Mutagenetix > Incidental Mutation

Incidental Mutation 'R5398:Anapc15'

429797

Institutional Source

Beutler Lab

Gene Symbol

Anapc15

Ensembl Gene

ENSMUSG00000030649

Gene Name

anaphase promoting complex C subunit 15

Synonyms

6330414C15Rik, 3200002M19Rik

MMRRC Submission

042969-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R5398 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

101530508-101551056 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 101547810 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Proline to Leucine at position 68 (P68L)

Ref Sequence

ENSEMBL: ENSMUSP00000095839 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000035395] [ENSMUST00000098237] [ENSMUST00000106969] [ENSMUST00000106970] [ENSMUST00000106973] [ENSMUST00000106978] [ENSMUST00000178851] [ENSMUST00000143835] [ENSMUST00000144207] [ENSMUST00000210984] [ENSMUST00000209334]

AlphaFold

P60007

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000032884

Predicted Effect

probably damaging
Transcript: ENSMUST00000035395
AA Change: P77L

PolyPhen 2 Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000040286
Gene: ENSMUSG00000030649
AA Change: P77L

Domain	Start	End	E-Value	Type
Pfam:ANAPC15	21	115	9.5e-44	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000098237
AA Change: P68L

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

SMART Domains

Protein: ENSMUSP00000095839
Gene: ENSMUSG00000030649
AA Change: P68L

Domain	Start	End	E-Value	Type
Pfam:ANAPC15	13	104	6.5e-43	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000106969

SMART Domains

Protein: ENSMUSP00000102582
Gene: ENSMUSG00000078630

Domain	Start	End	E-Value	Type
Pfam:Methyltransf_3	64	226	1.2e-16	PFAM
Pfam:Methyltransf_24	103	212	5.5e-13	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000106970

SMART Domains

Protein: ENSMUSP00000102583
Gene: ENSMUSG00000078630

Domain	Start	End	E-Value	Type
Pfam:Methyltransf_3	65	223	9.1e-19	PFAM
Pfam:Methyltransf_24	103	212	4.5e-13	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000106973
AA Change: P57L

PolyPhen 2 Score 0.968 (Sensitivity: 0.77; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000102586
Gene: ENSMUSG00000030649
AA Change: P57L

Domain	Start	End	E-Value	Type
Pfam:ANAPC15	1	95	2.8e-47	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000106978
AA Change: P68L

PolyPhen 2 Score 0.978 (Sensitivity: 0.76; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000102591
Gene: ENSMUSG00000030649
AA Change: P68L

Domain	Start	End	E-Value	Type
Pfam:ANAPC15	12	106	3.7e-47	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000178851
AA Change: P68L

PolyPhen 2 Score 0.978 (Sensitivity: 0.76; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000136164
Gene: ENSMUSG00000030649
AA Change: P68L

Domain	Start	End	E-Value	Type
Pfam:ANAPC15	12	106	3.7e-47	PFAM

Predicted Effect

possibly damaging
Transcript: ENSMUST00000143835
AA Change: P68L

PolyPhen 2 Score 0.851 (Sensitivity: 0.83; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000120373
Gene: ENSMUSG00000030649
AA Change: P68L

Domain	Start	End	E-Value	Type
Pfam:ANAPC15	12	106	6.8e-47	PFAM

Predicted Effect

possibly damaging
Transcript: ENSMUST00000144207
AA Change: P68L

PolyPhen 2 Score 0.673 (Sensitivity: 0.86; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000114771
Gene: ENSMUSG00000030649
AA Change: P68L

Domain	Start	End	E-Value	Type
Pfam:ANAPC15	12	106	3.7e-47	PFAM

Predicted Effect

possibly damaging
Transcript: ENSMUST00000210984
AA Change: P68L

PolyPhen 2 Score 0.851 (Sensitivity: 0.83; Specificity: 0.93)

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000146286

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000131269

Predicted Effect

probably benign
Transcript: ENSMUST00000209334

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000150018

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000129641

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000137949

Meta Mutation Damage Score

0.0693

Coding Region Coverage

1x: 99.2%
3x: 98.4%
10x: 96.7%
20x: 93.4%

Validation Efficiency

95% (59/62)

