Mutagenetix > Incidental Mutation

Incidental Mutation 'R8976:F12'

713561

Institutional Source

Beutler Lab

Gene Symbol

F12

Ensembl Gene

ENSMUSG00000021492

Gene Name

coagulation factor XII (Hageman factor)

Synonyms

FXII

MMRRC Submission

068810-MU

Accession Numbers

Essential gene?

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

Stock #

R8976 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

55565771-55574606 bp(-) (GRCm39)

Type of Mutation

intron

DNA Base Change (assembly)

T to A at 55569777 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

1x: 100.0%
3x: 99.9%
10x: 99.5%
20x: 98.4%

Validation Efficiency

98% (60/61)

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: 61 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Arhgef11	A	G	3: 87,635,321 (GRCm39)	I906V	probably benign	Het
Atad2b	T	A	12: 4,967,923 (GRCm39)		probably null	Het
Atr	T	A	9: 95,772,819 (GRCm39)	D1243E	probably benign	Het
Baiap2l1	A	T	5: 144,223,117 (GRCm39)	H73Q	probably benign	Het
Bdp1	C	A	13: 100,197,407 (GRCm39)	G993*	probably null	Het
Cacna2d4	A	T	6: 119,315,118 (GRCm39)	I883F	possibly damaging	Het
Cep250	C	T	2: 155,812,042 (GRCm39)	A446V	unknown	Het
Crem	A	G	18: 3,268,088 (GRCm39)	V80A	possibly damaging	Het
Cyp2j9	T	C	4: 96,479,399 (GRCm39)	K62E	probably benign	Het
Dnah17	T	A	11: 117,917,666 (GRCm39)	I4132F	probably damaging	Het
Dnm3	G	A	1: 162,135,505 (GRCm39)	P423S	probably damaging	Het
Dop1b	G	T	16: 93,558,969 (GRCm39)	V572L	probably benign	Het
F2	A	G	2: 91,466,738 (GRCm39)	S2P	probably benign	Het
Fam171a2	T	C	11: 102,329,451 (GRCm39)	E436G	possibly damaging	Het
Fat1	T	C	8: 45,484,332 (GRCm39)	V3190A	probably benign	Het
Flnb	A	T	14: 7,901,882 (GRCm38)		probably null	Het
Frs3	A	T	17: 48,009,546 (GRCm39)	D9V	probably benign	Het
Galnt17	T	G	5: 130,935,543 (GRCm39)	E380A	probably benign	Het
Glrb	A	C	3: 80,758,363 (GRCm39)	V350G	probably damaging	Het
Helz2	T	A	2: 180,876,486 (GRCm39)	K1336M	possibly damaging	Het
Ifnlr1	T	A	4: 135,428,650 (GRCm39)	V159E	probably damaging	Het
Igf2r	T	C	17: 12,945,659 (GRCm39)	E310G	probably damaging	Het
Il2rb	C	T	15: 78,370,681 (GRCm39)	D145N	probably benign	Het
Iqcb1	A	G	16: 36,692,005 (GRCm39)	I535V	probably benign	Het
Keap1	A	C	9: 21,142,663 (GRCm39)	L531V	probably damaging	Het
Lrrc8d	T	A	5: 105,960,957 (GRCm39)	W456R	probably damaging	Het
Med12l	T	A	3: 59,183,329 (GRCm39)	H1910Q	probably damaging	Het
Mybphl	G	A	3: 108,272,334 (GRCm39)	E8K	probably damaging	Het
Odad3	T	A	9: 21,903,334 (GRCm39)		probably benign	Het
Olig2	A	G	16: 91,023,363 (GRCm39)	S26G	probably benign	Het
Or10a4	T	C	7: 106,697,466 (GRCm39)	S265P	possibly damaging	Het
Or5p73	T	A	7: 108,064,630 (GRCm39)	I33N	possibly damaging	Het
Or6f2	T	C	7: 139,756,885 (GRCm39)	V284A	probably damaging	Het
Or7a38	T	C	10: 78,753,418 (GRCm39)	I248T	possibly damaging	Het
Or7g22	T	A	9: 19,049,141 (GRCm39)	M284K	probably damaging	Het
Pcdhb22	G	A	18: 37,651,396 (GRCm39)		probably benign	Het
Plekha8	A	T	6: 54,607,521 (GRCm39)	E376V	probably damaging	Het
Polr2a	A	G	11: 69,638,037 (GRCm39)	V144A	possibly damaging	Het
Pramel34	T	A	5: 93,785,977 (GRCm39)	N101I	probably damaging	Het
Prr18	T	C	17: 8,560,047 (GRCm39)	S68P	probably damaging	Het
Ptprk	G	A	10: 28,461,669 (GRCm39)	R1153H	probably damaging	Het
Pus1	A	G	5: 110,922,789 (GRCm39)	F293L	possibly damaging	Het
Shank3	A	G	15: 89,442,381 (GRCm39)	E1758G	probably damaging	Het
Ska3	A	T	14: 58,057,851 (GRCm39)	I167N	probably damaging	Het
Ski	A	G	4: 155,242,411 (GRCm39)	S663P	probably damaging	Het
Slc49a3	A	C	5: 108,589,897 (GRCm39)	S502A	probably benign	Het
Spa17	C	T	9: 37,523,254 (GRCm39)	R11Q	possibly damaging	Het
Spag5	T	C	11: 78,195,413 (GRCm39)	V240A	probably benign	Het
Srl	A	T	16: 4,300,894 (GRCm39)	Y726N	probably damaging	Het
Ssbp4	A	T	8: 71,052,336 (GRCm39)		probably null	Het
Surf1	A	T	2: 26,805,767 (GRCm39)	C48S	probably benign	Het
Tigd3	G	A	19: 5,941,853 (GRCm39)	P426S	probably benign	Het
Tmem176b	A	G	6: 48,812,600 (GRCm39)	S122P	probably damaging	Het
Trim23	G	T	13: 104,328,545 (GRCm39)	L355F	probably damaging	Het
Ttn	G	A	2: 76,545,110 (GRCm39)	T32664M	probably damaging	Het
Ulk3	T	A	9: 57,502,220 (GRCm39)		probably benign	Het
Unc80	A	G	1: 66,511,169 (GRCm39)	H59R	possibly damaging	Het
Vmn1r19	A	G	6: 57,381,719 (GRCm39)	I91V	probably benign	Het
Vmn2r10	T	A	5: 109,145,479 (GRCm39)	N543Y	probably damaging	Het
Zbtb14	G	A	17: 69,694,752 (GRCm39)	R150H	possibly damaging	Het
Zfp831	T	C	2: 174,487,079 (GRCm39)	Y585H	possibly 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
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
R9779:F12	UTSW	13	55,566,012 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- TTGCAGTGAGCCTCAGAACC -3'
(R):5'- TGGTTTGATGACAAGCAGGTGC -3'

Sequencing Primer
(F):5'- AGTGAGCCTCAGAACCTTTGC -3'
(R):5'- AGGCAGGGTATTGGTCCC -3'

Posted On

2022-06-15