Mutagenetix > Incidental Mutation

Incidental Mutation 'R1915:F5'

214740

Institutional Source

Beutler Lab

Gene Symbol

Ensembl Gene

ENSMUSG00000026579

Gene Name

coagulation factor V

Synonyms

Cf-5, Cf5

MMRRC Submission

039933-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R1915 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

163979407-164047846 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to A at 164010486 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Serine at position 406 (R406S)

Ref Sequence

ENSEMBL: ENSMUSP00000083204 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000086040]

AlphaFold

O88783

Predicted Effect

probably damaging
Transcript: ENSMUST00000086040
AA Change: R406S

PolyPhen 2 Score 0.969 (Sensitivity: 0.77; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000083204
Gene: ENSMUSG00000026579
AA Change: R406S

Domain	Start	End	E-Value	Type
low complexity region	2	14	N/A	INTRINSIC
Pfam:Cu-oxidase_3	67	196	4.4e-10	PFAM
low complexity region	282	300	N/A	INTRINSIC
Pfam:Cu-oxidase_3	397	527	1.5e-7	PFAM
low complexity region	1013	1019	N/A	INTRINSIC
low complexity region	1045	1058	N/A	INTRINSIC
low complexity region	1156	1173	N/A	INTRINSIC
low complexity region	1352	1366	N/A	INTRINSIC
low complexity region	1368	1382	N/A	INTRINSIC
low complexity region	1440	1464	N/A	INTRINSIC
Pfam:Cu-oxidase_3	1600	1714	9.1e-8	PFAM
FA58C	1865	2020	8.03e-36	SMART
FA58C	2024	2180	1.96e-30	SMART

Meta Mutation Damage Score

0.6467

Coding Region Coverage

1x: 97.5%
3x: 97.0%
10x: 95.6%
20x: 93.4%

Validation Efficiency

100% (85/85)

