Mutagenetix > Incidental Mutations

Incidental Mutation 'R5518:Ankrd26'

431399

Institutional Source

Beutler Lab

Gene Symbol

Ankrd26

Ensembl Gene

ENSMUSG00000007827

Gene Name

ankyrin repeat domain 26

Synonyms

5730521P14Rik

MMRRC Submission

043077-MU

Accession Numbers

Genbank: NM_001081112;MGI: 1917887

Is this an essential gene?

Non essential (E-score: 0.000) question?

Stock #

R5518 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

118501308-118562226 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 118548908 bp

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Valine at position 359 (I359V)

Ref Sequence

ENSEMBL: ENSMUSP00000108449 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000112830]

Predicted Effect

probably benign
Transcript: ENSMUST00000112830
AA Change: I359V

PolyPhen 2 Score 0.004 (Sensitivity: 0.98; Specificity: 0.59)

SMART Domains

Protein: ENSMUSP00000108449
Gene: ENSMUSG00000007827
AA Change: I359V

Domain	Start	End	E-Value	Type
ANK	80	109	1.5e-7	SMART
ANK	113	142	3.5e-4	SMART
ANK	146	175	1.9e-6	SMART
ANK	179	208	2.2e-4	SMART
low complexity region	306	316	N/A	INTRINSIC
low complexity region	568	580	N/A	INTRINSIC
Blast:BRLZ	692	754	4e-10	BLAST
Pfam:CCDC144C	886	1190	2e-142	PFAM
low complexity region	1298	1315	N/A	INTRINSIC
low complexity region	1345	1357	N/A	INTRINSIC
coiled coil region	1407	1444	N/A	INTRINSIC
low complexity region	1473	1486	N/A	INTRINSIC
Pfam:DUF3496	1495	1602	1.3e-47	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000188022

Meta Mutation Damage Score

0.1045

Coding Region Coverage

1x: 99.0%
3x: 97.4%
10x: 94.2%
20x: 86.3%

Validation Efficiency

100% (75/75)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a protein containing N-terminal ankyrin repeats which function in protein-protein interactions. Mutations in this gene are associated with autosomal dominant thrombocytopenia-2. Pseudogenes of this gene are found on chromosome 7, 10, 13 and 16. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Dec 2011]
PHENOTYPE: Mice homozygous for a gene trapped allele have enlarged kidneys and hearts, exhibit increased lean body mass and adiposity, develop extreme obesity associated with hyperphagia rather than reduced energy expenditure, and show insulin resistance and gigantism. [provided by MGI curators]

Allele List at MGI

All alleles(3) : Gene trapped(3)

