Mutagenetix > Incidental Mutation

Incidental Mutation 'R8699:Anapc1'

668909

Institutional Source

Beutler Lab

Gene Symbol

Anapc1

Ensembl Gene

ENSMUSG00000014355

Gene Name

anaphase promoting complex subunit 1

Synonyms

Apc1, tsg24, Mcpr, 2610021O03Rik

MMRRC Submission

068553-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R8699 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

128452024-128529311 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 128483373 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Alanine at position 1241 (T1241A)

Ref Sequence

ENSEMBL: ENSMUSP00000014499 (fasta)

Gene Model

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

AlphaFold

P53995

Predicted Effect

probably damaging
Transcript: ENSMUST00000014499
AA Change: T1241A

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000014499
Gene: ENSMUSG00000014355
AA Change: T1241A

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

SMART Domains

Protein: ENSMUSP00000105962
Gene: ENSMUSG00000014355

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

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.7%
20x: 99.1%

Validation Efficiency

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: 79 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4933430I17Rik	T	C	4: 62,450,515 (GRCm39)	W30R	probably damaging	Het
Abca3	A	G	17: 24,627,199 (GRCm39)	D1555G	probably benign	Het
Ano5	G	A	7: 51,243,519 (GRCm39)	V881I	probably benign	Het
Appl1	G	A	14: 26,662,212 (GRCm39)	S490L	probably benign	Het
Asxl3	A	G	18: 22,567,664 (GRCm39)	T81A	probably benign	Het
Bclaf1	T	C	10: 20,209,184 (GRCm39)	S754P	possibly damaging	Het
Bicra	G	T	7: 15,723,113 (GRCm39)	Q135K	probably benign	Het
Cad	T	C	5: 31,233,605 (GRCm39)	V1951A	possibly damaging	Het
Cadm3	T	A	1: 173,168,683 (GRCm39)	Y295F	probably damaging	Het
Ccnt1	A	G	15: 98,462,995 (GRCm39)	I59T	probably damaging	Het
Ccr6	C	T	17: 8,475,398 (GRCm39)	T201M	probably benign	Het
Cd5	A	G	19: 10,702,556 (GRCm39)	F209S	possibly damaging	Het
Cep126	A	C	9: 8,087,362 (GRCm39)	D1017E	probably damaging	Het
Cfap298	T	C	16: 90,727,945 (GRCm39)	K82E	probably benign	Het
Cntnap4	A	T	8: 113,484,228 (GRCm39)	D427V	probably damaging	Het
Col4a4	T	A	1: 82,433,455 (GRCm39)	N1496I	unknown	Het
Crybg3	A	G	16: 59,375,291 (GRCm39)	Y274H	probably damaging	Het
Cubn	C	A	2: 13,388,770 (GRCm39)	S1479I	probably damaging	Het
Diras2	A	T	13: 52,662,143 (GRCm39)	C55S	probably damaging	Het
Dleu7	G	A	14: 62,530,279 (GRCm39)	R41C	probably benign	Het
Dync2i1	T	C	12: 116,171,321 (GRCm39)	T972A	probably benign	Het
Efcab3	A	G	11: 104,672,072 (GRCm39)	T1464A	probably benign	Het
Exo5	A	G	4: 120,779,193 (GRCm39)	I224T	probably damaging	Het
Fcho1	T	C	8: 72,162,277 (GRCm39)	I774V	possibly damaging	Het
Gclm	T	G	3: 122,059,972 (GRCm39)	S251A	possibly damaging	Het
Gm13889	T	C	2: 93,787,327 (GRCm39)	Q49R	unknown	Het
Gm35315	T	A	5: 110,228,392 (GRCm39)	H18L	probably benign	Het
Gm9949	G	A	18: 62,317,043 (GRCm39)	G65R	unknown	Het
Gpr153	C	T	4: 152,363,558 (GRCm39)		probably benign	Het
Gria4	C	A	9: 4,424,347 (GRCm39)	K839N	probably damaging	Het
Gria4	T	G	9: 4,424,351 (GRCm39)	Y838S	probably damaging	Het
Hrh3	A	G	2: 179,743,149 (GRCm39)	W160R	probably damaging	Het
