Mutagenetix > Incidental Mutation

Incidental Mutation 'R7074:Ankrd33'

549124

Institutional Source

Beutler Lab

Gene Symbol

Ankrd33

Ensembl Gene

ENSMUSG00000047034

Gene Name

ankyrin repeat domain 33

Synonyms

Panky, A930021G21Rik

MMRRC Submission

045242-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.109) question?

Stock #

R7074 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

101013636-101017921 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 101017430 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Lysine to Arginine at position 281 (K281R)

Ref Sequence

ENSEMBL: ENSMUSP00000067028 (fasta)

Gene Model

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

AlphaFold

Q8BXP5

Predicted Effect

probably benign
Transcript: ENSMUST00000070875
AA Change: K281R

PolyPhen 2 Score 0.013 (Sensitivity: 0.96; Specificity: 0.78)

SMART Domains

Protein: ENSMUSP00000067028
Gene: ENSMUSG00000047034
AA Change: K281R

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: K329R

Predicted Effect

probably benign
Transcript: ENSMUST00000231158

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 99.0%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 54 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aadacl4	A	T	4: 144,340,433 (GRCm39)	I53L	probably benign	Het
Acss2	T	C	2: 155,363,961 (GRCm39)	L80P	possibly damaging	Het
Adam3	A	T	8: 25,184,363 (GRCm39)	F546I	probably benign	Het
Adtrp	A	T	13: 41,981,617 (GRCm39)		probably null	Het
Anapc1	G	T	2: 128,520,194 (GRCm39)	P208T	probably damaging	Het
Bcl11b	A	G	12: 107,955,766 (GRCm39)	S128P	probably benign	Het
Ccdc57	T	C	11: 120,794,200 (GRCm39)	K265E	possibly damaging	Het
Cep72	A	G	13: 74,199,699 (GRCm39)	C244R	probably benign	Het
Cope	A	G	8: 70,765,537 (GRCm39)	Q303R	probably benign	Het
Cpd	T	A	11: 76,704,420 (GRCm39)	N398I	probably damaging	Het
Cplx1	C	T	5: 108,696,393 (GRCm39)		probably null	Het
Dixdc1	T	A	9: 50,601,214 (GRCm39)	E344D	possibly damaging	Het
Dock7	A	T	4: 98,833,445 (GRCm39)	F1951I	unknown	Het
Ell2	C	A	13: 75,910,006 (GRCm39)	L119M	probably damaging	Het
Faap24	A	T	7: 35,094,527 (GRCm39)	I91K	possibly damaging	Het
Fubp3	T	C	2: 31,485,306 (GRCm39)	S107P	probably damaging	Het
Gas2l2	T	A	11: 83,313,893 (GRCm39)	Q473L	probably benign	Het
Ghr	A	T	15: 3,362,873 (GRCm39)	Y200N	probably damaging	Het
Gm4950	G	A	18: 51,998,521 (GRCm39)	Q145*	probably null	Het
Gm826	C	T	2: 160,153,810 (GRCm39)	V78I	unknown	Het
Gnas	G	A	2: 174,126,842 (GRCm39)	E126K	probably damaging	Het
Grip2	A	T	6: 91,761,689 (GRCm39)	V235E	probably benign	Het
Hmgcl	A	G	4: 135,681,178 (GRCm39)	H88R	probably benign	Het
Htr7	A	G	19: 36,034,283 (GRCm39)	V124A	probably damaging	Het
Igf2r	T	A	17: 12,933,003 (GRCm39)	I840F	possibly damaging	Het
Ints8	T	C	4: 11,204,574 (GRCm39)	I961V	possibly damaging	Het
Jmy	A	T	13: 93,590,439 (GRCm39)	S555T	probably benign	Het
Klk1b27	G	A	7: 43,705,977 (GRCm39)	G227S	probably damaging	Het
Lao1	A	C	4: 118,825,382 (GRCm39)	T401P	probably damaging	Het
Lrwd1	C	T	5: 136,152,511 (GRCm39)	V547I	probably benign	Het
Mttp	C	A	3: 137,813,034 (GRCm39)	R532L	possibly damaging	Het
Muc16	T	C	9: 18,566,946 (GRCm39)	T1858A	unknown	Het
Myo18a	T	A	11: 77,733,387 (GRCm39)	D1409E	probably benign	Het
Ncor2	T	A	5: 125,126,430 (GRCm39)	R554*	probably null	Het
Or14j6	T	A	17: 38,214,718 (GRCm39)	Y94N	possibly damaging	Het
Or1e1b-ps1	A	T	11: 73,845,975 (GRCm39)	H153L	probably benign	Het
Or2b11	T	C	11: 59,461,835 (GRCm39)	T244A	probably damaging	Het
Or2l13b	T	A	16: 19,348,855 (GRCm39)	I272F	possibly damaging	Het
Or52b1	A	G	7: 104,978,475 (GRCm39)	M308T	probably benign	Het
Prkar2b	A	G	12: 32,022,147 (GRCm39)	Y213H	probably damaging	Het
Prkd3	T	A	17: 79,282,236 (GRCm39)	K306*	probably null	Het
Psd2	A	G	18: 36,143,737 (GRCm39)	E681G	probably benign	Het
Sel1l2	T	A	2: 140,105,362 (GRCm39)	N276I	probably damaging	Het
Smox	C	T	2: 131,364,031 (GRCm39)	A45V	possibly damaging	Het
Smyd1	A	G	6: 71,214,359 (GRCm39)	V214A	probably damaging	Het
Spag5	T	C	11: 78,195,868 (GRCm39)		probably null	Het
Trem3	C	T	17: 48,556,909 (GRCm39)	R127W	probably damaging	Het
Ttn	G	A	2: 76,748,425 (GRCm39)	T4208I	probably benign	Het
Tubgcp6	A	G	15: 89,004,839 (GRCm39)	F260S	probably damaging	Het
Vmn1r51	A	T	6: 90,106,654 (GRCm39)	D190V	probably benign	Het
Zc3h14	A	G	12: 98,724,859 (GRCm39)	I174V	possibly damaging	Het
Zfp423	G	A	8: 88,509,060 (GRCm39)	T428I	probably benign	Het
Zfp608	T	A	18: 55,030,454 (GRCm39)	N1162I	possibly damaging	Het
Zmym5	T	C	14: 57,042,255 (GRCm39)	M8V	probably benign	Het