Other mutations in this stock

Total: 64 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcc8	C	T	7: 46,120,449	E881K	probably benign	Het
Abcf1	C	T	17: 35,958,341	R675K	possibly damaging	Het
Abl1	T	A	2: 31,790,742	C349S	probably damaging	Het
Acot11	C	A	4: 106,750,010	V459L	probably benign	Het
Ank2	A	T	3: 126,959,699	V311D	probably damaging	Het
Ankrd11	C	G	8: 122,890,994	E2040Q	possibly damaging	Het
Armc3	T	G	2: 19,297,928	L684V	probably benign	Het
Asb10	G	A	5: 24,539,645	P184S	probably damaging	Het
Atp10b	T	C	11: 43,151,636	S8P	possibly damaging	Het
Blk	G	T	14: 63,378,507	S324R	possibly damaging	Het
C4b	G	C	17: 34,734,442	N1022K	probably benign	Het
Card6	G	T	15: 5,105,214	T169K	probably damaging	Het
Catsper2	T	C	2: 121,406,363	T268A	possibly damaging	Het
Cbx3	C	T	6: 51,481,746	P64S	probably benign	Het
Chchd6	A	G	6: 89,567,585		probably null	Het
Cntn1	G	A	15: 92,314,653	E899K	probably benign	Het
Col6a4	A	T	9: 106,072,188	S749R	possibly damaging	Het
Cpne3	T	G	4: 19,553,779	N84T	probably benign	Het
Dcxr	A	C	11: 120,726,199		probably benign	Het
Dnhd1	G	A	7: 105,703,209	R2523Q	probably damaging	Het
Emsy	T	C	7: 98,593,611	Q1107R	possibly damaging	Het
Erbb2	G	T	11: 98,422,770	C221F	probably damaging	Het
Exoc3l	T	C	8: 105,293,163	N353D	probably benign	Het
Fchsd1	C	T	18: 37,959,873		probably benign	Het
G3bp2	T	A	5: 92,068,488	H63L	probably benign	Het
Galnt17	A	G	5: 130,900,590	Y460H	probably damaging	Het
Gm6003	T	A	7: 33,165,579		noncoding transcript	Het
Gm884	A	T	11: 103,615,253	I1963K	probably benign	Het
Ighv5-12-4	A	G	12: 113,762,534	L23P	probably damaging	Het
Ins1	T	C	19: 52,264,739	L39P	probably damaging	Het
Itpr3	T	G	17: 27,087,592	V210G	probably damaging	Het
Klrb1	T	A	6: 128,706,525	T210S	probably benign	Het
Krtap24-1	A	T	16: 88,611,708	F177I	probably damaging	Het
Mcat	A	G	15: 83,547,674		probably null	Het
Mknk2	A	T	10: 80,668,641	C229S	possibly damaging	Het
Mta2	C	A	19: 8,948,092	Q362K	probably benign	Het
Ndst4	T	C	3: 125,438,456	Y225H	probably benign	Het
Olfr1423	T	C	19: 12,036,065	R226G	probably damaging	Het
Pcdha1	A	G	18: 36,932,362	D693G	probably benign	Het
Pik3r5	G	A	11: 68,477,468	D100N	possibly damaging	Het
Pld3	T	C	7: 27,532,371	D465G	probably damaging	Het
Prkdc	T	C	16: 15,678,308	Y788H	probably damaging	Het
Ptprt	T	A	2: 162,278,223	D108V	probably damaging	Het
Rasgrp3	T	A	17: 75,516,359	M475K	probably benign	Het
Rbak	A	G	5: 143,173,309	L663P	probably damaging	Het
Rnf17	A	G	14: 56,482,133	N947D	probably damaging	Het
Ryr2	T	C	13: 11,687,909	S2898G	probably benign	Het
Serpina1e	A	C	12: 103,950,828	L194R	probably damaging	Het
Smg6	T	C	11: 75,053,898	S158P	probably damaging	Het
Smtnl2	A	T	11: 72,401,516	V269E	possibly damaging	Het
Snx14	G	T	9: 88,383,802	P760Q	probably damaging	Het
Sorl1	T	C	9: 42,037,212	E759G	possibly damaging	Het
Sspo	C	T	6: 48,496,654	T4906M	possibly damaging	Het
Syne2	T	A	12: 75,945,170	F1970I	possibly damaging	Het
Tekt3	C	A	11: 63,083,942	H362Q	probably benign	Het
Tmem121	T	C	12: 113,188,927	V255A	possibly damaging	Het
Tmem201	T	C	4: 149,718,077	T614A	probably benign	Het
Tnc	T	C	4: 64,017,679	D340G	probably damaging	Het
Ttc28	A	T	5: 111,225,928	T1046S	probably benign	Het
Ubxn2a	T	C	12: 4,902,238	D8G	probably benign	Het
Vwde	T	C	6: 13,186,938	N850S	probably benign	Het
Zfp280d	A	G	9: 72,324,135	H451R	probably damaging	Het
Zfp462	T	C	4: 55,009,818	C595R	probably damaging	Het
Zfp768	A	G	7: 127,344,411	S182P	probably benign	Het

