Mutagenetix > Incidental Mutation

Incidental Mutation 'R8448:F12'

654623

Institutional Source

Beutler Lab

Gene Symbol

F12

Ensembl Gene

ENSMUSG00000021492

Gene Name

coagulation factor XII (Hageman factor)

Synonyms

FXII

MMRRC Submission

067828-MU

Accession Numbers

Essential gene?

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

Stock #

R8448 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

55565771-55574606 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 55566301 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Phenylalanine at position 497 (Y497F)

Ref Sequence

ENSEMBL: ENSMUSP00000021948 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000021948] [ENSMUST00000054146] [ENSMUST00000057167] [ENSMUST00000170921] [ENSMUST00000225259]

AlphaFold

Q80YC5

Predicted Effect

probably benign
Transcript: ENSMUST00000021948
AA Change: Y497F

PolyPhen 2 Score 0.187 (Sensitivity: 0.92; Specificity: 0.87)

SMART Domains

Protein: ENSMUSP00000021948
Gene: ENSMUSG00000021492
AA Change: Y497F

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: ENSMUST00000054146

SMART Domains

Protein: ENSMUSP00000054053
Gene: ENSMUSG00000044444

Domain	Start	End	E-Value	Type
Pfam:Profilin	3	132	7.5e-15	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000057167

SMART Domains

Protein: ENSMUSP00000059138
Gene: ENSMUSG00000021490

Domain	Start	End	E-Value	Type
Pfam:Na_Pi_cotrans	113	256	7.4e-28	PFAM
Pfam:Na_Pi_cotrans	359	549	2.3e-17	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000170921
AA Change: Y43F

PolyPhen 2 Score 0.076 (Sensitivity: 0.93; Specificity: 0.85)

