Mutagenetix > Incidental Mutation

Incidental Mutation 'R2034:Anapc1'

224285

Institutional Source

Beutler Lab

Gene Symbol

Anapc1

Ensembl Gene

ENSMUSG00000014355

Gene Name

anaphase promoting complex subunit 1

Synonyms

Apc1, tsg24, Mcpr, 2610021O03Rik

MMRRC Submission

040041-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R2034 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

128452024-128529311 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 128490378 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glycine at position 1018 (D1018G)

Ref Sequence

ENSEMBL: ENSMUSP00000014499 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000014499] [ENSMUST00000110333]

AlphaFold

P53995

Predicted Effect

possibly damaging
Transcript: ENSMUST00000014499
AA Change: D1018G

PolyPhen 2 Score 0.918 (Sensitivity: 0.81; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000014499
Gene: ENSMUSG00000014355
AA Change: D1018G

Domain	Start	End	E-Value	Type
Pfam:ANAPC1	150	214	1.7e-13	PFAM
low complexity region	323	345	N/A	INTRINSIC
low complexity region	1404	1415	N/A	INTRINSIC
Pfam:PC_rep	1467	1501	8.3e-8	PFAM
low complexity region	1516	1528	N/A	INTRINSIC
low complexity region	1924	1936	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000110333
AA Change: D1018G

PolyPhen 2 Score 0.023 (Sensitivity: 0.95; Specificity: 0.81)

SMART Domains

Protein: ENSMUSP00000105962
Gene: ENSMUSG00000014355
AA Change: D1018G

Domain	Start	End	E-Value	Type
Pfam:Apc1	149	227	1.7e-22	PFAM
low complexity region	323	345	N/A	INTRINSIC

Meta Mutation Damage Score

0.1458

Coding Region Coverage

1x: 99.3%
3x: 98.7%
10x: 97.3%
20x: 95.2%

Validation Efficiency

100% (71/71)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a subunit of the anaphase-promoting complex. This complex is an E3 ubiquitin ligase that regulates progression through the metaphase to anaphase portion of the cell cycle by ubiquitinating proteins which targets them for degradation. [provided by RefSeq, Dec 2011]

