Mutagenetix > Incidental Mutation

Incidental Mutation 'R0373:Anapc11'

30636

Institutional Source

Beutler Lab

Gene Symbol

Anapc11

Ensembl Gene

ENSMUSG00000025135

Gene Name

anaphase promoting complex subunit 11

Synonyms

MMRRC Submission

038579-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.871) question?

Stock #

R0373 (G1)

Quality Score

164

Status

Not validated

Chromosome

Chromosomal Location

120598421-120608198 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 120605377 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 69 (V69A)

Ref Sequence

ENSEMBL: ENSMUSP00000097714 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000026128] [ENSMUST00000026129] [ENSMUST00000061309] [ENSMUST00000093140] [ENSMUST00000106194] [ENSMUST00000106195]

AlphaFold

Q9CPX9

Predicted Effect

probably benign
Transcript: ENSMUST00000026128
AA Change: V69A

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000026128
Gene: ENSMUSG00000025135
AA Change: V69A

Domain	Start	End	E-Value	Type
RING	23	76	4.48e-1	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000026129

SMART Domains

Protein: ENSMUSP00000026129
Gene: ENSMUSG00000025137

Domain	Start	End	E-Value	Type
Pfam:CTP_transf_like	26	152	2.6e-32	PFAM
Pfam:CTP_transf_like	235	384	8.9e-15	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000061309

SMART Domains

Protein: ENSMUSP00000050092
Gene: ENSMUSG00000044034

Domain	Start	End	E-Value	Type
Pfam:NPBW	2	107	1.3e-26	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000093140
AA Change: V69A

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000097714
Gene: ENSMUSG00000025135
AA Change: V69A

Domain	Start	End	E-Value	Type
RING	23	76	4.48e-1	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000106194

SMART Domains

Protein: ENSMUSP00000101800
Gene: ENSMUSG00000044034

Domain	Start	End	E-Value	Type
Pfam:NPBW	2	115	5.2e-38	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000106195

SMART Domains

Protein: ENSMUSP00000101801
Gene: ENSMUSG00000044034

Domain	Start	End	E-Value	Type
Pfam:NPBW	5	118	6.9e-48	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000129263

