Mutagenetix > Incidental Mutation

Incidental Mutation 'R4910:Cp'

379366

Institutional Source

Beutler Lab

Gene Symbol

Ensembl Gene

ENSMUSG00000003617

Gene Name

ceruloplasmin

Synonyms

D3Ertd555e

MMRRC Submission

042512-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R4910 (G1)

Quality Score

204

Status

Validated

Chromosome

Chromosomal Location

20011218-20063309 bp(+) (GRCm39)

Type of Mutation

unclassified

DNA Base Change (assembly)

T to A at 20043388 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000133676 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000003714] [ENSMUST00000091309] [ENSMUST00000108325] [ENSMUST00000108328] [ENSMUST00000108329] [ENSMUST00000173779] [ENSMUST00000173848]

AlphaFold

Q61147

Predicted Effect

probably benign
Transcript: ENSMUST00000003714

SMART Domains

Protein: ENSMUSP00000003714
Gene: ENSMUSG00000003617

Domain	Start	End	E-Value	Type
Pfam:Cu-oxidase_3	90	203	5.1e-8	PFAM
Pfam:Cu-oxidase	220	357	9.6e-11	PFAM
Pfam:Cu-oxidase_2	280	357	1.1e-7	PFAM
Pfam:Cu-oxidase_3	444	556	1.4e-7	PFAM
Blast:FA58C	598	673	3e-6	BLAST
Pfam:Cu-oxidase_3	789	897	2.3e-9	PFAM
Pfam:Cu-oxidase_2	927	1054	8.3e-18	PFAM
low complexity region	1067	1078	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000091309

SMART Domains

Protein: ENSMUSP00000088857
Gene: ENSMUSG00000003617

Domain	Start	End	E-Value	Type
Pfam:Cu-oxidase_3	90	203	7.7e-8	PFAM
Pfam:Cu-oxidase	220	357	1.1e-11	PFAM
Pfam:Cu-oxidase_2	280	357	2e-7	PFAM
Pfam:Cu-oxidase_3	444	557	4.6e-7	PFAM
Blast:FA58C	599	674	2e-6	BLAST
Pfam:Cu-oxidase_3	790	898	3.4e-9	PFAM
Pfam:Cu-oxidase_2	928	1055	1.6e-17	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000108325

SMART Domains

Protein: ENSMUSP00000103961
Gene: ENSMUSG00000003617

Domain	Start	End	E-Value	Type
Pfam:Cu-oxidase_3	90	203	4.9e-8	PFAM
Pfam:Cu-oxidase	220	357	9.3e-11	PFAM
Pfam:Cu-oxidase_2	280	357	1e-7	PFAM
Pfam:Cu-oxidase_3	444	556	1.4e-7	PFAM
Blast:FA58C	598	673	2e-6	BLAST
Pfam:Cu-oxidase_3	789	897	2.2e-9	PFAM
Pfam:Cu-oxidase_2	927	1054	8.1e-18	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000108328

SMART Domains

Protein: ENSMUSP00000103964
Gene: ENSMUSG00000003617

Domain	Start	End	E-Value	Type
Pfam:Cu-oxidase_3	90	203	5.1e-8	PFAM
Pfam:Cu-oxidase	220	357	9.6e-11	PFAM
Pfam:Cu-oxidase_2	280	357	1.1e-7	PFAM
Pfam:Cu-oxidase_3	444	556	1.4e-7	PFAM
Blast:FA58C	598	673	3e-6	BLAST
Pfam:Cu-oxidase_3	789	897	2.3e-9	PFAM
Pfam:Cu-oxidase_2	927	1054	8.3e-18	PFAM
low complexity region	1067	1078	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000108329

