Mutagenetix > Incidental Mutation

Incidental Mutation 'R1800:F5'

203002

Institutional Source

Beutler Lab

Gene Symbol

Ensembl Gene

ENSMUSG00000026579

Gene Name

coagulation factor V

Synonyms

Cf-5, Cf5

MMRRC Submission

039830-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R1800 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

163979407-164047846 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 164010403 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Histidine to Arginine at position 378 (H378R)

Ref Sequence

ENSEMBL: ENSMUSP00000083204 (fasta)

Gene Model

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

AlphaFold

O88783

Predicted Effect

probably damaging
Transcript: ENSMUST00000086040
AA Change: H378R

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

SMART Domains

Protein: ENSMUSP00000083204
Gene: ENSMUSG00000026579
AA Change: H378R

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

Coding Region Coverage

1x: 97.4%
3x: 96.8%
10x: 95.0%
20x: 91.2%

Validation Efficiency

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: 92 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1110002E22Rik	A	G	3: 137,772,479 (GRCm39)	K556R	probably damaging	Het
4933406P04Rik	A	T	10: 20,186,893 (GRCm39)		probably benign	Het
Acmsd	C	A	1: 127,687,493 (GRCm39)	Y258*	probably null	Het
Adgrf5	A	T	17: 43,761,973 (GRCm39)	I1223F	probably damaging	Het
Afp	C	T	5: 90,638,655 (GRCm39)	P6S	probably benign	Het
Agap2	C	A	10: 126,927,540 (GRCm39)	H1120Q	probably damaging	Het
Angpt1	A	G	15: 42,375,800 (GRCm39)	V152A	probably damaging	Het
Ankrd1	A	T	19: 36,096,759 (GRCm39)	F23I	probably damaging	Het
Armc12	T	C	17: 28,757,869 (GRCm39)	S334P	possibly damaging	Het
Arnt2	C	A	7: 83,924,583 (GRCm39)	D415Y	probably damaging	Het
Cacna1s	G	T	1: 136,004,592 (GRCm39)	V131L	probably benign	Het
Cacna2d2	T	C	9: 107,404,632 (GRCm39)	V1141A	possibly damaging	Het
Cfap61	T	C	2: 145,884,542 (GRCm39)	L580P	probably damaging	Het
Chga	A	T	12: 102,522,164 (GRCm39)	S23C	probably damaging	Het
Chrna5	A	G	9: 54,912,159 (GRCm39)	T320A	probably damaging	Het
Col17a1	G	T	19: 47,639,301 (GRCm39)	N1081K	possibly damaging	Het
Cox7b2	A	T	5: 71,600,406 (GRCm39)	C51S	possibly damaging	Het
Cstdc3	T	A	16: 36,132,895 (GRCm39)	D57E	probably damaging	Het
Cwc22	A	T	2: 77,759,797 (GRCm39)	D83E	possibly damaging	Het
D130043K22Rik	A	C	13: 25,067,877 (GRCm39)	D871A	probably damaging	Het
Dab2	A	T	15: 6,464,948 (GRCm39)	M361L	probably benign	Het
Dnah11	A	C	12: 117,880,523 (GRCm39)	Y3866D	probably damaging	Het
Dnmbp	A	G	19: 43,890,159 (GRCm39)	I536T	probably benign	Het
Ehmt1	A	T	2: 24,774,302 (GRCm39)	S43R	probably damaging	Het
Ercc5	T	C	1: 44,212,540 (GRCm39)	L666P	probably benign	Het
Fat2	A	T	11: 55,174,718 (GRCm39)	N1998K	probably damaging	Het
Fbxo28	T	C	1: 182,169,099 (GRCm39)	D13G	unknown	Het
Fras1	T	C	5: 96,857,741 (GRCm39)	S2012P	probably benign	Het
Gm5624	T	A	14: 44,799,302 (GRCm39)	N41I	probably damaging	Het
Gm8104	A	G	14: 42,959,028 (GRCm39)	I73V	possibly damaging	Het
Gpr141b	T	C	13: 19,913,849 (GRCm39)		noncoding transcript	Het
Gpr68	G	A	12: 100,845,167 (GRCm39)	P126S	probably damaging	Het
Gucy1a2	A	T	9: 3,582,685 (GRCm39)	T156S	possibly damaging	Het
Hacl1	T	A	14: 31,336,221 (GRCm39)	Y429F	probably damaging	Het
Haus3	A	C	5: 34,320,916 (GRCm39)	L510R	probably damaging	Het
Helq	C	T	5: 100,921,990 (GRCm39)	G738D	probably benign	Het
Hsd3b2	G	C	3: 98,619,553 (GRCm39)	P131A	probably damaging	Het
Il22ra1	G	T	4: 135,475,471 (GRCm39)	C247F	probably benign	Het
Ivl	T	C	3: 92,479,891 (GRCm39)	E58G	unknown	Het
Kcnk9	G	T	15: 72,417,948 (GRCm39)	Q61K	probably benign	Het