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000148114

Coding Region Coverage

1x: 99.1%
3x: 98.1%
10x: 95.8%
20x: 91.5%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 93 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930579F01Rik	A	T	3: 138,173,582 (GRCm38)	L235Q	probably damaging	Het
Adam6b	T	A	12: 113,490,655 (GRCm38)	V364D	probably benign	Het
Akap13	T	A	7: 75,730,500 (GRCm38)	S2193T	probably damaging	Het
Akap13	T	C	7: 75,609,929 (GRCm38)	L767P	probably benign	Het
Ankmy1	C	T	1: 92,896,190 (GRCm38)	R118Q	probably damaging	Het
Ankrd27	T	C	7: 35,638,053 (GRCm38)	S931P	probably benign	Het
Atp6v1c2	G	A	12: 17,288,168 (GRCm38)	R280C	probably damaging	Het
Bbs10	T	A	10: 111,300,052 (GRCm38)	I342N	probably damaging	Het
Calhm2	T	C	19: 47,132,950 (GRCm38)	D260G	possibly damaging	Het
Camk2a	A	G	18: 60,958,238 (GRCm38)	E264G	probably damaging	Het
Ccdc146	T	A	5: 21,319,545 (GRCm38)	M270L	probably benign	Het
Cdc16	A	G	8: 13,779,264 (GRCm38)	T517A	probably benign	Het
Ces1g	T	C	8: 93,331,193 (GRCm38)	H160R	probably benign	Het
Chst4	T	C	8: 110,030,394 (GRCm38)	N196S	probably damaging	Het
Ciz1	A	T	2: 32,367,467 (GRCm38)	N175Y	probably damaging	Het
Cyb5r4	G	A	9: 87,027,040 (GRCm38)	V57I	probably damaging	Het
Cyth3	A	G	5: 143,684,426 (GRCm38)		probably benign	Het
Def6	A	G	17: 28,220,180 (GRCm38)	E255G	probably damaging	Het
Dhtkd1	T	G	2: 5,911,870 (GRCm38)	Q665P	probably damaging	Het
Dsg3	A	C	18: 20,539,747 (GRCm38)	D825A	probably damaging	Het
Eif3m	T	C	2: 105,005,000 (GRCm38)	T242A	probably benign	Het
Emilin3	A	G	2: 160,909,817 (GRCm38)	F101L	probably benign	Het
Epha7	A	G	4: 28,935,700 (GRCm38)		probably null	Het
Fam205a1	T	C	4: 42,851,161 (GRCm38)	I332V	probably benign	Het
Fbxo45	A	T	16: 32,238,405 (GRCm38)	Y224N	probably damaging	Het
Fhod3	A	T	18: 25,090,104 (GRCm38)	M836L	possibly damaging	Het
Fut4	C	A	9: 14,751,210 (GRCm38)	V263F	probably damaging	Het
Ggt1	C	T	10: 75,579,270 (GRCm38)	T206M	probably benign	Het
Gls	T	C	1: 52,188,699 (GRCm38)	R79G	probably damaging	Het
Gm436	A	T	4: 144,686,220 (GRCm38)	M50K	possibly damaging	Het
Grhl1	T	C	12: 24,581,515 (GRCm38)	S156P	probably benign	Het
Ipo8	C	T	6: 148,775,042 (GRCm38)	S983N	probably benign	Het
Kcna7	C	T	7: 45,409,444 (GRCm38)	A385V	probably damaging	Het
Kpnb1	A	T	11: 97,185,090 (GRCm38)	L40Q	probably damaging	Het
Matn1	A	T	4: 130,950,106 (GRCm38)	S209C	probably damaging	Het
Mcc	A	G	18: 44,475,222 (GRCm38)	I501T	probably benign	Het
Mdp1	A	T	14: 55,659,375 (GRCm38)	F104L	probably damaging	Het
Mib2	A	T	4: 155,656,288 (GRCm38)	N626K	probably damaging	Het
Mrgprh	T	C	17: 12,876,956 (GRCm38)	S28P	possibly damaging	Het
Mup-ps23	T	A	4: 61,856,149 (GRCm38)		noncoding transcript	Het
Myh15	A	G	16: 49,182,959 (GRCm38)	T1794A	possibly damaging	Het
Myo18a	C	G	11: 77,821,042 (GRCm38)	P680A	probably benign	Het
Myom2	G	T	8: 15,098,419 (GRCm38)	D532Y	possibly damaging	Het
Ndufaf5	A	G	2: 140,170,881 (GRCm38)	N57S	probably benign	Het
Nectin3	C	T	16: 46,458,187 (GRCm38)	V282M	probably damaging	Het
Nup188	G	T	2: 30,330,988 (GRCm38)	D997Y	probably damaging	Het
Olfm3	T	C	3: 115,122,805 (GRCm38)	V462A	probably damaging	Het
Olfr1044	A	C	2: 86,171,706 (GRCm38)	F37C	probably damaging	Het
Olfr1225	A	T	2: 89,170,413 (GRCm38)	F266L	probably benign	Het
Olfr305	A	T	7: 86,363,805 (GRCm38)	C177*	probably null	Het
Opcml	A	G	9: 28,813,398 (GRCm38)	H164R	possibly damaging	Het