Allele List at MGI

Other mutations in this stock

Total: 52 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adam32	A	G	8: 25,362,595 (GRCm39)	L34P	possibly damaging	Het
Adam34	A	C	8: 44,104,278 (GRCm39)	C456G	probably damaging	Het
Atp8b3	T	C	10: 80,365,533 (GRCm39)	D407G	probably damaging	Het
Btbd19	G	A	4: 116,980,957 (GRCm39)	A104V	probably damaging	Het
Chac1	T	G	2: 119,183,725 (GRCm39)	L109R	possibly damaging	Het
Csf2rb	A	G	15: 78,232,820 (GRCm39)	D709G	probably benign	Het
Ddx42	T	A	11: 106,115,724 (GRCm39)	D112E	probably benign	Het
Dnah5	A	G	15: 28,293,872 (GRCm39)	K1326E	probably benign	Het
Dnajc3	T	A	14: 119,209,799 (GRCm39)	Y291*	probably null	Het
Dsg2	T	C	18: 20,712,190 (GRCm39)	F109L	probably benign	Het
Egfl8	T	C	17: 34,833,613 (GRCm39)		probably benign	Het
Emb	T	A	13: 117,404,088 (GRCm39)	I280N	probably damaging	Het
Gcc2	C	A	10: 58,105,329 (GRCm39)	N188K	probably benign	Het
Gdpd4	A	T	7: 97,621,185 (GRCm39)	H166L	probably benign	Het
Gm4787	G	C	12: 81,424,604 (GRCm39)	T518S	probably benign	Het
Gm8741	G	T	17: 35,555,062 (GRCm39)		noncoding transcript	Het
Itga11	A	G	9: 62,653,205 (GRCm39)	T360A	probably benign	Het
Kctd1	A	G	18: 15,195,322 (GRCm39)	S434P	possibly damaging	Het
Kdm5b	G	A	1: 134,549,836 (GRCm39)		probably null	Het
Kif24	T	C	4: 41,394,401 (GRCm39)	E824G	possibly damaging	Het
Lekr1	T	A	3: 65,688,807 (GRCm39)		noncoding transcript	Het
Ociad1	T	A	5: 73,467,755 (GRCm39)	V231E	probably benign	Het
Or1e16	AGCGGTCGTAGGC	AGC	11: 73,286,480 (GRCm39)		probably null	Het
Or1l4	C	A	2: 37,091,330 (GRCm39)	Q26K	probably benign	Het
Pcdhb1	T	C	18: 37,399,207 (GRCm39)	L386P	probably damaging	Het
Pcdhb21	G	T	18: 37,648,772 (GRCm39)	V634L	probably benign	Het
Pcnx2	T	C	8: 126,614,687 (GRCm39)	K255E	possibly damaging	Het
Pex5l	T	A	3: 33,006,639 (GRCm39)	I577F	probably damaging	Het
Ppl	A	G	16: 4,922,786 (GRCm39)	M235T	probably benign	Het
Prl7d1	T	A	13: 27,894,057 (GRCm39)	I171F	probably damaging	Het
Ptprt	T	C	2: 161,769,512 (GRCm39)	Y451C	probably damaging	Het
Ranbp17	A	T	11: 33,424,998 (GRCm39)	Y453N	probably damaging	Het
Rgs16	C	T	1: 153,616,246 (GRCm39)	T11I	probably benign	Het
Rragb	G	A	X: 151,923,550 (GRCm39)	G24E	probably damaging	Het
Scn9a	T	C	2: 66,318,387 (GRCm39)	Y1479C	probably damaging	Het
Slc35f4	T	C	14: 49,536,304 (GRCm39)	T294A	probably damaging	Het
Slc39a6	A	T	18: 24,730,936 (GRCm39)	I61N	probably damaging	Het
Sntb1	C	G	15: 55,506,191 (GRCm39)	G461R	probably damaging	Het
Sp110	C	G	1: 85,516,839 (GRCm39)	E219D	probably damaging	Het
Spink12	A	G	18: 44,240,794 (GRCm39)	D60G	possibly damaging	Het
Sppl2a	T	C	2: 126,761,638 (GRCm39)	I289V	probably benign	Het
Srebf2	A	G	15: 82,055,443 (GRCm39)	T176A	probably damaging	Het
Syce1l	T	C	8: 114,379,145 (GRCm39)	L91S	probably damaging	Het
Tchhl1	T	C	3: 93,378,910 (GRCm39)	I538T	probably benign	Het
Tcte1	C	T	17: 45,850,752 (GRCm39)	Q343*	probably null	Het
Tdpoz2	T	G	3: 93,559,441 (GRCm39)	D177A	probably damaging	Het
Thada	T	G	17: 84,733,614 (GRCm39)	D1011A	probably benign	Het
Tnn	T	A	1: 159,975,092 (GRCm39)	M112L	probably benign	Het
Traf1	T	C	2: 34,835,447 (GRCm39)	E325G	probably damaging	Het
Tyw1	T	C	5: 130,305,998 (GRCm39)		probably benign	Het
Vmn2r111	C	A	17: 22,792,252 (GRCm39)	M1I	probably null	Het
Wdr11	C	T	7: 129,232,956 (GRCm39)	T996M	probably damaging	Het

Other mutations in Anapc15

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
R0426:Anapc15	UTSW	7	101,547,240 (GRCm39)	missense	probably benign	0.10
R0513:Anapc15	UTSW	7	101,547,747 (GRCm39)	splice site	probably benign
R4625:Anapc15	UTSW	7	101,550,239 (GRCm39)	unclassified	probably benign
R4846:Anapc15	UTSW	7	101,546,974 (GRCm39)	missense	probably benign	0.05
R5318:Anapc15	UTSW	7	101,547,810 (GRCm39)	missense	probably damaging	1.00
R5334:Anapc15	UTSW	7	101,547,810 (GRCm39)	missense	probably damaging	1.00
R5337:Anapc15	UTSW	7	101,547,810 (GRCm39)	missense	probably damaging	1.00
R5396:Anapc15	UTSW	7	101,547,810 (GRCm39)	missense	probably damaging	1.00
R5399:Anapc15	UTSW	7	101,547,810 (GRCm39)	missense	probably damaging	1.00
R5427:Anapc15	UTSW	7	101,547,810 (GRCm39)	missense	probably damaging	1.00
R7719:Anapc15	UTSW	7	101,550,236 (GRCm39)	missense	unknown
R7903:Anapc15	UTSW	7	101,547,193 (GRCm39)	missense	probably benign	0.07
Z1177:Anapc15	UTSW	7	101,550,246 (GRCm39)	missense	unknown

Predicted Primers

PCR Primer
(F):5'- AGATTGCATCTTCCTGAGAACTG -3'
(R):5'- AACCTTGCCTGCCTTGAGTC -3'

Sequencing Primer
(F):5'- CATTTGGGGTCTCTTCAG -3'
(R):5'- TGCTGCATGACCTGAAGG -3'

Posted On

2016-09-06