Mutagenetix > Incidental Mutation

Incidental Mutation 'R6958:Ankrd16'

541566

Institutional Source

Beutler Lab

Gene Symbol

Ankrd16

Ensembl Gene

ENSMUSG00000047909

Gene Name

ankyrin repeat domain 16

Synonyms

D430029B21Rik, 2810455F06Rik

MMRRC Submission

045009-MU

Accession Numbers

Essential gene?

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

Stock #

R6958 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

11782687-11795140 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 11784604 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Alanine to Valine at position 144 (A144V)

Ref Sequence

ENSEMBL: ENSMUSP00000052056 (fasta)

Gene Model

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

AlphaFold

A2AS55

Predicted Effect

probably damaging
Transcript: ENSMUST00000056108
AA Change: A144V

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

SMART Domains

Protein: ENSMUSP00000052056
Gene: ENSMUSG00000047909
AA Change: A144V

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

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

probably damaging
Transcript: ENSMUST00000156067
AA Change: A144V

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

SMART Domains

Protein: ENSMUSP00000115525
Gene: ENSMUSG00000047909
AA Change: A144V

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

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.2%
20x: 96.9%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 62 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2410004B18Rik	A	G	3: 145,649,558 (GRCm39)	D159G	probably benign	Het
Ahnak	A	G	19: 8,992,579 (GRCm39)	N4621S	possibly damaging	Het
Bhmt1b	G	A	18: 87,775,046 (GRCm39)	E190K	probably benign	Het
Ccdc14	T	C	16: 34,511,176 (GRCm39)	V2A	probably damaging	Het
Ccdc187	C	T	2: 26,179,731 (GRCm39)	V243I	probably benign	Het
Cdk12	A	T	11: 98,132,525 (GRCm39)	I985F	unknown	Het
Cfap65	T	C	1: 74,971,058 (GRCm39)	T87A	possibly damaging	Het
Cilp2	G	A	8: 70,335,190 (GRCm39)	P603S	probably benign	Het
Cntnap5b	A	G	1: 100,202,197 (GRCm39)	E348G	probably benign	Het
Cpa6	C	T	1: 10,665,913 (GRCm39)	V42M	probably damaging	Het
Cpsf4	A	G	5: 145,112,402 (GRCm39)	I115V	probably benign	Het
Dnah11	G	T	12: 117,897,544 (GRCm39)	P3562Q	probably damaging	Het
Dnah9	A	G	11: 65,967,167 (GRCm39)	F1664L	probably damaging	Het
Dpysl3	T	C	18: 43,571,067 (GRCm39)	Q69R	probably benign	Het
Ebf3	T	C	7: 136,800,994 (GRCm39)	T455A	possibly damaging	Het
Eif2ak3	T	A	6: 70,869,667 (GRCm39)	C785S	probably benign	Het
Elk4	T	A	1: 131,945,570 (GRCm39)	F149L	probably damaging	Het
Fgf14	A	G	14: 124,914,009 (GRCm39)	W41R	probably benign	Het
Fmnl1	T	A	11: 103,062,140 (GRCm39)	M1K	probably null	Het
Foxk2	A	T	11: 121,190,563 (GRCm39)	Q568L	probably benign	Het
Fryl	T	G	5: 73,231,272 (GRCm39)	I1602L	possibly damaging	Het
Gfm2	A	G	13: 97,282,744 (GRCm39)	I75V	probably damaging	Het