Pacrg	A	G	17: 10,403,418 (GRCm38)	I209T	probably damaging	Het
Pcf11	T	C	7: 92,661,215 (GRCm38)	M522V	probably benign	Het
Pck1	T	A	2: 173,153,390 (GRCm38)	M1K	probably null	Het
Pcm1	G	T	8: 41,276,111 (GRCm38)	E707*	probably null	Het
Pcsk5	G	A	19: 17,654,849 (GRCm38)	R318W	probably damaging	Het
Phf11d	A	T	14: 59,353,344 (GRCm38)	M188K	possibly damaging	Het
Ppip5k2	A	T	1: 97,740,537 (GRCm38)	C615*	probably null	Het
Prkdc	T	A	16: 15,791,927 (GRCm38)	S3132T	probably damaging	Het
Prl2c5	A	T	13: 13,183,024 (GRCm38)		probably benign	Het
Prpsap2	A	G	11: 61,741,000 (GRCm38)	I177T	possibly damaging	Het
Rad50	A	G	11: 53,650,519 (GRCm38)	S1297P	probably damaging	Het
Rasip1	T	A	7: 45,635,244 (GRCm38)	N678K	possibly damaging	Het
Rubcn	A	G	16: 32,835,980 (GRCm38)	S544P	probably damaging	Het
Rwdd2a	A	T	9: 86,574,400 (GRCm38)	T210S	possibly damaging	Het
Scd2	A	G	19: 44,303,040 (GRCm38)	D306G	probably damaging	Het
Sema3b	T	C	9: 107,602,918 (GRCm38)	N207S	probably benign	Het
Sf3b2	C	T	19: 5,274,824 (GRCm38)	D845N	probably damaging	Het
Sipa1l2	C	A	8: 125,464,410 (GRCm38)	C947F	probably damaging	Het
Slc12a1	A	T	2: 125,226,031 (GRCm38)	T1013S	probably damaging	Het
Slc18a2	A	T	19: 59,287,367 (GRCm38)	I461L	probably benign	Het
Slc1a6	C	A	10: 78,801,922 (GRCm38)	Y427*	probably null	Het
Slc30a4	A	T	2: 122,689,399 (GRCm38)	I231K	probably damaging	Het
Sos1	G	T	17: 80,453,763 (GRCm38)	A168D	probably damaging	Het
Sptb	T	C	12: 76,621,371 (GRCm38)	S651G	probably benign	Het
Stk36	T	C	1: 74,633,620 (GRCm38)	L1007P	probably damaging	Het
Tek	A	T	4: 94,804,341 (GRCm38)	N229Y	probably damaging	Het
Tep1	A	G	14: 50,836,768 (GRCm38)	F1887L	possibly damaging	Het
Tet1	A	T	10: 62,878,209 (GRCm38)	C602*	probably null	Het
Tnfrsf19	A	G	14: 60,972,036 (GRCm38)	S262P	possibly damaging	Het
Trim5	T	C	7: 104,265,684 (GRCm38)	I393V	probably benign	Het
Trpm6	A	G	19: 18,853,587 (GRCm38)	E1272G	probably benign	Het
Ttc21b	A	T	2: 66,188,326 (GRCm38)	Y1246N	probably damaging	Het
Ttll3	T	A	6: 113,398,777 (GRCm38)	L151H	probably damaging	Het
U2surp	C	T	9: 95,484,443 (GRCm38)	V470I	probably benign	Het
Ubr1	A	T	2: 120,946,657 (GRCm38)	Y276N	probably benign	Het
Uggt1	A	G	1: 36,179,670 (GRCm38)	S59P	probably benign	Het
Unc45a	T	C	7: 80,326,344 (GRCm38)	T796A	probably damaging	Het
Unc5b	C	A	10: 60,778,940 (GRCm38)	V193F	possibly damaging	Het
Upp1	G	T	11: 9,129,590 (GRCm38)	M50I	probably benign	Het
Vps18	C	T	2: 119,293,905 (GRCm38)	R438C	probably damaging	Het
Zfp715	T	C	7: 43,299,336 (GRCm38)	Y400C	possibly damaging	Het
Zfp955b	T	C	17: 33,302,522 (GRCm38)	Y322H	probably benign	Het

Other mutations in Anapc11

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01656:Anapc11	APN	11	120,599,347 (GRCm38)	missense	possibly damaging	0.95
IGL02689:Anapc11	APN	11	120,599,342 (GRCm38)	missense	probably benign	0.06
IGL02738:Anapc11	APN	11	120,599,276 (GRCm38)	missense	probably benign	0.07
R0575:Anapc11	UTSW	11	120,599,366 (GRCm38)	missense	probably benign	0.00
R8167:Anapc11	UTSW	11	120,599,286 (GRCm38)	missense	probably benign	0.04
R9480:Anapc11	UTSW	11	120,605,350 (GRCm38)	missense	probably damaging	1.00
R9487:Anapc11	UTSW	11	120,605,424 (GRCm38)	makesense	probably null

Predicted Primers

PCR Primer
(F):5'- GCTGTTGACTAATGTCCCAGAGGTG -3'
(R):5'- AGCAAAGCTCCTTTCAACCTTGTCC -3'

Sequencing Primer
(F):5'- TGCCTGCCTGGCTTGTC -3'
(R):5'- GAAAGCATCCTTGTCCCCG -3'

Posted On

2013-04-24