Mutagenetix > Incidental Mutations

Incidental Mutation 'R8417:Ankrd33'

653013

Institutional Source

Beutler Lab

Gene Symbol

Ankrd33

Ensembl Gene

ENSMUSG00000047034

Gene Name

ankyrin repeat domain 33

Synonyms

Panky, A930021G21Rik

MMRRC Submission

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.083) question?

Stock #

R8417 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

101115755-101120040 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

C to A at 101119449 bp

Zygosity

Heterozygous

Amino Acid Change

Glutamine to Lysine at position 248 (Q248K)

Ref Sequence

ENSEMBL: ENSMUSP00000067028 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000070875] [ENSMUST00000229263] [ENSMUST00000229842] [ENSMUST00000229930] [ENSMUST00000229954] [ENSMUST00000231158]

Predicted Effect

probably benign
Transcript: ENSMUST00000070875
AA Change: Q248K

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000067028
Gene: ENSMUSG00000047034
AA Change: Q248K

Domain	Start	End	E-Value	Type
ANK	5	35	1.19e3	SMART
ANK	39	68	9.13e-4	SMART
ANK	74	103	1.9e-1	SMART
ANK	108	137	4.88e2	SMART
low complexity region	149	171	N/A	INTRINSIC
Blast:ANK	184	207	5e-6	BLAST
low complexity region	237	254	N/A	INTRINSIC
low complexity region	315	324	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000229263

Predicted Effect

probably benign
Transcript: ENSMUST00000229842

Predicted Effect

probably benign
Transcript: ENSMUST00000229930

Predicted Effect

unknown
Transcript: ENSMUST00000229954
AA Change: Q296K

Predicted Effect

probably benign
Transcript: ENSMUST00000231158

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.8%
20x: 99.3%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 39 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
AB124611	T	C	9: 21,529,085		probably null	Het
Adamtsl1	G	A	4: 86,156,689	D98N	possibly damaging	Het
Adgrb3	T	C	1: 25,488,053	T601A	probably benign	Het
Bsn	G	A	9: 108,111,452	A2367V	probably benign	Het
Casp12	G	T	9: 5,352,263	C155F	probably benign	Het
Clpp	T	C	17: 56,990,661	V81A	probably benign	Het
Cyp3a59	A	T	5: 146,090,685	I89F	possibly damaging	Het
Fam227b	C	A	2: 126,121,062	W178L	probably damaging	Het
Fcna	C	A	2: 25,624,851	R332L	probably damaging	Het
Gdf3	T	G	6: 122,606,607	H267P	probably damaging	Het
Gm4450	G	A	3: 98,456,415	T38I	probably benign	Het
Gm5592	A	G	7: 41,288,551	D419G	probably benign	Het
Gm6882	A	G	7: 21,427,295	V216A	probably damaging	Het
Gsdma3	A	G	11: 98,629,777	N78S	probably benign	Het
Hydin	T	C	8: 110,569,392	I3579T	probably benign	Het
Ighmbp2	T	C	19: 3,261,590	I942V	probably damaging	Het
Lamc1	A	G	1: 153,230,769	Y1266H	probably damaging	Het
Lgi3	T	C	14: 70,534,806	Y264H	probably benign	Het
Lmod2	G	A	6: 24,603,385	E120K	possibly damaging	Het
Mbl2	G	T	19: 30,239,484	C232F	probably damaging	Het
Morc1	T	C	16: 48,460,740	V214A	probably damaging	Het
Nlrp4b	T	A	7: 10,725,953	C827*	probably null	Het
Olfr1086	A	G	2: 86,676,805	F176S	probably damaging	Het
Olfr358	T	A	2: 37,004,646	T323S	probably benign	Het
Pbrm1	T	A	14: 31,027,462	H72Q	possibly damaging	Het
Plekhm2	T	C	4: 141,627,825	I944V	probably benign	Het
Prdm8	A	T	5: 98,184,531	D97V	probably damaging	Het
Preb	G	A	5: 30,960,117		probably benign	Het
Prkcd	T	C	14: 30,609,251	K56E	probably benign	Het
Slit3	A	T	11: 35,610,611	I391F	probably damaging	Het
Spata19	A	G	9: 27,397,970	S91G	probably benign	Het
Stag3	A	G	5: 138,308,588	T1134A	probably benign	Het
Tgfbr2	A	T	9: 116,110,129	M235K	probably benign	Het
Tmtc2	A	T	10: 105,413,236	I212N	probably damaging	Het
Tnfrsf26	C	T	7: 143,614,902	R133K	probably benign	Het
Trim43c	C	A	9: 88,843,138	Q238K	probably benign	Het
Vcan	T	C	13: 89,688,743	D2894G	probably benign	Het
Wisp3	T	A	10: 39,151,211	R342*	probably null	Het
Zeb2	C	T	2: 45,022,996	S105N	probably damaging	Het

Other mutations in Ankrd33

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00549:Ankrd33	APN	15	101116959	missense	probably damaging	1.00
IGL02458:Ankrd33	APN	15	101116607	missense	probably damaging	1.00
R1830:Ankrd33	UTSW	15	101119551	missense	probably damaging	1.00
R2072:Ankrd33	UTSW	15	101119636	missense	probably benign	0.10
R6028:Ankrd33	UTSW	15	101119072	missense	probably damaging	1.00
R6904:Ankrd33	UTSW	15	101117112	splice site	probably null
R7022:Ankrd33	UTSW	15	101116899	missense	probably benign	0.14
R7074:Ankrd33	UTSW	15	101119549	missense	probably benign	0.01

Predicted Primers

PCR Primer
(F):5'- TACAGGCTACTCTGAGCCTCTC -3'
(R):5'- GGAATGTGTCTTACTTGCTGCC -3'

Sequencing Primer
(F):5'- CAGGAAGGGGGTGTCCTG -3'
(R):5'- AGGAGCCAGACTTTGCTGC -3'

Posted On

2020-10-20