Mutagenetix > Incidental Mutation

Incidental Mutation 'R5608:Ankrd26'

439383

Institutional Source

Beutler Lab

Gene Symbol

Ankrd26

Ensembl Gene

ENSMUSG00000007827

Gene Name

ankyrin repeat domain 26

Synonyms

5730521P14Rik

MMRRC Submission

043272-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R5608 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

118478269-118539187 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to A at 118488583 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Tyrosine at position 1359 (D1359Y)

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: D1359Y

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

SMART Domains

Protein: ENSMUSP00000108449
Gene: ENSMUSG00000007827
AA Change: D1359Y

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

Meta Mutation Damage Score

0.3817

Coding Region Coverage

1x: 99.9%
3x: 99.6%
10x: 98.2%
20x: 94.9%

Validation Efficiency

95% (54/57)

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: 48 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adamtsl5	T	C	10: 80,178,781 (GRCm39)	D199G	probably benign	Het
Adgrl1	G	T	8: 84,663,886 (GRCm39)	G1118W	probably damaging	Het
Adgrv1	T	C	13: 81,303,395 (GRCm39)	E117G	probably damaging	Het
Alkbh7	A	T	17: 57,305,446 (GRCm39)	I88F	probably damaging	Het
Apoo-ps	T	C	13: 107,550,709 (GRCm39)		noncoding transcript	Het
Arfgap2	G	A	2: 91,100,547 (GRCm39)	R298H	probably damaging	Het
Birc6	G	A	17: 74,920,539 (GRCm39)	V2109I	probably damaging	Het
Blvrb	C	T	7: 27,158,894 (GRCm39)	P98L	probably benign	Het
Bmpr1b	C	A	3: 141,563,283 (GRCm39)	M220I	possibly damaging	Het
Bpifa1	T	C	2: 153,989,495 (GRCm39)		probably benign	Het
Capn7	A	G	14: 31,092,664 (GRCm39)	Y737C	probably damaging	Het
Cdh13	A	T	8: 119,484,213 (GRCm39)	D158V	probably benign	Het
Cenpe	C	A	3: 134,940,837 (GRCm39)	S662*	probably null	Het
Colec12	T	A	18: 9,848,267 (GRCm39)	D148E	possibly damaging	Het
Dennd5a	C	A	7: 109,518,630 (GRCm39)	E480*	probably null	Het
Dpysl4	T	C	7: 138,678,459 (GRCm39)	V473A	probably damaging	Het
Dyrk3	T	C	1: 131,056,452 (GRCm39)	S574G	probably benign	Het
Fchsd1	C	T	18: 38,092,926 (GRCm39)		probably benign	Het
H2-Aa	T	C	17: 34,502,816 (GRCm39)	T117A	possibly damaging	Het
Helq	C	T	5: 100,938,085 (GRCm39)	G454S	probably damaging	Het
Incenp	CGCTGCTGCTGC	CGCTGCTGCTGCTGC	19: 9,871,232 (GRCm39)		probably benign	Het
Ktn1	TTGTTGTCTTTGTGTT	TTGTT	14: 47,971,554 (GRCm39)		probably benign	Het
Lig1	C	A	7: 13,039,933 (GRCm39)	T715N	probably damaging	Het
Lrrc31	C	A	3: 30,743,994 (GRCm39)		probably null	Het
Ltbp2	A	C	12: 84,834,238 (GRCm39)		probably null	Het
Marcks	A	T	10: 37,012,912 (GRCm39)	V41E	probably damaging	Het
Mex3c	T	A	18: 73,723,014 (GRCm39)	M369K	possibly damaging	Het
Msh6	A	G	17: 88,294,329 (GRCm39)	D1028G	probably damaging	Het
Nhlrc3	C	T	3: 53,369,732 (GRCm39)		probably null	Het
Or1n1b	A	G	2: 36,780,527 (GRCm39)	F111S	probably damaging	Het
Or52s1b	T	C	7: 102,822,056 (GRCm39)	T263A	probably damaging	Het
Or52z12	G	A	7: 103,233,506 (GRCm39)	W92*	probably null	Het
Or8b8	G	A	9: 37,809,078 (GRCm39)	C126Y	probably damaging	Het
Pcdhga6	A	G	18: 37,840,514 (GRCm39)	N78S	possibly damaging	Het
Plag1	T	A	4: 3,905,463 (GRCm39)	K76*	probably null	Het
Ptpn21	T	A	12: 98,655,036 (GRCm39)	T644S	probably benign	Het
Qrfpr	A	G	3: 36,235,114 (GRCm39)	V292A	possibly damaging	Het
Rbbp6	T	A	7: 122,596,309 (GRCm39)	V617E	probably damaging	Het
Rnf157	A	T	11: 116,287,146 (GRCm39)		probably null	Het
Serpina5	A	C	12: 104,070,003 (GRCm39)	Y300S	probably damaging	Het
Slc41a3	A	G	6: 90,617,889 (GRCm39)	K279R	probably benign	Het
Smndc1	A	G	19: 53,372,084 (GRCm39)	V110A	probably benign	Het
Spata31e2	T	C	1: 26,722,129 (GRCm39)	Q1017R	probably damaging	Het
Tubgcp6	A	G	15: 88,995,353 (GRCm39)	V419A	probably benign	Het
Uggt2	C	T	14: 119,326,611 (GRCm39)	G200D	possibly damaging	Het
Utrn	A	T	10: 12,547,581 (GRCm39)	S1620T	probably benign	Het
Xkr4	T	C	1: 3,741,603 (GRCm39)		probably benign	Het
Zscan22	G	A	7: 12,640,919 (GRCm39)	G388S	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
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
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

Predicted Primers

PCR Primer
(F):5'- CAGATGTAAGACTCAACAGTACATC -3'
(R):5'- AACTCTGCCTCCCATGCATAG -3'

Sequencing Primer
(F):5'- CTTCAATGCATCCACAGA -3'
(R):5'- TGAACCGCTTGCTCTCAAAG -3'

Posted On

2016-10-26