MGI Phenotype

FUNCTION: This gene encodes a glycoprotein coagulation factor that plays a critical role in the process of blood coagulation and hemostasis. The encoded protein is activated by thrombin, to generate a heterodimer containing heavy and light chains held together by calcium ions. About half of the mice lacking the encoded protein die at an embryonic stage possible due to abnormal yolk-sac vasculature while the remaining animals succumbed to massive hemorrhage immediately after birth. A point mutation in this gene has been shown to cause disseminated intravascular thrombosis in the perinatal period, resulting in frequent deaths of newborn mice. [provided by RefSeq, Apr 2015]
PHENOTYPE: Half of mice homozygous for a null allele die at E9-E10 with defects in yolk-sac vasculature and somite formation; the remaining half develop to term but die of massive hemorrhage within hours of birth. Mice homozygous for a knock-in (F5 Leiden) allele develop strain-specific perinatal thrombosis. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 83 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca6	T	C	11: 110,103,036 (GRCm39)	R852G	probably benign	Het
Adam2	C	A	14: 66,275,006 (GRCm39)	V576F	possibly damaging	Het
Afmid	T	C	11: 117,726,625 (GRCm39)	F250L	possibly damaging	Het
Apc2	A	T	10: 80,151,701 (GRCm39)	I2252L	probably benign	Het
Bcar1	A	G	8: 112,442,030 (GRCm39)	V270A	probably damaging	Het
Btnl7-ps	T	A	17: 34,760,619 (GRCm39)		noncoding transcript	Het
Cdkn2aip	T	C	8: 48,164,961 (GRCm39)	T251A	probably benign	Het
Cdx1	A	G	18: 61,152,970 (GRCm39)	V212A	probably benign	Het
Cep95	C	T	11: 106,705,464 (GRCm39)	T483I	probably damaging	Het
Cfap100	T	C	6: 90,389,329 (GRCm39)		probably benign	Het
Cfap54	A	G	10: 92,720,564 (GRCm39)	V2630A	unknown	Het
Chia1	T	A	3: 106,035,875 (GRCm39)	N238K	probably benign	Het
Cldn23	T	A	8: 36,293,099 (GRCm39)	I130F	possibly damaging	Het
Cntrl	T	C	2: 35,052,873 (GRCm39)	M1126T	probably benign	Het
Col28a1	A	G	6: 8,176,333 (GRCm39)	F8S	probably benign	Het
Cpeb3	C	T	19: 37,031,665 (GRCm39)	R579Q	probably damaging	Het
Creld2	G	A	15: 88,704,834 (GRCm39)	W103*	probably null	Het
Dbh	A	G	2: 27,058,234 (GRCm39)	D134G	probably damaging	Het
Dcbld1	G	T	10: 52,193,131 (GRCm39)	C292F	probably damaging	Het
Dlgap5	T	C	14: 47,645,230 (GRCm39)	K304E	probably benign	Het
Dnajc2	A	G	5: 21,986,317 (GRCm39)		probably null	Het
Eps8l2	G	A	7: 140,941,765 (GRCm39)	V650M	probably damaging	Het
Erlin1	T	C	19: 44,047,504 (GRCm39)	Y139C	probably damaging	Het
Exoc3	A	G	13: 74,321,413 (GRCm39)		probably null	Het
Fahd1	A	T	17: 25,068,622 (GRCm39)	W152R	possibly damaging	Het
Farp2	T	A	1: 93,456,424 (GRCm39)	S36T	probably benign	Het
Foxs1	A	G	2: 152,774,760 (GRCm39)	C98R	probably damaging	Het
Gal3st4	T	A	5: 138,263,672 (GRCm39)	K442N	probably benign	Het
Gm10644	G	A	8: 84,660,479 (GRCm39)		probably benign	Het
Gm8674	A	T	13: 50,054,889 (GRCm39)		noncoding transcript	Het
Gpr88	G	T	3: 116,046,073 (GRCm39)	S79R	possibly damaging	Het
Heatr9	T	G	11: 83,409,035 (GRCm39)	I171L	possibly damaging	Het
Hectd4	A	G	5: 121,460,357 (GRCm39)	T2209A	probably benign	Het
