Mutagenetix > Incidental Mutation

Incidental Mutation 'R7789:Ankrd26'

599729

Institutional Source

Beutler Lab

Gene Symbol

Ankrd26

Ensembl Gene

ENSMUSG00000007827

Gene Name

ankyrin repeat domain 26

Synonyms

5730521P14Rik

MMRRC Submission

Accession Numbers

Genbank: NM_001081112;MGI: 1917887

Is this an essential gene?

Non essential (E-score: 0.000) question?

Stock #

R7789 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

118501308-118562226 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

G to T at 118527798 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Histidine to Asparagine at position 717 (H717N)

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: H717N

PolyPhen 2 Score 0.975 (Sensitivity: 0.76; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000108449
Gene: ENSMUSG00000007827
AA Change: H717N

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: 100.0%
3x: 99.9%
10x: 99.6%
20x: 98.5%

Validation Efficiency

99% (77/78)

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: 75 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930562C15Rik	G	A	16: 4,864,311	E163K	probably benign	Het
Adam34	T	A	8: 43,652,451	R52S	probably benign	Het
Adcy8	A	T	15: 64,871,774	C328*	probably null	Het
Ankrd40	C	A	11: 94,334,709	P189T	probably damaging	Het
Anln	A	G	9: 22,352,037	S113P		Het
Arid5b	C	T	10: 68,098,587	G495E	probably benign	Het
Asxl1	C	T	2: 153,400,023	T832I	probably benign	Het
Bicd2	C	T	13: 49,379,659	R574C	probably damaging	Het
Boll	T	C	1: 55,360,667		probably null	Het
Casr	A	G	16: 36,495,291	F806L	probably damaging	Het
Casz1	C	A	4: 148,929,406	N142K	probably benign	Het
Cbl	C	T	9: 44,163,467	D433N	probably damaging	Het
Ceacam14	T	A	7: 17,814,171	V62D	probably damaging	Het
Chst10	T	C	1: 38,884,451	N18S	probably benign	Het
Cyp2j6	C	T	4: 96,545,716	R119H	probably benign	Het
Cyp4a14	C	G	4: 115,494,910	V102L	probably benign	Het
Dnajb3	A	T	1: 88,205,677	M1K	probably null	Het
Dnajc6	A	T	4: 101,618,532	K534M	possibly damaging	Het
Dnase2a	T	C	8: 84,908,876		probably null	Het
Dock10	A	G	1: 80,559,213	I985T	possibly damaging	Het
Emsy	G	T	7: 98,621,489	P436Q	probably damaging	Het
Enpp1	A	T	10: 24,654,083		probably null	Het
Erc1	T	A	6: 119,773,709	R353*	probably null	Het
Fam196b	T	A	11: 34,402,537	M193K	probably benign	Het
Fbn2	T	A	18: 58,039,313	D2140V	probably benign	Het
Fgfr1	T	A	8: 25,562,313	Y218*	probably null	Het
Fhod1	C	T	8: 105,330,108	R1045H	probably damaging	Het
Focad	G	T	4: 88,229,406	L427F	unknown	Het
Gbf1	T	A	19: 46,254,002	L144M	probably damaging	Het
Glmn	T	G	5: 107,549,075	N592T	probably benign	Het
Golgb1	C	G	16: 36,875,399	P87A	unknown	Het
H2bfm	G	A	X: 136,927,722	R120K	unknown	Het
Itga9	T	G	9: 118,658,496	F216V	possibly damaging	Het
Klhl18	T	C	9: 110,439,008	D149G	unknown	Het
Lcat	C	T	8: 105,942,225	V114M	probably benign	Het
Lrrc8c	C	A	5: 105,607,200	N280K	probably damaging	Het
Mettl8	T	C	2: 70,966,462	Y283C	probably damaging	Het
Mgat4a	A	T	1: 37,490,279	I173K	probably damaging	Het
Mmp1a	T	C	9: 7,475,265	V345A	possibly damaging	Het
Mok	T	A	12: 110,811,827	H215L	probably damaging	Het
Mphosph9	C	G	5: 124,315,587	E221Q	probably damaging	Het
Muc4	C	G	16: 32,753,930	Q1269E	probably benign	Het
Mug1	C	A	6: 121,861,220	H470N	possibly damaging	Het
Myom1	A	G	17: 71,117,436	T1525A	probably benign	Het
Nap1l1	C	T	10: 111,490,456	S143L	probably benign	Het
Olfr366	C	T	2: 37,219,660	T57I	probably benign	Het
Olfr531	A	T	7: 140,400,697	Y116*	probably null	Het
Olfr646	T	A	7: 104,106,988	S236R	probably damaging	Het
Olfr847	G	T	9: 19,375,065	T272K	probably benign	Het
Plbd2	T	C	5: 120,485,754	S568G	probably damaging	Het
Plxna4	T	A	6: 32,206,233		probably null	Het
Plxnc1	T	A	10: 94,794,477	E1520V	probably damaging	Het
Ppil3	G	A	1: 58,434,379	T104I	possibly damaging	Het
Ptprm	A	T	17: 67,095,539	V118E	probably damaging	Het
Rimbp2	T	C	5: 128,774,335	D849G	probably damaging	Het
Rnf213	T	C	11: 119,470,219		probably null	Het
Sema3f	T	A	9: 107,705,432	K37N	probably benign	Het
Sh3glb1	G	T	3: 144,692,131		probably null	Het
Sh3rf3	A	G	10: 59,086,815	D571G	probably benign	Het
Sipa1l3	T	C	7: 29,377,725	Y874C	probably damaging	Het
Smchd1	G	A	17: 71,475,301		probably benign	Het
Snrnp70	A	T	7: 45,376,621	Y441*	probably null	Het
Ssrp1	C	T	2: 85,041,181	R316W	probably damaging	Het
Syt10	A	T	15: 89,826,898	V144E	probably damaging	Het
Tdrd12	A	G	7: 35,488,692	L562P		Het
Trim68	T	C	7: 102,684,469	D2G	possibly damaging	Het
Trub2	T	A	2: 29,777,908	H240L	probably damaging	Het
Tssc4	A	G	7: 143,069,778		probably null	Het
Usp7	T	A	16: 8,698,811	Q539L	probably benign	Het
Vmn2r17	T	A	5: 109,452,965	C710S	possibly damaging	Het
Vmn2r99	G	T	17: 19,393,817	V600F	possibly damaging	Het
Vps13d	C	T	4: 145,100,065	V2879M		Het
Vrtn	T	A	12: 84,650,306	M610K	probably benign	Het
Xpo4	T	C	14: 57,613,349	E366G	probably benign	Het
Zyg11a	G	A	4: 108,183,648	P703S	probably damaging	Het

