Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01727:Ankrd26'

105335

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 #

IGL01727

Quality Score

Status

Chromosome

Chromosomal Location

118478269-118539187 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 118488597 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Proline at position 1354 (L1354P)

Ref Sequence

ENSEMBL: ENSMUSP00000108449 (fasta)

Gene Model

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

AlphaFold

no structure available at present

Predicted Effect

probably damaging
Transcript: ENSMUST00000112830
AA Change: L1354P

PolyPhen 2 Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000108449
Gene: ENSMUSG00000007827
AA Change: L1354P

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: 38 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adam19	C	T	11: 46,012,380 (GRCm39)	A292V	probably benign	Het
Aox1	T	A	1: 58,112,387 (GRCm39)	C720*	probably null	Het
Aqp5	T	C	15: 99,489,502 (GRCm39)	L117P	probably damaging	Het
Ccn3	G	A	15: 54,609,634 (GRCm39)	A45T	probably benign	Het
Col9a3	T	C	2: 180,258,358 (GRCm39)		probably null	Het
Ctrc	T	C	4: 141,571,072 (GRCm39)	Y56C	probably damaging	Het
Dsc2	T	A	18: 20,171,257 (GRCm39)	T581S	probably benign	Het
Grap2	T	C	15: 80,518,610 (GRCm39)	I51T	probably damaging	Het
Herc2	A	G	7: 55,787,554 (GRCm39)	Y1737C	probably damaging	Het
Hook3	A	G	8: 26,560,187 (GRCm39)	M346T	probably benign	Het
Lancl1	C	T	1: 67,060,101 (GRCm39)	C108Y	probably damaging	Het
Lpin2	T	C	17: 71,553,447 (GRCm39)	C824R	probably damaging	Het
Mlip	T	C	9: 77,147,030 (GRCm39)	S88G	probably damaging	Het
Mtdh	T	G	15: 34,083,255 (GRCm39)	L25R	probably damaging	Het
Musk	A	G	4: 58,303,887 (GRCm39)	I177V	probably benign	Het
Obi1	G	A	14: 104,716,823 (GRCm39)	R517*	probably null	Het
Or12e13	T	C	2: 87,663,844 (GRCm39)	S154P	probably damaging	Het
Or4c100	A	G	2: 88,356,271 (GRCm39)	M115V	probably benign	Het
Or9i16	A	G	19: 13,865,242 (GRCm39)	C111R	probably damaging	Het
Pabpc4l	C	A	3: 46,401,100 (GRCm39)	E181D	probably damaging	Het
Pcdh18	A	G	3: 49,710,149 (GRCm39)	S389P	probably damaging	Het
Ptk7	A	G	17: 46,883,474 (GRCm39)	Y864H	probably damaging	Het
Rbp4	A	G	19: 38,112,500 (GRCm39)	V155A	probably benign	Het
Rilpl1	C	T	5: 124,669,007 (GRCm39)	A14T	possibly damaging	Het
Rnf148	T	A	6: 23,655,001 (GRCm39)		probably benign	Het
Ska2	T	A	11: 87,006,973 (GRCm39)	L26Q	probably damaging	Het
Slc29a2	T	A	19: 5,076,486 (GRCm39)	F125I	probably damaging	Het
Smap2	A	G	4: 120,839,405 (GRCm39)		probably benign	Het
St6galnac2	C	T	11: 116,575,945 (GRCm39)	D169N	probably damaging	Het
Supt7l	A	G	5: 31,677,686 (GRCm39)	V160A	possibly damaging	Het
Susd1	A	G	4: 59,412,329 (GRCm39)		probably benign	Het
Syne1	T	C	10: 4,997,842 (GRCm39)	D375G	probably damaging	Het
Thoc2l	A	G	5: 104,667,379 (GRCm39)	T634A	probably benign	Het
Tpst2	G	A	5: 112,457,724 (GRCm39)	D351N	probably damaging	Het
Trcg1	T	C	9: 57,149,556 (GRCm39)	I376T	probably benign	Het
Trcg1	T	A	9: 57,149,877 (GRCm39)	I483N	probably damaging	Het
Tsga10	T	C	1: 37,874,355 (GRCm39)	E148G	probably damaging	Het
Zranb1	G	T	7: 132,568,349 (GRCm39)	D336Y	probably damaging	Het

Other mutations in Ankrd26

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00965:Ankrd26	APN	6	118,536,319 (GRCm39)	nonsense	probably null
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
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

2014-01-21