Htr4	G	A	18: 62,570,763 (GRCm39)	A273T	probably damaging	Het
Lig3	G	T	11: 82,685,376 (GRCm39)	C599F	probably damaging	Het
Lrp1b	A	T	2: 41,172,207 (GRCm39)	V1594E		Het
Map3k10	A	T	7: 27,367,780 (GRCm39)	V286D	probably damaging	Het
Map4k4	T	A	1: 40,015,910 (GRCm39)	V117E	unknown	Het
Mdga1	C	T	17: 30,061,348 (GRCm39)	V548M	possibly damaging	Het
Mms22l	A	T	4: 24,507,363 (GRCm39)	L248F	possibly damaging	Het
Ncaph	T	C	2: 126,963,096 (GRCm39)	D379G	possibly damaging	Het
Neb	A	G	2: 52,037,246 (GRCm39)	V7064A	probably benign	Het
Neb	G	A	2: 52,102,563 (GRCm39)	T4570M	probably benign	Het
Npy5r	G	T	8: 67,134,274 (GRCm39)	T173K	probably damaging	Het
Or52a33	A	T	7: 103,288,822 (GRCm39)	I175N	probably damaging	Het
Or5b94	A	G	19: 12,652,246 (GRCm39)	M226V	probably benign	Het
Or5b97	A	T	19: 12,878,828 (GRCm39)	F105L	possibly damaging	Het
Or5g25	A	T	2: 85,478,330 (GRCm39)	C112S	possibly damaging	Het
Or8u10	A	T	2: 85,915,518 (GRCm39)	I201N	probably damaging	Het
Oxsm	A	G	14: 16,242,631 (GRCm38)	I46T	possibly damaging	Het
Pcdha1	A	T	18: 37,064,076 (GRCm39)	I247F	probably benign	Het
Pcdhgb6	A	T	18: 37,875,975 (GRCm39)	I228L	probably benign	Het
Peg10	T	TCCA	6: 4,756,451 (GRCm39)		probably benign	Het
Ppp1r9a	A	G	6: 5,115,474 (GRCm39)	S866G	probably benign	Het
Ppp6r3	T	A	19: 3,546,587 (GRCm39)	S304C	probably damaging	Het
Pramel11	A	T	4: 143,623,762 (GRCm39)	N137K	probably benign	Het
Ptprd	A	T	4: 75,959,629 (GRCm39)	F279I	probably benign	Het
Repin1	G	T	6: 48,574,279 (GRCm39)	E403*	probably null	Het
Rest	G	A	5: 77,429,389 (GRCm39)	G603R	probably benign	Het
Rgs17	A	T	10: 5,868,194 (GRCm39)	L9M	probably benign	Het
Rtp1	A	G	16: 23,250,133 (GRCm39)	Y166C	probably damaging	Het
Sec24b	C	A	3: 129,798,653 (GRCm39)	R572I	probably damaging	Het
Setd1a	G	T	7: 127,385,774 (GRCm39)	R827L	possibly damaging	Het
Sh3tc1	T	C	5: 35,859,235 (GRCm39)	Y1091C	probably damaging	Het
Sorbs1	G	C	19: 40,365,244 (GRCm39)	R180G	probably benign	Het
Stat4	T	A	1: 52,111,096 (GRCm39)	M181K	probably benign	Het
Stk16	A	G	1: 75,188,682 (GRCm39)	E67G	probably benign	Het
Supv3l1	A	G	10: 62,268,234 (GRCm39)	V537A	possibly damaging	Het
Tmc8	A	G	11: 117,674,361 (GRCm39)	E101G	possibly damaging	Het
Tmem106a	A	T	11: 101,473,120 (GRCm39)		probably benign	Het
Tpr	T	A	1: 150,293,772 (GRCm39)	I922N	probably damaging	Het
Uaca	G	T	9: 60,778,347 (GRCm39)	L911F	probably damaging	Het
Ubn1	A	T	16: 4,881,567 (GRCm39)	I200L	possibly damaging	Het
Ush2a	A	G	1: 188,643,574 (GRCm39)	D4312G	probably damaging	Het
Virma	A	T	4: 11,528,678 (GRCm39)	Y1255F	probably benign	Het
Vmn1r170	C	T	7: 23,306,080 (GRCm39)	Q161*	probably null	Het
Vmn1r175	G	T	7: 23,508,234 (GRCm39)	A131D	probably benign	Het
Vmn1r52	T	A	6: 90,155,742 (GRCm39)	N15K	probably benign	Het
Wdr46	T	A	17: 34,167,826 (GRCm39)	I513N	probably damaging	Het
Zfp788	A	G	7: 41,297,840 (GRCm39)	N159D	probably benign	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
R2034:Anapc1	UTSW	2	128,490,378 (GRCm39)	missense	possibly damaging	0.92
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
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'- TGGCCCCATTACTTGTGAGC -3'
(R):5'- CTGGCACCGTTCTACTTCAAATG -3'

Sequencing Primer
(F):5'- GCCCCATTACTTGTGAGCTTTGC -3'
(R):5'- GCCAGACTACATGATTGTGAGTTTC -3'

Posted On

2021-04-30