Hsh2d	A	G	8: 72,947,365 (GRCm39)	T21A	probably damaging	Het
Irf4	A	T	13: 30,945,445 (GRCm39)	Q397L	probably benign	Het
Itgae	T	A	11: 73,009,469 (GRCm39)		probably benign	Het
Jrkl	A	T	9: 13,245,609 (GRCm39)	D17E	possibly damaging	Het
Kcna4	T	C	2: 107,127,123 (GRCm39)	V619A	probably benign	Het
Kcnh6	T	A	11: 105,908,270 (GRCm39)	Y295*	probably null	Het
Kif1b	G	A	4: 149,351,673 (GRCm39)	T263I	probably damaging	Het
Large2	G	T	2: 92,196,170 (GRCm39)		probably benign	Het
Lcp1	T	A	14: 75,436,737 (GRCm39)	Y28N	possibly damaging	Het
Man1c1	G	C	4: 134,430,749 (GRCm39)	P11R	probably damaging	Het
Mccc2	T	C	13: 100,085,038 (GRCm39)		probably null	Het
Mlh3	T	C	12: 85,308,442 (GRCm39)	Y1115C	probably benign	Het
Mlst8	C	T	17: 24,696,264 (GRCm39)	W155*	probably null	Het
Myh10	T	C	11: 68,681,034 (GRCm39)	L1025P	probably damaging	Het
Myof	T	A	19: 37,966,141 (GRCm39)	N393I	probably damaging	Het
Nalcn	C	T	14: 123,540,181 (GRCm39)	V1140I	probably benign	Het
Ncald	C	T	15: 37,397,324 (GRCm39)	A119T	probably benign	Het
Nipbl	T	C	15: 8,373,114 (GRCm39)	E1044G	possibly damaging	Het
Nup58	T	C	14: 60,475,980 (GRCm39)	K279R	probably benign	Het
Oas1a	A	T	5: 121,043,876 (GRCm39)	N85K	possibly damaging	Het
Or11g1	C	T	14: 50,651,798 (GRCm39)	P266S	probably damaging	Het
Or8b12i	T	C	9: 20,082,324 (GRCm39)	Y181C	probably benign	Het
Or8k30	A	G	2: 86,339,343 (GRCm39)	D180G	probably damaging	Het
Pou2f2	C	T	7: 24,799,581 (GRCm39)	A92T	possibly damaging	Het
Ppp1r16a	T	C	15: 76,577,268 (GRCm39)	L212P	probably damaging	Het
Pram1	A	T	17: 33,860,131 (GRCm39)	I233F	probably benign	Het
Ptbp3	A	T	4: 59,517,635 (GRCm39)	L84Q	probably damaging	Het
Ptgr2	A	T	12: 84,349,096 (GRCm39)	Q145L	probably benign	Het
Ptpn23	A	T	9: 110,215,575 (GRCm39)	D1396E	probably damaging	Het
Pudp	T	C	18: 50,701,278 (GRCm39)	N152D	probably benign	Het
Rbm20	T	A	19: 53,852,518 (GRCm39)	L1166Q	probably damaging	Het
Rictor	T	G	15: 6,789,053 (GRCm39)	I223R	probably damaging	Het
Ripor1	A	T	8: 106,343,518 (GRCm39)	E270D	probably damaging	Het
Rorc	T	C	3: 94,298,480 (GRCm39)	C322R	probably damaging	Het
Rpgrip1l	T	C	8: 91,959,552 (GRCm39)	D1116G	probably benign	Het
Rsf1	GCG	GCGACGGCGACG	7: 97,229,114 (GRCm39)		probably benign	Het
Sptan1	C	G	2: 29,901,048 (GRCm39)	Q1425E	probably benign	Het
Srd5a3	G	A	5: 76,295,552 (GRCm39)	V81I	probably benign	Het
Stk36	T	A	1: 74,673,346 (GRCm39)	S1080T	probably benign	Het
Sugp2	T	A	8: 70,706,310 (GRCm39)	I790K	probably damaging	Het
Syde2	T	G	3: 145,720,071 (GRCm39)	Y764*	probably null	Het
Tmem130	A	G	5: 144,674,666 (GRCm39)	F353S	probably damaging	Het
Tmem131	T	A	1: 36,835,347 (GRCm39)	K1591N	probably damaging	Het
Urb2	C	A	8: 124,756,537 (GRCm39)	T748K	possibly damaging	Het
Uri1	A	T	7: 37,661,103 (GRCm39)	I480K	probably damaging	Het
Zcchc3	A	C	2: 152,255,601 (GRCm39)	V366G	probably benign	Het
Zfp292	G	A	4: 34,805,100 (GRCm39)	S2648F	possibly damaging	Het
Zfp54	T	C	17: 21,654,414 (GRCm39)	Y303H	probably benign	Het
Zfp729b	A	G	13: 67,741,339 (GRCm39)	F319L	probably damaging	Het
Zfp934	G	A	13: 62,665,769 (GRCm39)	H291Y	probably damaging	Het