SMART Domains

Protein: ENSMUSP00000103965
Gene: ENSMUSG00000003617

Domain	Start	End	E-Value	Type
Pfam:Cu-oxidase_3	89	203	8.7e-8	PFAM
Pfam:Cu-oxidase	220	357	7.8e-12	PFAM
Pfam:Cu-oxidase_2	242	356	2.1e-7	PFAM
Pfam:Cu-oxidase_3	445	555	4.4e-7	PFAM
Blast:FA58C	599	674	3e-6	BLAST
Pfam:Cu-oxidase_3	793	898	6.1e-9	PFAM
Pfam:Cu-oxidase_2	931	1055	5.2e-18	PFAM
low complexity region	1068	1079	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000129135

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000150264

Predicted Effect

probably benign
Transcript: ENSMUST00000173779

SMART Domains

Protein: ENSMUSP00000133643
Gene: ENSMUSG00000003617

Domain	Start	End	E-Value	Type
SCOP:d1gw0a3	1	37	7e-5	SMART

Predicted Effect

unknown
Transcript: ENSMUST00000172860
AA Change: S195T

SMART Domains

Protein: ENSMUSP00000133374
Gene: ENSMUSG00000003617
AA Change: S195T

Domain	Start	End	E-Value	Type
Pfam:Cu-oxidase	53	192	1.4e-6	PFAM
Pfam:Cu-oxidase_2	66	192	4.5e-19	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000173848

SMART Domains

Protein: ENSMUSP00000133676
Gene: ENSMUSG00000003617

Domain	Start	End	E-Value	Type
Pfam:Cu-oxidase_3	16	93	1e-10	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000172605

SMART Domains

Protein: ENSMUSP00000134347
Gene: ENSMUSG00000003617

Domain	Start	End	E-Value	Type
PDB:1KCW\|A	2	58	2e-28	PDB
SCOP:d1kcw_5	22	58	4e-11	SMART

Meta Mutation Damage Score

0.1278

Coding Region Coverage

1x: 98.9%
3x: 97.9%
10x: 94.6%
20x: 86.1%

Validation Efficiency

95% (144/151)

