Mutagenetix > Incidental Mutation

Incidental Mutation 'R6667:Ankrd26'

527018

Institutional Source

Beutler Lab

Gene Symbol

Ankrd26

Ensembl Gene

ENSMUSG00000007827

Gene Name

ankyrin repeat domain 26

Synonyms

5730521P14Rik

MMRRC Submission

044787-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R6667 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

118478269-118539187 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 118484749 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Asparagine at position 1496 (S1496N)

Ref Sequence

ENSEMBL: ENSMUSP00000108449 (fasta)

Gene Model

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

AlphaFold

no structure available at present

Predicted Effect

probably benign
Transcript: ENSMUST00000112830
AA Change: S1496N

PolyPhen 2 Score 0.024 (Sensitivity: 0.95; Specificity: 0.81)

SMART Domains

Protein: ENSMUSP00000108449
Gene: ENSMUSG00000007827
AA Change: S1496N

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

1x: 99.9%
3x: 99.6%
10x: 98.1%
20x: 94.6%

Validation Efficiency

98% (41/42)

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: 44 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
3100002H09Rik	G	T	4: 124,504,435 (GRCm39)	A39E	probably damaging	Het
Agtr1b	T	A	3: 20,369,913 (GRCm39)	N231I	possibly damaging	Het
Alpk2	T	C	18: 65,440,811 (GRCm39)	E661G	probably damaging	Het
Asah2	T	C	19: 31,972,758 (GRCm39)	N659S	probably benign	Het
Atp12a	T	C	14: 56,621,645 (GRCm39)	V760A	possibly damaging	Het
Casp2	T	C	6: 42,256,770 (GRCm39)	C343R	probably damaging	Het
Cblb	T	A	16: 51,973,007 (GRCm39)	M446K	possibly damaging	Het
Cipc	T	C	12: 87,008,864 (GRCm39)	V241A	probably benign	Het
Ddit4l	A	G	3: 137,331,882 (GRCm39)	K83E	probably benign	Het
Eif1ad10	A	T	12: 88,216,475 (GRCm39)	D132E	unknown	Het
Epc2	A	G	2: 49,412,681 (GRCm39)	T220A	probably damaging	Het
Epha5	T	C	5: 84,219,050 (GRCm39)	D741G	probably damaging	Het
Flg2	A	T	3: 93,109,068 (GRCm39)	R365S	possibly damaging	Het
Ggn	A	T	7: 28,872,093 (GRCm39)	H491L	possibly damaging	Het
Gpat2	G	C	2: 127,273,838 (GRCm39)	G294R	possibly damaging	Het
Ighv6-4	A	G	12: 114,370,152 (GRCm39)	V100A	probably benign	Het
Invs	A	T	4: 48,402,870 (GRCm39)	Y501F	possibly damaging	Het
Iqcm	G	T	8: 76,479,980 (GRCm39)	G313W	probably damaging	Het
Jph2	A	G	2: 163,218,206 (GRCm39)	S157P	probably damaging	Het
Mast4	T	C	13: 102,874,004 (GRCm39)	E1596G	probably damaging	Het
Mllt6	T	A	11: 97,567,760 (GRCm39)	L759Q	probably damaging	Het
Nalcn	A	G	14: 123,558,735 (GRCm39)	L837P	probably damaging	Het
Neb	G	A	2: 52,037,201 (GRCm39)	T6836I	probably damaging	Het
Nol12	T	A	15: 78,824,280 (GRCm39)	D133E	probably benign	Het
Or5w13	A	G	2: 87,523,914 (GRCm39)	V104A	probably benign	Het
Oxtr	C	A	6: 112,454,060 (GRCm39)		probably benign	Het
Pcmt1	A	G	10: 7,538,913 (GRCm39)	L38P	probably damaging	Het
Pik3r2	T	C	8: 71,221,817 (GRCm39)	Y617C	probably damaging	Het
Potefam3b	T	C	8: 21,161,955 (GRCm39)	S267P	probably benign	Het
Prl7a2	T	C	13: 27,845,024 (GRCm39)	N121D	probably benign	Het
Pvr	G	T	7: 19,639,727 (GRCm39)	Q380K	probably benign	Het
Rtn2	A	G	7: 19,021,184 (GRCm39)	E188G	probably benign	Het
Setd4	C	A	16: 93,386,918 (GRCm39)	R260L	probably benign	Het
Six5	A	G	7: 18,830,494 (GRCm39)	N374D	probably benign	Het
Slc9b1	T	C	3: 135,077,726 (GRCm39)	I140T	probably damaging	Het
Supt16	A	G	14: 52,409,520 (GRCm39)	F797L	probably damaging	Het
Tbata	T	C	10: 61,021,142 (GRCm39)	L262P	probably damaging	Het
Tti1	A	T	2: 157,850,347 (GRCm39)	C297*	probably null	Het
Ush1c	C	A	7: 45,875,048 (GRCm39)	G139C	probably damaging	Het
Vmn1r1	C	T	1: 181,985,342 (GRCm39)	V108I	probably benign	Het
Vmn2r116	C	T	17: 23,620,066 (GRCm39)	T600I	probably damaging	Het
Zfp764l1	A	G	7: 126,992,595 (GRCm39)	M5T	probably benign	Het
Zfp873	A	G	10: 81,896,423 (GRCm39)	T422A	probably benign	Het
Zfp943	G	A	17: 22,211,889 (GRCm39)	C325Y	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
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
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'- CCTAGTCTCACTGAAGACGATG -3'
(R):5'- CTGTCTTAATCCCAGCATCAGC -3'

Sequencing Primer
(F):5'- TGTAGAGCTAAAGCCCCGAGTTTC -3'
(R):5'- TTAATCCCAGCATCAGCATCTG -3'

Posted On

2018-07-23