Other mutations in Ankrd26

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00965:Ankrd26	APN	6	118559358	nonsense	probably null
IGL01286:Ankrd26	APN	6	118559107	missense	probably damaging	1.00
IGL01574:Ankrd26	APN	6	118539698	missense	probably damaging	1.00
IGL01727:Ankrd26	APN	6	118511636	missense	probably damaging	1.00
IGL01954:Ankrd26	APN	6	118559005	missense	possibly damaging	0.62
IGL02200:Ankrd26	APN	6	118559341	missense	probably damaging	1.00
IGL02708:Ankrd26	APN	6	118518418	splice site	probably benign
IGL02973:Ankrd26	APN	6	118523550	missense	probably damaging	0.98
IGL03233:Ankrd26	APN	6	118535146	splice site	probably null
guillemot	UTSW	6	118507637	critical splice donor site	probably null
Iceland	UTSW	6	118549428	missense	probably benign	0.30
murre	UTSW	6	118549637	critical splice donor site	probably null
ANU74:Ankrd26	UTSW	6	118552775	missense	probably benign	0.02
N/A:Ankrd26	UTSW	6	118529574	missense	probably benign	0.04
R0078:Ankrd26	UTSW	6	118535069	splice site	probably benign
R0083:Ankrd26	UTSW	6	118523254	missense	probably benign	0.36
R0165:Ankrd26	UTSW	6	118540484	missense	probably benign	0.01
R0344:Ankrd26	UTSW	6	118507637	critical splice donor site	probably null
R0828:Ankrd26	UTSW	6	118533473	splice site	probably benign
R1532:Ankrd26	UTSW	6	118522958	missense	probably damaging	1.00
R1809:Ankrd26	UTSW	6	118525922	splice site	probably benign
R1875:Ankrd26	UTSW	6	118540449	critical splice donor site	probably null
R1940:Ankrd26	UTSW	6	118511693	missense	probably damaging	1.00
R2164:Ankrd26	UTSW	6	118525791	missense	probably damaging	1.00
R2202:Ankrd26	UTSW	6	118523882	missense	possibly damaging	0.79
R2204:Ankrd26	UTSW	6	118523882	missense	possibly damaging	0.79
R2205:Ankrd26	UTSW	6	118523882	missense	possibly damaging	0.79
R3107:Ankrd26	UTSW	6	118556243	missense	probably benign	0.01
R3419:Ankrd26	UTSW	6	118535107	missense	probably damaging	1.00
R3552:Ankrd26	UTSW	6	118507776	missense	probably damaging	1.00
R3899:Ankrd26	UTSW	6	118549428	missense	probably benign	0.30
R4157:Ankrd26	UTSW	6	118507821	missense	probably damaging	1.00
R4194:Ankrd26	UTSW	6	118523678	missense	probably benign	0.21
R4230:Ankrd26	UTSW	6	118559388	splice site	probably null
R4651:Ankrd26	UTSW	6	118515826	missense	probably benign	0.03
R4701:Ankrd26	UTSW	6	118506485	missense	possibly damaging	0.65
R4747:Ankrd26	UTSW	6	118527757	missense	probably benign	0.01
R4752:Ankrd26	UTSW	6	118540465	missense	probably null	1.00
R4834:Ankrd26	UTSW	6	118523718	missense	probably benign	0.08
