Mutagenetix > Incidental Mutation

Incidental Mutation 'R5401:Ankrd13a'

429981

Institutional Source

Beutler Lab

Gene Symbol

Ankrd13a

Ensembl Gene

ENSMUSG00000041870

Gene Name

ankyrin repeat domain 13a

Synonyms

1100001D10Rik

MMRRC Submission

042972-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.106) question?

Stock #

R5401 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

114913009-114943882 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to C at 114930234 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamine to Histidine at position 206 (Q206H)

Ref Sequence

ENSEMBL: ENSMUSP00000099638 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000102578]

AlphaFold

Q80UP5

Predicted Effect

probably damaging
Transcript: ENSMUST00000102578
AA Change: Q206H

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000099638
Gene: ENSMUSG00000041870
AA Change: Q206H

Domain	Start	End	E-Value	Type
ANK	40	69	1.51e-4	SMART
ANK	73	104	2.03e-1	SMART
Pfam:GPCR_chapero_1	156	468	5.5e-107	PFAM
UIM	480	500	2.98e2	SMART
UIM	517	536	2.01e1	SMART
UIM	547	566	5.33e1	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000129001

Predicted Effect

unknown
Transcript: ENSMUST00000137519
AA Change: Q139H

SMART Domains

Protein: ENSMUSP00000116994
Gene: ENSMUSG00000041870
AA Change: Q139H

Domain	Start	End	E-Value	Type
ANK	7	38	2.03e-1	SMART
Pfam:GPCR_chapero_1	90	403	8.2e-108	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000140604

Meta Mutation Damage Score

0.0981

Coding Region Coverage

1x: 99.4%
3x: 98.7%
10x: 97.3%
20x: 95.4%

Validation Efficiency

97% (66/68)

Allele List at MGI

Other mutations in this stock

Total: 53 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700001J11Rik	A	G	9: 39,962,338 (GRCm39)		noncoding transcript	Het
1700025H01Rik	G	T	16: 30,018,801 (GRCm39)		noncoding transcript	Het
9330159F19Rik	T	C	10: 29,101,136 (GRCm39)	V503A	probably benign	Het
Acacb	A	G	5: 114,347,914 (GRCm39)	N995S	possibly damaging	Het
Anapc4	A	G	5: 53,020,991 (GRCm39)	K630R	probably benign	Het
Ano10	A	T	9: 122,090,356 (GRCm39)	L319Q	probably damaging	Het
Camkk2	T	A	5: 122,884,398 (GRCm39)	D341V	probably damaging	Het
Ccdc88a	A	G	11: 29,413,279 (GRCm39)	I606V	probably benign	Het
Cdv3	G	T	9: 103,242,316 (GRCm39)		probably benign	Het
Cep97	A	G	16: 55,745,315 (GRCm39)	V155A	probably benign	Het
Cmya5	T	C	13: 93,228,476 (GRCm39)	E2204G	probably damaging	Het
Cracr2b	A	G	7: 141,046,136 (GRCm39)	*395W	probably null	Het
Defa27	A	G	8: 21,805,710 (GRCm39)	E50G	possibly damaging	Het
Dnah7a	A	G	1: 53,670,812 (GRCm39)	I480T	probably benign	Het
Ep400	C	A	5: 110,831,037 (GRCm39)	D2210Y	unknown	Het
Fam170a	T	A	18: 50,413,618 (GRCm39)	S28T	probably benign	Het
Fancc	C	A	13: 63,550,767 (GRCm39)	K18N	probably damaging	Het
Flt4	AC	ACC	11: 49,541,861 (GRCm39)		probably null	Het
Fndc8	T	G	11: 82,788,676 (GRCm39)	S169A	possibly damaging	Het
Get3	A	T	8: 85,745,173 (GRCm39)	I298N	possibly damaging	Het
Herc1	T	C	9: 66,409,338 (GRCm39)	Y4688H	probably damaging	Het
Ighv11-2	A	T	12: 114,011,959 (GRCm39)	D85E	possibly damaging	Het
Kat14	T	C	2: 144,231,180 (GRCm39)	F196L	possibly damaging	Het
Kctd19	C	T	8: 106,109,617 (GRCm39)	V942I	probably benign	Het
Llgl1	A	G	11: 60,597,297 (GRCm39)	S249G	probably benign	Het
Map1a	T	C	2: 121,130,153 (GRCm39)	V323A	probably damaging	Het
Or4m1	C	A	14: 50,557,566 (GRCm39)	C242F	probably damaging	Het
Phf21a	C	A	2: 92,182,097 (GRCm39)	T342K	possibly damaging	Het
Piezo2	T	A	18: 63,217,811 (GRCm39)	D1122V	possibly damaging	Het
Pklr	A	G	3: 89,049,173 (GRCm39)	Y173C	probably damaging	Het
Plcz1	G	T	6: 139,938,778 (GRCm39)		probably null	Het
Polr3a	T	C	14: 24,505,009 (GRCm39)	I1084V	possibly damaging	Het
Prom1	A	T	5: 44,158,147 (GRCm39)	Y845N	probably damaging	Het
Qng1	C	A	13: 58,530,405 (GRCm39)	A202S	probably benign	Het
Ret	A	T	6: 118,158,936 (GRCm39)	S159T	probably benign	Het
Rfx1	C	A	8: 84,793,005 (GRCm39)		probably null	Het
Scp2	A	T	4: 108,001,976 (GRCm39)		probably null	Het
Sh3bp5	C	A	14: 31,099,452 (GRCm39)	R265L	probably benign	Het
Slc22a30	G	A	19: 8,321,757 (GRCm39)	Q436*	probably null	Het
Smad5	T	C	13: 56,875,282 (GRCm39)	F157L	probably benign	Het
Smarcc2	C	A	10: 128,301,373 (GRCm39)	D210E	probably damaging	Het
Sptlc3	T	C	2: 139,478,643 (GRCm39)	L534P	possibly damaging	Het
Srrm1	A	G	4: 135,051,380 (GRCm39)		probably benign	Het
Srsf11	C	T	3: 157,728,981 (GRCm39)		probably benign	Het
Sugct	T	A	13: 17,032,455 (GRCm39)	Q432H	probably damaging	Het
Tex9	A	T	9: 72,394,060 (GRCm39)		probably null	Het
Tsc1	C	A	2: 28,576,920 (GRCm39)	S1073*	probably null	Het
Vmn1r72	T	C	7: 11,403,843 (GRCm39)	S202G	probably damaging	Het
Vmn2r55	A	G	7: 12,385,871 (GRCm39)	V703A	probably benign	Het
Vmn2r67	A	T	7: 84,785,765 (GRCm39)	Y747N	probably damaging	Het
Zcchc4	A	G	5: 52,964,419 (GRCm39)	I292V	probably benign	Het
Zfp998	T	C	13: 66,579,722 (GRCm39)	R254G	probably benign	Het
Zswim2	C	T	2: 83,755,589 (GRCm39)	G104E	possibly damaging	Het