Other mutations in F5

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00840:F5	APN	1	164,007,093 (GRCm39)	missense	probably benign	0.15
IGL00843:F5	APN	1	164,039,360 (GRCm39)	missense	probably benign	0.00
IGL00904:F5	APN	1	164,021,578 (GRCm39)	missense	probably benign
IGL00913:F5	APN	1	164,032,465 (GRCm39)	missense	probably damaging	1.00
IGL01099:F5	APN	1	164,021,903 (GRCm39)	missense	probably damaging	0.99
IGL01134:F5	APN	1	164,019,548 (GRCm39)	missense	possibly damaging	0.87
IGL01313:F5	APN	1	164,021,181 (GRCm39)	missense	probably benign	0.01
IGL01635:F5	APN	1	164,035,427 (GRCm39)	missense	probably benign	0.00
IGL01697:F5	APN	1	164,021,621 (GRCm39)	missense	probably benign	0.04
IGL01768:F5	APN	1	164,003,914 (GRCm39)	missense	probably benign	0.22
IGL01795:F5	APN	1	164,021,959 (GRCm39)	missense	probably benign	0.00
IGL01835:F5	APN	1	164,021,937 (GRCm39)	missense	probably benign	0.12
IGL01843:F5	APN	1	164,039,395 (GRCm39)	missense	probably benign	0.05
IGL01989:F5	APN	1	164,003,876 (GRCm39)	missense	probably benign	0.39
IGL02036:F5	APN	1	164,010,571 (GRCm39)	splice site	probably benign
IGL02065:F5	APN	1	164,017,695 (GRCm39)	missense	probably damaging	1.00
IGL02077:F5	APN	1	164,026,435 (GRCm39)	missense	probably damaging	1.00
IGL02139:F5	APN	1	164,020,243 (GRCm39)	missense	possibly damaging	0.89
IGL02210:F5	APN	1	164,017,710 (GRCm39)	missense	probably benign	0.00
IGL02415:F5	APN	1	164,019,498 (GRCm39)	missense	probably damaging	1.00
IGL02440:F5	APN	1	164,034,635 (GRCm39)	missense	possibly damaging	0.79
IGL02471:F5	APN	1	164,001,860 (GRCm39)	missense	probably damaging	1.00
IGL02535:F5	APN	1	164,026,302 (GRCm39)	missense	probably damaging	0.98
IGL02537:F5	APN	1	164,020,686 (GRCm39)	missense	probably benign	0.26
IGL02628:F5	APN	1	164,021,644 (GRCm39)	missense	probably damaging	0.99
IGL02638:F5	APN	1	164,012,177 (GRCm39)	critical splice donor site	probably null
IGL02824:F5	APN	1	164,021,916 (GRCm39)	missense	probably benign	0.00
IGL02977:F5	APN	1	164,021,590 (GRCm39)	missense	probably damaging	1.00
IGL03028:F5	APN	1	164,020,569 (GRCm39)	nonsense	probably null
IGL03064:F5	APN	1	164,023,163 (GRCm39)	missense	probably benign	0.04
IGL03127:F5	APN	1	164,021,107 (GRCm39)	missense	probably benign	0.45
IGL03131:F5	APN	1	163,989,388 (GRCm39)	missense	possibly damaging	0.62
IGL03348:F5	APN	1	164,021,721 (GRCm39)	missense	possibly damaging	0.49
IGL03387:F5	APN	1	164,020,801 (GRCm39)	missense	probably damaging	1.00
James_dean	UTSW	1	164,032,389 (GRCm39)	missense	probably benign	0.43
BB002:F5	UTSW	1	164,003,935 (GRCm39)	critical splice donor site	probably null
BB012:F5	UTSW	1	164,003,935 (GRCm39)	critical splice donor site	probably null
R0002:F5	UTSW	1	164,029,200 (GRCm39)	missense	probably damaging	1.00
R0095:F5	UTSW	1	164,019,537 (GRCm39)	nonsense	probably null
R0116:F5	UTSW	1	164,012,483 (GRCm39)	missense	probably benign	0.01
R0359:F5	UTSW	1	164,007,018 (GRCm39)	missense	probably damaging	1.00
