Mutagenetix > Incidental Mutation

Incidental Mutation 'R9165:F10'

695996

Institutional Source

Beutler Lab

Gene Symbol

F10

Ensembl Gene

ENSMUSG00000031444

Gene Name

coagulation factor X

Synonyms

fX, AI194738, Cf10

MMRRC Submission

068945-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R9165 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

13087308-13106676 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 13089564 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Phenylalanine to Leucine at position 60 (F60L)

Ref Sequence

ENSEMBL: ENSMUSP00000033821 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000033820] [ENSMUST00000033821] [ENSMUST00000063820] [ENSMUST00000123768] [ENSMUST00000128418] [ENSMUST00000152034]

AlphaFold

O88947

Predicted Effect

probably benign
Transcript: ENSMUST00000033820

SMART Domains

Protein: ENSMUSP00000033820
Gene: ENSMUSG00000031443

Domain	Start	End	E-Value	Type
low complexity region	7	22	N/A	INTRINSIC
GLA	23	86	5.41e-30	SMART
EGF_CA	87	123	2.58e-8	SMART
EGF	131	169	1.99e0	SMART
Tryp_SPc	193	428	1.14e-87	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000033821
AA Change: F60L

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000033821
Gene: ENSMUSG00000031444
AA Change: F60L

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 benign
Transcript: ENSMUST00000063820
AA Change: F48L

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000068389
Gene: ENSMUSG00000031444
AA Change: F48L

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
AA Change: F48L

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000116984
Gene: ENSMUSG00000031444
AA Change: F48L

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 benign
Transcript: ENSMUST00000128418
AA Change: F48L

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)

SMART Domains

Protein: ENSMUSP00000121830
Gene: ENSMUSG00000031444
AA Change: F48L

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 benign
Transcript: ENSMUST00000152034
AA Change: F48L

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000117312
Gene: ENSMUSG00000031444
AA Change: F48L

