Mutagenetix > Incidental Mutation

Incidental Mutation 'R0699:F8'

62986

Institutional Source

Beutler Lab

Gene Symbol

Ensembl Gene

ENSMUSG00000031196

Gene Name

coagulation factor VIII

Synonyms

Cf8, Cf-8, FVIII, Factor VIII

MMRRC Submission

038883-MU

Accession Numbers

Essential gene?

Possibly non essential (E-score: 0.328) question?

Stock #

R0699 (G1)

Quality Score

118

Status

Validated

Chromosome

Chromosomal Location

74216321-74426221 bp(-) (GRCm39)

Type of Mutation

intron

DNA Base Change (assembly)

T to C at 74423230 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000117919 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000033539] [ENSMUST00000033541] [ENSMUST00000114085] [ENSMUST00000147349] [ENSMUST00000151772]

AlphaFold

Q06194

Predicted Effect

unknown
Transcript: ENSMUST00000033539
AA Change: I3M

SMART Domains

Protein: ENSMUSP00000033539
Gene: ENSMUSG00000031196
AA Change: I3M

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 benign
Transcript: ENSMUST00000033541

SMART Domains

Protein: ENSMUSP00000033541
Gene: ENSMUSG00000031198

Domain	Start	End	E-Value	Type
Pfam:FUN14	49	149	2.4e-31	PFAM

Predicted Effect

unknown
Transcript: ENSMUST00000114085
AA Change: I3M

SMART Domains

Protein: ENSMUSP00000109719
Gene: ENSMUSG00000031196
AA Change: I3M

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

Predicted Effect

probably benign
Transcript: ENSMUST00000147349

SMART Domains

Protein: ENSMUSP00000114207
Gene: ENSMUSG00000031196

Domain	Start	End	E-Value	Type
Pfam:Cu-oxidase_3	82	196	5.3e-9	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000147998

Predicted Effect

probably benign
Transcript: ENSMUST00000151772

SMART Domains

Protein: ENSMUSP00000117919
Gene: ENSMUSG00000031196

Domain	Start	End	E-Value	Type
Pfam:Cu-oxidase_3	36	114	5.4e-8	PFAM

Meta Mutation Damage Score

0.0884

Coding Region Coverage

1x: 99.3%
3x: 98.7%
10x: 97.3%
20x: 94.8%

Validation Efficiency

98% (120/123)