MGI Phenotype

FUNCTION: The protein encoded by this gene is a copper-containing glycoprotein found soluble in the serum and GPI-anchored in other tissues. It oxidizes Fe(II) to Fe(III) and is proposed to play an important role in iron homeostasis. In humans mutations of this gene cause aceruloplasminemia, which is characterized by retinal degeneration, diabetes, anemia and neurological symptoms. In mouse deficiency of this gene in combination with a deficiency of its homolog hephaestin causes retinal degeneration and serves as a pathophysiological model for aceruloplasminemia and age-related macular degeneration. Alternative splicing results in multiple transcript variants that encode different protein isoforms. [provided by RefSeq, Jan 2013]
PHENOTYPE: Homozygotes for targeted null mutations exhibit progressive accumulation of stored iron in the liver, spleen, cerebellum, and brainstem, mild iron deficiency anemia, and impaired motor coordination associated with loss of brainstem dopaminergic neurons. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 123 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aadacl2fm3	T	A	3: 59,776,435 (GRCm39)		probably null	Het
Adam3	T	A	8: 25,184,321 (GRCm39)	I560L	probably benign	Het
Agxt	T	C	1: 93,063,436 (GRCm39)	F113L	probably benign	Het
Aknad1	T	A	3: 108,688,568 (GRCm39)		probably null	Het
Alpk2	T	A	18: 65,399,357 (GRCm39)	K2074*	probably null	Het
Apob	A	G	12: 8,057,848 (GRCm39)	Y2077C	probably damaging	Het
Arhgap17	A	T	7: 122,907,600 (GRCm39)	L254Q	probably damaging	Het
Arhgap26	T	A	18: 39,126,690 (GRCm39)		probably benign	Het
Arhgef5	A	G	6: 43,249,762 (GRCm39)	D171G	probably benign	Het
Arid1b	T	A	17: 5,392,478 (GRCm39)	S2003T	probably damaging	Het
Armc5	T	G	7: 127,839,900 (GRCm39)	L406R	possibly damaging	Het
Arsb	T	C	13: 93,908,485 (GRCm39)	V67A	probably benign	Het
Aspm	A	G	1: 139,419,281 (GRCm39)	Y2982C	probably damaging	Het
Bltp1	C	A	3: 37,052,348 (GRCm39)	T3016K	probably damaging	Het
Btbd7	A	G	12: 102,774,307 (GRCm39)	L487P	probably damaging	Het
Card11	C	G	5: 140,860,169 (GRCm39)	D1063H	probably damaging	Het
Ccdc186	G	A	19: 56,787,123 (GRCm39)	T615M	probably damaging	Het
Cd101	T	A	3: 100,901,205 (GRCm39)	T960S	probably benign	Het
Cdca7l	C	A	12: 117,837,520 (GRCm39)	S191*	probably null	Het
Cemip	A	T	7: 83,646,619 (GRCm39)	I143N	probably damaging	Het
Cep170	C	T	1: 176,609,829 (GRCm39)	E161K	possibly damaging	Het
Cfhr4	T	G	1: 139,702,301 (GRCm39)	D61A	probably damaging	Het
Chrm2	A	T	6: 36,501,168 (GRCm39)	T342S	probably benign	Het
Cib2	A	G	9: 54,457,163 (GRCm39)	F34L	probably benign	Het
Cnot1	A	T	8: 96,459,859 (GRCm39)	I1836N	probably benign	Het
Col4a3	C	A	1: 82,650,400 (GRCm39)	P552Q	unknown	Het
Cul3	C	T	1: 80,267,806 (GRCm39)	V112I	probably benign	Het
Dcdc5	A	G	2: 106,195,895 (GRCm39)		noncoding transcript	Het
Disp1	A	T	1: 182,917,027 (GRCm39)	V133E	probably damaging	Het
