Mutagenetix > Incidental Mutation

Incidental Mutation 'R4701:Ankrd26'

356020

Institutional Source

Beutler Lab

Gene Symbol

Ankrd26

Ensembl Gene

ENSMUSG00000007827

Gene Name

ankyrin repeat domain 26

Synonyms

5730521P14Rik

MMRRC Submission

041949-MU

Accession Numbers

Genbank: NM_001081112;MGI: 1917887

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R4701 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

118501308-118562226 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 118506485 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Phenylalanine to Serine at position 1586 (F1586S)

Ref Sequence

ENSEMBL: ENSMUSP00000108449 (fasta)

Gene Model

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

AlphaFold

no structure available at present

Predicted Effect

possibly damaging
Transcript: ENSMUST00000112830
AA Change: F1586S

PolyPhen 2 Score 0.650 (Sensitivity: 0.87; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000108449
Gene: ENSMUSG00000007827
AA Change: F1586S

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

0.1795

Coding Region Coverage

1x: 99.2%
3x: 98.5%
10x: 97.0%
20x: 94.6%

Validation Efficiency

96% (108/112)

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: 97 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aarsd1	T	C	11: 101,411,160	I196V	probably benign	Het
Aass	T	A	6: 23,075,856	K761*	probably null	Het
Abca13	A	G	11: 9,292,306	T1390A	possibly damaging	Het
Abhd16a	T	C	17: 35,096,606		probably null	Het
Acad11	C	T	9: 104,095,565	Q486*	probably null	Het
Actl9	T	C	17: 33,433,935	L323P	probably benign	Het
Adam12	T	A	7: 133,916,462	I650F	possibly damaging	Het
Adgre4	A	T	17: 55,784,971	D77V	probably damaging	Het
Anpep	T	C	7: 79,839,465	T320A	probably benign	Het
Arl15	T	A	13: 113,967,725	C133S	probably benign	Het
Ascc3	A	G	10: 50,720,664	N1230S	possibly damaging	Het
Atf4	T	A	15: 80,257,417	I336K	probably damaging	Het
Atp7b	A	T	8: 22,000,121	S1044T	probably benign	Het
Atp8b4	A	G	2: 126,414,293	F249L	probably damaging	Het
AU021092	G	T	16: 5,212,193	N319K	probably benign	Het
Bbs4	A	G	9: 59,323,519	V440A	probably benign	Het
Bpifb4	G	T	2: 153,950,385	G450C	probably damaging	Het
Cadm1	G	A	9: 47,818,822		probably benign	Het
Ccser2	G	A	14: 36,938,697	L500F	probably damaging	Het
Cd22	T	A	7: 30,876,153	I155F	probably damaging	Het
Cdkl4	A	T	17: 80,543,652	V207E	probably damaging	Het
Cfap65	T	C	1: 74,918,908	D947G	probably damaging	Het
Cntn6	T	C	6: 104,804,360	V397A	probably benign	Het
Cpox	T	A	16: 58,677,969	Y388*	probably null	Het
Dab1	C	T	4: 104,731,751	A524V	probably benign	Het
Dda1	T	A	8: 71,473,810	Y58N	probably damaging	Het
Dennd4a	C	T	9: 64,897,357	T1326I	possibly damaging	Het
Eps8l2	A	T	7: 141,357,260	I338F	probably damaging	Het
Fbxo42	A	G	4: 141,199,809	T467A	probably benign	Het
Flt4	T	C	11: 49,626,808	F319S	possibly damaging	Het
Fmn1	A	T	2: 113,584,071	Y895F	possibly damaging	Het
Gm6887	C	A	7: 42,465,093		noncoding transcript	Het
Grid2	A	G	6: 64,665,915	D887G	probably benign	Het
Grm6	C	T	11: 50,863,010	P714S	probably damaging	Het
Gsto2	A	G	19: 47,884,656	I157V	probably benign	Het
Il15ra	A	G	2: 11,718,345		probably null	Het
Impg1	A	G	9: 80,314,400	F713L	probably benign	Het
Jag1	T	A	2: 137,094,456	T373S	probably benign	Het
Kcnh3	T	A	15: 99,241,945	L904Q	probably benign	Het
Kctd19	C	A	8: 105,390,429	G356V	possibly damaging	Het
Kdm5b	T	A	1: 134,606,012		probably benign	Het
