Mutagenetix > Incidental Mutations

Incidental Mutation 'R0280:Ankrd16'

37437

Institutional Source

Beutler Lab

Gene Symbol

Ankrd16

Ensembl Gene

ENSMUSG00000047909

Gene Name

ankyrin repeat domain 16

Synonyms

2810455F06Rik, D430029B21Rik

MMRRC Submission

038502-MU

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.090) question?

Stock #

R0280 (G1)

Quality Score

215

Status

Validated

Chromosome

Chromosomal Location

11777876-11790329 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to G at 11781501 bp

Zygosity

Heterozygous

Amino Acid Change

Valine to Glycine at position 187 (V187G)

Ref Sequence

ENSEMBL: ENSMUSP00000052056 (fasta)

Gene Model

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000056108
AA Change: V187G

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

SMART Domains

Protein: ENSMUSP00000052056
Gene: ENSMUSG00000047909
AA Change: V187G

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 damaging
Transcript: ENSMUST00000133664
AA Change: V13G

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000115226
Gene: ENSMUSG00000047909
AA Change: V13G

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: ENSMUST00000142622

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000145547

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000148498

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000150213

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000150320

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000151402

Predicted Effect

possibly damaging
Transcript: ENSMUST00000156067
AA Change: S162R

PolyPhen 2 Score 0.787 (Sensitivity: 0.85; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000115525
Gene: ENSMUSG00000047909
AA Change: S162R

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000192171

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000194100

Meta Mutation Damage Score

0.8997

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 96.9%
20x: 94.6%

Validation Efficiency

96% (55/57)

Allele List at MGI

Other mutations in this stock

Total: 52 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700061G19Rik	T	A	17: 56,885,169	Y577*	probably null	Het
Adam18	C	T	8: 24,674,054	G38R	probably benign	Het
AU019823	T	C	9: 50,609,379	T123A	probably damaging	Het
Ccdc110	A	T	8: 45,943,450	N793Y	probably benign	Het
Ccdc170	T	C	10: 4,558,663	I629T	possibly damaging	Het
Clcn6	A	G	4: 148,008,715	L836P	probably damaging	Het
Colgalt2	G	T	1: 152,508,561	A551S	possibly damaging	Het
Crocc	T	C	4: 141,028,426	E1097G	probably damaging	Het
Csmd1	A	T	8: 16,271,602	V494E	probably damaging	Het
Drg1	A	T	11: 3,256,537		probably null	Het
Dscam	T	C	16: 97,039,006	K134E	possibly damaging	Het
Dyrk1b	T	C	7: 28,184,312	Y198H	probably damaging	Het
Esr1	A	G	10: 4,856,951	D289G	probably benign	Het
Esr1	G	T	10: 4,939,289	V396F	probably damaging	Het
Evi5l	T	C	8: 4,193,133	V339A	probably damaging	Het
Fat4	A	T	3: 38,890,816	Q1286L	probably benign	Het
Frem1	T	C	4: 82,969,444	H1118R	probably damaging	Het
Fuk	A	T	8: 110,894,748	V188D	probably damaging	Het
Fut9	C	T	4: 25,619,852	D321N	probably benign	Het
Gaa	T	G	11: 119,284,547	V917G	probably damaging	Het
Gm973	GCC	GC	1: 59,544,680		probably null	Het
Kidins220	A	G	12: 25,010,141	T767A	probably damaging	Het
Kif7	A	G	7: 79,698,823	S1257P	probably benign	Het
Ltn1	A	G	16: 87,397,838	L1391P	probably damaging	Het
Mast3	A	G	8: 70,783,795	Y681H	probably damaging	Het
Mast3	A	G	8: 70,787,920	V291A	possibly damaging	Het
Metrn	C	T	17: 25,795,135	R239H	probably benign	Het
Mphosph10	C	A	7: 64,376,703	K666N	possibly damaging	Het
Mtbp	C	T	15: 55,586,461	T433I	probably benign	Het
Mtmr2	A	G	9: 13,799,249	K365E	probably damaging	Het
Nanog	A	G	6: 122,713,398	D229G	probably damaging	Het
Npepps	T	C	11: 97,241,014	N338S	possibly damaging	Het
Nphp4	T	A	4: 152,551,936		probably benign	Het
Olfr1279	T	C	2: 111,307,072	F289S	possibly damaging	Het
Plcl2	A	G	17: 50,607,034	E357G	probably damaging	Het
Polb	A	T	8: 22,640,392	Y173N	probably damaging	Het
R3hdm1	T	A	1: 128,162,775	S74T	probably benign	Het
Raet1d	T	A	10: 22,370,883	C37S	probably damaging	Het
Reln	G	A	5: 22,227,513		probably benign	Het
Rps6kc1	T	C	1: 190,809,000	S369G	probably damaging	Het
Sgf29	A	G	7: 126,671,571	E108G	probably benign	Het
Sh3tc1	A	G	5: 35,706,017	L942P	probably damaging	Het
Slc22a27	A	T	19: 7,896,822	L188*	probably null	Het
Slc9a3	T	A	13: 74,159,424	I445N	probably damaging	Het
Sufu	A	T	19: 46,450,673		probably benign	Het
Tomm40	G	A	7: 19,713,751	T118I	probably damaging	Het
Ttc25	A	T	11: 100,550,265	K107N	probably damaging	Het
Ttn	C	T	2: 76,740,479	R26690H	probably damaging	Het
Vmn2r16	A	G	5: 109,340,139	I293V	possibly damaging	Het
Vmn2r68	T	A	7: 85,233,249		probably benign	Het
Vmn2r68	C	G	7: 85,233,258		probably null	Het
Vsig8	A	G	1: 172,561,538	D119G	probably benign	Het

