Mutagenetix > Incidental Mutation

Incidental Mutation 'R0545:F10'

44761

Institutional Source

Beutler Lab

Gene Symbol

F10

Ensembl Gene

ENSMUSG00000031444

Gene Name

coagulation factor X

Synonyms

fX, AI194738, Cf10

MMRRC Submission

038737-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R0545 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

13087308-13106676 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 13098249 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Cysteine to Serine at position 151 (C151S)

Ref Sequence

ENSEMBL: ENSMUSP00000117312 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000033821] [ENSMUST00000063820] [ENSMUST00000123768] [ENSMUST00000128418] [ENSMUST00000152034]

AlphaFold

O88947

Predicted Effect

probably damaging
Transcript: ENSMUST00000033821
AA Change: C163S

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000033821
Gene: ENSMUSG00000031444
AA Change: C163S

Domain	Start	End	E-Value	Type
low complexity region	19	31	N/A	INTRINSIC
GLA	34	97	5.98e-32	SMART
EGF_CA	98	134	4.56e-9	SMART
EGF	140	177	2.66e-1	SMART
low complexity region	201	218	N/A	INTRINSIC
Tryp_SPc	243	471	9.03e-91	SMART

Predicted Effect

probably damaging
Transcript: ENSMUST00000063820
AA Change: C151S

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000068389
Gene: ENSMUSG00000031444
AA Change: C151S

Domain	Start	End	E-Value	Type
low complexity region	7	19	N/A	INTRINSIC
GLA	22	85	5.98e-32	SMART
EGF_CA	86	122	4.56e-9	SMART
EGF	128	165	2.66e-1	SMART
low complexity region	189	206	N/A	INTRINSIC
Tryp_SPc	231	459	9.03e-91	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000123768

SMART Domains

Protein: ENSMUSP00000116984
Gene: ENSMUSG00000031444

Domain	Start	End	E-Value	Type
low complexity region	7	19	N/A	INTRINSIC
GLA	22	85	5.98e-32	SMART
EGF	89	119	2.25e1	SMART

Predicted Effect

probably damaging
Transcript: ENSMUST00000128418
AA Change: C151S

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000121830
Gene: ENSMUSG00000031444
AA Change: C151S

Domain	Start	End	E-Value	Type
low complexity region	7	19	N/A	INTRINSIC
GLA	22	85	5.98e-32	SMART
EGF_CA	86	122	4.56e-9	SMART
EGF	128	165	2.66e-1	SMART
low complexity region	189	206	N/A	INTRINSIC
Pfam:Trypsin	232	298	4e-16	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000152034
AA Change: C151S

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000117312
Gene: ENSMUSG00000031444
AA Change: C151S

Domain	Start	End	E-Value	Type
low complexity region	7	19	N/A	INTRINSIC
GLA	22	85	5.98e-32	SMART
EGF_CA	86	122	4.56e-9	SMART
EGF	128	165	2.66e-1	SMART
low complexity region	189	206	N/A	INTRINSIC
Pfam:Trypsin	232	297	1.1e-15	PFAM

Meta Mutation Damage Score

0.9707

Coding Region Coverage

1x: 99.6%
3x: 98.8%
10x: 96.9%
20x: 94.0%

Validation Efficiency

99% (66/67)

