Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL00965:Ankrd26'

27690

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Ankrd26

Ensembl Gene

ENSMUSG00000007827

Gene Name

ankyrin repeat domain 26

Synonyms

5730521P14Rik

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

IGL00965

Quality Score

Status

Chromosome

Chromosomal Location

118478269-118539187 bp(-) (GRCm39)

Type of Mutation

nonsense

DNA Base Change (assembly)

G to T at 118536319 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Stop codon at position 91 (Y91*)

Ref Sequence

ENSEMBL: ENSMUSP00000108449 (fasta)

Gene Model

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

AlphaFold

no structure available at present

Predicted Effect

probably null
Transcript: ENSMUST00000112830
AA Change: Y91*

SMART Domains

Protein: ENSMUSP00000108449
Gene: ENSMUSG00000007827
AA Change: Y91*

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

Coding Region Coverage

Validation Efficiency

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: 30 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acot8	C	T	2: 164,646,735 (GRCm39)	M1I	probably null	Het
Adam33	T	C	2: 130,896,183 (GRCm39)		probably benign	Het
Adgrl1	C	T	8: 84,664,332 (GRCm39)	T1236I	probably damaging	Het
Ago4	A	G	4: 126,387,107 (GRCm39)	V832A	probably benign	Het
Atp9a	C	A	2: 168,482,600 (GRCm39)	V845L	probably benign	Het
Cfap100	C	T	6: 90,392,787 (GRCm39)	E108K	probably benign	Het
Chrdl2	T	A	7: 99,655,860 (GRCm39)		probably null	Het
Cibar2	T	C	8: 120,893,429 (GRCm39)	Q254R	probably benign	Het
Cilk1	A	G	9: 78,071,821 (GRCm39)	I498V	probably benign	Het
Erbb4	A	T	1: 68,110,789 (GRCm39)	L1008*	probably null	Het
Gm42688	C	T	6: 83,080,373 (GRCm39)		probably benign	Het
H2-Eb2	T	A	17: 34,544,771 (GRCm39)		probably null	Het
Hmcn2	T	C	2: 31,233,108 (GRCm39)	V219A	probably damaging	Het
Hsf2	C	T	10: 57,388,196 (GRCm39)	P447S	probably damaging	Het
Hsph1	A	T	5: 149,554,269 (GRCm39)	I162N	probably damaging	Het
Il12rb2	T	C	6: 67,337,561 (GRCm39)	T107A	probably damaging	Het
Lnx1	T	A	5: 74,846,378 (GRCm39)	N24I	probably benign	Het
Mgat3	C	A	15: 80,096,634 (GRCm39)	A487D	probably damaging	Het
Or10h5	C	T	17: 33,434,947 (GRCm39)	V124M	probably benign	Het
Or52ae9	T	A	7: 103,390,172 (GRCm39)	I92F	probably benign	Het
Or6b2	T	C	1: 92,407,746 (GRCm39)	D199G	probably damaging	Het
Or6c65	T	A	10: 129,603,455 (GRCm39)	L30Q	probably null	Het
Ppargc1b	A	G	18: 61,456,235 (GRCm39)	Y75H	probably damaging	Het
Rgl2	G	T	17: 34,154,910 (GRCm39)	C638F	probably benign	Het
Rhpn1	C	A	15: 75,583,735 (GRCm39)	R407S	probably damaging	Het
Sipa1l2	A	G	8: 126,174,613 (GRCm39)	S1222P	probably benign	Het
Tango6	T	A	8: 107,468,642 (GRCm39)		probably benign	Het
Tonsl	G	A	15: 76,516,080 (GRCm39)		probably benign	Het
Vmn1r77	G	A	7: 11,775,223 (GRCm39)		probably null	Het
Vmn2r13	A	C	5: 109,303,964 (GRCm39)	F822L	probably damaging	Het

