Mutagenetix > Incidental Mutation

Incidental Mutation 'R2104:Ankrd16'

230752

Institutional Source

Beutler Lab

Gene Symbol

Ankrd16

Ensembl Gene

ENSMUSG00000047909

Gene Name

ankyrin repeat domain 16

Synonyms

2810455F06Rik, D430029B21Rik

MMRRC Submission

040108-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.101) question?

Stock #

R2104 (G1)

Quality Score

219

Status

Validated

Chromosome

Chromosomal Location

11777876-11790329 bp(+) (GRCm38)

Type of Mutation

intron

DNA Base Change (assembly)

A to G at 11779900 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000115525 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000056108] [ENSMUST00000071564] [ENSMUST00000130186] [ENSMUST00000133664] [ENSMUST00000156067]

AlphaFold

A2AS55

Predicted Effect

probably benign
Transcript: ENSMUST00000056108

SMART Domains

Protein: ENSMUSP00000052056
Gene: ENSMUSG00000047909

Domain	Start	End	E-Value	Type
ANK	36	66	1.15e0	SMART
ANK	70	99	7.95e-4	SMART
ANK	103	132	1.59e-3	SMART
ANK	136	167	1.74e0	SMART
ANK	170	200	7.71e-2	SMART
ANK	204	233	5.01e-1	SMART
ANK	238	268	1.37e2	SMART
ANK	273	302	7.53e-5	SMART
ANK	306	336	4.07e-1	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000071564

SMART Domains

Protein: ENSMUSP00000071495
Gene: ENSMUSG00000058594

Domain	Start	End	E-Value	Type
FBOX	213	256	3.94e-3	SMART
Pfam:UvrD-helicase	626	692	8e-10	PFAM
Pfam:UvrD_C	862	935	1.7e-12	PFAM
Pfam:UvrD_C_2	867	931	1.6e-12	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000123717

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000125024

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000126543

Predicted Effect

probably benign
Transcript: ENSMUST00000128774

SMART Domains

Protein: ENSMUSP00000121218
Gene: ENSMUSG00000047909

Domain	Start	End	E-Value	Type
Pfam:Ank_4	10	65	1e-6	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000130186

SMART Domains

Protein: ENSMUSP00000141685
Gene: ENSMUSG00000047909

Domain	Start	End	E-Value	Type
ANK	36	66	7.2e-3	SMART
Pfam:Ank	72	90	7.9e-3	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000133664

SMART Domains

Protein: ENSMUSP00000115226
Gene: ENSMUSG00000047909

Domain	Start	End	E-Value	Type
Pfam:Ank	1	29	1.5e-3	PFAM
Pfam:Ank_4	1	51	7.3e-11	PFAM
Pfam:Ank_2	1	56	8.9e-11	PFAM
Pfam:Ank_5	18	56	1.8e-6	PFAM
Pfam:Ank	30	55	3e-5	PFAM
Pfam:Ank_3	30	55	2.7e-3	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000145547

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000148498

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000150213

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000194100

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000150320

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000151402

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000192171

Predicted Effect

probably benign
Transcript: ENSMUST00000156067

SMART Domains

Protein: ENSMUSP00000115525
Gene: ENSMUSG00000047909

Domain	Start	End	E-Value	Type
ANK	36	66	1.15e0	SMART
ANK	70	99	7.95e-4	SMART
ANK	103	132	1.59e-3	SMART
ANK	136	165	9.46e1	SMART

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.4%
20x: 95.3%

Validation Efficiency

100% (80/80)

