Mutagenetix > Incidental Mutation

Incidental Mutation 'R4608:F5'

350857

Institutional Source

Beutler Lab

Gene Symbol

Ensembl Gene

ENSMUSG00000026579

Gene Name

coagulation factor V

Synonyms

Cf-5, Cf5

MMRRC Submission

041819-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R4608 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

163979407-164047846 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 164036598 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Proline to Serine at position 1920 (P1920S)

Ref Sequence

ENSEMBL: ENSMUSP00000083204 (fasta)

Gene Model

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

AlphaFold

O88783

Predicted Effect

probably benign
Transcript: ENSMUST00000086040
AA Change: P1920S

PolyPhen 2 Score 0.116 (Sensitivity: 0.93; Specificity: 0.86)

SMART Domains

Protein: ENSMUSP00000083204
Gene: ENSMUSG00000026579
AA Change: P1920S

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

0.2443

Coding Region Coverage

1x: 99.4%
3x: 98.7%
10x: 97.5%
20x: 95.7%

Validation Efficiency

100% (80/80)

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: 71 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
9930022D16Rik	A	G	11: 109,308,855 (GRCm39)	I74V	unknown	Het
Acss3	T	A	10: 106,802,890 (GRCm39)	I452F	possibly damaging	Het
Adam10	T	C	9: 70,651,173 (GRCm39)	L66P	probably damaging	Het
Adamts18	A	T	8: 114,464,245 (GRCm39)	C738S	probably damaging	Het
Adamts7	T	G	9: 90,056,593 (GRCm39)	S221A	probably damaging	Het
Adrm1	A	G	2: 179,816,648 (GRCm39)		probably benign	Het
Aqp1	T	C	6: 55,313,624 (GRCm39)	V50A	possibly damaging	Het
Aqp4	T	C	18: 15,531,183 (GRCm39)	I193V	probably benign	Het
B130006D01Rik	A	T	11: 95,617,066 (GRCm39)		probably benign	Het
Bbs10	T	G	10: 111,136,681 (GRCm39)	I598S	probably damaging	Het
Bbs10	A	G	10: 111,136,995 (GRCm39)	K703E	probably benign	Het
Ccdc121rt2	A	G	5: 112,597,764 (GRCm39)	S104G	possibly damaging	Het
Ccnl1	C	T	3: 65,854,131 (GRCm39)		probably benign	Het
Crocc2	G	A	1: 93,096,516 (GRCm39)	V24M	possibly damaging	Het
Dab1	C	T	4: 104,588,948 (GRCm39)	A524V	probably benign	Het
Dcdc2a	T	A	13: 25,245,223 (GRCm39)	L100*	probably null	Het
Eif4g3	G	T	4: 137,853,769 (GRCm39)	R618L	probably benign	Het
Fam187b	T	A	7: 30,677,170 (GRCm39)	N226K	probably benign	Het
Fancc	C	A	13: 63,479,637 (GRCm39)		probably benign	Het
Fastk	G	T	5: 24,648,117 (GRCm39)	P233H	probably damaging	Het
Fbn1	A	C	2: 125,148,420 (GRCm39)	D2609E	probably benign	Het
Fes	G	A	7: 80,036,959 (GRCm39)	R42W	probably damaging	Het
Fmnl2	T	A	2: 52,993,728 (GRCm39)	N374K	possibly damaging	Het
Fpgt	G	A	3: 154,792,333 (GRCm39)	Q565*	probably null	Het
Gckr	A	G	5: 31,465,141 (GRCm39)	D370G	probably damaging	Het
Ggt6	T	C	11: 72,328,769 (GRCm39)	M385T	probably benign	Het
Gm26657	C	A	4: 56,741,114 (GRCm39)	H100N	probably benign	Het
Gsg1l	T	A	7: 125,557,721 (GRCm39)	I136F	probably damaging	Het