Dlg4	A	G	11: 69,921,751 (GRCm39)	D30G	probably damaging	Het
Dop1a	C	T	9: 86,374,114 (GRCm39)	T191I	probably damaging	Het
Enam	T	G	5: 88,650,173 (GRCm39)	S561A	probably benign	Het
Fbxw8	G	T	5: 118,263,092 (GRCm39)		probably null	Het
Filip1	A	G	9: 79,725,214 (GRCm39)	V1135A	probably benign	Het
Galnt6	T	C	15: 100,614,059 (GRCm39)	T81A	probably benign	Het
Ghdc	T	C	11: 100,657,814 (GRCm39)	K472E	probably benign	Het
Gm10568	T	G	1: 3,751,164 (GRCm39)		noncoding transcript	Het
Gm4953	T	A	1: 158,995,929 (GRCm39)		noncoding transcript	Het
Gm6871	T	A	7: 41,223,016 (GRCm39)	H24L	probably benign	Het
Gpr155	G	A	2: 73,197,882 (GRCm39)	Q413*	probably null	Het
Grhl2	A	G	15: 37,291,920 (GRCm39)		probably null	Het
Ighv1-31	G	C	12: 114,793,128 (GRCm39)	S36*	probably null	Het
Ighv8-5	A	G	12: 115,031,462 (GRCm39)	S26P	probably damaging	Het
Igkv17-134	A	C	6: 67,697,910 (GRCm39)		probably benign	Het
Igkv5-48	A	C	6: 69,703,833 (GRCm39)	L24R	probably damaging	Het
Isg20l2	T	A	3: 87,846,570 (GRCm39)	V340E	probably damaging	Het
Lrrtm1	A	G	6: 77,221,884 (GRCm39)	Y447C	probably damaging	Het
Ltbp1	T	C	17: 75,634,287 (GRCm39)	S855P	probably damaging	Het
Mgat4e	A	T	1: 134,469,602 (GRCm39)	N147K	probably damaging	Het
Mlc1	A	G	15: 88,842,415 (GRCm39)	L315P	possibly damaging	Het
Mrgpra2a	A	G	7: 47,076,292 (GRCm39)	V322A	probably benign	Het
Mroh7	T	C	4: 106,567,152 (GRCm39)		probably null	Het
Mybpc1	T	A	10: 88,391,586 (GRCm39)	K304*	probably null	Het
Nlrp14	A	C	7: 106,785,790 (GRCm39)	D622A	possibly damaging	Het
Nlrp1b	T	A	11: 71,108,103 (GRCm39)	H466L	probably benign	Het
Nlrp4d	T	A	7: 10,112,336 (GRCm39)		noncoding transcript	Het
Nrxn3	A	G	12: 89,227,130 (GRCm39)	E628G	possibly damaging	Het
Nup133	T	C	8: 124,653,870 (GRCm39)	R530G	possibly damaging	Het
Nup98	A	G	7: 101,845,007 (GRCm39)	S21P	unknown	Het
Or2h2b-ps1	T	C	17: 37,480,934 (GRCm39)	I202V	probably benign	Het
Or2l13b	T	C	16: 19,348,768 (GRCm39)	T301A	probably benign	Het
Or4f14b	A	T	2: 111,775,423 (GRCm39)	I126K	possibly damaging	Het
Or52e8	G	A	7: 104,624,686 (GRCm39)	P169S	possibly damaging	Het
Or5k1	T	A	16: 58,617,805 (GRCm39)	T135S	probably benign	Het
Or6c66	T	C	10: 129,461,676 (GRCm39)	T85A	probably damaging	Het
Or8c11	T	A	9: 38,290,038 (GRCm39)	V287E	probably null	Het
Otog	A	T	7: 45,913,486 (GRCm39)	Y773F	probably damaging	Het
Otog	A	T	7: 45,947,958 (GRCm39)	I2320F	probably damaging	Het
Otogl	T	C	10: 107,715,378 (GRCm39)	S433G	probably benign	Het
Pcdhb17	A	T	18: 37,618,212 (GRCm39)	M1L	possibly damaging	Het
Pde7b	T	A	10: 20,600,480 (GRCm39)		probably benign	Het
Pgm1	T	C	4: 99,820,724 (GRCm39)	V207A	probably damaging	Het
Pkd1	T	A	17: 24,791,661 (GRCm39)	V1116E	probably damaging	Het
Pkd1l1	T	A	11: 8,879,360 (GRCm39)	Y497F	possibly damaging	Het
Pomgnt2	T	C	9: 121,812,013 (GRCm39)	N256S	probably benign	Het
Pot1a	A	T	6: 25,746,020 (GRCm39)		probably benign	Het