Other mutations in Ankrd13a

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00963:Ankrd13a	APN	5	114,939,863 (GRCm39)	missense	probably damaging	0.99
IGL01303:Ankrd13a	APN	5	114,924,063 (GRCm39)	missense	possibly damaging	0.94
IGL01392:Ankrd13a	APN	5	114,935,914 (GRCm39)	missense	probably benign
IGL01480:Ankrd13a	APN	5	114,938,879 (GRCm39)	splice site	probably benign
IGL01652:Ankrd13a	APN	5	114,929,397 (GRCm39)	missense	probably damaging	1.00
IGL02213:Ankrd13a	APN	5	114,924,029 (GRCm39)	missense	probably damaging	1.00
IGL02512:Ankrd13a	APN	5	114,924,827 (GRCm39)	missense	probably benign	0.16
IGL03268:Ankrd13a	APN	5	114,930,296 (GRCm39)	missense	probably damaging	1.00
R0019:Ankrd13a	UTSW	5	114,924,142 (GRCm39)	splice site	probably benign
R0019:Ankrd13a	UTSW	5	114,924,142 (GRCm39)	splice site	probably benign
R0465:Ankrd13a	UTSW	5	114,942,295 (GRCm39)	missense	probably damaging	0.98
R0960:Ankrd13a	UTSW	5	114,924,868 (GRCm39)	missense	probably benign	0.03
R1222:Ankrd13a	UTSW	5	114,938,824 (GRCm39)	nonsense	probably null
R1538:Ankrd13a	UTSW	5	114,942,295 (GRCm39)	missense	possibly damaging	0.87
R1667:Ankrd13a	UTSW	5	114,924,794 (GRCm39)	missense	possibly damaging	0.89
R1771:Ankrd13a	UTSW	5	114,941,649 (GRCm39)	missense	probably benign	0.08
R2015:Ankrd13a	UTSW	5	114,930,170 (GRCm39)	missense	probably damaging	1.00
R4547:Ankrd13a	UTSW	5	114,913,357 (GRCm39)	missense	probably benign	0.01
R4569:Ankrd13a	UTSW	5	114,927,373 (GRCm39)	missense	probably damaging	1.00
R5635:Ankrd13a	UTSW	5	114,939,778 (GRCm39)	missense	possibly damaging	0.95
R6238:Ankrd13a	UTSW	5	114,924,787 (GRCm39)	missense	probably benign	0.00
R6562:Ankrd13a	UTSW	5	114,942,453 (GRCm39)	unclassified	probably benign
R6623:Ankrd13a	UTSW	5	114,924,818 (GRCm39)	missense	probably benign	0.28
R6772:Ankrd13a	UTSW	5	114,939,804 (GRCm39)	missense	probably benign	0.00
R7146:Ankrd13a	UTSW	5	114,913,293 (GRCm39)	missense	probably damaging	1.00
R7440:Ankrd13a	UTSW	5	114,941,636 (GRCm39)	missense	possibly damaging	0.65
R7567:Ankrd13a	UTSW	5	114,927,545 (GRCm39)	splice site	probably null
R7849:Ankrd13a	UTSW	5	114,929,343 (GRCm39)	missense	possibly damaging	0.89
R8006:Ankrd13a	UTSW	5	114,942,484 (GRCm39)	makesense	probably null
R8906:Ankrd13a	UTSW	5	114,939,798 (GRCm39)	missense	probably benign	0.00
R8977:Ankrd13a	UTSW	5	114,933,806 (GRCm39)	nonsense	probably null
R9231:Ankrd13a	UTSW	5	114,942,295 (GRCm39)	missense	probably damaging	0.98
R9667:Ankrd13a	UTSW	5	114,933,793 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- AGTCGAAGAGTGCTGACCAG -3'
(R):5'- CCTGTCGTTTATGAAAGCAGTC -3'

Sequencing Primer
(F):5'- TCTGTGCAAGCAGAGTCAGTC -3'
(R):5'- GTCGTTTATGAAAGCAGTCCCCAG -3'

Posted On

2016-09-06