Mutagenetix > Incidental Mutation

Incidental Mutation 'R2037:F8'

224870

Institutional Source

Beutler Lab

Gene Symbol

Ensembl Gene

ENSMUSG00000031196

Gene Name

coagulation factor VIII

Synonyms

Cf8, Cf-8, FVIII, Factor VIII

MMRRC Submission

040044-MU

Accession Numbers

Essential gene?

Possibly non essential (E-score: 0.350) question?

Stock #

R2037 (G1)

Quality Score

214

Status

Not validated

Chromosome

Chromosomal Location

74216321-74426221 bp(-) (GRCm39)

Type of Mutation

frame shift

DNA Base Change (assembly)

ATCTCTCTC to ATCTCTC at 74366604 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000109719 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000033539] [ENSMUST00000114085]

AlphaFold

Q06194

Predicted Effect

probably null
Transcript: ENSMUST00000033539

SMART Domains

Protein: ENSMUSP00000033539
Gene: ENSMUSG00000031196

Domain	Start	End	E-Value	Type
signal peptide	1	19	N/A	INTRINSIC
Pfam:Cu-oxidase_3	89	203	3.6e-7	PFAM
low complexity region	359	377	N/A	INTRINSIC
Pfam:Cu-oxidase_3	444	577	8.8e-7	PFAM
low complexity region	1210	1231	N/A	INTRINSIC
low complexity region	1268	1278	N/A	INTRINSIC
low complexity region	1360	1375	N/A	INTRINSIC
internal_repeat_1	1683	2005	3.96e-46	PROSPERO
FA58C	2007	2156	7.3e-48	SMART
FA58C	2160	2313	2.36e-24	SMART

Predicted Effect

probably null
Transcript: ENSMUST00000114085

SMART Domains

Protein: ENSMUSP00000109719
Gene: ENSMUSG00000031196

Domain	Start	End	E-Value	Type
signal peptide	1	19	N/A	INTRINSIC
Pfam:Cu-oxidase_3	89	203	3.1e-7	PFAM
low complexity region	359	377	N/A	INTRINSIC
Pfam:Cu-oxidase_3	446	577	7.4e-7	PFAM
low complexity region	1140	1161	N/A	INTRINSIC
low complexity region	1198	1208	N/A	INTRINSIC
low complexity region	1290	1305	N/A	INTRINSIC
internal_repeat_2	1613	1838	3.99e-33	PROSPERO
internal_repeat_1	1615	1935	1.02e-41	PROSPERO
FA58C	1937	2086	7.3e-48	SMART
FA58C	2090	2243	2.36e-24	SMART