Prdm9	T	C	17: 15,764,585 (GRCm39)	T732A	probably benign	Het
Prg4	T	A	1: 150,331,574 (GRCm39)		probably benign	Het
Ptpro	T	C	6: 137,345,336 (GRCm39)	V114A	probably damaging	Het
Pyurf	A	G	6: 57,668,933 (GRCm39)	S20P	unknown	Het
Rasgrf1	A	G	9: 89,858,805 (GRCm39)	T488A	probably benign	Het
Rassf8	A	T	6: 145,761,006 (GRCm39)	K111*	probably null	Het
Reps1	A	T	10: 17,983,436 (GRCm39)	E426D	probably damaging	Het
Robo2	T	C	16: 73,730,666 (GRCm39)	K982R	probably damaging	Het
Rps23	T	C	13: 91,071,871 (GRCm39)		probably null	Het
Scamp4	T	A	10: 80,445,505 (GRCm39)	V56E	probably damaging	Het
Serpina1c	C	T	12: 103,861,291 (GRCm39)	V408I	probably benign	Het
Sigirr	A	G	7: 140,673,701 (GRCm39)	W49R	probably damaging	Het
Slc17a6	A	T	7: 51,308,489 (GRCm39)	H271L	possibly damaging	Het
Slc7a5	G	T	8: 122,611,861 (GRCm39)	T389K	probably damaging	Het
Slf1	T	A	13: 77,191,999 (GRCm39)	H945L	probably benign	Het
Slit3	T	C	11: 35,523,549 (GRCm39)	S662P	probably damaging	Het
Snta1	C	A	2: 154,218,938 (GRCm39)	E466*	probably null	Het
Sowaha	A	G	11: 53,369,272 (GRCm39)	L488P	probably damaging	Het
Spata17	C	A	1: 186,926,208 (GRCm39)	V41F	probably damaging	Het
Spta1	T	A	1: 174,045,429 (GRCm39)		probably null	Het
Srrm2	T	A	17: 24,034,362 (GRCm39)		probably benign	Het
Stard13	T	C	5: 150,985,992 (GRCm39)	N388S	probably benign	Het
Stmn3	T	C	2: 180,950,630 (GRCm39)	K59E	probably damaging	Het
Sval1	A	G	6: 41,932,378 (GRCm39)	N76S	probably benign	Het
Svep1	T	C	4: 58,096,276 (GRCm39)	H1448R	possibly damaging	Het
Sycp2	A	T	2: 178,000,017 (GRCm39)	D986E	probably benign	Het
Sytl5	C	T	X: 9,781,841 (GRCm39)	P181L	possibly damaging	Het
Tbkbp1	G	A	11: 97,029,956 (GRCm39)	S400L	probably benign	Het
Tesc	G	T	5: 118,194,531 (GRCm39)		probably benign	Het
Tjp1	C	T	7: 64,993,475 (GRCm39)	G33R	probably damaging	Het
Tlr11	C	A	14: 50,600,346 (GRCm39)	F777L	probably benign	Het
Tmem156	A	G	5: 65,248,805 (GRCm39)		probably benign	Het
Top3a	A	G	11: 60,643,204 (GRCm39)		probably benign	Het
Tpcn1	A	G	5: 120,694,584 (GRCm39)	W162R	probably damaging	Het
Tpd52l2	A	T	2: 181,157,005 (GRCm39)		probably benign	Het
Trim80	G	A	11: 115,337,281 (GRCm39)	G381D	probably damaging	Het
Ugt1a10	C	T	1: 88,142,845 (GRCm39)	P113L	probably damaging	Het
Vmn2r117	TC	T	17: 23,698,487 (GRCm39)		probably null	Het
Vmn2r56	T	A	7: 12,449,462 (GRCm39)	I259F	possibly damaging	Het
Vmn2r59	T	C	7: 41,693,077 (GRCm39)	T508A	probably benign	Het
Wdr73	A	G	7: 80,541,456 (GRCm39)	V362A	probably damaging	Het
Zdhhc21	G	T	4: 82,738,568 (GRCm39)	T207K	possibly damaging	Het
Zfp120	T	A	2: 149,959,872 (GRCm39)	Q150L	probably damaging	Het
Zfp212	C	A	6: 47,908,433 (GRCm39)	Q471K	possibly damaging	Het
Zfp804b	C	T	5: 6,820,540 (GRCm39)	G841D	possibly damaging	Het
Znfx1	A	T	2: 166,878,724 (GRCm39)	M1884K	probably damaging	Het
Znfx1	G	T	2: 166,879,402 (GRCm39)	A1658D	probably benign	Het

