Mice lacking the encoded protein have a severe defect in forming stable fibrin clots. [provided by RefSeq, Apr 2015]
PHENOTYPE: Mice homozygous for a knock-out allele are protected from ischemic brain injury in an experimental stroke model, without exhibiting an increase in infarct-associated hemorrhage. Another null mouse shows decreased plasma bradykinin levels and prolonged activated partial thromboplastin times. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 68 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4931406B18Rik	A	G	7: 43,145,057 (GRCm39)	V367A	possibly damaging	Het
Abcb5	A	T	12: 118,904,104 (GRCm39)	S200R	possibly damaging	Het
Adam29	T	C	8: 56,326,100 (GRCm39)	D118G	probably damaging	Het
Adh4	A	G	3: 138,134,906 (GRCm39)	D360G	probably benign	Het
Ankle2	A	G	5: 110,399,476 (GRCm39)	Q611R	possibly damaging	Het
Ankra2	C	T	13: 98,409,881 (GRCm39)		probably benign	Het
Ap1g2	T	A	14: 55,343,504 (GRCm39)	I28F	probably damaging	Het
Baz2a	C	T	10: 127,961,015 (GRCm39)	T1608I	possibly damaging	Het
Cacnb4	T	C	2: 52,364,894 (GRCm39)	D123G	probably damaging	Het
Cage1	G	A	13: 38,212,123 (GRCm39)	T51M	probably benign	Het
Ccdc63	A	G	5: 122,260,876 (GRCm39)	V216A	probably benign	Het
Ccnd2	A	G	6: 127,125,841 (GRCm39)	V65A	probably damaging	Het
Cfap20dc	A	G	14: 8,511,113 (GRCm38)	S434P	probably damaging	Het
Chd3	T	A	11: 69,245,230 (GRCm39)	T1163S	possibly damaging	Het
Cmbl	A	G	15: 31,589,823 (GRCm39)		probably benign	Het
Cobl	G	T	11: 12,204,241 (GRCm39)	N813K	possibly damaging	Het
Cog5	G	A	12: 31,840,921 (GRCm39)	V249M	probably damaging	Het
Cps1	A	G	1: 67,182,080 (GRCm39)	N98S	probably damaging	Het
Cracd	A	G	5: 77,005,463 (GRCm39)	D608G	unknown	Het
D630045J12Rik	A	T	6: 38,126,648 (GRCm39)	I1454N	probably damaging	Het
Elmo2	A	G	2: 165,136,237 (GRCm39)	V603A	possibly damaging	Het
Ficd	G	A	5: 113,874,990 (GRCm39)	V20I	probably benign	Het
Gatad2b	G	T	3: 90,249,244 (GRCm39)	G94V	probably benign	Het
Gm4845	G	A	1: 141,184,403 (GRCm39)		noncoding transcript	Het
Hrnr	G	A	3: 93,227,908 (GRCm39)	V9I	possibly damaging	Het
Kifc3	A	G	8: 95,829,040 (GRCm39)	S584P	probably damaging	Het
Klk1b24	C	A	7: 43,840,790 (GRCm39)	Q73K	probably benign	Het
Lrp10	C	A	14: 54,706,619 (GRCm39)	N518K	possibly damaging	Het
Lsr	A	G	7: 30,658,706 (GRCm39)	V247A	possibly damaging	Het
Mfsd6	A	T	1: 52,748,862 (GRCm39)	M1K	probably null	Het
Mprip	T	A	11: 59,631,941 (GRCm39)		probably null	Het
Myo3b	G	T	2: 70,257,160 (GRCm39)		probably benign	Het
Oprd1	A	G	4: 131,844,696 (GRCm39)	F104S	possibly damaging	Het
Or1l4	T	C	2: 37,091,883 (GRCm39)	V210A	probably benign	Het
Or2g1	T	A	17: 38,107,162 (GRCm39)	Y276N	probably damaging	Het
Or4b1d	A	T	2: 89,969,006 (GRCm39)	I159N	possibly damaging	Het
Or5ar1	T	C	2: 85,671,416 (GRCm39)	T240A	probably damaging	Het
Or5b109	C	T	19: 13,212,418 (GRCm39)	S268L	probably damaging	Het
Palb2	A	G	7: 121,712,479 (GRCm39)	V591A	probably damaging	Het
Pcdhb18	A	T	18: 37,623,786 (GRCm39)	D372V	probably damaging	Het
Phc3	A	G	3: 30,991,002 (GRCm39)	V405A	probably damaging	Het
Phf20l1	A	T	15: 66,513,796 (GRCm39)		probably benign	Het
Pik3ip1	A	G	11: 3,283,259 (GRCm39)	K57E	possibly damaging	Het
Pkhd1l1	G	A	15: 44,455,372 (GRCm39)	M4044I	probably benign	Het
Pkhd1l1	T	C	15: 44,460,298 (GRCm39)	V4169A	probably benign	Het
Pklr	A	T	3: 89,049,963 (GRCm39)	I313F	probably damaging	Het
Plxna4	T	A	6: 32,179,160 (GRCm39)	T952S	probably benign	Het
Pop4	A	T	7: 37,962,730 (GRCm39)	I178N	probably damaging	Het
Prorp	A	G	12: 55,351,429 (GRCm39)	D246G	probably damaging	Het
Prss40	A	C	1: 34,597,182 (GRCm39)	V122G	probably damaging	Het
Rapgef2	C	A	3: 78,981,614 (GRCm39)		probably null	Het
Rbm19	A	G	5: 120,269,311 (GRCm39)	D538G	probably damaging	Het
Rnf44	G	A	13: 54,829,803 (GRCm39)	R312*	probably null	Het
Rock1	T	C	18: 10,070,215 (GRCm39)		probably benign	Het
Rrp1b	A	G	17: 32,275,875 (GRCm39)	E474G	probably damaging	Het
Ryr2	T	A	13: 11,699,365 (GRCm39)	I2959F	probably damaging	Het
Sidt2	A	G	9: 45,850,803 (GRCm39)	S801P	probably damaging	Het
Skint6	T	C	4: 112,870,153 (GRCm39)	I602V	probably benign	Het
Slc6a19	C	A	13: 73,848,590 (GRCm39)	V55L	probably damaging	Het
Smarca4	C	T	9: 21,547,132 (GRCm39)	T219I	probably benign	Het
Trappc11	C	A	8: 47,966,964 (GRCm39)	V440F	probably damaging	Het
Vmn1r236	G	A	17: 21,507,108 (GRCm39)	W75*	probably null	Het
Vmn2r52	A	G	7: 9,892,799 (GRCm39)	F780S	probably benign	Het
Vmn2r82	G	T	10: 79,217,149 (GRCm39)	A494S	possibly damaging	Het
Vwa3b	A	T	1: 37,084,049 (GRCm39)	K74M	probably damaging	Het
Wrn	T	A	8: 33,738,989 (GRCm39)	I1037F	possibly damaging	Het
Zfp13	T	C	17: 23,799,819 (GRCm39)	T82A	probably benign	Het
Zfp82	T	C	7: 29,756,890 (GRCm39)	E64G	probably benign	Het