Hhip	C	T	8: 80,724,192 (GRCm39)	R350Q	probably damaging	Het
Ints1	C	T	5: 139,745,599 (GRCm39)	S1353N	probably benign	Het
Ints10	G	A	8: 69,263,271 (GRCm39)	R394Q	probably damaging	Het
Ints6	T	G	14: 62,940,678 (GRCm39)	R557S	probably damaging	Het
Ints9	T	A	14: 65,269,729 (GRCm39)	I473N	possibly damaging	Het
Itih4	G	A	14: 30,623,626 (GRCm39)	G915R	probably damaging	Het
Kif1a	C	A	1: 92,952,368 (GRCm39)	A1304S	possibly damaging	Het
Kif21b	C	T	1: 136,075,924 (GRCm39)		probably benign	Het
Klk13	C	A	7: 43,363,284 (GRCm39)	C10*	probably null	Het
Krtap4-8	C	T	11: 99,671,321 (GRCm39)		probably benign	Het
Lef1	T	C	3: 130,978,382 (GRCm39)	S167P	probably benign	Het
Leng8	T	A	7: 4,147,796 (GRCm39)	I607N	probably damaging	Het
Lrch4	T	A	5: 137,637,408 (GRCm39)	L526*	probably null	Het
Memo1	G	A	17: 74,565,456 (GRCm39)	Q36*	probably null	Het
Nod1	C	A	6: 54,920,741 (GRCm39)	A526S	probably damaging	Het
Nostrin	G	A	2: 69,014,243 (GRCm39)	V400M	possibly damaging	Het
Nrip1	T	C	16: 76,089,920 (GRCm39)	T546A	probably benign	Het
Nxf1	A	G	19: 8,740,127 (GRCm39)	D98G	probably benign	Het
Or13a24	A	G	7: 140,154,554 (GRCm39)	M163V	probably benign	Het
Or1l4	T	A	2: 37,092,094 (GRCm39)	Y280*	probably null	Het
Or2h2b-ps1	A	T	17: 37,481,173 (GRCm39)	V20E	probably damaging	Het
Or2t1	A	G	14: 14,328,887 (GRCm38)	M259V	probably benign	Het
Or4c114	G	T	2: 88,904,656 (GRCm39)	P260T	probably benign	Het
Or6aa1	A	T	7: 86,043,718 (GRCm39)		probably null	Het
Osgep	T	C	14: 51,155,378 (GRCm39)	Y60C	probably damaging	Het
P2ry6	A	G	7: 100,587,511 (GRCm39)	Y283H	probably damaging	Het
Pcdha7	A	T	18: 37,108,870 (GRCm39)	S632C	possibly damaging	Het
Pms1	T	A	1: 53,234,097 (GRCm39)	R806S	possibly damaging	Het
Qars1	T	A	9: 108,386,625 (GRCm39)		probably null	Het
Rxfp1	T	C	3: 79,594,196 (GRCm39)	N66S	probably damaging	Het
Slc12a5	A	T	2: 164,815,685 (GRCm39)	N67I	probably damaging	Het
Slc1a4	G	T	11: 20,254,348 (GRCm39)	T506K	probably damaging	Het
Stimate	C	A	14: 30,594,490 (GRCm39)		probably benign	Het
Tlr9	T	A	9: 106,102,173 (GRCm39)	I488N	probably damaging	Het
Tmem74	G	T	15: 43,730,554 (GRCm39)	T163K	probably damaging	Het
Uba2	T	C	7: 33,854,021 (GRCm39)	D307G	probably damaging	Het
Uty	C	T	Y: 1,131,134 (GRCm39)	R924Q	probably damaging	Het
Wdr7	C	T	18: 63,910,651 (GRCm39)	T681I	probably benign	Het
Xab2	A	G	8: 3,668,105 (GRCm39)	S158P	probably benign	Het
Ythdc1	T	C	5: 86,970,667 (GRCm39)	S418P	probably damaging	Het
Zfand4	T	A	6: 116,305,195 (GRCm39)	C207*	probably null	Het
Zfp367	C	T	13: 64,283,238 (GRCm39)	D305N	probably damaging	Het
Zfp804b	C	T	5: 6,822,584 (GRCm39)	V160I	probably benign	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
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
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'- GTGAACTTTAGTCCTGCCTGGTC -3'
(R):5'- TTAAGTGGCGAGGTACAGC -3'

Sequencing Primer
(F):5'- AGTCCTGCCTGGTCTATATATACAAC -3'
(R):5'- ACACTGACTAGCTGTGCTG -3'

Posted On

2015-10-08