Allele List at MGI

Other mutations in this stock

Total: 70 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2810408A11Rik	T	C	11: 69,791,385 (GRCm39)	I65V	probably benign	Het
Abca13	A	G	11: 9,242,628 (GRCm39)	N1497S	possibly damaging	Het
Afmid	C	A	11: 117,726,061 (GRCm39)	N184K	probably benign	Het
Ampd2	A	T	3: 107,984,679 (GRCm39)	I459N	possibly damaging	Het
Ano9	T	A	7: 140,688,048 (GRCm39)	I223F	probably damaging	Het
B3gnt6	A	G	7: 97,843,225 (GRCm39)	L245P	possibly damaging	Het
Bag6	G	A	17: 35,363,668 (GRCm39)	R784Q	probably damaging	Het
Brca1	C	G	11: 101,380,675 (GRCm39)	S1786T	probably benign	Het
Btbd3	T	G	2: 138,120,903 (GRCm39)	S26A	probably benign	Het
Cacna1d	C	A	14: 29,811,820 (GRCm39)	V1277L	probably damaging	Het
Casp12	C	T	9: 5,346,491 (GRCm39)	T6I	probably damaging	Het
Col7a1	T	C	9: 108,792,075 (GRCm39)	V1262A	unknown	Het
Crh	C	A	3: 19,748,262 (GRCm39)	G127C	probably damaging	Het
D5Ertd579e	A	T	5: 36,770,882 (GRCm39)	L64*	probably null	Het
Dab1	C	T	4: 104,588,948 (GRCm39)	A524V	probably benign	Het
Ddc	T	A	11: 11,830,456 (GRCm39)	I63L	probably benign	Het
Eif3a	C	T	19: 60,750,568 (GRCm39)		probably benign	Het
Fsip2	T	A	2: 82,819,838 (GRCm39)	N5190K	probably benign	Het
Gm5420	A	G	10: 21,567,512 (GRCm39)		noncoding transcript	Het
Grb14	A	G	2: 64,753,873 (GRCm39)		probably benign	Het
Gsap	A	T	5: 21,475,593 (GRCm39)	I545F	probably damaging	Het
Hectd1	A	T	12: 51,803,899 (GRCm39)		probably null	Het
Helz2	G	A	2: 180,874,371 (GRCm39)	P2041L	probably damaging	Het
Herc1	G	A	9: 66,349,254 (GRCm39)	A2038T	probably benign	Het
Il10	C	A	1: 130,951,922 (GRCm39)	Q152K	probably benign	Het
Klrg1	A	G	6: 122,256,596 (GRCm39)		probably null	Het
Lrig2	T	C	3: 104,401,408 (GRCm39)	T160A	probably benign	Het
Mmd2	A	T	5: 142,560,939 (GRCm39)		probably null	Het
Mmp2	C	T	8: 93,563,540 (GRCm39)	S338F	probably damaging	Het
Nalcn	T	G	14: 123,521,015 (GRCm39)	D1630A	probably benign	Het
Ncoa2	T	C	1: 13,235,207 (GRCm39)	S909G	probably benign	Het
Neb	A	T	2: 52,170,623 (GRCm39)	M1683K	possibly damaging	Het
Nfe2l3	A	G	6: 51,435,350 (GRCm39)	I637V	possibly damaging	Het
Npw	G	A	17: 24,877,242 (GRCm39)	S53F	probably damaging	Het
Nrbf2	A	T	10: 67,111,343 (GRCm39)		probably benign	Het
Nrros	C	T	16: 31,962,975 (GRCm39)	W311*	probably null	Het
Nup188	T	A	2: 30,200,097 (GRCm39)		probably benign	Het
Or4k15c	T	C	14: 50,321,440 (GRCm39)	M233V	probably benign	Het
Or5b21	T	A	19: 12,839,151 (GRCm39)	M4K	possibly damaging	Het
Parp4	A	T	14: 56,871,720 (GRCm39)	I1133F	probably damaging	Het
Pcdhb11	T	C	18: 37,555,546 (GRCm39)	V292A	probably benign	Het
Pcnx2	A	G	8: 126,545,406 (GRCm39)		probably null	Het
Phf2	A	G	13: 48,971,206 (GRCm39)	S489P	unknown	Het
Pik3r5	T	A	11: 68,384,403 (GRCm39)	N598K	probably damaging	Het
Pikfyve	A	T	1: 65,261,516 (GRCm39)	E432D	probably damaging	Het
Pink1	T	C	4: 138,045,343 (GRCm39)	I274V	possibly damaging	Het
Pkhd1	G	A	1: 20,270,893 (GRCm39)	T3220I	probably damaging	Het
Plxna2	A	G	1: 194,462,902 (GRCm39)	I890V	probably benign	Het
Pomgnt1	T	C	4: 116,015,124 (GRCm39)	V492A	possibly damaging	Het
Prp2	G	T	6: 132,572,947 (GRCm39)		probably null	Het
Rabl6	T	C	2: 25,475,444 (GRCm39)	E543G	possibly damaging	Het
Rgp1	T	A	4: 43,581,605 (GRCm39)		probably null	Het
Rps6kb2	T	C	19: 4,211,106 (GRCm39)	T140A	probably damaging	Het
S100a11	T	C	3: 93,433,429 (GRCm39)	I91T	probably benign	Het
Serpine2	A	G	1: 79,774,569 (GRCm39)	L230P	probably damaging	Het
Sh3tc2	A	G	18: 62,120,737 (GRCm39)	D370G	probably damaging	Het
Sim2	A	C	16: 93,886,801 (GRCm39)	I43L	probably damaging	Het
Skp2	C	A	15: 9,113,786 (GRCm39)	G376C	probably damaging	Het
Slc14a2	A	G	18: 78,226,798 (GRCm39)	L419P	probably damaging	Het
Srgap1	C	T	10: 121,628,651 (GRCm39)	E817K	probably damaging	Het
Stag3	A	G	5: 138,296,263 (GRCm39)	E442G	possibly damaging	Het
Sulf1	A	G	1: 12,890,645 (GRCm39)	N361S	probably damaging	Het
Tmco6	A	G	18: 36,870,909 (GRCm39)		probably null	Het
Tmem104	T	A	11: 115,134,373 (GRCm39)	I303N	probably benign	Het
Ttll6	G	T	11: 96,026,352 (GRCm39)	D86Y	probably damaging	Het
Tut4	C	T	4: 108,369,392 (GRCm39)	R651W	probably damaging	Het
Vmn1r120	T	G	7: 20,786,883 (GRCm39)	E276A	possibly damaging	Het
Vmn1r64	A	G	7: 5,886,988 (GRCm39)	M185T	probably benign	Het
Vmn2r85	A	T	10: 130,262,242 (GRCm39)		probably benign	Het
Vwa3a	A	T	7: 120,381,868 (GRCm39)	K568*	probably null	Het