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: 95 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca13	G	A	11: 9,538,508 (GRCm39)		probably benign	Het
Abcb6	C	T	1: 75,148,553 (GRCm39)	E89K	probably damaging	Het
Adam25	C	A	8: 41,209,011 (GRCm39)	T759K	probably benign	Het
Adgrf5	G	A	17: 43,733,552 (GRCm39)		probably null	Het
Aimp1	A	T	3: 132,380,626 (GRCm39)		probably benign	Het
Aldh3a2	C	T	11: 61,153,148 (GRCm39)	V193I	probably benign	Het
Ank2	C	T	3: 126,723,478 (GRCm39)	V950I	probably benign	Het
Aspn	A	G	13: 49,705,258 (GRCm39)	D40G	possibly damaging	Het
C1rl	A	G	6: 124,485,595 (GRCm39)	D322G	probably benign	Het
Car5a	T	C	8: 122,671,555 (GRCm39)		probably benign	Het
Cfap107	G	T	4: 144,146,322 (GRCm39)	N110K	probably damaging	Het
Cfap157	T	A	2: 32,669,022 (GRCm39)	K360N	probably damaging	Het
Cilp	T	A	9: 65,177,608 (GRCm39)	F117Y	probably damaging	Het
Cntnap5c	T	G	17: 58,349,493 (GRCm39)	W269G	probably damaging	Het
Col6a1	A	G	10: 76,552,114 (GRCm39)	V459A	unknown	Het
Commd3	A	G	2: 18,679,786 (GRCm39)	E165G	possibly damaging	Het
Cops3	A	C	11: 59,717,148 (GRCm39)	Y244D	probably damaging	Het
Cpne5	T	A	17: 29,428,667 (GRCm39)	K108N	probably damaging	Het
Cracdl	T	C	1: 37,651,411 (GRCm39)	D1152G	possibly damaging	Het
Ddx41	A	G	13: 55,679,112 (GRCm39)		probably benign	Het
Dnhd1	T	C	7: 105,301,113 (GRCm39)	Y157H	probably damaging	Het
Dpp8	A	T	9: 64,962,176 (GRCm39)	L405F	probably benign	Het
Dync2h1	G	T	9: 7,103,680 (GRCm39)	A365E	probably benign	Het
Dysf	C	T	6: 84,167,828 (GRCm39)	R1757W	probably benign	Het
Eif1ad	T	A	19: 5,418,726 (GRCm39)	V93D	possibly damaging	Het
Eif2ak3	T	C	6: 70,869,514 (GRCm39)	F734L	probably benign	Het
Fbxl14	T	C	6: 119,457,715 (GRCm39)	Y299H	probably benign	Het
Fmo1	T	C	1: 162,661,341 (GRCm39)	N314S	probably benign	Het
Fnip2	T	C	3: 79,388,446 (GRCm39)	T762A	probably benign	Het
Gfra1	A	C	19: 58,258,555 (GRCm39)	S271A	probably benign	Het
Gm9932	T	C	5: 100,346,931 (GRCm39)	V43A	probably damaging	Het
Herc6	T	C	6: 57,558,092 (GRCm39)	L24P	probably damaging	Het
Hmcn1	T	C	1: 150,695,161 (GRCm39)	T248A	probably damaging	Het
Hook1	T	A	4: 95,884,077 (GRCm39)		probably benign	Het
Ifne	T	C	4: 88,798,014 (GRCm39)	S135G	probably benign	Het
Igkv13-84	G	A	6: 68,916,635 (GRCm39)		probably benign	Het
Itm2b	T	A	14: 73,602,065 (GRCm39)	N211I	probably damaging	Het
Kcnh5	A	T	12: 75,023,305 (GRCm39)	C588S	possibly damaging	Het
Kif13a	A	T	13: 46,952,689 (GRCm39)	W699R	possibly damaging	Het
Kmt2e	T	C	5: 23,678,581 (GRCm39)	V220A	probably benign	Het
Macrod2	T	C	2: 140,260,836 (GRCm39)		probably null	Het
Map3k6	A	G	4: 132,975,437 (GRCm39)	E724G	probably damaging	Het
Mgam	T	C	6: 40,619,953 (GRCm39)	L14P	possibly damaging	Het
Morc1	T	A	16: 48,412,977 (GRCm39)	M706K	probably benign	Het
Muc2	T	C	7: 141,306,037 (GRCm39)	V242A	probably damaging	Het
Mx2	T	A	16: 97,345,753 (GRCm39)	V57E	probably damaging	Het
Myh14	C	A	7: 44,274,395 (GRCm39)	A1339S	possibly damaging	Het
Myom1	G	T	17: 71,374,308 (GRCm39)	S595I	probably damaging	Het
Nav1	T	A	1: 135,380,687 (GRCm39)	M1471L	probably benign	Het
Ncapd2	A	C	6: 125,146,843 (GRCm39)	S1248A	probably benign	Het