Coding Region Coverage

1x: 99.2%
3x: 98.5%
10x: 96.9%
20x: 94.0%

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes coagulation factor VIII, which participates in the intrinsic pathway of blood coagulation; factor VIII is a cofactor for factor IXa which, in the presence of Ca+2 and phospholipids, converts factor X to the activated form Xa. This gene produces two alternatively spliced transcripts. Transcript variant 1 encodes a large glycoprotein, isoform a, which circulates in plasma and associates with von Willebrand factor in a noncovalent complex. This protein undergoes multiple cleavage events. Transcript variant 2 encodes a putative small protein, isoform b, which consists primarily of the phospholipid binding domain of factor VIIIc. This binding domain is essential for coagulant activity. Defects in this gene results in hemophilia A, a common recessive X-linked coagulation disorder. [provided by RefSeq, Jul 2008]
PHENOTYPE: Male hemizygotes and female homozygotes for targeted null mutations produce no factor VIII, but are apparently healthy and fertile. However, affected mice show prolonged, exsanguinating bleeding following tail-clipping. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 70 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca8a	A	T	11: 109,980,810 (GRCm39)		probably null	Het
AI987944	T	C	7: 41,023,815 (GRCm39)	Y391C	probably benign	Het
Ankfn1	A	T	11: 89,346,946 (GRCm39)	S296T	probably benign	Het
Apob	A	G	12: 8,057,488 (GRCm39)	D1957G	probably benign	Het
Baz1a	G	T	12: 54,976,431 (GRCm39)	P415Q	probably damaging	Het
Brca2	T	A	5: 150,464,134 (GRCm39)	H1299Q	probably benign	Het
C7	G	T	15: 5,063,720 (GRCm39)	S227*	probably null	Het
Catsperb	A	T	12: 101,474,221 (GRCm39)	R306S	probably damaging	Het
Cbx3	T	A	6: 51,448,793 (GRCm39)		probably null	Het
Ccnt2	A	G	1: 127,731,136 (GRCm39)	Y671C	probably damaging	Het
Crocc	A	G	4: 140,774,253 (GRCm39)		probably null	Het
Ctr9	G	A	7: 110,646,014 (GRCm39)	V669I	probably benign	Het
Dck	T	G	5: 88,920,576 (GRCm39)	Y99D	probably damaging	Het
Ddx52	T	A	11: 83,835,432 (GRCm39)	D119E	probably benign	Het
Dnah10	A	T	5: 124,823,768 (GRCm39)	K596N	probably benign	Het
Dnah7a	A	T	1: 53,621,741 (GRCm39)	V1128E	probably benign	Het
Dph1	A	T	11: 75,076,679 (GRCm39)		probably null	Het
Enah	G	A	1: 181,749,537 (GRCm39)	P415L	probably damaging	Het
Enthd1	A	G	15: 80,444,550 (GRCm39)	S2P	possibly damaging	Het
Erc1	A	C	6: 119,699,216 (GRCm39)	V802G	possibly damaging	Het
Fam169a	C	A	13: 97,243,600 (GRCm39)	A210E	probably benign	Het
Fcmr	A	G	1: 130,806,070 (GRCm39)	D342G	possibly damaging	Het
Fgfr4	T	G	13: 55,315,702 (GRCm39)	V743G	possibly damaging	Het
Fsip2	A	G	2: 82,808,856 (GRCm39)	D1725G	probably damaging	Het
Heatr5b	A	T	17: 79,136,934 (GRCm39)	C195*	probably null	Het
Herc2	G	A	7: 55,855,709 (GRCm39)	A3882T	probably damaging	Het
Il20	T	A	1: 130,836,115 (GRCm39)	N143Y	probably damaging	Het
Inpp5b	A	G	4: 124,692,092 (GRCm39)	S892G	probably damaging	Het
Ipo13	A	T	4: 117,761,858 (GRCm39)	Y447*	probably null	Het
Itprid1	A	G	6: 55,874,860 (GRCm39)	N270S	probably benign	Het
Kbtbd12	A	T	6: 88,594,779 (GRCm39)	N350K	probably benign	Het
Kiz	T	C	2: 146,811,880 (GRCm39)	F663S	probably damaging	Het
Matn2	A	G	15: 34,433,263 (GRCm39)	D870G	probably benign	Het
Methig1	C	T	15: 100,251,467 (GRCm39)	A126V	probably benign	Het
Mme	A	G	3: 63,235,681 (GRCm39)	D209G	probably null	Het
Mroh4	A	G	15: 74,481,610 (GRCm39)	F811L	possibly damaging	Het
Myo9b	G	T	8: 71,743,510 (GRCm39)	K190N	probably damaging	Het
Ncf1	T	C	5: 134,258,406 (GRCm39)	I6V	probably damaging	Het
Nmt2	T	C	2: 3,310,618 (GRCm39)	F121L	probably damaging	Het
Nol10	A	G	12: 17,411,152 (GRCm39)	D183G	probably benign	Het
Nsun7	T	C	5: 66,418,429 (GRCm39)	V53A	probably benign	Het
Or10u4	T	C	10: 129,802,009 (GRCm39)	I187V	probably benign	Het
Or8j3	T	C	2: 86,028,176 (GRCm39)	S307G	probably benign	Het
Or8k22	T	C	2: 86,162,774 (GRCm39)	N309D	probably benign	Het
Pappa2	A	T	1: 158,784,214 (GRCm39)	Y265*	probably null	Het
Pigg	G	A	5: 108,486,518 (GRCm39)	A724T	probably damaging	Het
Pik3r4	C	T	9: 105,527,534 (GRCm39)	R296C	probably benign	Het
Pkhd1l1	A	G	15: 44,431,617 (GRCm39)		probably null	Het
Pld4	A	G	12: 112,734,992 (GRCm39)	D483G	probably damaging	Het
Ppip5k1	C	T	2: 121,173,674 (GRCm39)	R399H	probably damaging	Het
Qrfpr	A	T	3: 36,236,806 (GRCm39)	H198Q	probably damaging	Het
Rasgrf2	A	T	13: 92,050,748 (GRCm39)	D883E	probably damaging	Het
Retnlg	T	C	16: 48,694,615 (GRCm39)	C88R	probably damaging	Het
Sin3a	C	T	9: 57,004,109 (GRCm39)	T287I	probably benign	Het
Slc44a1	GCC	GCCCCC	4: 53,563,243 (GRCm39)		probably benign	Het
Sppl2c	G	C	11: 104,077,307 (GRCm39)	V36L	probably benign	Het
Srp72	T	A	5: 77,124,338 (GRCm39)	I68N	probably damaging	Het
Srrm3	T	A	5: 135,883,231 (GRCm39)	S195R	probably damaging	Het
Srrm4	T	A	5: 116,605,887 (GRCm39)		probably benign	Het
Ssb	A	G	2: 69,699,163 (GRCm39)	S199G	probably benign	Het
Sult2a6	T	A	7: 13,988,634 (GRCm39)	Y42F	probably damaging	Het
Syne2	A	G	12: 76,072,343 (GRCm39)	T120A	probably benign	Het
Tas1r1	A	G	4: 152,112,627 (GRCm39)	F809L	probably damaging	Het
Tead3	A	G	17: 28,555,544 (GRCm39)	S117P	probably damaging	Het
Tefm	C	T	11: 80,031,056 (GRCm39)	R60H	probably damaging	Het
Tmem104	G	A	11: 115,092,221 (GRCm39)	R110H	possibly damaging	Het
Tnxb	G	A	17: 34,918,179 (GRCm39)	G2364D	probably damaging	Het
Vmn1r211	T	A	13: 23,036,134 (GRCm39)	I178F	probably damaging	Het
Vmn1r6	A	T	6: 56,980,109 (GRCm39)	Y235F	probably damaging	Het
Xrcc5	C	A	1: 72,385,529 (GRCm39)	T540K	probably benign	Het