Other mutations in Anapc1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00232:Anapc1	APN	2	128,487,050 (GRCm39)	splice site	probably benign
IGL00704:Anapc1	APN	2	128,505,904 (GRCm39)	missense	possibly damaging	0.48
IGL01023:Anapc1	APN	2	128,471,649 (GRCm39)	missense	probably damaging	1.00
IGL01432:Anapc1	APN	2	128,475,328 (GRCm39)	missense	probably damaging	1.00
IGL01549:Anapc1	APN	2	128,495,090 (GRCm39)	missense	probably benign
IGL02089:Anapc1	APN	2	128,505,853 (GRCm39)	missense	probably damaging	1.00
IGL02275:Anapc1	APN	2	128,501,772 (GRCm39)	missense	probably benign
IGL02570:Anapc1	APN	2	128,487,120 (GRCm39)	missense	probably damaging	1.00
IGL02597:Anapc1	APN	2	128,465,851 (GRCm39)	missense	probably benign	0.02
IGL02726:Anapc1	APN	2	128,501,705 (GRCm39)	missense	probably benign	0.05
IGL03265:Anapc1	APN	2	128,469,117 (GRCm39)	missense	probably damaging	1.00
IGL03304:Anapc1	APN	2	128,469,033 (GRCm39)	splice site	probably benign
IGL03327:Anapc1	APN	2	128,465,854 (GRCm39)	missense	probably benign	0.00
R0023:Anapc1	UTSW	2	128,520,138 (GRCm39)	missense	probably damaging	0.99
R0027:Anapc1	UTSW	2	128,483,431 (GRCm39)	missense	possibly damaging	0.96
R0027:Anapc1	UTSW	2	128,483,431 (GRCm39)	missense	possibly damaging	0.96
R0084:Anapc1	UTSW	2	128,465,886 (GRCm39)	splice site	probably benign
R0103:Anapc1	UTSW	2	128,522,372 (GRCm39)	splice site	probably benign
R0103:Anapc1	UTSW	2	128,522,372 (GRCm39)	splice site	probably benign
R0109:Anapc1	UTSW	2	128,476,613 (GRCm39)	missense	probably damaging	1.00
R0109:Anapc1	UTSW	2	128,476,613 (GRCm39)	missense	probably damaging	1.00
R0241:Anapc1	UTSW	2	128,470,549 (GRCm39)	missense	possibly damaging	0.89
R0241:Anapc1	UTSW	2	128,470,549 (GRCm39)	missense	possibly damaging	0.89
R0255:Anapc1	UTSW	2	128,476,631 (GRCm39)	missense	probably damaging	0.99
R0377:Anapc1	UTSW	2	128,483,260 (GRCm39)	critical splice donor site	probably null
R0467:Anapc1	UTSW	2	128,510,963 (GRCm39)	missense	probably damaging	0.99
R0514:Anapc1	UTSW	2	128,474,575 (GRCm39)	missense	probably damaging	0.99
R0591:Anapc1	UTSW	2	128,461,252 (GRCm39)	missense	probably benign	0.17
R0919:Anapc1	UTSW	2	128,459,651 (GRCm39)	missense	probably benign
R1175:Anapc1	UTSW	2	128,522,108 (GRCm39)	missense	probably damaging	1.00
R1473:Anapc1	UTSW	2	128,459,617 (GRCm39)	missense	possibly damaging	0.88
R1547:Anapc1	UTSW	2	128,459,476 (GRCm39)	missense	probably benign	0.44
R1556:Anapc1	UTSW	2	128,466,819 (GRCm39)	missense	probably benign	0.00
R1567:Anapc1	UTSW	2	128,459,636 (GRCm39)	missense	probably damaging	1.00
R1635:Anapc1	UTSW	2	128,470,452 (GRCm39)	missense	probably damaging	1.00
R1645:Anapc1	UTSW	2	128,500,166 (GRCm39)	critical splice donor site	probably null
R1677:Anapc1	UTSW	2	128,518,128 (GRCm39)	missense	probably benign	0.09