Other mutations in Cp

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00423:Cp	APN	3	20,039,826 (GRCm39)	missense	possibly damaging	0.95
IGL00923:Cp	APN	3	20,024,165 (GRCm39)	missense	probably damaging	1.00
IGL01302:Cp	APN	3	20,020,531 (GRCm39)	missense	probably damaging	0.99
IGL01407:Cp	APN	3	20,031,369 (GRCm39)	missense	possibly damaging	0.79
IGL01505:Cp	APN	3	20,031,356 (GRCm39)	missense	possibly damaging	0.83
IGL01677:Cp	APN	3	20,020,598 (GRCm39)	missense	probably damaging	1.00
IGL02013:Cp	APN	3	20,042,213 (GRCm39)	missense	probably damaging	1.00
IGL02114:Cp	APN	3	20,020,511 (GRCm39)	missense	probably benign	0.16
IGL02950:Cp	APN	3	20,042,165 (GRCm39)	missense	probably damaging	0.99
IGL03330:Cp	APN	3	20,020,599 (GRCm39)	missense	probably damaging	1.00
iron10	UTSW	3	20,043,311 (GRCm39)	unclassified	probably benign
R0008:Cp	UTSW	3	20,022,287 (GRCm39)	missense	probably damaging	1.00
R0008:Cp	UTSW	3	20,022,287 (GRCm39)	missense	probably damaging	1.00
R0320:Cp	UTSW	3	20,029,012 (GRCm39)	splice site	probably benign
R0632:Cp	UTSW	3	20,025,246 (GRCm39)	missense	probably null	0.98
R1103:Cp	UTSW	3	20,036,149 (GRCm39)	missense	possibly damaging	0.82
R1137:Cp	UTSW	3	20,033,116 (GRCm39)	missense	probably benign	0.04
R1199:Cp	UTSW	3	20,031,316 (GRCm39)	missense	probably damaging	1.00
R1523:Cp	UTSW	3	20,043,229 (GRCm39)	missense	probably benign	0.00
R1629:Cp	UTSW	3	20,020,614 (GRCm39)	critical splice donor site	probably null
R1678:Cp	UTSW	3	20,026,881 (GRCm39)	missense	probably damaging	0.99
R1733:Cp	UTSW	3	20,022,383 (GRCm39)	splice site	probably benign
R1779:Cp	UTSW	3	20,011,549 (GRCm39)	missense	possibly damaging	0.91
R1816:Cp	UTSW	3	20,022,384 (GRCm39)	splice site	probably benign
R1990:Cp	UTSW	3	20,033,177 (GRCm39)	missense	probably damaging	1.00
R2014:Cp	UTSW	3	20,041,598 (GRCm39)	missense	probably benign	0.00
R2179:Cp	UTSW	3	20,042,151 (GRCm39)	missense	probably damaging	1.00
R2249:Cp	UTSW	3	20,041,734 (GRCm39)	missense	probably damaging	1.00
R3440:Cp	UTSW	3	20,029,121 (GRCm39)	missense	probably benign	0.02
R3441:Cp	UTSW	3	20,029,121 (GRCm39)	missense	probably benign	0.02
R3886:Cp	UTSW	3	20,043,275 (GRCm39)	missense	probably damaging	1.00
R3937:Cp	UTSW	3	20,025,198 (GRCm39)	missense	probably damaging	1.00
R4387:Cp	UTSW	3	20,031,366 (GRCm39)	missense	probably damaging	1.00
R4412:Cp	UTSW	3	20,020,517 (GRCm39)	missense	probably damaging	1.00
R4413:Cp	UTSW	3	20,020,517 (GRCm39)	missense	probably damaging	1.00
R4514:Cp	UTSW	3	20,042,177 (GRCm39)	missense	probably damaging	0.99
R4578:Cp	UTSW	3	20,028,052 (GRCm39)	missense	probably damaging	1.00
R4579:Cp	UTSW	3	20,011,599 (GRCm39)	splice site	probably null
R4694:Cp	UTSW	3	20,029,049 (GRCm39)	missense	probably benign	0.07
R4724:Cp	UTSW	3	20,026,811 (GRCm39)	missense	probably benign	0.02