MGI Phenotype

FUNCTION: This gene encodes factor X, a component of both the intrinsic and extrinsic blood coagulation pathways. The encoded protein is a zymogen that undergoes further processing in a vitamin K-dependent manner to generate mature factor X, a heterodimer comprised of disulfide-linked heavy and light chains. The mature factor X is proteolytically activated either by factor IXa (intrinsic pathway) or factor VIIa (extrinsic pathway) to form factor Xa serine endopeptidase. Activated factor Xa catalyzes the conversion of prothrombin to thrombin. A complete lack of the encoded protein is fatal to mice. A severe deficiency of the encoded protein in mice causes age-dependent iron deposition and cardiac fibrosis. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Aug 2015]
PHENOTYPE: Most homozygous mice die from fatal bleeding events at embryonic and neonatal stages, with the remaining homozygous mice dying before weaning stages. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 65 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4921504E06Rik	C	T	2: 19,547,187 (GRCm39)	R76H	probably damaging	Het
Adnp2	T	C	18: 80,172,616 (GRCm39)	I598V	probably benign	Het
Ago3	T	C	4: 126,311,025 (GRCm39)	N63D	probably damaging	Het
Alkbh7	C	T	17: 57,306,012 (GRCm39)	R138*	probably null	Het
Atp6ap1l	T	C	13: 91,031,782 (GRCm39)	H300R	probably benign	Het
BC051076	C	T	5: 88,111,349 (GRCm39)		noncoding transcript	Het
Bltp1	G	A	3: 37,041,839 (GRCm39)		probably benign	Het
Bpifb9a	T	A	2: 154,103,870 (GRCm39)	C104*	probably null	Het
Cacna2d2	T	C	9: 107,402,422 (GRCm39)	L826P	probably damaging	Het
Car5b	G	A	X: 162,762,297 (GRCm39)	R282C	probably damaging	Het
Ccdc88c	T	C	12: 100,913,447 (GRCm39)	D526G	probably damaging	Het
Cdh23	T	A	10: 60,167,070 (GRCm39)	T1861S	probably benign	Het
Ces2f	A	C	8: 105,676,668 (GRCm39)	M121L	possibly damaging	Het
Cfap58	G	A	19: 47,929,536 (GRCm39)		probably benign	Het
Chpf2	T	C	5: 24,795,322 (GRCm39)	S282P	possibly damaging	Het
Cluap1	C	T	16: 3,751,636 (GRCm39)	R332W	probably damaging	Het
Cma2	A	T	14: 56,210,570 (GRCm39)	M86L	probably benign	Het
Cog6	A	T	3: 52,903,496 (GRCm39)	M134K	probably damaging	Het
Col1a1	A	G	11: 94,842,420 (GRCm39)	D1446G	unknown	Het
Cpne8	T	A	15: 90,381,278 (GRCm39)	D512V	probably damaging	Het
Ctnna2	T	A	6: 77,582,165 (GRCm39)	N352I	probably damaging	Het
Cyp2c69	A	C	19: 39,875,105 (GRCm39)	L16R	probably damaging	Het
Dysf	T	C	6: 84,076,443 (GRCm39)	S603P	probably damaging	Het
Epha5	A	G	5: 84,215,217 (GRCm39)		probably null	Het
Ercc3	T	C	18: 32,378,955 (GRCm39)	S270P	probably damaging	Het
Gpr180	T	G	14: 118,397,458 (GRCm39)	H317Q	possibly damaging	Het
Gstp2	T	C	19: 4,091,633 (GRCm39)	E32G	possibly damaging	Het
Ikzf5	T	C	7: 130,994,229 (GRCm39)	T133A	possibly damaging	Het
Itch	G	T	2: 155,024,218 (GRCm39)	G274*	probably null	Het
Jarid2	T	A	13: 45,056,307 (GRCm39)	N365K	probably benign	Het
Lama3	T	A	18: 12,694,758 (GRCm39)	S1295T	possibly damaging	Het
Lipc	A	G	9: 70,719,987 (GRCm39)	L255P	probably damaging	Het
Lrrc38	A	G	4: 143,077,328 (GRCm39)	D197G	probably benign	Het
Mfap2	A	G	4: 140,741,496 (GRCm39)		probably benign	Het
Mfhas1	A	G	8: 36,056,202 (GRCm39)	K226E	probably damaging	Het
Morc1	A	G	16: 48,386,020 (GRCm39)	R548G	probably benign	Het
Mrgprb5	T	C	7: 47,818,633 (GRCm39)	N34S	probably benign	Het
Mroh4	T	C	15: 74,497,276 (GRCm39)	T182A	probably benign	Het
Mylk	G	C	16: 34,699,845 (GRCm39)	E403Q	possibly damaging	Het
Myo5a	T	C	9: 75,074,319 (GRCm39)	F743L	possibly damaging	Het
Notch4	A	C	17: 34,802,407 (GRCm39)	D1276A	probably damaging	Het
Or1e34	A	T	11: 73,778,843 (GRCm39)	Y118*	probably null	Het
Or3a10	A	G	11: 73,935,873 (GRCm39)	C76R	possibly damaging	Het
Or6c209	T	A	10: 129,483,218 (GRCm39)	C74S	probably damaging	Het
Or6d15	T	A	6: 116,559,617 (GRCm39)	I97L	probably benign	Het
Plin4	T	A	17: 56,413,567 (GRCm39)	T353S	probably damaging	Het
Ppp1r9a	A	G	6: 5,115,357 (GRCm39)	T827A	probably benign	Het
Prlr	C	T	15: 10,317,652 (GRCm39)	T40I	probably damaging	Het
Psme3	T	C	11: 101,210,730 (GRCm39)		probably benign	Het
Pygb	A	T	2: 150,657,626 (GRCm39)	D363V	probably benign	Het
Rsph6a	C	T	7: 18,788,871 (GRCm39)	Q68*	probably null	Het
Serpini2	A	G	3: 75,165,445 (GRCm39)	V178A	probably benign	Het
Sh2d2a	T	C	3: 87,759,195 (GRCm39)		probably benign	Het
Skint7	A	C	4: 111,837,395 (GRCm39)	M58L	probably benign	Het
Slco3a1	G	T	7: 73,970,301 (GRCm39)	Y435*	probably null	Het
Stk17b	T	C	1: 53,801,742 (GRCm39)		probably benign	Het
Tinag	T	A	9: 76,938,992 (GRCm39)	H162L	possibly damaging	Het
Ttc21a	T	A	9: 119,787,865 (GRCm39)	L811Q	probably damaging	Het
Ttc41	A	T	10: 86,594,961 (GRCm39)	M912L	probably benign	Het
Vmn2r98	G	T	17: 19,273,875 (GRCm39)	V41F	probably benign	Het
Washc5	C	T	15: 59,213,942 (GRCm39)	C838Y	possibly damaging	Het
Wrnip1	A	G	13: 32,990,796 (GRCm39)	T352A	probably damaging	Het
Zan	A	C	5: 137,394,439 (GRCm39)	C4467G	unknown	Het
Zc3h7a	T	C	16: 10,970,197 (GRCm39)		probably benign	Het
Zfp729a	C	A	13: 67,768,345 (GRCm39)	C628F	probably benign	Het