R1854:Anapc1	UTSW	2	128,517,810 (GRCm39)	missense	probably damaging	1.00
R1856:Anapc1	UTSW	2	128,501,708 (GRCm39)	missense	probably damaging	0.96
R1959:Anapc1	UTSW	2	128,475,335 (GRCm39)	missense	probably benign	0.36
R1984:Anapc1	UTSW	2	128,511,608 (GRCm39)	missense	possibly damaging	0.85
R2283:Anapc1	UTSW	2	128,484,468 (GRCm39)	missense	probably benign	0.23
R2928:Anapc1	UTSW	2	128,522,057 (GRCm39)	missense	probably damaging	1.00
R3547:Anapc1	UTSW	2	128,484,602 (GRCm39)	missense	possibly damaging	0.58
R3904:Anapc1	UTSW	2	128,484,439 (GRCm39)	missense	probably damaging	1.00
R4156:Anapc1	UTSW	2	128,469,149 (GRCm39)	intron	probably benign
R4359:Anapc1	UTSW	2	128,465,476 (GRCm39)	missense	possibly damaging	0.64
R4392:Anapc1	UTSW	2	128,518,169 (GRCm39)	critical splice acceptor site	probably null
R4574:Anapc1	UTSW	2	128,469,115 (GRCm39)	missense	probably damaging	1.00
R4682:Anapc1	UTSW	2	128,505,925 (GRCm39)	missense	probably benign	0.05
R4770:Anapc1	UTSW	2	128,527,980 (GRCm39)	splice site	probably benign
R4824:Anapc1	UTSW	2	128,470,610 (GRCm39)	missense	possibly damaging	0.69
R4960:Anapc1	UTSW	2	128,526,514 (GRCm39)	missense	probably benign	0.23
R5016:Anapc1	UTSW	2	128,449,095 (GRCm39)	unclassified	probably benign
R5063:Anapc1	UTSW	2	128,471,469 (GRCm39)	missense	possibly damaging	0.48
R5128:Anapc1	UTSW	2	128,501,837 (GRCm39)	missense	probably benign
R5271:Anapc1	UTSW	2	128,527,905 (GRCm39)	nonsense	probably null
R5363:Anapc1	UTSW	2	128,492,114 (GRCm39)	critical splice donor site	probably null
R5469:Anapc1	UTSW	2	128,517,621 (GRCm39)	nonsense	probably null
R5473:Anapc1	UTSW	2	128,449,115 (GRCm39)	unclassified	probably benign
R5559:Anapc1	UTSW	2	128,522,354 (GRCm39)	nonsense	probably null
R5631:Anapc1	UTSW	2	128,499,137 (GRCm39)	missense	possibly damaging	0.85
R5747:Anapc1	UTSW	2	128,466,836 (GRCm39)	missense	probably benign	0.19
R5840:Anapc1	UTSW	2	128,448,957 (GRCm39)	unclassified	probably benign
R6226:Anapc1	UTSW	2	128,492,292 (GRCm39)	missense	probably damaging	1.00
R6526:Anapc1	UTSW	2	128,514,055 (GRCm39)	nonsense	probably null
R6561:Anapc1	UTSW	2	128,505,919 (GRCm39)	missense	probably damaging	0.98
R6743:Anapc1	UTSW	2	128,526,454 (GRCm39)	nonsense	probably null
R6799:Anapc1	UTSW	2	128,501,657 (GRCm39)	missense	probably null	0.38
R6887:Anapc1	UTSW	2	128,501,688 (GRCm39)	missense	possibly damaging	0.91
R6978:Anapc1	UTSW	2	128,511,820 (GRCm39)	missense	probably benign	0.06
R7011:Anapc1	UTSW	2	128,490,601 (GRCm39)	splice site	probably null
R7041:Anapc1	UTSW	2	128,470,576 (GRCm39)	missense	possibly damaging	0.88
R7047:Anapc1	UTSW	2	128,457,350 (GRCm39)	missense	probably damaging	0.96
R7074:Anapc1	UTSW	2	128,520,194 (GRCm39)	missense	probably damaging	1.00
R7109:Anapc1	UTSW	2	128,516,522 (GRCm39)	missense	probably benign	0.33