Other mutations in Ankrd33

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00549:Ankrd33	APN	15	101,014,840 (GRCm39)	missense	probably damaging	1.00
IGL02458:Ankrd33	APN	15	101,014,488 (GRCm39)	missense	probably damaging	1.00
R1830:Ankrd33	UTSW	15	101,017,432 (GRCm39)	missense	probably damaging	1.00
R2072:Ankrd33	UTSW	15	101,017,517 (GRCm39)	missense	probably benign	0.10
R6028:Ankrd33	UTSW	15	101,016,953 (GRCm39)	missense	probably damaging	1.00
R6904:Ankrd33	UTSW	15	101,014,993 (GRCm39)	splice site	probably null
R7022:Ankrd33	UTSW	15	101,014,780 (GRCm39)	missense	probably benign	0.14
R8417:Ankrd33	UTSW	15	101,017,330 (GRCm39)	missense	probably benign	0.00
R8696:Ankrd33	UTSW	15	101,014,864 (GRCm39)	missense	probably benign	0.00
R9061:Ankrd33	UTSW	15	101,014,029 (GRCm39)	start gained	probably benign
R9595:Ankrd33	UTSW	15	101,013,785 (GRCm39)	critical splice donor site	probably null

Predicted Primers

PCR Primer
(F):5'- GCACTAGAGGCAAATCAGTGC -3'
(R):5'- AACCGTGTATACTTGGTGGGAG -3'

Sequencing Primer
(F):5'- CAGTGCCAGAACTTTTAGGTACTGC -3'
(R):5'- TTCCCGCTGGCAGAGATAG -3'

Posted On

2019-05-15