Mutagenetix > Incidental Mutation

Incidental Mutation 'R5079:Ankrd16'

386997

Institutional Source

Beutler Lab

Gene Symbol

Ankrd16

Ensembl Gene

ENSMUSG00000047909

Gene Name

ankyrin repeat domain 16

Synonyms

D430029B21Rik, 2810455F06Rik

MMRRC Submission

042668-MU

Accession Numbers

Essential gene?

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

Stock #

R5079 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

11782687-11795140 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 11783710 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glycine at position 104 (D104G)

Ref Sequence

ENSEMBL: ENSMUSP00000115525 (fasta)

Gene Model

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

AlphaFold

A2AS55

Predicted Effect

probably damaging
Transcript: ENSMUST00000056108
AA Change: D104G

PolyPhen 2 Score 0.977 (Sensitivity: 0.76; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000052056
Gene: ENSMUSG00000047909
AA Change: D104G

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: 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: ENSMUST00000150320

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000150213

Predicted Effect

probably damaging
Transcript: ENSMUST00000156067
AA Change: D104G

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000115525
Gene: ENSMUSG00000047909
AA Change: D104G

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: ENSMUST00000151402

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000194100

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000145547

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000192171

Meta Mutation Damage Score

0.3457

Coding Region Coverage

1x: 99.1%
3x: 98.3%
10x: 96.1%
20x: 91.6%

Validation Efficiency

90% (63/70)

Allele List at MGI

Other mutations in this stock

Total: 59 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930522L14Rik	T	C	5: 109,885,196 (GRCm39)	S221G	probably benign	Het
Abca9	A	T	11: 110,036,395 (GRCm39)	F571L	possibly damaging	Het
Agbl4	T	A	4: 111,423,826 (GRCm39)	M284K	possibly damaging	Het
Bpifc	T	C	10: 85,817,168 (GRCm39)	D230G	probably damaging	Het
Casc3	C	T	11: 98,701,252 (GRCm39)		probably benign	Het
Catsperd	T	C	17: 56,965,153 (GRCm39)		probably null	Het
Cpxm2	C	T	7: 131,756,014 (GRCm39)		probably null	Het
Crisp1	A	T	17: 40,619,867 (GRCm39)		probably null	Het
Crybg2	T	C	4: 133,801,564 (GRCm39)	I908T	possibly damaging	Het
Csn3	T	C	5: 88,077,626 (GRCm39)	V44A	possibly damaging	Het
Dipk1c	A	T	18: 84,748,702 (GRCm39)	H100L	probably benign	Het
Dop1a	T	A	9: 86,369,474 (GRCm39)	D102E	probably damaging	Het
Etfdh	T	C	3: 79,525,705 (GRCm39)	Y111C	probably damaging	Het
Fat3	T	C	9: 15,910,423 (GRCm39)	S1860G	probably benign	Het
Gba2	G	T	4: 43,568,640 (GRCm39)		probably benign	Het
Ggta1	A	G	2: 35,312,249 (GRCm39)	I43T	possibly damaging	Het
Glb1l2	T	C	9: 26,682,405 (GRCm39)	I149V	probably benign	Het
Gm5084	T	A	13: 60,360,639 (GRCm39)		noncoding transcript	Het
Gm5591	G	T	7: 38,221,560 (GRCm39)	P170T	probably benign	Het
Gucy2d	A	T	7: 98,107,475 (GRCm39)		probably null	Het
Itpr3	T	C	17: 27,317,397 (GRCm39)	F851L	probably damaging	Het
Kat2b	T	A	17: 53,970,666 (GRCm39)	I684N	probably damaging	Het
Klra17	C	A	6: 129,849,159 (GRCm39)	K138N	possibly damaging	Het
Lrrc4	T	A	6: 28,830,769 (GRCm39)	H282L	possibly damaging	Het
Lyst	T	C	13: 13,931,938 (GRCm39)	I3522T	probably benign	Het
Man2c1	A	G	9: 57,044,000 (GRCm39)	T312A	probably damaging	Het
Mapkbp1	A	G	2: 119,844,214 (GRCm39)	R313G	probably damaging	Het
N4bp2	G	A	5: 65,969,320 (GRCm39)	G1361R	probably damaging	Het
Nbas	A	T	12: 13,424,712 (GRCm39)	I984F	probably damaging	Het
Ncor1	T	A	11: 62,236,063 (GRCm39)	Q579L	possibly damaging	Het
Nme9	A	G	9: 99,341,755 (GRCm39)	Y35C	probably damaging	Het
Or5w13	C	A	2: 87,523,552 (GRCm39)	V225F	probably damaging	Het
Ormdl1	T	C	1: 53,348,093 (GRCm39)	V145A	probably damaging	Het
Paxbp1	C	A	16: 90,822,034 (GRCm39)		probably null	Het
Pcnx1	C	A	12: 82,025,863 (GRCm39)	S1530*	probably null	Het
Pogk	A	G	1: 166,226,733 (GRCm39)	W473R	probably damaging	Het
Pot1b	A	T	17: 55,976,801 (GRCm39)	S374T	probably benign	Het
Rcn1	A	G	2: 105,229,402 (GRCm39)	F50S	probably damaging	Het
Rcvrn	T	A	11: 67,593,767 (GRCm39)	I186N	probably damaging	Het
Rnd2	C	T	11: 101,359,825 (GRCm39)	L57F	probably damaging	Het
Ror1	T	A	4: 100,298,619 (GRCm39)	I664N	probably damaging	Het
Sall2	G	T	14: 52,552,211 (GRCm39)	A326E	probably damaging	Het
Sh2d6	G	A	6: 72,496,833 (GRCm39)	P66S	probably benign	Het
Slc6a20b	T	A	9: 123,427,563 (GRCm39)	S449C	probably damaging	Het
Slc9a3	A	T	13: 74,312,406 (GRCm39)	N668Y	probably damaging	Het
Slco1a8	A	C	6: 141,918,073 (GRCm39)	I601R	probably benign	Het
Sorcs2	T	G	5: 36,200,796 (GRCm39)	K584T	probably damaging	Het
Stam	T	C	2: 14,079,350 (GRCm39)	M8T	probably benign	Het
Styk1	G	A	6: 131,278,676 (GRCm39)	P333S	probably damaging	Het
Sycp1	A	G	3: 102,786,116 (GRCm39)	C589R	possibly damaging	Het
Tas2r123	A	G	6: 132,824,681 (GRCm39)	I193V	probably benign	Het
Tnks1bp1	C	A	2: 84,892,970 (GRCm39)	Q304K	probably damaging	Het
Traf3ip2	T	C	10: 39,502,473 (GRCm39)	L207P	probably damaging	Het
Usp49	A	G	17: 47,984,146 (GRCm39)	S384G	possibly damaging	Het
Vezt	T	C	10: 93,856,486 (GRCm39)		probably null	Het
Vmn1r87	C	A	7: 12,866,253 (GRCm39)	M11I	probably benign	Het
Vmn2r39	A	G	7: 9,026,489 (GRCm39)	V504A	probably benign	Het
Wapl	G	A	14: 34,446,714 (GRCm39)	A607T	probably damaging	Het
Zfp638	A	G	6: 83,906,438 (GRCm39)	N201S	probably benign	Het