Other mutations in Ankrd26

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00965:Ankrd26	APN	6	118559358	nonsense	probably null
IGL01286:Ankrd26	APN	6	118559107	missense	probably damaging	1.00
IGL01574:Ankrd26	APN	6	118539698	missense	probably damaging	1.00
IGL01727:Ankrd26	APN	6	118511636	missense	probably damaging	1.00
IGL01954:Ankrd26	APN	6	118559005	missense	possibly damaging	0.62
IGL02200:Ankrd26	APN	6	118559341	missense	probably damaging	1.00
IGL02708:Ankrd26	APN	6	118518418	splice site	probably benign
IGL02973:Ankrd26	APN	6	118523550	missense	probably damaging	0.98
IGL03233:Ankrd26	APN	6	118535146	splice site	probably null
Murre	UTSW	6	118549637	critical splice donor site	probably null
ANU74:Ankrd26	UTSW	6	118552775	missense	probably benign	0.02
N/A:Ankrd26	UTSW	6	118529574	missense	probably benign	0.04
R0078:Ankrd26	UTSW	6	118535069	splice site	probably benign
R0083:Ankrd26	UTSW	6	118523254	missense	probably benign	0.36
R0165:Ankrd26	UTSW	6	118540484	missense	probably benign	0.01
R0344:Ankrd26	UTSW	6	118507637	critical splice donor site	probably null
R0828:Ankrd26	UTSW	6	118533473	splice site	probably benign
R1532:Ankrd26	UTSW	6	118522958	missense	probably damaging	1.00
R1809:Ankrd26	UTSW	6	118525922	splice site	probably benign
R1875:Ankrd26	UTSW	6	118540449	critical splice donor site	probably null
R1940:Ankrd26	UTSW	6	118511693	missense	probably damaging	1.00
R2164:Ankrd26	UTSW	6	118525791	missense	probably damaging	1.00
R2202:Ankrd26	UTSW	6	118523882	missense	possibly damaging	0.79
R2204:Ankrd26	UTSW	6	118523882	missense	possibly damaging	0.79
R2205:Ankrd26	UTSW	6	118523882	missense	possibly damaging	0.79
R3107:Ankrd26	UTSW	6	118556243	missense	probably benign	0.01
R3419:Ankrd26	UTSW	6	118535107	missense	probably damaging	1.00
R3552:Ankrd26	UTSW	6	118507776	missense	probably damaging	1.00
R3899:Ankrd26	UTSW	6	118549428	missense	probably benign	0.30
R4157:Ankrd26	UTSW	6	118507821	missense	probably damaging	1.00
R4194:Ankrd26	UTSW	6	118523678	missense	probably benign	0.21
R4230:Ankrd26	UTSW	6	118559388	splice site	probably null
R4651:Ankrd26	UTSW	6	118515826	missense	probably benign	0.03
R4701:Ankrd26	UTSW	6	118506485	missense	possibly damaging	0.65
R4747:Ankrd26	UTSW	6	118527757	missense	probably benign	0.01
R4752:Ankrd26	UTSW	6	118540465	missense	probably null	1.00
R4834:Ankrd26	UTSW	6	118523718	missense	probably benign	0.08
R4835:Ankrd26	UTSW	6	118548850	nonsense	probably null
R4849:Ankrd26	UTSW	6	118532296	missense	probably benign	0.00
R5149:Ankrd26	UTSW	6	118558996	missense	probably benign	0.05
R5389:Ankrd26	UTSW	6	118508575	missense	possibly damaging	0.82
R5473:Ankrd26	UTSW	6	118515836	missense	probably benign	0.04
R5525:Ankrd26	UTSW	6	118527731	missense	probably benign	0.00
R5608:Ankrd26	UTSW	6	118511622	missense	probably damaging	1.00
R5639:Ankrd26	UTSW	6	118539724	missense	possibly damaging	0.72
R5704:Ankrd26	UTSW	6	118523882	missense	probably damaging	0.96
R5927:Ankrd26	UTSW	6	118507636	critical splice donor site	probably null
R5943:Ankrd26	UTSW	6	118505746	missense	probably damaging	1.00
R5976:Ankrd26	UTSW	6	118517894	critical splice donor site	probably null
R6181:Ankrd26	UTSW	6	118548877	missense	probably benign	0.15
R6478:Ankrd26	UTSW	6	118511638	missense	probably benign	0.28
R6667:Ankrd26	UTSW	6	118507788	missense	probably benign	0.02
R6865:Ankrd26	UTSW	6	118523481	missense	possibly damaging	0.90
R7224:Ankrd26	UTSW	6	118539727	missense	probably benign	0.07
R7287:Ankrd26	UTSW	6	118549637	critical splice donor site	probably null
R7301:Ankrd26	UTSW	6	118511663	missense	possibly damaging	0.62
R7348:Ankrd26	UTSW	6	118508564	missense	probably damaging	1.00
R7414:Ankrd26	UTSW	6	118508780	missense	possibly damaging	0.60
R7789:Ankrd26	UTSW	6	118527798	missense	probably damaging	0.98
R7789:Ankrd26	UTSW	6	118527799	missense	possibly damaging	0.82
R7964:Ankrd26	UTSW	6	118523199	missense	probably benign	0.03
R8078:Ankrd26	UTSW	6	118517893	splice site	probably null
R8224:Ankrd26	UTSW	6	118525755	missense	probably damaging	1.00
X0028:Ankrd26	UTSW	6	118507761	missense	probably damaging	1.00
Z1177:Ankrd26	UTSW	6	118523532	missense	possibly damaging	0.77
Z1177:Ankrd26	UTSW	6	118523595	missense	probably damaging	0.99

Predicted Primers

PCR Primer
(F):5'- TCACACGGAATTGGTATAGCAAG -3'
(R):5'- GGCATGGACCTTTCGCTTAC -3'

Sequencing Primer
(F):5'- AGAGGTCCTGAGTTCAATTCCCAG -3'
(R):5'- GCTTACTCACTGCAGCCTG -3'

Posted On

2016-10-05