R0426:F5	UTSW	1	164,010,409 (GRCm39)	missense	probably damaging	0.99
R0452:F5	UTSW	1	164,012,676 (GRCm39)	missense	probably damaging	0.99
R0457:F5	UTSW	1	164,021,769 (GRCm39)	missense	probably benign	0.00
R0520:F5	UTSW	1	164,037,156 (GRCm39)	missense	probably benign	0.15
R0522:F5	UTSW	1	164,039,332 (GRCm39)	missense	probably damaging	1.00
R0554:F5	UTSW	1	164,007,018 (GRCm39)	missense	probably damaging	1.00
R0575:F5	UTSW	1	164,003,813 (GRCm39)	missense	probably damaging	1.00
R0734:F5	UTSW	1	164,026,486 (GRCm39)	missense	probably damaging	1.00
R0739:F5	UTSW	1	164,026,486 (GRCm39)	missense	probably damaging	1.00
R1062:F5	UTSW	1	164,026,486 (GRCm39)	missense	probably damaging	1.00
R1063:F5	UTSW	1	164,026,486 (GRCm39)	missense	probably damaging	1.00
R1149:F5	UTSW	1	164,026,486 (GRCm39)	missense	probably damaging	1.00
R1149:F5	UTSW	1	164,026,486 (GRCm39)	missense	probably damaging	1.00
R1150:F5	UTSW	1	164,026,486 (GRCm39)	missense	probably damaging	1.00
R1151:F5	UTSW	1	164,026,486 (GRCm39)	missense	probably damaging	1.00
R1152:F5	UTSW	1	164,026,486 (GRCm39)	missense	probably damaging	1.00
R1221:F5	UTSW	1	163,989,368 (GRCm39)	missense	probably damaging	1.00
R1284:F5	UTSW	1	164,026,486 (GRCm39)	missense	probably damaging	1.00
R1286:F5	UTSW	1	164,026,486 (GRCm39)	missense	probably damaging	1.00
R1358:F5	UTSW	1	164,026,486 (GRCm39)	missense	probably damaging	1.00
R1360:F5	UTSW	1	164,026,486 (GRCm39)	missense	probably damaging	1.00
R1362:F5	UTSW	1	164,026,486 (GRCm39)	missense	probably damaging	1.00
R1383:F5	UTSW	1	164,026,486 (GRCm39)	missense	probably damaging	1.00
R1465:F5	UTSW	1	164,026,402 (GRCm39)	missense	probably benign	0.02
R1465:F5	UTSW	1	164,026,402 (GRCm39)	missense	probably benign	0.02
R1545:F5	UTSW	1	164,036,529 (GRCm39)	nonsense	probably null
R1561:F5	UTSW	1	164,014,472 (GRCm39)	nonsense	probably null
R1623:F5	UTSW	1	164,023,191 (GRCm39)	missense	probably damaging	1.00
R1662:F5	UTSW	1	164,035,457 (GRCm39)	missense	probably damaging	1.00
R1673:F5	UTSW	1	164,007,089 (GRCm39)	missense	probably damaging	1.00
R1689:F5	UTSW	1	164,026,486 (GRCm39)	missense	probably damaging	1.00
R1705:F5	UTSW	1	164,045,059 (GRCm39)	missense	possibly damaging	0.92
R1732:F5	UTSW	1	164,001,719 (GRCm39)	missense	probably damaging	1.00
R1763:F5	UTSW	1	164,020,104 (GRCm39)	missense	probably benign	0.04
R1774:F5	UTSW	1	164,020,104 (GRCm39)	missense	probably benign	0.04
R1799:F5	UTSW	1	164,021,100 (GRCm39)	missense	possibly damaging	0.58
R1800:F5	UTSW	1	164,010,403 (GRCm39)	missense	probably damaging	1.00
R1842:F5	UTSW	1	164,012,129 (GRCm39)	missense	probably damaging	0.99
R1926:F5	UTSW	1	164,007,077 (GRCm39)	missense	probably damaging	1.00
R2025:F5	UTSW	1	164,037,044 (GRCm39)	missense	probably benign	0.05
R2198:F5	UTSW	1	164,034,603 (GRCm39)	missense	probably damaging	1.00
R2258:F5	UTSW	1	164,019,750 (GRCm39)	missense	probably damaging	1.00
R2264:F5	UTSW	1	164,021,971 (GRCm39)	missense	probably benign	0.32
R2281:F5	UTSW	1	164,023,289 (GRCm39)	missense	possibly damaging	0.80