Other mutations in Ankrd16

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01663:Ankrd16	APN	2	11,783,473 (GRCm39)	missense	probably damaging	1.00
R0280:Ankrd16	UTSW	2	11,786,312 (GRCm39)	missense	probably damaging	1.00
R0521:Ankrd16	UTSW	2	11,794,692 (GRCm39)	missense	probably benign
R1441:Ankrd16	UTSW	2	11,783,557 (GRCm39)	missense	probably damaging	1.00
R1699:Ankrd16	UTSW	2	11,789,204 (GRCm39)	missense	probably benign
R1858:Ankrd16	UTSW	2	11,783,407 (GRCm39)	missense	probably benign
R1944:Ankrd16	UTSW	2	11,788,443 (GRCm39)	splice site	probably null
R2074:Ankrd16	UTSW	2	11,794,559 (GRCm39)	missense	possibly damaging	0.82
R2104:Ankrd16	UTSW	2	11,784,711 (GRCm39)	intron	probably benign
R2131:Ankrd16	UTSW	2	11,788,506 (GRCm39)	missense	probably damaging	1.00
R3847:Ankrd16	UTSW	2	11,794,619 (GRCm39)	missense	probably benign	0.04
R3940:Ankrd16	UTSW	2	11,789,192 (GRCm39)	missense	probably benign
R4424:Ankrd16	UTSW	2	11,789,215 (GRCm39)	missense	possibly damaging	0.95
R4707:Ankrd16	UTSW	2	11,783,608 (GRCm39)	missense	probably damaging	1.00
R4863:Ankrd16	UTSW	2	11,789,127 (GRCm39)	missense	probably benign	0.05
R5026:Ankrd16	UTSW	2	11,794,692 (GRCm39)	missense	probably benign	0.05
R5251:Ankrd16	UTSW	2	11,783,552 (GRCm39)	missense	probably damaging	1.00
R5304:Ankrd16	UTSW	2	11,794,545 (GRCm39)	missense	probably benign
R5746:Ankrd16	UTSW	2	11,789,178 (GRCm39)	missense	probably damaging	0.99
R6932:Ankrd16	UTSW	2	11,791,054 (GRCm39)	missense	possibly damaging	0.90
R6958:Ankrd16	UTSW	2	11,784,604 (GRCm39)	missense	probably damaging	1.00
R9228:Ankrd16	UTSW	2	11,786,318 (GRCm39)	missense	probably benign	0.00
R9259:Ankrd16	UTSW	2	11,784,532 (GRCm39)	missense	probably damaging	0.98
Z1088:Ankrd16	UTSW	2	11,784,629 (GRCm39)	frame shift	probably null

Predicted Primers

PCR Primer
(F):5'- AGACACCCTTCTCCACTGTG -3'
(R):5'- GAGTAGTACAATTCAACCGTTTCAC -3'

Sequencing Primer
(F):5'- TCTCCACTGTGCAGCACG -3'
(R):5'- TCCATACTCTTTCGACGGGAAAC -3'

Posted On

2016-06-06