R7123:Anapc1	UTSW	2	128,454,930 (GRCm39)	missense	probably damaging	1.00
R7309:Anapc1	UTSW	2	128,516,604 (GRCm39)	missense	probably damaging	0.96
R7693:Anapc1	UTSW	2	128,483,457 (GRCm39)	missense	possibly damaging	0.86
R7839:Anapc1	UTSW	2	128,526,528 (GRCm39)	missense	probably damaging	0.99
R7847:Anapc1	UTSW	2	128,511,828 (GRCm39)	missense	possibly damaging	0.93
R7960:Anapc1	UTSW	2	128,516,513 (GRCm39)	missense	probably damaging	1.00
R8061:Anapc1	UTSW	2	128,490,408 (GRCm39)	missense	probably damaging	0.98
R8127:Anapc1	UTSW	2	128,474,547 (GRCm39)	missense	probably damaging	0.96
R8228:Anapc1	UTSW	2	128,461,837 (GRCm39)	nonsense	probably null
R8402:Anapc1	UTSW	2	128,472,148 (GRCm39)	missense	probably benign	0.02
R8422:Anapc1	UTSW	2	128,517,757 (GRCm39)	missense	probably benign
R8425:Anapc1	UTSW	2	128,511,788 (GRCm39)	missense	probably damaging	1.00
R8469:Anapc1	UTSW	2	128,500,264 (GRCm39)	splice site	probably null
R8553:Anapc1	UTSW	2	128,461,833 (GRCm39)	missense	possibly damaging	0.80
R8688:Anapc1	UTSW	2	128,527,748 (GRCm39)	missense	probably benign	0.19
R8699:Anapc1	UTSW	2	128,483,373 (GRCm39)	missense	probably damaging	1.00
R8719:Anapc1	UTSW	2	128,483,369 (GRCm39)	missense	probably damaging	1.00
R8775:Anapc1	UTSW	2	128,499,093 (GRCm39)	missense	possibly damaging	0.92
R8775-TAIL:Anapc1	UTSW	2	128,499,093 (GRCm39)	missense	possibly damaging	0.92
R8806:Anapc1	UTSW	2	128,464,333 (GRCm39)	missense	possibly damaging	0.67
R8973:Anapc1	UTSW	2	128,505,952 (GRCm39)	missense	probably damaging	0.99
R8977:Anapc1	UTSW	2	128,483,322 (GRCm39)	missense	probably damaging	1.00
R9000:Anapc1	UTSW	2	128,476,628 (GRCm39)	missense	probably damaging	1.00
R9080:Anapc1	UTSW	2	128,464,426 (GRCm39)	missense	possibly damaging	0.82
R9203:Anapc1	UTSW	2	128,465,422 (GRCm39)	missense	possibly damaging	0.66
R9314:Anapc1	UTSW	2	128,464,420 (GRCm39)	missense	possibly damaging	0.69
R9386:Anapc1	UTSW	2	128,459,642 (GRCm39)	missense	probably benign	0.08
R9415:Anapc1	UTSW	2	128,476,598 (GRCm39)	missense	probably benign
R9436:Anapc1	UTSW	2	128,518,045 (GRCm39)	missense	probably benign
R9516:Anapc1	UTSW	2	128,517,633 (GRCm39)	missense	possibly damaging	0.77
R9563:Anapc1	UTSW	2	128,505,980 (GRCm39)	nonsense	probably null
R9572:Anapc1	UTSW	2	128,505,976 (GRCm39)	missense	probably benign
R9757:Anapc1	UTSW	2	128,517,676 (GRCm39)	missense	probably damaging	1.00
R9766:Anapc1	UTSW	2	128,500,221 (GRCm39)	missense	probably damaging	1.00
X0066:Anapc1	UTSW	2	128,516,621 (GRCm39)	missense	probably benign	0.10

Predicted Primers

PCR Primer
(F):5'- GGACAGGAGATGAACTATTTTACCTG -3'
(R):5'- GTGCAGAAGAGCTCAGCTTG -3'

Sequencing Primer
(F):5'- ACCTGTTTTCCTTTTCTTCAATGAAC -3'
(R):5'- AGCTCAGCTTGTATGACAGC -3'

Posted On

2014-08-25