R4835:Ankrd26	UTSW	6	118548850	nonsense	probably null
R4849:Ankrd26	UTSW	6	118532296	missense	probably benign	0.00
R5149:Ankrd26	UTSW	6	118558996	missense	probably benign	0.05
R5389:Ankrd26	UTSW	6	118508575	missense	possibly damaging	0.82
R5473:Ankrd26	UTSW	6	118515836	missense	probably benign	0.04
R5518:Ankrd26	UTSW	6	118548908	missense	probably benign	0.00
R5525:Ankrd26	UTSW	6	118527731	missense	probably benign	0.00
R5608:Ankrd26	UTSW	6	118511622	missense	probably damaging	1.00
R5639:Ankrd26	UTSW	6	118539724	missense	possibly damaging	0.72
R5704:Ankrd26	UTSW	6	118523882	missense	probably damaging	0.96
R5927:Ankrd26	UTSW	6	118507636	critical splice donor site	probably null
R5943:Ankrd26	UTSW	6	118505746	missense	probably damaging	1.00
R5976:Ankrd26	UTSW	6	118517894	critical splice donor site	probably null
R6181:Ankrd26	UTSW	6	118548877	missense	probably benign	0.15
R6478:Ankrd26	UTSW	6	118511638	missense	probably benign	0.28
R6667:Ankrd26	UTSW	6	118507788	missense	probably benign	0.02
R6865:Ankrd26	UTSW	6	118523481	missense	possibly damaging	0.90
R7224:Ankrd26	UTSW	6	118539727	missense	probably benign	0.07
R7287:Ankrd26	UTSW	6	118549637	critical splice donor site	probably null
R7301:Ankrd26	UTSW	6	118511663	missense	possibly damaging	0.62
R7348:Ankrd26	UTSW	6	118508564	missense	probably damaging	1.00
R7414:Ankrd26	UTSW	6	118508780	missense	possibly damaging	0.60
R7789:Ankrd26	UTSW	6	118527799	missense	possibly damaging	0.82
R7964:Ankrd26	UTSW	6	118523199	missense	probably benign	0.03
R8078:Ankrd26	UTSW	6	118517893	splice site	probably null
R8224:Ankrd26	UTSW	6	118525755	missense	probably damaging	1.00
R8917:Ankrd26	UTSW	6	118558941	missense	probably damaging	1.00
R8962:Ankrd26	UTSW	6	118535143	missense	probably benign	0.02
R9072:Ankrd26	UTSW	6	118523389	missense	probably damaging	1.00
R9073:Ankrd26	UTSW	6	118523389	missense	probably damaging	1.00
R9087:Ankrd26	UTSW	6	118559269	critical splice donor site	probably null
R9334:Ankrd26	UTSW	6	118532301	missense	probably benign
R9417:Ankrd26	UTSW	6	118527764	missense	possibly damaging	0.46
R9521:Ankrd26	UTSW	6	118540459	missense	possibly damaging	0.94
X0028:Ankrd26	UTSW	6	118507761	missense	probably damaging	1.00
Z1177:Ankrd26	UTSW	6	118523532	missense	possibly damaging	0.77
Z1177:Ankrd26	UTSW	6	118523595	missense	probably damaging	0.99

Predicted Primers

PCR Primer
(F):5'- GAGTGAGTGAGTGTAACAGAACATT -3'
(R):5'- TTATTTGCAGAGCCTAGTGTAATG -3'

Sequencing Primer
(F):5'- AGTGAGTGTAACAGAACATTAAACAG -3'
(R):5'- CAGAGCCTAGTGTAATGTGTTCCTC -3'

Posted On

2019-11-26