Other mutations in F8

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00769:F8	APN	X	74,377,786 (GRCm39)	unclassified	probably benign
IGL01079:F8	APN	X	74,330,224 (GRCm39)	missense	probably damaging	0.98
IGL01101:F8	APN	X	74,330,993 (GRCm39)	missense	possibly damaging	0.62
IGL01160:F8	APN	X	74,331,667 (GRCm39)	missense	probably damaging	0.99
IGL01397:F8	APN	X	74,423,145 (GRCm39)	missense	probably benign
IGL02043:F8	APN	X	74,376,247 (GRCm39)	missense	probably benign	0.00
IGL02479:F8	APN	X	74,331,846 (GRCm39)	missense	probably damaging	0.98
IGL02505:F8	APN	X	74,423,204 (GRCm39)	intron	probably benign
IGL02869:F8	APN	X	74,330,987 (GRCm39)	missense	probably benign	0.00
IGL03004:F8	APN	X	74,255,658 (GRCm39)	missense	probably damaging	1.00
R0657:F8	UTSW	X	74,255,022 (GRCm39)	missense	possibly damaging	0.86
R0699:F8	UTSW	X	74,423,230 (GRCm39)	intron	probably benign
R2035:F8	UTSW	X	74,366,604 (GRCm39)	frame shift	probably null
R3436:F8	UTSW	X	74,311,030 (GRCm39)	splice site	probably benign
R3735:F8	UTSW	X	74,254,981 (GRCm39)	missense	probably damaging	1.00
R3736:F8	UTSW	X	74,254,981 (GRCm39)	missense	probably damaging	1.00
R3792:F8	UTSW	X	74,328,971 (GRCm39)	critical splice donor site	probably null
X0009:F8	UTSW	X	74,331,389 (GRCm39)	missense	probably benign	0.36
Z1088:F8	UTSW	X	74,366,755 (GRCm39)	splice site	probably null

Predicted Primers

PCR Primer
(F):5'- ACTCACCTTAATCACTTTTATTGGG -3'
(R):5'- ATACTCTAATACTCTGTTTCTGGTTTG -3'

Sequencing Primer
(F):5'- CAGGGAATATCTAGAAGTTCAT -3'
(R):5'- TTGAATGTGGATAGGTATAAAGCAC -3'

Posted On

2014-08-25