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

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 99.2%

Validation Efficiency

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: 79 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700122O11Rik	T	C	17: 48,348,357 (GRCm39)	I27V	probably benign	Het
A2ml1	T	A	6: 128,537,632 (GRCm39)	H693L	probably benign	Het
Acacb	A	G	5: 114,354,744 (GRCm39)	E1206G	probably benign	Het
Acoxl	A	G	2: 127,726,432 (GRCm39)	T269A	probably benign	Het
Ak9	A	G	10: 41,309,235 (GRCm39)	K1879R	unknown	Het
Amot	A	T	X: 144,244,745 (GRCm39)	L435H		Het
Bnc2	A	T	4: 84,329,731 (GRCm39)	L95Q		Het
Bpifa2	G	T	2: 153,851,741 (GRCm39)	W59L	probably benign	Het
Cd209a	T	A	8: 3,795,602 (GRCm39)	Q156H	probably damaging	Het
Cep104	T	A	4: 154,078,971 (GRCm39)		probably null	Het
Cpt1c	A	G	7: 44,608,925 (GRCm39)	*799R	probably null	Het
Csn2	A	T	5: 87,842,418 (GRCm39)	M203K	possibly damaging	Het
Dclre1a	C	G	19: 56,526,801 (GRCm39)	A872P	probably damaging	Het
Dlg5	C	A	14: 24,196,309 (GRCm39)	L1629F	probably damaging	Het
Dmxl1	A	G	18: 50,011,992 (GRCm39)	D1383G	probably damaging	Het
Dnah6	A	G	6: 73,121,924 (GRCm39)	V1381A	probably damaging	Het
Dnttip2	G	T	3: 122,070,355 (GRCm39)	E523D	probably benign	Het
Dync2h1	A	T	9: 7,114,883 (GRCm39)	V2425D	probably damaging	Het
Eif1ad11	A	G	12: 87,994,077 (GRCm39)	S102G	possibly damaging	Het
Eif2a	G	A	3: 58,452,695 (GRCm39)	R199Q	probably damaging	Het
Faf2	A	G	13: 54,799,951 (GRCm39)	I253V	probably benign	Het
Flt1	T	A	5: 147,552,047 (GRCm39)	S715C	probably damaging	Het
Garin4	A	G	1: 190,895,258 (GRCm39)	S462P	probably benign	Het
Gm5150	G	T	3: 16,045,060 (GRCm39)	T55K	probably damaging	Het
Gria1	T	C	11: 57,076,759 (GRCm39)	F121L	possibly damaging	Het
Gucy2d	A	G	7: 98,103,271 (GRCm39)	Q505R	probably benign	Het
Gzma	A	T	13: 113,237,455 (GRCm39)	S11T	probably benign	Het
Hoxa6	G	A	6: 52,185,535 (GRCm39)	Q24*	probably null	Het
Kcnj14	T	A	7: 45,469,068 (GRCm39)	I146L	possibly damaging	Het
Kiss1r	G	A	10: 79,756,605 (GRCm39)	R149H	probably damaging	Het
Lama2	A	G	10: 26,929,022 (GRCm39)		probably null	Het
Lama5	C	A	2: 179,821,286 (GRCm39)	R3092L	probably damaging	Het
Lca5l	T	A	16: 95,977,218 (GRCm39)	N196I	probably damaging	Het
Lig4	A	G	8: 10,022,394 (GRCm39)	L462S	probably damaging	Het
Nbea	A	T	3: 55,912,289 (GRCm39)	V1166E	probably benign	Het
Nr2c1	T	A	10: 94,017,465 (GRCm39)	F401Y	probably benign	Het
Or10ak12	T	A	4: 118,666,195 (GRCm39)	R289*	probably null	Het
Or14c43	A	T	7: 86,114,825 (GRCm39)	M69L	probably benign	Het
Or4e5	A	G	14: 52,727,830 (GRCm39)	I197T	possibly damaging	Het
Or5an9	A	T	19: 12,187,286 (GRCm39)	M119L	probably damaging	Het
Otop3	A	C	11: 115,235,424 (GRCm39)	Y352S	possibly damaging	Het
Plekha6	T	G	1: 133,200,375 (GRCm39)	L318R	probably damaging	Het
Pm20d1	G	T	1: 131,743,825 (GRCm39)	V497F	possibly damaging	Het
Pnma2	G	A	14: 67,154,572 (GRCm39)	R332H	probably damaging	Het
Ppip5k1	C	A	2: 121,162,045 (GRCm39)	G1013C	probably damaging	Het
Prdm13	C	G	4: 21,679,659 (GRCm39)	R277P	unknown	Het
Prdm2	A	G	4: 142,858,674 (GRCm39)	S1539P	possibly damaging	Het
Ptger2	A	G	14: 45,227,235 (GRCm39)	T272A	probably damaging	Het
Qser1	T	C	2: 104,618,815 (GRCm39)	T576A	probably benign	Het
Rest	GGGGGCCTGCCCCTCCCACGGGGCCTGCCCCTCCCACGGGGCCTGCCCCTCCCACGGAGCCTGCCCCTCCCACGGGGC	GGGGGCCTGCCCCTCCCACGGGGCCTGCCCCTCCCACGGAGCCTGCCCCTCCCACGGGGC	5: 77,429,651 (GRCm39)		probably benign	Het
Sacm1l	G	T	9: 123,398,021 (GRCm39)	V238L	probably damaging	Het
Sanbr	T	C	11: 23,565,244 (GRCm39)	I248V	probably benign	Het
Sec16a	C	T	2: 26,313,645 (GRCm39)	G454D		Het
Sil1	A	G	18: 35,450,899 (GRCm39)	S259P	possibly damaging	Het
Sirpb1b	A	G	3: 15,639,964 (GRCm39)	L16P	probably damaging	Het
Slc22a20	A	T	19: 6,032,879 (GRCm39)	V262D	probably damaging	Het
Slc4a9	G	T	18: 36,666,676 (GRCm39)	R580L	probably benign	Het
Ssr3	A	G	3: 65,290,521 (GRCm39)	V128A	probably damaging	Het
Stpg2	G	T	3: 139,014,993 (GRCm39)	S386I	possibly damaging	Het
Taar8c	C	A	10: 23,977,500 (GRCm39)	C104F	probably damaging	Het
Tex2	T	C	11: 106,458,095 (GRCm39)	E445G	unknown	Het
Tmem253	A	C	14: 52,256,099 (GRCm39)	D126A	probably benign	Het
Tox4	A	G	14: 52,523,247 (GRCm39)	Q69R	possibly damaging	Het
Tpi1	T	A	6: 124,788,501 (GRCm39)	S254C	probably benign	Het
Trmt12	T	G	15: 58,745,594 (GRCm39)	S331A	probably benign	Het
Ttn	A	G	2: 76,543,350 (GRCm39)	V33212A	probably damaging	Het
Tubb4a	C	T	17: 57,387,734 (GRCm39)	E431K	unknown	Het
Ugt1a10	A	T	1: 87,983,509 (GRCm39)	E102D	probably benign	Het
Unc80	A	T	1: 66,589,000 (GRCm39)	E1055V	probably null	Het
Vav1	C	A	17: 57,618,895 (GRCm39)	S708R	probably damaging	Het
Vmn1r20	A	G	6: 57,409,246 (GRCm39)	M191V	probably damaging	Het
Vmn1r37	A	T	6: 66,709,054 (GRCm39)	T227S	probably damaging	Het
Vmn1r72	C	A	7: 11,412,951 (GRCm39)		probably benign	Het
Vps33b	G	A	7: 79,924,434 (GRCm39)		probably null	Het
Vrtn	T	A	12: 84,697,251 (GRCm39)	L667Q	probably benign	Het
Xirp1	G	A	9: 119,847,302 (GRCm39)	T527M	probably benign	Het
Ylpm1	T	A	12: 85,077,342 (GRCm39)	Y1356N	probably damaging	Het
Zfp980	A	T	4: 145,428,024 (GRCm39)	Y251F	possibly damaging	Het
Zmym2	A	T	14: 57,185,464 (GRCm39)	Y1032F	probably damaging	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
R0545:F10	UTSW	8	13,098,249 (GRCm39)	missense	probably damaging	1.00
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
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'- CCCTGGCATGGACAACTTAAG -3'
(R):5'- TGGGTAAAGGTCCAACTCTGGG -3'

Sequencing Primer
(F):5'- AGTTAGTTCTCTCAGGAAACGCC -3'
(R):5'- AGCCTGGAACCCTGTAGCAG -3'

Posted On

2022-02-07