Gm3233	T	A	10: 77,595,369 (GRCm39)		probably benign	Het
Gnb1	G	T	4: 155,627,651 (GRCm39)		probably null	Het
Gphn	G	T	12: 78,727,073 (GRCm39)	V662L	possibly damaging	Het
Il3	A	C	11: 54,157,937 (GRCm39)	V47G	probably benign	Het
Iqgap3	A	G	3: 88,020,673 (GRCm39)	D401G	possibly damaging	Het
Kdm3b	T	A	18: 34,941,336 (GRCm39)	S276T	probably benign	Het
Krtap6-2	A	G	16: 89,216,698 (GRCm39)	S90P	unknown	Het
Lars1	C	T	18: 42,369,704 (GRCm39)	V394I	probably damaging	Het
Lrit1	G	C	14: 36,782,052 (GRCm39)	V242L	probably damaging	Het
Lrp10	A	G	14: 54,707,278 (GRCm39)		probably benign	Het
Ltn1	A	T	16: 87,194,679 (GRCm39)	C1407S	probably benign	Het
Lzts2	G	T	19: 45,012,582 (GRCm39)		probably benign	Het
Msantd2	A	G	9: 37,434,753 (GRCm39)	E331G	probably damaging	Het
Myo15a	G	A	11: 60,394,451 (GRCm39)	G1218S	probably benign	Het
Myom2	G	A	8: 15,167,741 (GRCm39)	A1109T	probably null	Het
Nhp2	A	G	11: 51,513,934 (GRCm39)	T118A	probably benign	Het
Nup155	A	G	15: 8,176,638 (GRCm39)	Y972C	probably damaging	Het
Nxpe2	A	T	9: 48,237,566 (GRCm39)	C230S	probably damaging	Het
Or12d13	T	C	17: 37,647,308 (GRCm39)	I272V	probably benign	Het
Or51g2	A	G	7: 102,623,091 (GRCm39)	L36P	possibly damaging	Het
Or5w8	T	C	2: 87,688,295 (GRCm39)	Y259H	probably damaging	Het
Pfkfb4	A	T	9: 108,839,615 (GRCm39)	N244I	probably damaging	Het
Pi4ka	C	T	16: 17,143,091 (GRCm39)	R24Q	probably damaging	Het
Pkd2l2	C	A	18: 34,542,543 (GRCm39)	Y8*	probably null	Het
Pramel20	A	T	4: 143,297,829 (GRCm39)	D83V	probably damaging	Het
Ptprb	T	A	10: 116,113,153 (GRCm39)	N44K	probably benign	Het
Sds	G	A	5: 120,619,537 (GRCm39)	V149M	probably damaging	Het
Slc22a30	A	G	19: 8,364,065 (GRCm39)	F204L	probably damaging	Het
Slc26a7	C	T	4: 14,506,442 (GRCm39)	A636T	probably benign	Het
Slc27a1	C	T	8: 72,038,083 (GRCm39)	A577V	possibly damaging	Het
Spata13	A	T	14: 60,989,300 (GRCm39)	T319S	possibly damaging	Het
Styxl2	T	A	1: 165,935,565 (GRCm39)	D211V	probably damaging	Het
Tdrd3	A	G	14: 87,694,532 (GRCm39)	D29G	probably damaging	Het
Tex15	A	T	8: 34,060,899 (GRCm39)	I110L	probably benign	Het
Treml2	A	G	17: 48,615,180 (GRCm39)	T222A	probably damaging	Het
Trpd52l3	A	T	19: 29,981,546 (GRCm39)	L100F	probably damaging	Het
Ttf2	C	T	3: 100,853,248 (GRCm39)	E975K	probably benign	Het
Vmn1r193	T	A	13: 22,404,144 (GRCm39)		probably benign	Het
Xpo1	A	G	11: 23,235,855 (GRCm39)	T648A	probably benign	Het
Zfp641	C	T	15: 98,190,832 (GRCm39)	V71I	possibly damaging	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
R5079:Ankrd16	UTSW	2	11,783,710 (GRCm39)	missense	probably damaging	1.00
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
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'- GAAGGTTTGGCTTCTTCCAAG -3'
(R):5'- AGATGCTCTGATGCCTTGTC -3'

Sequencing Primer
(F):5'- GGCTTCTTCCAAGTGCCTCAG -3'
(R):5'- CCTGCAGGGAACTTGAACTAC -3'

Posted On

2018-11-28