R2407:F5	UTSW	1	164,039,441 (GRCm39)	missense	probably damaging	1.00
R2445:F5	UTSW	1	164,017,795 (GRCm39)	missense	probably damaging	1.00
R2860:F5	UTSW	1	164,012,533 (GRCm39)	missense	probably damaging	1.00
R2861:F5	UTSW	1	164,012,533 (GRCm39)	missense	probably damaging	1.00
R2862:F5	UTSW	1	164,012,533 (GRCm39)	missense	probably damaging	1.00
R2899:F5	UTSW	1	164,014,469 (GRCm39)	missense	possibly damaging	0.88
R2910:F5	UTSW	1	164,032,389 (GRCm39)	missense	probably benign	0.43
R2912:F5	UTSW	1	164,021,488 (GRCm39)	missense	probably damaging	0.98
R2996:F5	UTSW	1	164,010,486 (GRCm39)	missense	probably damaging	0.97
R3745:F5	UTSW	1	164,014,348 (GRCm39)	missense	possibly damaging	0.79
R3901:F5	UTSW	1	164,003,798 (GRCm39)	missense	probably benign	0.08
R3902:F5	UTSW	1	164,003,798 (GRCm39)	missense	probably benign	0.08
R4365:F5	UTSW	1	164,012,519 (GRCm39)	missense	probably damaging	0.98
R4448:F5	UTSW	1	164,026,468 (GRCm39)	missense	possibly damaging	0.52
R4490:F5	UTSW	1	164,044,964 (GRCm39)	missense	probably benign	0.40
R4514:F5	UTSW	1	163,979,566 (GRCm39)	unclassified	probably benign
R4598:F5	UTSW	1	164,032,366 (GRCm39)	missense	probably benign	0.05
R4608:F5	UTSW	1	164,036,598 (GRCm39)	missense	probably benign	0.12
R4661:F5	UTSW	1	164,012,489 (GRCm39)	missense	probably damaging	1.00
R4667:F5	UTSW	1	164,001,755 (GRCm39)	missense	probably benign	0.00
R4689:F5	UTSW	1	163,979,542 (GRCm39)	unclassified	probably benign
R4716:F5	UTSW	1	164,021,488 (GRCm39)	missense	probably damaging	0.98
R4732:F5	UTSW	1	164,009,226 (GRCm39)	missense	probably damaging	1.00
R4733:F5	UTSW	1	164,009,226 (GRCm39)	missense	probably damaging	1.00
R4854:F5	UTSW	1	164,019,715 (GRCm39)	missense	probably damaging	1.00
R4908:F5	UTSW	1	164,039,389 (GRCm39)	missense	probably damaging	1.00
R4971:F5	UTSW	1	164,021,755 (GRCm39)	missense	probably benign
R5001:F5	UTSW	1	164,023,139 (GRCm39)	missense	probably benign	0.00
R5042:F5	UTSW	1	164,047,020 (GRCm39)	missense	probably damaging	1.00
R5056:F5	UTSW	1	164,019,601 (GRCm39)	missense	possibly damaging	0.60
R5061:F5	UTSW	1	164,021,749 (GRCm39)	missense	probably benign	0.00
R5143:F5	UTSW	1	164,039,397 (GRCm39)	missense	probably damaging	0.98
R5622:F5	UTSW	1	164,020,134 (GRCm39)	missense	probably benign	0.09
R5626:F5	UTSW	1	164,036,604 (GRCm39)	missense	probably damaging	0.98
R5658:F5	UTSW	1	164,019,907 (GRCm39)	missense	probably damaging	0.96
R5702:F5	UTSW	1	164,022,116 (GRCm39)	nonsense	probably null
R5795:F5	UTSW	1	163,979,578 (GRCm39)	missense	probably benign	0.09
R5884:F5	UTSW	1	164,023,215 (GRCm39)	missense	probably benign	0.01
R6036:F5	UTSW	1	164,012,565 (GRCm39)	missense	probably damaging	0.99
R6036:F5	UTSW	1	164,012,565 (GRCm39)	missense	probably damaging	0.99
R6151:F5	UTSW	1	164,017,756 (GRCm39)	missense	probably damaging	1.00
R6151:F5	UTSW	1	164,009,204 (GRCm39)	missense	probably damaging	1.00
R6345:F5	UTSW	1	164,019,520 (GRCm39)	missense	probably benign	0.13
R6391:F5	UTSW	1	164,021,062 (GRCm39)	missense	probably damaging	0.99