Ncbp1	T	C	4: 46,147,528 (GRCm39)	V125A	probably benign	Het
Ncor2	A	T	5: 125,106,176 (GRCm39)		probably benign	Het
Nobox	T	A	6: 43,284,144 (GRCm39)	Q134L	probably benign	Het
Npc1	T	C	18: 12,343,632 (GRCm39)	T454A	probably benign	Het
Ntng1	G	T	3: 109,779,611 (GRCm39)	T322K	probably damaging	Het
Olfm5	T	C	7: 103,803,326 (GRCm39)	E379G	probably damaging	Het
Oma1	T	C	4: 103,210,792 (GRCm39)	S433P	probably damaging	Het
Or1ad6	T	C	11: 50,860,645 (GRCm39)	S267P	probably damaging	Het
Or1b1	T	C	2: 36,995,074 (GRCm39)	D196G	possibly damaging	Het
Or4c105	A	T	2: 88,647,568 (GRCm39)	N18Y	probably damaging	Het
Or4c107	C	T	2: 88,788,960 (GRCm39)	T50I	probably benign	Het
Or4c113	C	T	2: 88,885,636 (GRCm39)	V45M	possibly damaging	Het
Parp14	G	A	16: 35,680,955 (GRCm39)	T226M	probably damaging	Het
Parp8	A	T	13: 117,059,120 (GRCm39)	H168Q	probably benign	Het
Pik3cg	G	A	12: 32,247,341 (GRCm39)		probably benign	Het
Pla2g3	T	C	11: 3,442,000 (GRCm39)	F388S	probably damaging	Het
Plaat3	T	A	19: 7,535,366 (GRCm39)		probably null	Het
Pllp	T	C	8: 95,422,660 (GRCm39)		probably null	Het
Ppfibp1	T	A	6: 146,927,720 (GRCm39)	V778E	probably damaging	Het
Prkci	T	C	3: 31,104,422 (GRCm39)	V595A	possibly damaging	Het
Prune2	T	A	19: 17,101,319 (GRCm39)	D2274E	probably damaging	Het
Rad51ap2	A	T	12: 11,507,601 (GRCm39)	T508S	probably benign	Het
Ranbp3l	T	C	15: 9,058,850 (GRCm39)		probably null	Het
Rfc1	A	C	5: 65,476,742 (GRCm39)		probably null	Het
Rin3	G	A	12: 102,335,834 (GRCm39)	V502I	probably damaging	Het
Rtn4rl1	A	T	11: 75,156,048 (GRCm39)	H160L	possibly damaging	Het
Rtn4rl1	A	T	11: 75,156,050 (GRCm39)	I161F	probably benign	Het
Serpinb9b	A	T	13: 33,217,549 (GRCm39)	M116L	probably benign	Het
Sgo2a	C	T	1: 58,037,308 (GRCm39)	R18*	probably null	Het
Sh3gl2	T	A	4: 85,265,408 (GRCm39)	D31E	probably benign	Het
Slc38a9	T	C	13: 112,859,823 (GRCm39)	L419S	probably damaging	Het
Sp8	AGCGGCGGCGGCGGCGG	AGCGGCGGCGGCGG	12: 118,812,555 (GRCm39)		probably benign	Het
Spen	G	T	4: 141,201,702 (GRCm39)	N2308K	possibly damaging	Het
Stac2	A	G	11: 97,933,611 (GRCm39)	I156T	possibly damaging	Het
Stambp	A	G	6: 83,533,303 (GRCm39)	F320S	probably damaging	Het
Tas2r117	A	T	6: 132,780,161 (GRCm39)	N100Y	probably damaging	Het
Tigd3	A	T	19: 5,941,974 (GRCm39)	S385R	probably benign	Het
Tmem30c	T	C	16: 57,097,152 (GRCm39)	D136G	possibly damaging	Het
Tnfrsf21	C	T	17: 43,349,104 (GRCm39)	H239Y	probably benign	Het
Tnrc6c	A	G	11: 117,613,447 (GRCm39)	Q535R	probably benign	Het
Trmt2a	T	C	16: 18,067,393 (GRCm39)	V22A	probably benign	Het
Tut7	G	A	13: 59,929,828 (GRCm39)		probably benign	Het
Wipf3	A	C	6: 54,460,817 (GRCm39)	K88N	probably damaging	Het
Zfp974	T	C	7: 27,611,416 (GRCm39)	E103G	possibly damaging	Het
Zscan10	C	T	17: 23,827,092 (GRCm39)	T135I	probably damaging	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
R2035:F8	UTSW	X	74,366,604 (GRCm39)	frame shift	probably null
R2037: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'- ATTACTGACTGGACCCCTTAGTCTACG -3'
(R):5'- GTGCCTGCTTCCTACTACCCAAAAG -3'

Sequencing Primer
(F):5'- cacacacatacacacaaacaaac -3'
(R):5'- GTGCTAATGCTACTTTCACTCACAG -3'

Posted On

2013-07-30