Allele List at MGI

Other mutations in this stock

Total: 81 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acsm3	G	A	7: 119,784,304 (GRCm38)	V563I	probably benign	Het
Amer3	T	C	1: 34,588,678 (GRCm38)	V666A	probably benign	Het
Ankub1	G	T	3: 57,672,875 (GRCm38)	C120*	probably null	Het
Arhgap31	T	C	16: 38,625,579 (GRCm38)	I135V	probably benign	Het
Atp2c2	G	A	8: 119,749,845 (GRCm38)	G633D	probably benign	Het
Camta1	T	A	4: 151,453,294 (GRCm38)	Q143L	probably damaging	Het
Casp8ap2	T	C	4: 32,644,727 (GRCm38)	S1267P	probably benign	Het
Cdh1	T	A	8: 106,653,759 (GRCm38)		probably benign	Het
Cdhr4	C	A	9: 107,996,261 (GRCm38)	D397E	probably damaging	Het
Cdk6	T	G	5: 3,344,387 (GRCm38)	S7R	probably benign	Het
Cilp2	C	A	8: 69,882,792 (GRCm38)	E519*	probably null	Het
Clybl	A	G	14: 122,311,306 (GRCm38)	Y40C	probably damaging	Het
Col4a3bp	T	A	13: 96,634,886 (GRCm38)	N550K	probably damaging	Het
Ctnnal1	T	C	4: 56,812,329 (GRCm38)	*732W	probably null	Het
Ctns	A	T	11: 73,193,081 (GRCm38)	S38R	probably benign	Het
Cwh43	A	T	5: 73,421,530 (GRCm38)	K293N	possibly damaging	Het
Dcaf5	G	T	12: 80,338,861 (GRCm38)	D830E	probably benign	Het
Dmxl2	A	G	9: 54,415,564 (GRCm38)	V1512A	probably damaging	Het
Dnah9	A	T	11: 66,061,124 (GRCm38)	C1850S	probably damaging	Het
Dpp8	C	T	9: 65,074,567 (GRCm38)		probably null	Het
Enam	A	T	5: 88,501,787 (GRCm38)	Q385L	probably damaging	Het
Etv3	A	G	3: 87,536,062 (GRCm38)	T318A	possibly damaging	Het
Exd2	T	G	12: 80,496,801 (GRCm38)	I586S	probably benign	Het
Fat3	A	G	9: 15,998,517 (GRCm38)	V2063A	possibly damaging	Het
Fezf1	A	G	6: 23,247,332 (GRCm38)	F248S	possibly damaging	Het
Flnc	T	C	6: 29,450,735 (GRCm38)		probably null	Het
Foxc2	A	G	8: 121,118,080 (GRCm38)	Y489C	probably damaging	Het
Gfm2	A	G	13: 97,171,520 (GRCm38)	E540G	probably damaging	Het
Hrg	T	C	16: 22,956,199 (GRCm38)	I193T	probably benign	Het
Ifih1	G	A	2: 62,610,545 (GRCm38)	Q426*	probably null	Het
Ifit1bl2	T	A	19: 34,619,520 (GRCm38)	D232V	probably benign	Het
Igf2bp1	A	G	11: 95,975,296 (GRCm38)	V122A	probably damaging	Het
Inpp1	T	G	1: 52,799,418 (GRCm38)	Q24P	probably damaging	Het
Kifc2	A	G	15: 76,661,254 (GRCm38)	D67G	probably damaging	Het
Lrrc43	G	A	5: 123,501,114 (GRCm38)	G402D	probably benign	Het
Lrrc8c	C	T	5: 105,607,358 (GRCm38)	T333M	possibly damaging	Het
Mab21l3	G	T	3: 101,823,428 (GRCm38)	A165D	probably benign	Het
Mcub	T	A	3: 129,918,688 (GRCm38)	R179S	probably benign	Het
Mdfi	G	C	17: 47,824,637 (GRCm38)	A56G	possibly damaging	Het
Mdn1	A	T	4: 32,743,843 (GRCm38)		probably null	Het
Meox2	A	G	12: 37,167,477 (GRCm38)	T226A	probably damaging	Het
Mipol1	A	G	12: 57,306,056 (GRCm38)		probably null	Het
Mms22l	T	G	4: 24,591,084 (GRCm38)	N1018K	probably benign	Het
Mn1	T	C	5: 111,454,751 (GRCm38)	I1285T	possibly damaging	Het
Muc20	T	G	16: 32,794,177 (GRCm38)	S277R	probably damaging	Het
Muc6	C	A	7: 141,634,078 (GRCm38)	V2845L	probably benign	Het
Mup5	C	A	4: 61,833,725 (GRCm38)	G96C	probably damaging	Het
Neb	C	A	2: 52,271,558 (GRCm38)	R2074L	probably damaging	Het
Neb	T	A	2: 52,256,814 (GRCm38)	M2813L	probably benign	Het
Oasl2	A	T	5: 114,911,002 (GRCm38)	K168*	probably null	Het
Olfr774	T	C	10: 129,238,499 (GRCm38)	S117P	probably damaging	Het
P2rx2	C	T	5: 110,341,141 (GRCm38)	D203N	probably damaging	Het
Ptprg	T	C	14: 11,952,897 (GRCm38)		probably null	Het
Rims4	C	T	2: 163,864,865 (GRCm38)		probably null	Het
Rtn4ip1	T	A	10: 43,932,406 (GRCm38)	W60R	probably benign	Het
Sccpdh	T	C	1: 179,670,597 (GRCm38)	S69P	probably benign	Het
Serpina3b	T	A	12: 104,138,810 (GRCm38)	I415N	probably benign	Het
Slc22a4	T	C	11: 53,983,610 (GRCm38)		probably benign	Het
Slc4a5	G	A	6: 83,297,378 (GRCm38)	A1076T	probably benign	Het
Slit1	T	C	19: 41,602,247 (GRCm38)	K1329E	possibly damaging	Het
Synj2bp	A	C	12: 81,502,052 (GRCm38)	F138V	probably benign	Het
Taar7a	T	C	10: 23,993,061 (GRCm38)	I141V	probably damaging	Het
Tas1r3	T	C	4: 155,862,131 (GRCm38)	E339G	probably benign	Het
Tep1	A	G	14: 50,850,580 (GRCm38)		probably benign	Het
Tgds	A	T	14: 118,121,737 (GRCm38)	Y146*	probably null	Het
Tgm3	G	A	2: 130,037,483 (GRCm38)	V332I	probably benign	Het
Tnnt2	A	G	1: 135,843,809 (GRCm38)		probably benign	Het
Top1	T	A	2: 160,704,819 (GRCm38)	Y340N	probably damaging	Het
Topbp1	T	C	9: 103,317,982 (GRCm38)		probably benign	Het
Tpst1	A	G	5: 130,102,361 (GRCm38)	N224S	probably benign	Het
Traf4	A	G	11: 78,160,014 (GRCm38)	F439L	probably damaging	Het
Trim58	A	G	11: 58,643,138 (GRCm38)		probably benign	Het
Tspan31	T	C	10: 127,068,135 (GRCm38)	N205S	probably damaging	Het
Ube3a	T	A	7: 59,276,477 (GRCm38)	N334K	possibly damaging	Het
Ugt2a3	A	T	5: 87,329,682 (GRCm38)		probably null	Het
Vwf	G	A	6: 125,646,330 (GRCm38)	V1797I	probably benign	Het
Wdr81	G	T	11: 75,452,983 (GRCm38)	P486Q	probably damaging	Het
Whamm	C	T	7: 81,591,771 (GRCm38)	R277*	probably null	Het
Wisp1	A	G	15: 66,919,327 (GRCm38)	E326G	probably benign	Het
Yipf7	T	A	5: 69,521,119 (GRCm38)	N56I	possibly damaging	Het
Zfp523	A	T	17: 28,195,216 (GRCm38)	T75S	probably benign	Het