Other mutations in F12

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02535:F12	APN	13	55,574,157 (GRCm39)	missense	possibly damaging	0.83
IGL02756:F12	APN	13	55,568,880 (GRCm39)	missense	possibly damaging	0.58
R0049:F12	UTSW	13	55,574,130 (GRCm39)	missense	probably benign	0.00
R0049:F12	UTSW	13	55,574,130 (GRCm39)	missense	probably benign	0.00
R0646:F12	UTSW	13	55,570,296 (GRCm39)	intron	probably benign
R1670:F12	UTSW	13	55,569,346 (GRCm39)	missense	probably damaging	1.00
R1896:F12	UTSW	13	55,568,540 (GRCm39)	missense	probably damaging	1.00
R3508:F12	UTSW	13	55,568,872 (GRCm39)	missense	probably benign
R3548:F12	UTSW	13	55,565,950 (GRCm39)	missense	probably benign	0.03
R3856:F12	UTSW	13	55,569,035 (GRCm39)	splice site	probably null
R4583:F12	UTSW	13	55,568,943 (GRCm39)	missense	probably benign	0.04
R5177:F12	UTSW	13	55,567,981 (GRCm39)	missense	probably benign	0.08
R5369:F12	UTSW	13	55,566,304 (GRCm39)	missense	probably benign	0.13
R5529:F12	UTSW	13	55,569,872 (GRCm39)	missense	probably benign	0.04
R5637:F12	UTSW	13	55,570,228 (GRCm39)	missense	possibly damaging	0.57
R6812:F12	UTSW	13	55,569,658 (GRCm39)	missense	probably damaging	0.97
R7156:F12	UTSW	13	55,566,310 (GRCm39)	missense	probably damaging	1.00
R8007:F12	UTSW	13	55,566,265 (GRCm39)	missense	probably damaging	1.00
R8348:F12	UTSW	13	55,566,301 (GRCm39)	missense	probably benign	0.19
R8374:F12	UTSW	13	55,569,144 (GRCm39)	missense	probably damaging	1.00
R8448:F12	UTSW	13	55,566,301 (GRCm39)	missense	probably benign	0.19
R8844:F12	UTSW	13	55,568,198 (GRCm39)	missense	probably damaging	1.00
R8976:F12	UTSW	13	55,569,777 (GRCm39)	intron	probably benign
R9779:F12	UTSW	13	55,566,012 (GRCm39)	missense	probably damaging	1.00

Posted On

2016-08-02