Mutagenetix > Incidental Mutation

Incidental Mutation 'R4700:F10'

355921

Institutional Source

Beutler Lab

Gene Symbol

F10

Ensembl Gene

ENSMUSG00000031444

Gene Name

coagulation factor X

Synonyms

AI194738, Cf10, fX

MMRRC Submission

041948-MU

Accession Numbers

Is this an essential gene?

Essential (E-score: 1.000) question?

Stock #

R4700 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

13037308-13056676 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

G to T at 13039621 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Valine to Phenylalanine at position 67 (V67F)

Ref Sequence

ENSEMBL: ENSMUSP00000121830 (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

possibly damaging
Transcript: ENSMUST00000033821
AA Change: V79F

PolyPhen 2 Score 0.708 (Sensitivity: 0.86; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000033821
Gene: ENSMUSG00000031444
AA Change: V79F

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: V67F

PolyPhen 2 Score 0.402 (Sensitivity: 0.89; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000068389
Gene: ENSMUSG00000031444
AA Change: V67F

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: V67F

PolyPhen 2 Score 0.319 (Sensitivity: 0.90; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000116984
Gene: ENSMUSG00000031444
AA Change: V67F

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

possibly damaging
Transcript: ENSMUST00000128418
AA Change: V67F

PolyPhen 2 Score 0.931 (Sensitivity: 0.81; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000121830
Gene: ENSMUSG00000031444
AA Change: V67F

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

possibly damaging
Transcript: ENSMUST00000152034
AA Change: V67F

PolyPhen 2 Score 0.860 (Sensitivity: 0.83; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000117312
Gene: ENSMUSG00000031444
AA Change: V67F

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

0.1795

Coding Region Coverage

1x: 99.1%
3x: 98.4%
10x: 96.8%
20x: 94.0%

Validation Efficiency

97% (127/131)