Other mutations in Ankrd26

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01286:Ankrd26	APN	6	118,536,068 (GRCm39)	missense	probably damaging	1.00
IGL01574:Ankrd26	APN	6	118,516,659 (GRCm39)	missense	probably damaging	1.00
IGL01727:Ankrd26	APN	6	118,488,597 (GRCm39)	missense	probably damaging	1.00
IGL01954:Ankrd26	APN	6	118,535,966 (GRCm39)	missense	possibly damaging	0.62
IGL02200:Ankrd26	APN	6	118,536,302 (GRCm39)	missense	probably damaging	1.00
IGL02708:Ankrd26	APN	6	118,495,379 (GRCm39)	splice site	probably benign
IGL02973:Ankrd26	APN	6	118,500,511 (GRCm39)	missense	probably damaging	0.98
IGL03233:Ankrd26	APN	6	118,512,107 (GRCm39)	splice site	probably null
guillemot	UTSW	6	118,484,598 (GRCm39)	critical splice donor site	probably null
Iceland	UTSW	6	118,526,389 (GRCm39)	missense	probably benign	0.30
murre	UTSW	6	118,526,598 (GRCm39)	critical splice donor site	probably null
ANU74:Ankrd26	UTSW	6	118,529,736 (GRCm39)	missense	probably benign	0.02
N/A:Ankrd26	UTSW	6	118,506,535 (GRCm39)	missense	probably benign	0.04
R0078:Ankrd26	UTSW	6	118,512,030 (GRCm39)	splice site	probably benign
R0083:Ankrd26	UTSW	6	118,500,215 (GRCm39)	missense	probably benign	0.36
R0165:Ankrd26	UTSW	6	118,517,445 (GRCm39)	missense	probably benign	0.01
R0344:Ankrd26	UTSW	6	118,484,598 (GRCm39)	critical splice donor site	probably null
R0828:Ankrd26	UTSW	6	118,510,434 (GRCm39)	splice site	probably benign
R1532:Ankrd26	UTSW	6	118,499,919 (GRCm39)	missense	probably damaging	1.00
R1809:Ankrd26	UTSW	6	118,502,883 (GRCm39)	splice site	probably benign
R1875:Ankrd26	UTSW	6	118,517,410 (GRCm39)	critical splice donor site	probably null
R1940:Ankrd26	UTSW	6	118,488,654 (GRCm39)	missense	probably damaging	1.00
R2164:Ankrd26	UTSW	6	118,502,752 (GRCm39)	missense	probably damaging	1.00
R2202:Ankrd26	UTSW	6	118,500,843 (GRCm39)	missense	possibly damaging	0.79
R2204:Ankrd26	UTSW	6	118,500,843 (GRCm39)	missense	possibly damaging	0.79
R2205:Ankrd26	UTSW	6	118,500,843 (GRCm39)	missense	possibly damaging	0.79
R3107:Ankrd26	UTSW	6	118,533,204 (GRCm39)	missense	probably benign	0.01
R3419:Ankrd26	UTSW	6	118,512,068 (GRCm39)	missense	probably damaging	1.00
R3552:Ankrd26	UTSW	6	118,484,737 (GRCm39)	missense	probably damaging	1.00
R3899:Ankrd26	UTSW	6	118,526,389 (GRCm39)	missense	probably benign	0.30
R4157:Ankrd26	UTSW	6	118,484,782 (GRCm39)	missense	probably damaging	1.00
R4194:Ankrd26	UTSW	6	118,500,639 (GRCm39)	missense	probably benign	0.21
R4230:Ankrd26	UTSW	6	118,536,349 (GRCm39)	splice site	probably null
R4651:Ankrd26	UTSW	6	118,492,787 (GRCm39)	missense	probably benign	0.03
R4701:Ankrd26	UTSW	6	118,483,446 (GRCm39)	missense	possibly damaging	0.65
R4747:Ankrd26	UTSW	6	118,504,718 (GRCm39)	missense	probably benign	0.01
R4752:Ankrd26	UTSW	6	118,517,426 (GRCm39)	missense	probably null	1.00
R4834:Ankrd26	UTSW	6	118,500,679 (GRCm39)	missense	probably benign	0.08
R4835:Ankrd26	UTSW	6	118,525,811 (GRCm39)	nonsense	probably null