Other mutations in Ankrd16

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01663:Ankrd16	APN	2	11,778,662 (GRCm38)	missense	probably damaging	1.00
R0280:Ankrd16	UTSW	2	11,781,501 (GRCm38)	missense	probably damaging	1.00
R0521:Ankrd16	UTSW	2	11,789,881 (GRCm38)	missense	probably benign
R1441:Ankrd16	UTSW	2	11,778,746 (GRCm38)	missense	probably damaging	1.00
R1699:Ankrd16	UTSW	2	11,784,393 (GRCm38)	missense	probably benign
R1858:Ankrd16	UTSW	2	11,778,596 (GRCm38)	missense	probably benign
R1944:Ankrd16	UTSW	2	11,783,632 (GRCm38)	splice site	probably null
R2074:Ankrd16	UTSW	2	11,789,748 (GRCm38)	missense	possibly damaging	0.82
R2131:Ankrd16	UTSW	2	11,783,695 (GRCm38)	missense	probably damaging	1.00
R3847:Ankrd16	UTSW	2	11,789,808 (GRCm38)	missense	probably benign	0.04
R3940:Ankrd16	UTSW	2	11,784,381 (GRCm38)	missense	probably benign
R4424:Ankrd16	UTSW	2	11,784,404 (GRCm38)	missense	possibly damaging	0.95
R4707:Ankrd16	UTSW	2	11,778,797 (GRCm38)	missense	probably damaging	1.00
R4863:Ankrd16	UTSW	2	11,784,316 (GRCm38)	missense	probably benign	0.05
R5026:Ankrd16	UTSW	2	11,789,881 (GRCm38)	missense	probably benign	0.05
R5079:Ankrd16	UTSW	2	11,778,899 (GRCm38)	missense	probably damaging	1.00
R5251:Ankrd16	UTSW	2	11,778,741 (GRCm38)	missense	probably damaging	1.00
R5304:Ankrd16	UTSW	2	11,789,734 (GRCm38)	missense	probably benign
R5746:Ankrd16	UTSW	2	11,784,367 (GRCm38)	missense	probably damaging	0.99
R6932:Ankrd16	UTSW	2	11,786,243 (GRCm38)	missense	possibly damaging	0.90
R6958:Ankrd16	UTSW	2	11,779,793 (GRCm38)	missense	probably damaging	1.00
R9228:Ankrd16	UTSW	2	11,781,507 (GRCm38)	missense	probably benign	0.00
R9259:Ankrd16	UTSW	2	11,779,721 (GRCm38)	missense	probably damaging	0.98
Z1088:Ankrd16	UTSW	2	11,779,818 (GRCm38)	frame shift	probably null

Predicted Primers

PCR Primer
(F):5'- CCTTAGGACTCCTCTGATGATGG -3'
(R):5'- GCCAAAGGTTCTGCCACTTC -3'

Sequencing Primer
(F):5'- TGTGATCCAGGACCTTGTAGAACAC -3'
(R):5'- GCCACTTCAGAAACTTATAGTTCGC -3'

Posted On

2014-09-18