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: 112 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A530084C06Rik	A	G	13: 31,558,812		probably benign	Het
Abca13	A	G	11: 9,292,306	T1390A	possibly damaging	Het
Abca14	T	A	7: 120,312,705		probably null	Het
Abca8a	A	C	11: 110,070,482	V538G	probably damaging	Het
Acy1	C	T	9: 106,433,583	G329R	probably benign	Het
Adamts17	T	C	7: 67,041,888	C607R	probably damaging	Het
Adamts20	A	T	15: 94,394,622	C202*	probably null	Het
Adcy5	A	G	16: 35,279,216	N712S	possibly damaging	Het
Ahnak	A	G	19: 9,004,681	K1110E	probably benign	Het
Anks6	T	A	4: 47,033,127	H578L	possibly damaging	Het
Appl1	C	A	14: 26,925,971	L626F	probably benign	Het
Arl1	A	G	10: 88,730,637		probably benign	Het
Atf4	T	A	15: 80,257,417	I336K	probably damaging	Het
Atp7b	A	T	8: 22,000,121	S1044T	probably benign	Het
B020031M17Rik	T	C	13: 119,949,842	Y76C	probably benign	Het
Carm1	A	G	9: 21,587,184	N466S	probably benign	Het
Cbl	A	G	9: 44,173,380	S153P	probably damaging	Het
Ccdc159	A	G	9: 21,927,731		probably null	Het
Cd109	CATTTATTTATTTATTTATTTATTTATTTATTTAT	CATTTATTTATTTATTTATTTATTTATTTATTTATTTAT	9: 78,712,500		probably benign	Het
Cdc7	T	C	5: 106,973,841	F207L	probably benign	Het
Celsr2	T	C	3: 108,397,231	R2271G	probably benign	Het
Cep162	T	C	9: 87,206,862	Q989R	probably damaging	Het
Cep89	A	G	7: 35,438,437	T749A	probably benign	Het
Clcn5	T	C	X: 7,166,352		probably null	Het
Clu	A	T	14: 65,979,864	Y382F	probably benign	Het
Cnih4	A	G	1: 181,166,243		probably benign	Het
Crb1	A	G	1: 139,198,771	L1340P	probably damaging	Het
D730048I06Rik	A	T	9: 35,789,725	C22S	probably damaging	Het
Ddx4	T	C	13: 112,613,735	T421A	probably damaging	Het
Dennd5a	T	C	7: 109,921,198	E484G	probably benign	Het
Dsg4	G	T	18: 20,456,908	V372L	possibly damaging	Het
Dyrk2	T	C	10: 118,868,286	D21G	probably benign	Het
E2f1	C	G	2: 154,564,022	G144R	probably damaging	Het
Epb41l4a	A	T	18: 33,802,507		probably null	Het
Fat3	A	G	9: 16,031,173	I1301T	probably damaging	Het
Filip1l	A	G	16: 57,570,695	T549A	probably benign	Het
Flt4	C	A	11: 49,626,444		probably benign	Het
Fndc1	G	A	17: 7,771,480	T1128I	unknown	Het
Fos	T	C	12: 85,476,162	S283P	probably benign	Het
Fryl	T	C	5: 73,065,538	Y1900C	possibly damaging	Het
Fsip2	C	A	2: 82,987,029	Q4369K	probably benign	Het
Gad2	A	T	2: 22,673,970	H395L	probably damaging	Het
Grm2	T	A	9: 106,653,931	I120F	probably benign	Het
Hjurp	GT	GTT	1: 88,266,524		probably null	Het
Igsf10	A	T	3: 59,320,330	I1974N	probably damaging	Het
Il23r	T	C	6: 67,473,850	N215S	probably damaging	Het
Jph1	T	A	1: 17,091,704	M245L	possibly damaging	Het
Loxl4	G	A	19: 42,607,613	H147Y	probably benign	Het
Lsg1	A	G	16: 30,565,449	I521T	probably damaging	Het
Ltc4s	C	T	11: 50,237,081	G83R	probably damaging	Het
Map2	A	G	1: 66,410,637	E173G	probably damaging	Het
Med29	T	A	7: 28,386,927	D152V	possibly damaging	Het
Megf8	A	G	7: 25,363,515	D2432G	probably damaging	Het
Mrpl38	G	A	11: 116,135,152		probably benign	Het
Myh7	A	G	14: 54,988,321	I521T	possibly damaging	Het
Mylk	G	T	16: 34,922,435	V1106L	probably benign	Het
Myo15b	A	T	11: 115,861,935	D753V	possibly damaging	Het
Myo1g	T	C	11: 6,516,785		probably null	Het
Myrfl	A	G	10: 116,777,342		probably null	Het
Naip5	A	G	13: 100,223,414	V438A	possibly damaging	Het
Nav3	A	G	10: 109,764,935	V1277A	probably benign	Het
Nek10	T	A	14: 14,842,841	V182E	possibly damaging	Het
Ngly1	T	C	14: 16,281,809	V355A	probably benign	Het
Nol6	T	C	4: 41,118,944	E683G	possibly damaging	Het
Obsl1	A	T	1: 75,503,441	V487E	probably damaging	Het
Oc90	T	A	15: 65,881,505	R322W	possibly damaging	Het
Olfr1313	A	G	2: 112,071,752	V277A	possibly damaging	Het
Olfr357	C	A	2: 36,997,503	A231D	probably benign	Het
Olfr677	A	T	7: 105,056,276	H10L	possibly damaging	Het
Olfr878	A	G	9: 37,918,921	E93G	possibly damaging	Het
Osbp2	T	C	11: 3,712,160	H231R	probably damaging	Het
Pdzph1	T	C	17: 58,974,546	H247R	probably damaging	Het
Pidd1	T	C	7: 141,442,249	N209S	probably damaging	Het
Pknox1	C	T	17: 31,603,312	A351V	probably damaging	Het
Plxnd1	C	A	6: 115,958,615	V1737F	probably damaging	Het
Prkdc	A	T	16: 15,702,112	K1138M	probably damaging	Het
Rad54l2	T	C	9: 106,754,025	D21G	possibly damaging	Het
Recql4	C	T	15: 76,708,585	C302Y	probably damaging	Het
Scgb2b6	T	C	7: 31,619,483		noncoding transcript	Het
Sdc1	A	G	12: 8,790,541	E106G	possibly damaging	Het
Slc10a5	C	A	3: 10,335,299	Q100H	probably damaging	Het
Slc10a5	T	G	3: 10,335,300	Q100P	probably damaging	Het
Slc5a9	A	T	4: 111,890,937	L226Q	possibly damaging	Het
Slfn1	T	C	11: 83,121,649	V197A	probably benign	Het
Spire1	T	C	18: 67,512,865	M244V	probably benign	Het
St3gal3	C	T	4: 117,960,035	V141I	probably benign	Het
St6galnac4	G	T	2: 32,587,160		probably benign	Het
Svep1	T	C	4: 58,097,323	K1407E	possibly damaging	Het
Tbc1d32	A	G	10: 56,224,649	C78R	probably damaging	Het
Tln2	A	G	9: 67,346,527	V754A	probably benign	Het
Tmeff1	A	T	4: 48,636,869	Y189F	possibly damaging	Het
Tmem131l	C	T	3: 83,899,212	A1433T	probably benign	Het
Tnfrsf8	T	C	4: 145,303,122	Y36C	probably damaging	Het
Trp53i11	G	T	2: 93,199,900	R184L	probably damaging	Het
Trpv1	A	T	11: 73,251,284	M214L	possibly damaging	Het
Tsnax	T	A	8: 125,028,794	S132T	probably benign	Het
Ttc28	T	C	5: 111,277,043	L1547P	probably damaging	Het
Ttc3	A	G	16: 94,439,241		probably null	Het
Tubal3	T	A	13: 3,933,514	D431E	probably damaging	Het
Ugt2b36	A	T	5: 87,092,442		probably null	Het
Vmn1r23	A	T	6: 57,926,205	I196K	probably benign	Het
Vmn1r55	A	C	7: 5,146,587	L279R	probably damaging	Het
Vmn1r55	G	T	7: 5,146,588	L279M	probably damaging	Het
Vmn2r89	G	A	14: 51,457,485	G474E	probably damaging	Het
Vps26b	T	C	9: 27,015,215	K163E	probably damaging	Het
Zfp142	A	G	1: 74,570,272	F1352L	probably damaging	Het
Zfp422	C	T	6: 116,626,883	E52K	possibly damaging	Het
Zfp423	T	A	8: 87,781,710		probably null	Het
Zfp493	T	C	13: 67,786,617	F230L	probably damaging	Het
Zfp760	T	C	17: 21,722,407	C188R	probably benign	Het
Zfyve28	G	T	5: 34,217,845	T275K	probably damaging	Het
Znhit3	T	C	11: 84,916,329	N5D	probably benign	Het