R6542:F5	UTSW	1	164,022,037 (GRCm39)	missense	probably benign	0.32
R6620:F5	UTSW	1	164,014,375 (GRCm39)	missense	probably damaging	1.00
R6750:F5	UTSW	1	164,021,076 (GRCm39)	missense	possibly damaging	0.58
R6754:F5	UTSW	1	164,021,332 (GRCm39)	missense	probably damaging	1.00
R6774:F5	UTSW	1	164,014,447 (GRCm39)	missense	probably damaging	1.00
R6802:F5	UTSW	1	164,006,925 (GRCm39)	missense	probably damaging	0.98
R6810:F5	UTSW	1	164,014,471 (GRCm39)	missense	probably damaging	1.00
R6983:F5	UTSW	1	164,021,698 (GRCm39)	missense	probably damaging	1.00
R7000:F5	UTSW	1	164,007,075 (GRCm39)	missense	probably damaging	1.00
R7151:F5	UTSW	1	164,029,230 (GRCm39)	missense	probably damaging	1.00
R7193:F5	UTSW	1	164,046,966 (GRCm39)	missense	probably damaging	1.00
R7230:F5	UTSW	1	164,012,522 (GRCm39)	missense	probably benign
R7324:F5	UTSW	1	164,021,150 (GRCm39)	small deletion	probably benign
R7350:F5	UTSW	1	164,020,277 (GRCm39)	missense	probably benign	0.08
R7466:F5	UTSW	1	164,020,897 (GRCm39)	missense	possibly damaging	0.61
R7503:F5	UTSW	1	164,019,779 (GRCm39)	missense	probably damaging	1.00
R7626:F5	UTSW	1	164,014,481 (GRCm39)	missense	possibly damaging	0.95
R7742:F5	UTSW	1	164,035,453 (GRCm39)	missense	possibly damaging	0.51
R7837:F5	UTSW	1	164,014,363 (GRCm39)	missense	probably damaging	1.00
R7848:F5	UTSW	1	163,989,446 (GRCm39)	missense	possibly damaging	0.94
R7925:F5	UTSW	1	164,003,935 (GRCm39)	critical splice donor site	probably null
R8053:F5	UTSW	1	164,020,338 (GRCm39)	missense	probably benign	0.26
R8094:F5	UTSW	1	164,036,509 (GRCm39)	missense	probably benign	0.06
R8175:F5	UTSW	1	164,019,834 (GRCm39)	nonsense	probably null
R8209:F5	UTSW	1	164,021,959 (GRCm39)	missense	probably benign	0.00
R8226:F5	UTSW	1	164,021,959 (GRCm39)	missense	probably benign	0.00
R8266:F5	UTSW	1	164,012,693 (GRCm39)	critical splice donor site	probably null
R8517:F5	UTSW	1	164,003,822 (GRCm39)	missense	probably damaging	0.99
R8684:F5	UTSW	1	164,045,111 (GRCm39)	missense	probably benign	0.01
R8941:F5	UTSW	1	164,026,440 (GRCm39)	missense	probably benign	0.19
R9130:F5	UTSW	1	164,001,830 (GRCm39)	missense	probably benign	0.37
R9181:F5	UTSW	1	164,019,895 (GRCm39)	missense	probably benign	0.00
R9186:F5	UTSW	1	164,021,470 (GRCm39)	missense	probably benign
R9233:F5	UTSW	1	164,047,020 (GRCm39)	missense	probably damaging	1.00
R9314:F5	UTSW	1	164,029,146 (GRCm39)	missense	probably benign	0.01
R9631:F5	UTSW	1	164,014,423 (GRCm39)	missense	probably damaging	1.00
R9655:F5	UTSW	1	164,021,730 (GRCm39)	missense	probably benign	0.15
X0024:F5	UTSW	1	164,020,557 (GRCm39)	missense	probably damaging	1.00
Z1088:F5	UTSW	1	163,981,954 (GRCm39)	missense	probably benign	0.04
Z1176:F5	UTSW	1	164,012,085 (GRCm39)	missense	probably damaging	0.97

Predicted Primers

PCR Primer
(F):5'- CTTGCACGCACAAGGGTTTC -3'
(R):5'- CCTCCAATGATACTGACTCTGC -3'

Sequencing Primer
(F):5'- GGGTTTCCCCGTCATCCATTG -3'
(R):5'- CCAATGATACTGACTCTGCTTTATTC -3'

Posted On

2014-07-14