Mutagenetix > Incidental Mutation

Incidental Mutation 'R5637:F12'

440460

Institutional Source

Beutler Lab

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 #

R5637 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

55565771-55574606 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 55570228 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Lysine to Glutamic Acid at position 93 (K93E)

Ref Sequence

ENSEMBL: ENSMUSP00000021948 (fasta)

Gene Model

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

AlphaFold

Q80YC5

Predicted Effect

possibly damaging
Transcript: ENSMUST00000021948
AA Change: K93E

PolyPhen 2 Score 0.570 (Sensitivity: 0.88; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000021948
Gene: ENSMUSG00000021492
AA Change: K93E

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

1x: 99.2%
3x: 98.5%
10x: 96.9%
20x: 94.2%

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: 63 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acmsd	T	C	1: 127,694,050 (GRCm39)	F327L	probably damaging	Het
Adgrl3	C	A	5: 81,841,391 (GRCm39)	S824Y	probably damaging	Het
Arfip2	A	G	7: 105,286,370 (GRCm39)	M144T	probably damaging	Het
Arhgap32	A	G	9: 32,158,502 (GRCm39)	N179S	probably damaging	Het
Ash2l	T	C	8: 26,317,339 (GRCm39)	Y249C	probably damaging	Het
Ccndbp1	A	G	2: 120,842,165 (GRCm39)	T141A	probably benign	Het
Cd177	T	A	7: 24,455,748 (GRCm39)	H258L	probably benign	Het
Celsr3	T	C	9: 108,714,332 (GRCm39)	W1956R	probably damaging	Het
Cep295	T	C	9: 15,245,108 (GRCm39)		probably null	Het
Cngb1	T	C	8: 95,984,549 (GRCm39)	H420R	probably damaging	Het
Cobl	C	T	11: 12,246,531 (GRCm39)		probably benign	Het
Cobll1	T	C	2: 64,956,247 (GRCm39)	D337G	possibly damaging	Het
Dmrta1	A	G	4: 89,577,068 (GRCm39)	N175D	probably benign	Het
Dnah7b	G	T	1: 46,395,674 (GRCm39)	V3859L	possibly damaging	Het
Dnah7c	A	G	1: 46,799,521 (GRCm39)		probably null	Het
Dusp4	C	A	8: 35,284,451 (GRCm39)	H255Q	probably damaging	Het
Evx1	T	C	6: 52,292,751 (GRCm39)	V134A	possibly damaging	Het
Fam186a	A	C	15: 99,839,628 (GRCm39)	H2205Q	possibly damaging	Het
Fcgbpl1	A	G	7: 27,852,277 (GRCm39)	N1267D	probably benign	Het
Frem2	A	G	3: 53,560,358 (GRCm39)	I1383T	probably damaging	Het
Gm11595	G	A	11: 99,663,381 (GRCm39)	R100C	unknown	Het
Gpr158	A	G	2: 21,788,083 (GRCm39)	I575V	probably benign	Het
Hdc	A	G	2: 126,458,109 (GRCm39)	V71A	probably benign	Het
Helb	G	A	10: 119,941,353 (GRCm39)	T445M	probably benign	Het
Inppl1	A	T	7: 101,478,055 (GRCm39)	S652R	probably benign	Het
Itpripl1	T	C	2: 126,984,044 (GRCm39)	D26G	probably damaging	Het
Klc1	T	A	12: 111,740,842 (GRCm39)	L106H	probably damaging	Het
Klhl25	T	A	7: 75,515,540 (GRCm39)		probably null	Het
Krt6a	T	C	15: 101,600,714 (GRCm39)	D318G	probably benign	Het
Lrp2	T	C	2: 69,302,762 (GRCm39)	N2989S	probably damaging	Het
Lta4h	A	G	10: 93,304,731 (GRCm39)		probably null	Het
Man1c1	A	G	4: 134,318,735 (GRCm39)	S251P	probably damaging	Het
Mapre2	T	C	18: 23,886,919 (GRCm39)		probably benign	Het
Mfap3l	A	T	8: 61,109,821 (GRCm39)	I66F	probably damaging	Het
Mvk	A	G	5: 114,594,003 (GRCm39)	E286G	possibly damaging	Het
Nos1ap	T	A	1: 170,176,968 (GRCm39)	K145M	probably damaging	Het
Or14a260	G	A	7: 85,984,812 (GRCm39)	T264I	probably benign	Het
Or4f52	T	A	2: 111,061,456 (GRCm39)	K227N	probably benign	Het
Or7d11	A	T	9: 19,966,279 (GRCm39)	V160D	possibly damaging	Het
Pcdh9	A	G	14: 94,123,198 (GRCm39)	F991L	possibly damaging	Het
Pcdha9	T	C	18: 37,131,426 (GRCm39)	V165A	probably benign	Het
Pcsk6	A	G	7: 65,618,745 (GRCm39)	H437R	probably damaging	Het
Pfas	C	T	11: 68,884,149 (GRCm39)	V589M	probably damaging	Het
Prpf40a	A	G	2: 53,046,746 (GRCm39)	V288A	possibly damaging	Het
Rnf183	T	C	4: 62,346,387 (GRCm39)	D137G	probably benign	Het
Rsph6a	A	G	7: 18,788,820 (GRCm39)	S51G	probably benign	Het
Scap	G	A	9: 110,210,640 (GRCm39)	A991T	possibly damaging	Het
Sdk2	C	A	11: 113,724,005 (GRCm39)	V1222F	probably damaging	Het
Sdr16c6	T	A	4: 4,063,232 (GRCm39)	N181I	possibly damaging	Het
Semp2l2a	A	T	8: 13,887,713 (GRCm39)	M126K	possibly damaging	Het
Serpinb7	A	T	1: 107,356,037 (GRCm39)	D20V	probably damaging	Het
Sh3bp2	C	A	5: 34,718,392 (GRCm39)	R531S	possibly damaging	Het
Skint8	C	A	4: 111,807,390 (GRCm39)	L359M	probably damaging	Het
Sox2	A	G	3: 34,704,677 (GRCm39)	N38S	probably benign	Het
Spg7	C	A	8: 123,821,314 (GRCm39)	Q680K	possibly damaging	Het
Styk1	T	C	6: 131,277,381 (GRCm39)	E331G	possibly damaging	Het
Tkfc	G	A	19: 10,571,897 (GRCm39)	R380W	probably benign	Het
Trib3	A	G	2: 152,180,410 (GRCm39)	F261S	probably damaging	Het
Ubr1	T	A	2: 120,793,998 (GRCm39)	Q62L	possibly damaging	Het
Vmn2r54	T	C	7: 12,349,296 (GRCm39)	Y762C	probably benign	Het
Vmn2r97	T	A	17: 19,167,628 (GRCm39)	Y627*	probably null	Het
Zfp12	A	G	5: 143,231,451 (GRCm39)	K625E	probably damaging	Het
Zw10	T	C	9: 48,968,950 (GRCm39)	V38A	probably damaging	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
IGL03030:F12	APN	13	55,569,332 (GRCm39)	intron	probably benign
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
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

Predicted Primers

PCR Primer
(F):5'- GCTCATCTGGACAATGGTGG -3'
(R):5'- AAGCATCGTGTTTGGTCAAAAG -3'

Sequencing Primer
(F):5'- GACAATGGTGGCCTCTTTCC -3'
(R):5'- CATCGTGTTTGGTCAAAAGGTGTG -3'

Posted On

2016-11-08