Other mutations in F10

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01104:F10	APN	8	13055686	missense	probably damaging	1.00
IGL01296:F10	APN	8	13055383	missense	possibly damaging	0.49
IGL02010:F10	APN	8	13048292	missense	probably damaging	0.97
IGL02707:F10	APN	8	13048252	missense	probably damaging	1.00
IGL02716:F10	APN	8	13048177	nonsense	probably null
IGL03354:F10	APN	8	13045089	missense	probably benign	0.00
ju	UTSW	8	13055698	missense	probably damaging	1.00
PIT4494001:F10	UTSW	8	13053423	missense	probably damaging	1.00
R0243:F10	UTSW	8	13048196	missense	probably damaging	1.00
R0321:F10	UTSW	8	13053413	missense	possibly damaging	0.95
R0416:F10	UTSW	8	13055448	missense	probably damaging	1.00
R0421:F10	UTSW	8	13045097	missense	probably benign	0.05
R0545:F10	UTSW	8	13048249	missense	probably damaging	1.00
R1630:F10	UTSW	8	13055551	missense	probably benign	0.00
R1732:F10	UTSW	8	13050764	missense	probably damaging	1.00
R1956:F10	UTSW	8	13055422	missense	probably damaging	1.00
R4130:F10	UTSW	8	13055584	missense	possibly damaging	0.94
R4989:F10	UTSW	8	13055698	missense	probably damaging	1.00
R5133:F10	UTSW	8	13055698	missense	probably damaging	1.00
R5134:F10	UTSW	8	13055698	missense	probably damaging	1.00
R6826:F10	UTSW	8	13046165	splice site	probably null
R7601:F10	UTSW	8	13050781	missense	probably benign	0.26
R8164:F10	UTSW	8	13050781	missense	probably benign	0.26
R8936:F10	UTSW	8	13045086	missense	probably damaging	1.00
R9165:F10	UTSW	8	13039564	missense	probably benign	0.00
R9260:F10	UTSW	8	13055638	missense	probably damaging	1.00
R9294:F10	UTSW	8	13048177	nonsense	probably null
X0024:F10	UTSW	8	13055859	missense	probably benign
Z1177:F10	UTSW	8	13037845	missense	probably benign	0.00

Predicted Primers

PCR Primer
(F):5'- AAAGGCCTGTGTGAAGACTG -3'
(R):5'- AAGCCAGGATGCTATGCCTG -3'

Sequencing Primer
(F):5'- CTGGGTGAGAGGGCCTTTCAC -3'
(R):5'- CAGGATGCTATGCCTGGTCATC -3'

Posted On

2015-10-21