R4849:Ankrd26	UTSW	6	118,509,257 (GRCm39)	missense	probably benign	0.00
R5149:Ankrd26	UTSW	6	118,535,957 (GRCm39)	missense	probably benign	0.05
R5389:Ankrd26	UTSW	6	118,485,536 (GRCm39)	missense	possibly damaging	0.82
R5473:Ankrd26	UTSW	6	118,492,797 (GRCm39)	missense	probably benign	0.04
R5518:Ankrd26	UTSW	6	118,525,869 (GRCm39)	missense	probably benign	0.00
R5525:Ankrd26	UTSW	6	118,504,692 (GRCm39)	missense	probably benign	0.00
R5608:Ankrd26	UTSW	6	118,488,583 (GRCm39)	missense	probably damaging	1.00
R5639:Ankrd26	UTSW	6	118,516,685 (GRCm39)	missense	possibly damaging	0.72
R5704:Ankrd26	UTSW	6	118,500,843 (GRCm39)	missense	probably damaging	0.96
R5927:Ankrd26	UTSW	6	118,484,597 (GRCm39)	critical splice donor site	probably null
R5943:Ankrd26	UTSW	6	118,482,707 (GRCm39)	missense	probably damaging	1.00
R5976:Ankrd26	UTSW	6	118,494,855 (GRCm39)	critical splice donor site	probably null
R6181:Ankrd26	UTSW	6	118,525,838 (GRCm39)	missense	probably benign	0.15
R6478:Ankrd26	UTSW	6	118,488,599 (GRCm39)	missense	probably benign	0.28
R6667:Ankrd26	UTSW	6	118,484,749 (GRCm39)	missense	probably benign	0.02
R6865:Ankrd26	UTSW	6	118,500,442 (GRCm39)	missense	possibly damaging	0.90
R7224:Ankrd26	UTSW	6	118,516,688 (GRCm39)	missense	probably benign	0.07
R7287:Ankrd26	UTSW	6	118,526,598 (GRCm39)	critical splice donor site	probably null
R7301:Ankrd26	UTSW	6	118,488,624 (GRCm39)	missense	possibly damaging	0.62
R7348:Ankrd26	UTSW	6	118,485,525 (GRCm39)	missense	probably damaging	1.00
R7414:Ankrd26	UTSW	6	118,485,741 (GRCm39)	missense	possibly damaging	0.60
R7789:Ankrd26	UTSW	6	118,504,760 (GRCm39)	missense	possibly damaging	0.82
R7789:Ankrd26	UTSW	6	118,504,759 (GRCm39)	missense	probably damaging	0.98
R7964:Ankrd26	UTSW	6	118,500,160 (GRCm39)	missense	probably benign	0.03
R8078:Ankrd26	UTSW	6	118,494,854 (GRCm39)	splice site	probably null
R8224:Ankrd26	UTSW	6	118,502,716 (GRCm39)	missense	probably damaging	1.00
R8917:Ankrd26	UTSW	6	118,535,902 (GRCm39)	missense	probably damaging	1.00
R8962:Ankrd26	UTSW	6	118,512,104 (GRCm39)	missense	probably benign	0.02
R9072:Ankrd26	UTSW	6	118,500,350 (GRCm39)	missense	probably damaging	1.00
R9073:Ankrd26	UTSW	6	118,500,350 (GRCm39)	missense	probably damaging	1.00
R9087:Ankrd26	UTSW	6	118,536,230 (GRCm39)	critical splice donor site	probably null
R9334:Ankrd26	UTSW	6	118,509,262 (GRCm39)	missense	probably benign
R9417:Ankrd26	UTSW	6	118,504,725 (GRCm39)	missense	possibly damaging	0.46
R9521:Ankrd26	UTSW	6	118,517,420 (GRCm39)	missense	possibly damaging	0.94
R9720:Ankrd26	UTSW	6	118,498,902 (GRCm39)	missense	probably damaging	1.00
R9766:Ankrd26	UTSW	6	118,500,067 (GRCm39)	missense	possibly damaging	0.86
X0028:Ankrd26	UTSW	6	118,484,722 (GRCm39)	missense	probably damaging	1.00
Z1177:Ankrd26	UTSW	6	118,500,493 (GRCm39)	missense	possibly damaging	0.77
Z1177:Ankrd26	UTSW	6	118,500,556 (GRCm39)	missense	probably damaging	0.99

Posted On

2013-04-17