Other mutations in F10

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01104:F10	APN	8	13,105,686 (GRCm39)	missense	probably damaging	1.00
IGL01296:F10	APN	8	13,105,383 (GRCm39)	missense	possibly damaging	0.49
IGL02010:F10	APN	8	13,098,292 (GRCm39)	missense	probably damaging	0.97
IGL02707:F10	APN	8	13,098,252 (GRCm39)	missense	probably damaging	1.00
IGL02716:F10	APN	8	13,098,177 (GRCm39)	nonsense	probably null
IGL03354:F10	APN	8	13,095,089 (GRCm39)	missense	probably benign	0.00
ju	UTSW	8	13,105,698 (GRCm39)	missense	probably damaging	1.00
PIT4494001:F10	UTSW	8	13,103,423 (GRCm39)	missense	probably damaging	1.00
R0243:F10	UTSW	8	13,098,196 (GRCm39)	missense	probably damaging	1.00
R0321:F10	UTSW	8	13,103,413 (GRCm39)	missense	possibly damaging	0.95
R0416:F10	UTSW	8	13,105,448 (GRCm39)	missense	probably damaging	1.00
R0421:F10	UTSW	8	13,095,097 (GRCm39)	missense	probably benign	0.05
R1630:F10	UTSW	8	13,105,551 (GRCm39)	missense	probably benign	0.00
R1732:F10	UTSW	8	13,100,764 (GRCm39)	missense	probably damaging	1.00
R1956:F10	UTSW	8	13,105,422 (GRCm39)	missense	probably damaging	1.00
R4130:F10	UTSW	8	13,105,584 (GRCm39)	missense	possibly damaging	0.94
R4700:F10	UTSW	8	13,089,621 (GRCm39)	missense	possibly damaging	0.93
R4989:F10	UTSW	8	13,105,698 (GRCm39)	missense	probably damaging	1.00
R5133:F10	UTSW	8	13,105,698 (GRCm39)	missense	probably damaging	1.00
R5134:F10	UTSW	8	13,105,698 (GRCm39)	missense	probably damaging	1.00
R6826:F10	UTSW	8	13,096,165 (GRCm39)	splice site	probably null
R7601:F10	UTSW	8	13,100,781 (GRCm39)	missense	probably benign	0.26
R8164:F10	UTSW	8	13,100,781 (GRCm39)	missense	probably benign	0.26
R8936:F10	UTSW	8	13,095,086 (GRCm39)	missense	probably damaging	1.00
R9165:F10	UTSW	8	13,089,564 (GRCm39)	missense	probably benign	0.00
R9260:F10	UTSW	8	13,105,638 (GRCm39)	missense	probably damaging	1.00
R9294:F10	UTSW	8	13,098,177 (GRCm39)	nonsense	probably null
X0024:F10	UTSW	8	13,105,859 (GRCm39)	missense	probably benign
Z1177:F10	UTSW	8	13,087,845 (GRCm39)	missense	probably benign	0.00

Predicted Primers

PCR Primer
(F):5'- GGCAATGTAGCCAGCATGTCAGAG -3'
(R):5'- ACAACAGTGCCAGTCACTTCAAGG -3'

Sequencing Primer
(F):5'- CAGCATGTCAGAGTTTGTCAC -3'
(R):5'- TTCCATGCTTGAACTGTAGGAC -3'

Posted On

2013-06-11