Kif1a	T	C	1: 93,078,835	I37V	probably damaging	Het
Lama5	G	A	2: 180,191,696	R1508C	probably damaging	Het
Lamb1	T	A	12: 31,266,848	C65*	probably null	Het
Lingo1	A	G	9: 56,620,258	F349S	probably damaging	Het
Loxl4	G	A	19: 42,607,613	H147Y	probably benign	Het
Lrrn4cl	T	A	19: 8,852,055	N132K	probably damaging	Het
Med17	A	T	9: 15,270,360	H31Q	probably damaging	Het
Med23	A	T	10: 24,893,648	L476F	probably damaging	Het
Mgst1	A	T	6: 138,150,838	D66V	probably damaging	Het
Mroh2a	T	C	1: 88,234,612		probably null	Het
Mroh2a	A	C	1: 88,241,618	I672L	probably benign	Het
Muc4	A	T	16: 32,755,846		probably benign	Het
Myo18a	C	T	11: 77,817,665	T30M	probably damaging	Het
Ncapg2	G	T	12: 116,440,618	R903L	probably benign	Het
Nme1	A	G	11: 93,965,908	I9T	probably damaging	Het
Nmt2	T	A	2: 3,322,641	I357N	probably benign	Het
Nphp4	T	C	4: 152,496,659	F100S	probably damaging	Het
Oca2	C	A	7: 56,255,002	T72K	probably benign	Het
Olfr1411	C	A	1: 92,597,438	D306E	probably benign	Het
Olfr625-ps1	G	A	7: 103,683,062	V105M	probably damaging	Het
Olfr676	A	T	7: 105,035,591	D131V	probably damaging	Het
Olfr677	A	T	7: 105,056,879	D211V	probably damaging	Het
Olfr871	T	C	9: 20,212,625	I92T	probably damaging	Het
Plce1	A	T	19: 38,725,007	T1240S	probably benign	Het
Plch1	A	T	3: 63,699,496		probably null	Het
Plxna4	T	C	6: 32,516,688	D331G	probably damaging	Het
Ppp1r3a	T	C	6: 14,718,993	T641A	probably benign	Het
Rab32	A	G	10: 10,550,854	L116P	probably benign	Het
Recql4	C	T	15: 76,708,585	C302Y	probably damaging	Het
Rorc	G	C	3: 94,391,710	E391Q	probably null	Het
Saa4	A	T	7: 46,731,627	F24I	possibly damaging	Het
Sall1	T	A	8: 89,031,160	K772M	probably damaging	Het
Sdk1	T	G	5: 142,185,231	L1950V	probably damaging	Het
Sil1	T	C	18: 35,266,896	E352G	probably benign	Het
Slc26a3	C	T	12: 31,447,774	P59L	probably damaging	Het
Smco2	T	C	6: 146,861,942		probably benign	Het
Sppl3	A	G	5: 115,103,313		probably null	Het
St6gal2	T	A	17: 55,496,344	V360D	probably damaging	Het
Stard9	G	A	2: 120,705,713	R345Q	possibly damaging	Het
Susd4	T	A	1: 182,892,061	Y414N	probably damaging	Het
Tenm4	T	C	7: 96,895,349	Y2191H	probably damaging	Het
Tln2	A	G	9: 67,346,527	V754A	probably benign	Het
Tmem132c	T	A	5: 127,564,496		probably benign	Het
Tnn	A	T	1: 160,147,768	S30T	possibly damaging	Het
Trpd52l3	G	T	19: 30,004,495	V217F	probably damaging	Het
Trpm1	G	T	7: 64,243,500	L1033F	probably damaging	Het
Tulp2	A	G	7: 45,517,924	E182G	probably damaging	Het
Ubr4	A	G	4: 139,471,336	K4490R	possibly damaging	Het
Usp17la	A	T	7: 104,860,649	R154*	probably null	Het
Vmn2r17	T	G	5: 109,427,983	M240R	probably damaging	Het
Vmn2r22	T	A	6: 123,650,469	N56I	probably benign	Het
Wdr66	A	G	5: 123,322,613	K1213E	probably benign	Het
Zdhhc21	A	T	4: 82,820,334	I206N	possibly damaging	Het
Zfp148	T	A	16: 33,456,908	D122E	probably benign	Het
Zfp804a	A	T	2: 82,256,582	S252C	probably damaging	Het
Zgrf1	C	T	3: 127,598,704	T1291I	probably benign	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
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	118527798	missense	probably damaging	0.98
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
R9720:Ankrd26	UTSW	6	118521941	missense	probably damaging	1.00
R9766:Ankrd26	UTSW	6	118523106	missense	possibly damaging	0.86
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'- CTATGACAGCATGCATTGGC -3'
(R):5'- CCTCTTAGACAGCCATGACTCAG -3'

Sequencing Primer
(F):5'- AGCATGCATTGGCCAAGC -3'
(R):5'- TTAGACAGCCATGACTCAGGGTTC -3'

Posted On

2015-10-21