Other mutations in Ankrd16

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01663:Ankrd16	APN	2	11778662	missense	probably damaging	1.00
R0521:Ankrd16	UTSW	2	11789881	missense	probably benign
R1441:Ankrd16	UTSW	2	11778746	missense	probably damaging	1.00
R1699:Ankrd16	UTSW	2	11784393	missense	probably benign
R1858:Ankrd16	UTSW	2	11778596	missense	probably benign
R1944:Ankrd16	UTSW	2	11783632	splice site	probably null
R2074:Ankrd16	UTSW	2	11789748	missense	possibly damaging	0.82
R2104:Ankrd16	UTSW	2	11779900	intron	probably benign
R2131:Ankrd16	UTSW	2	11783695	missense	probably damaging	1.00
R3847:Ankrd16	UTSW	2	11789808	missense	probably benign	0.04
R3940:Ankrd16	UTSW	2	11784381	missense	probably benign
R4424:Ankrd16	UTSW	2	11784404	missense	possibly damaging	0.95
R4707:Ankrd16	UTSW	2	11778797	missense	probably damaging	1.00
R4863:Ankrd16	UTSW	2	11784316	missense	probably benign	0.05
R5026:Ankrd16	UTSW	2	11789881	missense	probably benign	0.05
R5079:Ankrd16	UTSW	2	11778899	missense	probably damaging	1.00
R5251:Ankrd16	UTSW	2	11778741	missense	probably damaging	1.00
R5304:Ankrd16	UTSW	2	11789734	missense	probably benign
R5746:Ankrd16	UTSW	2	11784367	missense	probably damaging	0.99
R6932:Ankrd16	UTSW	2	11786243	missense	possibly damaging	0.90
R6958:Ankrd16	UTSW	2	11779793	missense	probably damaging	1.00
Z1088:Ankrd16	UTSW	2	11779818	frame shift	probably null

Predicted Primers

PCR Primer
(F):5'- ACTCTAGGTGTTTGACCAGGGCAG -3'
(R):5'- CAGCCGTTATCCTCAGGTGAACAG -3'

Sequencing Primer
(F):5'- acctctacccacacatacaaac -3'
(R):5'- GCTGGTGCAGAGACATTTACTC -3'

Posted On

2013-05-23