SMART Domains

Protein: ENSMUSP00000125771
Gene: ENSMUSG00000021492
AA Change: Y43F

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

Predicted Effect

probably benign
Transcript: ENSMUST00000225259

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 98.9%

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
4933430I17Rik	T	C	4: 62,461,022 (GRCm39)		probably null	Het
Adamts6	T	A	13: 104,616,027 (GRCm39)	C1030S	probably damaging	Het
Adamtsl3	C	A	7: 82,253,007 (GRCm39)	T1527K	possibly damaging	Het
Akap9	G	A	5: 3,998,897 (GRCm39)		probably null	Het
Ankle2	C	A	5: 110,389,909 (GRCm39)	P457T	possibly damaging	Het
Ankrd7	A	G	6: 18,868,007 (GRCm39)	N91S	probably damaging	Het
Ascc3	C	A	10: 50,494,173 (GRCm39)	Q203K	probably benign	Het
Baz2b	A	T	2: 59,742,137 (GRCm39)	D61E		Het
Bmpr1a	T	A	14: 34,136,759 (GRCm39)	K477N	probably benign	Het
Cacna1d	T	C	14: 29,824,364 (GRCm39)	I1040V	probably damaging	Het
Castor2	T	C	5: 134,166,955 (GRCm39)	F304L	possibly damaging	Het
Cdkn2a	C	A	4: 89,200,291 (GRCm39)	V20L	possibly damaging	Het
Chd5	A	G	4: 152,445,173 (GRCm39)	S385G	probably damaging	Het
Cntrob	A	G	11: 69,190,679 (GRCm39)	F46L	unknown	Het
Cth	T	C	3: 157,630,657 (GRCm39)	D4G	probably benign	Het
Cyld	C	T	8: 89,456,197 (GRCm39)	H416Y	probably damaging	Het
Dennd6a	C	A	14: 26,328,098 (GRCm39)	H264Q	possibly damaging	Het
Dnah1	T	C	14: 31,015,682 (GRCm39)	Y1672C	probably damaging	Het
Dnah8	A	G	17: 30,892,814 (GRCm39)	I800V	probably benign	Het
Esrp2	A	G	8: 106,858,853 (GRCm39)	Y595H	probably damaging	Het
Fggy	A	G	4: 95,732,427 (GRCm39)	T473A	probably benign	Het
Garre1	A	T	7: 33,984,569 (GRCm39)	L18Q	probably damaging	Het
Gstt2	C	A	10: 75,668,526 (GRCm39)	R107L	probably damaging	Het
Hectd4	A	T	5: 121,358,319 (GRCm39)		probably benign	Het
Helb	A	G	10: 119,938,791 (GRCm39)	F561S	probably damaging	Het
Ints2	T	C	11: 86,146,249 (GRCm39)	T120A	probably benign	Het
Kdm5d	G	A	Y: 914,056 (GRCm39)	R331H	probably benign	Het
Krt6b	A	G	15: 101,586,455 (GRCm39)	Y345H	probably damaging	Het
Limch1	A	G	5: 67,159,825 (GRCm39)	K418E	probably damaging	Het
Lrrc37	T	A	11: 103,511,726 (GRCm39)	T81S	unknown	Het
Med17	C	T	9: 15,173,735 (GRCm39)		probably null	Het
Met	A	T	6: 17,571,799 (GRCm39)	I1373F	probably benign	Het
Naip6	T	A	13: 100,436,894 (GRCm39)	Q543L	possibly damaging	Het
Nat9	T	C	11: 115,075,902 (GRCm39)	T40A	probably damaging	Het
Notch4	A	T	17: 34,805,763 (GRCm39)		probably null	Het
Ogdh	A	G	11: 6,292,619 (GRCm39)	N455S	probably damaging	Het
Or52k2	C	A	7: 102,254,207 (GRCm39)	F215L	probably benign	Het
Pde4a	T	C	9: 21,117,534 (GRCm39)	F599L	probably benign	Het
Pga5	T	C	19: 10,649,173 (GRCm39)	Y249C	probably damaging	Het
Plekha8	A	T	6: 54,607,539 (GRCm39)	K382M	probably damaging	Het
Plekhd1	A	T	12: 80,753,149 (GRCm39)	E119V	probably damaging	Het
Pnp	A	T	14: 51,185,356 (GRCm39)	H20L	probably benign	Het
Polq	A	T	16: 36,837,559 (GRCm39)		probably null	Het
Psma3	T	G	12: 71,035,250 (GRCm39)	I177R	probably damaging	Het
Ptpn3	A	G	4: 57,240,784 (GRCm39)		probably null	Het
Ptprt	A	T	2: 161,400,806 (GRCm39)	L1077Q	probably damaging	Het
Ralgps2	A	T	1: 156,651,744 (GRCm39)		probably null	Het
Rbm47	A	T	5: 66,184,573 (GRCm39)	M10K	possibly damaging	Het
Rere	A	G	4: 150,703,653 (GRCm39)	D186G	probably damaging	Het
Rpl24	T	C	16: 55,787,453 (GRCm39)	S38P	probably damaging	Het
Slco1a1	A	T	6: 141,885,787 (GRCm39)	F79L	possibly damaging	Het
Sorl1	T	A	9: 41,903,041 (GRCm39)	D1551V	probably benign	Het
Sos1	C	A	17: 80,741,548 (GRCm39)	M412I	probably benign	Het
Spast	G	A	17: 74,666,293 (GRCm39)	V209I	probably benign	Het
Spindoc	G	T	19: 7,335,769 (GRCm39)	Q340K	possibly damaging	Het
Tlr6	T	C	5: 65,111,185 (GRCm39)	Y574C	probably damaging	Het
Tnrc6a	A	G	7: 122,791,346 (GRCm39)	N1748S	possibly damaging	Het
Trbv13-2	A	T	6: 41,098,474 (GRCm39)	K16N	probably benign	Het
Triobp	C	T	15: 78,878,326 (GRCm39)	H1750Y	possibly damaging	Het
Usp24	A	G	4: 106,225,933 (GRCm39)	D659G	possibly damaging	Het
Vmn2r88	T	A	14: 51,656,253 (GRCm39)	C821S	probably damaging	Het
Whamm	T	A	7: 81,224,295 (GRCm39)	V197D	probably damaging	Het
Zfp777	A	G	6: 48,006,101 (GRCm39)	F431S	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
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
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'- TTATGCTTGACAGGCAGGGAC -3'
(R):5'- AGGTTCTGAGCCACTGTGTG -3'

Sequencing Primer
(F):5'- CTTGACAGGCAGGGACCAAGG -3'
(R):5'- GAAGTGCTTCCTGTGTTTTAAGCCC -3'

Posted On

2020-10-20