R4960:Cp	UTSW	3	20,027,961 (GRCm39)	missense	probably damaging	0.96
R5043:Cp	UTSW	3	20,028,081 (GRCm39)	missense	probably benign	0.00
R5063:Cp	UTSW	3	20,043,379 (GRCm39)	missense	probably benign	0.27
R5294:Cp	UTSW	3	20,020,480 (GRCm39)	missense	probably benign	0.00
R5382:Cp	UTSW	3	20,033,089 (GRCm39)	missense	probably damaging	1.00
R5404:Cp	UTSW	3	20,043,292 (GRCm39)	missense	possibly damaging	0.92
R5569:Cp	UTSW	3	20,033,041 (GRCm39)	missense	probably damaging	1.00
R5789:Cp	UTSW	3	20,011,454 (GRCm39)	missense	probably benign
R5943:Cp	UTSW	3	20,018,470 (GRCm39)	missense	probably benign	0.11
R6492:Cp	UTSW	3	20,036,186 (GRCm39)	missense	probably benign	0.20
R6540:Cp	UTSW	3	20,018,693 (GRCm39)	critical splice donor site	probably null
R7007:Cp	UTSW	3	20,024,137 (GRCm39)	missense	probably damaging	0.97
R7126:Cp	UTSW	3	20,034,788 (GRCm39)	missense	probably damaging	1.00
R7136:Cp	UTSW	3	20,039,822 (GRCm39)	nonsense	probably null
R7212:Cp	UTSW	3	20,029,130 (GRCm39)	missense	probably damaging	1.00
R7269:Cp	UTSW	3	20,037,641 (GRCm39)	missense	probably damaging	1.00
R7316:Cp	UTSW	3	20,026,916 (GRCm39)	missense	probably damaging	1.00
R7336:Cp	UTSW	3	20,018,696 (GRCm39)	splice site	probably null
R7361:Cp	UTSW	3	20,018,470 (GRCm39)	missense	probably benign	0.11
R7578:Cp	UTSW	3	20,043,262 (GRCm39)	missense	possibly damaging	0.65
R7593:Cp	UTSW	3	20,020,494 (GRCm39)	missense	probably benign	0.00
R7782:Cp	UTSW	3	20,029,223 (GRCm39)	critical splice donor site	probably null
R7858:Cp	UTSW	3	20,025,219 (GRCm39)	missense	probably benign	0.05
R8246:Cp	UTSW	3	20,029,186 (GRCm39)	missense	probably damaging	1.00
R8247:Cp	UTSW	3	20,020,570 (GRCm39)	missense	possibly damaging	0.84
R8300:Cp	UTSW	3	20,011,385 (GRCm39)	start gained	probably benign
R8507:Cp	UTSW	3	20,025,193 (GRCm39)	missense	probably damaging	1.00
R8756:Cp	UTSW	3	20,059,736 (GRCm39)	critical splice donor site	probably null
R8826:Cp	UTSW	3	20,039,739 (GRCm39)	missense	probably damaging	1.00
R8875:Cp	UTSW	3	20,027,994 (GRCm39)	missense	possibly damaging	0.94
R9018:Cp	UTSW	3	20,043,316 (GRCm39)	missense	probably damaging	1.00
R9072:Cp	UTSW	3	20,033,158 (GRCm39)	missense	possibly damaging	0.91
R9111:Cp	UTSW	3	20,027,949 (GRCm39)	missense	probably damaging	1.00
R9439:Cp	UTSW	3	20,046,671 (GRCm39)	critical splice acceptor site	probably null
R9443:Cp	UTSW	3	20,033,083 (GRCm39)	missense	possibly damaging	0.84
R9460:Cp	UTSW	3	20,018,566 (GRCm39)	missense
R9733:Cp	UTSW	3	20,033,126 (GRCm39)	missense	probably damaging	1.00
R9748:Cp	UTSW	3	20,043,335 (GRCm39)	missense	possibly damaging	0.71

Predicted Primers

PCR Primer
(F):5'- ACAGGGGAGTATACAGTTCTGATG -3'
(R):5'- AAGCCTGTAAACTATAGTGCTGG -3'

Sequencing Primer
(F):5'- GTATACAGTTCTGATGTCTTTGACC -3'
(R):5'- CCTATGCTCTGTGTATGTGCACATG -3'

Posted On

2016-04-15