Mutagenetix > Incidental Mutation

Incidental Mutation 'R4157:Ankrd26'

315578

Institutional Source

Beutler Lab

Gene Symbol

Ankrd26

Ensembl Gene

ENSMUSG00000007827

Gene Name

ankyrin repeat domain 26

Synonyms

5730521P14Rik

MMRRC Submission

041000-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R4157 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

118478269-118539187 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 118484782 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamine to Leucine at position 1485 (Q1485L)

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: Q1485L

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000108449
Gene: ENSMUSG00000007827
AA Change: Q1485L

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

0.3737

Coding Region Coverage

1x: 99.3%
3x: 98.7%
10x: 97.6%
20x: 96.1%

Validation Efficiency

95% (52/55)

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: 47 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adamts7	G	T	9: 90,070,414 (GRCm39)	R585L	probably damaging	Het
Adamtsl5	C	T	10: 80,181,156 (GRCm39)	R75Q	probably null	Het
Apbb2	G	A	5: 66,459,947 (GRCm39)	R717*	probably null	Het
Arl6ip1	AAAATAAATAAATAAATAAATAAATA	AAAATAAATAAATAAATAAATAAATAAATA	7: 117,721,122 (GRCm39)		probably benign	Het
Atp8b5	A	G	4: 43,365,591 (GRCm39)	E735G	probably damaging	Het
Bcl11b	A	T	12: 107,883,684 (GRCm39)		probably null	Het
C4b	A	G	17: 34,961,829 (GRCm39)	I139T	probably damaging	Het
Ccpg1	C	A	9: 72,919,449 (GRCm39)	Q355K	probably benign	Het
Cdk8	A	T	5: 146,236,259 (GRCm39)		probably benign	Het
Ctif	T	C	18: 75,568,341 (GRCm39)	H599R	probably benign	Het
Degs1	A	G	1: 182,110,192 (GRCm39)	I26T	possibly damaging	Het
Dnajc4	T	C	19: 6,967,208 (GRCm39)	N72S	probably damaging	Het
Ecd	A	G	14: 20,374,632 (GRCm39)	S503P	probably damaging	Het
Gm3486	G	A	14: 41,208,343 (GRCm39)	L123F	probably benign	Het
Inpp5f	C	T	7: 128,281,423 (GRCm39)		probably benign	Het
Irx4	A	T	13: 73,413,662 (GRCm39)	Q44L	probably benign	Het
Krt9	T	A	11: 100,079,475 (GRCm39)	Y639F	unknown	Het
Lgals9	C	A	11: 78,863,933 (GRCm39)	V71L	possibly damaging	Het
Mdga1	T	C	17: 30,052,317 (GRCm39)	N143S	probably benign	Het
Ndufs4	A	T	13: 114,444,390 (GRCm39)	S129R	probably benign	Het
Nup50l	C	G	6: 96,142,264 (GRCm39)	W260S	possibly damaging	Het
Oog2	A	G	4: 143,920,523 (GRCm39)		probably benign	Het
Orm2	T	A	4: 63,282,222 (GRCm39)	F133L	probably null	Het
Pasd1	T	C	X: 70,983,161 (GRCm39)	C378R	possibly damaging	Het
Pidd1	A	G	7: 141,021,279 (GRCm39)	V333A	possibly damaging	Het
Ppp4r3a	A	G	12: 101,021,878 (GRCm39)	F341L	probably damaging	Het
Rab11fip1	A	T	8: 27,642,175 (GRCm39)	S875T	probably damaging	Het
Rpap1	C	T	2: 119,604,660 (GRCm39)	R416H	probably damaging	Het
Rpl31-ps17	C	T	12: 54,748,397 (GRCm39)		noncoding transcript	Het
Shroom3	G	T	5: 93,090,945 (GRCm39)	V1151F	probably damaging	Het
Snx22	T	C	9: 65,975,493 (GRCm39)	Y92C	probably damaging	Het
Srgn	A	G	10: 62,333,613 (GRCm39)	F55L	possibly damaging	Het
Swt1	A	T	1: 151,278,795 (GRCm39)	V454E	probably damaging	Het
Tmem54	G	A	4: 129,004,504 (GRCm39)	R151Q	probably damaging	Het
Tns1	T	A	1: 73,953,790 (GRCm39)	N1848Y	probably damaging	Het
Tns2	C	T	15: 102,017,369 (GRCm39)	R281C	probably damaging	Het
Top2b	A	G	14: 16,384,491 (GRCm38)	N80S	probably benign	Het
Trim7	T	C	11: 48,738,920 (GRCm39)	V313A	probably benign	Het
Uaca	A	G	9: 60,779,035 (GRCm39)	S1141G	probably benign	Het
Ubr3	T	C	2: 69,790,013 (GRCm39)		probably null	Het
Utp20	A	G	10: 88,597,729 (GRCm39)	V121A	probably benign	Het
Wdr20	G	A	12: 110,704,608 (GRCm39)	R49H	possibly damaging	Het
Ylpm1	T	C	12: 85,104,177 (GRCm39)		probably benign	Het
Zfp398	A	T	6: 47,812,843 (GRCm39)	T5S	probably benign	Het
Zfp410	G	A	12: 84,374,206 (GRCm39)	R181H	probably damaging	Het
Zfp523	C	T	17: 28,421,257 (GRCm39)	A367V	probably benign	Het
Zfp748	G	A	13: 67,690,225 (GRCm39)	S345L	possibly 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
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

Predicted Primers

PCR Primer
(F):5'- TGACAGCGATTTTCTAGCTCTG -3'
(R):5'- CACTGTGTGCCTATGTGTCG -3'

Sequencing Primer
(F):5'- AGCTCTGAACTCTTCCTGGTAGAG -3'
(R):5'- TTCAGTTAGCATGCACCAGG -3'

Posted On

2015-05-14