Kremen1	CGGG	CGGGGGG	11: 5,151,791 (GRCm39)		probably benign	Het
Loxhd1	G	T	18: 77,490,198 (GRCm39)	A1314S	probably damaging	Het
Lratd1	T	C	12: 14,200,226 (GRCm39)	Y167C	probably damaging	Het
Lrba	A	G	3: 86,259,175 (GRCm39)	I1397V	probably benign	Het
Lrig3	T	A	10: 125,832,920 (GRCm39)		probably null	Het
Lrrc36	A	G	8: 106,176,397 (GRCm39)	D378G	probably damaging	Het
Lrrc49	G	A	9: 60,505,474 (GRCm39)	T527I	probably damaging	Het
Map4k4	C	A	1: 40,062,620 (GRCm39)	T1195K	probably damaging	Het
Mrps33	G	A	6: 39,779,429 (GRCm39)	R89C	probably damaging	Het
Mtor	T	C	4: 148,547,349 (GRCm39)	V444A	probably benign	Het
Myh2	A	G	11: 67,079,764 (GRCm39)	E1046G	probably damaging	Het
Myo15b	G	T	11: 115,771,335 (GRCm39)		probably null	Het
Myo5c	T	C	9: 75,153,446 (GRCm39)	Y111H	probably damaging	Het
Ncoa4-ps	A	T	12: 119,225,506 (GRCm39)		noncoding transcript	Het
Ndufv2	G	C	17: 66,390,481 (GRCm39)	T163R	probably damaging	Het
Nf1	A	G	11: 79,444,794 (GRCm39)	N373S	possibly damaging	Het
Nwd2	A	G	5: 63,962,917 (GRCm39)	M834V	probably benign	Het
Ogfod2	T	C	5: 124,253,019 (GRCm39)	V343A	probably damaging	Het
Or11g2	C	T	14: 50,856,143 (GRCm39)	L155F	probably benign	Het
Or11j4	C	A	14: 50,630,786 (GRCm39)	S191*	probably null	Het
Or3a1b	A	T	11: 74,012,234 (GRCm39)	T40S	probably benign	Het
Or4c115	T	A	2: 88,928,050 (GRCm39)	T74S	probably benign	Het
Or51ag1	T	C	7: 103,155,248 (GRCm39)	I302V	possibly damaging	Het
Or52ab2	T	A	7: 102,969,621 (GRCm39)	M1K	probably null	Het
Or8g34	A	T	9: 39,373,410 (GRCm39)	I228F	probably damaging	Het
Parp1	T	A	1: 180,428,091 (GRCm39)		probably null	Het
Ppp3ca	A	T	3: 136,640,792 (GRCm39)	I448F	probably damaging	Het
Prss44	T	C	9: 110,646,272 (GRCm39)	V333A	probably damaging	Het
Pxk	C	T	14: 8,151,507 (GRCm38)	R441*	probably null	Het
Rars1	A	C	11: 35,716,822 (GRCm39)	D231E	probably benign	Het
Rfc1	T	C	5: 65,421,722 (GRCm39)	Y1059C	probably damaging	Het
Rilpl1	T	A	5: 124,652,719 (GRCm39)	I2F	probably damaging	Het
Sarm1	G	T	11: 78,381,820 (GRCm39)	A221E	possibly damaging	Het
Serpina3f	A	G	12: 104,183,665 (GRCm39)	T176A	probably damaging	Het
Slc22a20	T	C	19: 6,035,695 (GRCm39)	E131G	probably benign	Het
Slc26a11	T	C	11: 119,263,979 (GRCm39)	V343A	probably damaging	Het
Slc2a4	A	G	11: 69,837,133 (GRCm39)	I9T	probably benign	Het
Slc39a6	G	T	18: 24,718,259 (GRCm39)	D599E	probably damaging	Het
Slc5a6	G	T	5: 31,198,020 (GRCm39)	S285*	probably null	Het
Spata9	A	G	13: 76,125,760 (GRCm39)	H81R	probably benign	Het
St7l	A	G	3: 104,826,812 (GRCm39)	E436G	probably damaging	Het
Tecrl	A	G	5: 83,427,077 (GRCm39)	I357T	probably damaging	Het
Thop1	C	T	10: 80,909,043 (GRCm39)	R25C	probably damaging	Het
Tmprss12	A	G	15: 100,190,428 (GRCm39)	E266G	probably benign	Het
Tpgs1	T	A	10: 79,511,344 (GRCm39)	V162D	possibly damaging	Het
Trpa1	C	T	1: 14,944,648 (GRCm39)	R1032Q	probably benign	Het
Tspan12	A	G	6: 21,795,699 (GRCm39)	Y164H	probably damaging	Het
Ubr4	T	C	4: 139,135,274 (GRCm39)	Y869H	probably damaging	Het
Vmn1r21	A	G	6: 57,820,799 (GRCm39)	I215T	probably benign	Het
Zan	A	T	5: 137,384,713 (GRCm39)	S5104T	unknown	Het
Zfp318	T	C	17: 46,722,980 (GRCm39)	V1661A	probably benign	Het
Zfp365	C	T	10: 67,724,772 (GRCm39)	R372K	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
R1842:F5	UTSW	1	164,012,129 (GRCm39)	missense	probably damaging	0.99
R1915:F5	UTSW	1	164,010,486 (GRCm39)	missense	probably damaging	0.97
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'- TCAGGATGCAAACTACACTCAG -3'
(R):5'- AAAACTGCCAGTCCCTTGATC -3'

Sequencing Primer
(F):5'- TCAGACTGTTCCCAGAAGTAGC -3'
(R):5'- GCCAGTCCCTTGATCTGTCTTTC -3'

Posted On

2014-06-23