Mutagenetix > Incidental Mutation

Incidental Mutation 'R9344:Ankrd33b'

707707

Institutional Source

Beutler Lab

Gene Symbol

Ankrd33b

Ensembl Gene

ENSMUSG00000022237

Gene Name

ankyrin repeat domain 33B

Synonyms

3021401C12Rik, 5730557B15Rik, 0610012A05Rik

MMRRC Submission

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.084) question?

Stock #

R9344 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

31291624-31367872 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 31297903 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Proline at position 285 (S285P)

Ref Sequence

ENSEMBL: ENSMUSP00000118984 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000044324] [ENSMUST00000110410] [ENSMUST00000123325] [ENSMUST00000156679]

AlphaFold

Q3U0L2

Predicted Effect

probably benign
Transcript: ENSMUST00000044324

SMART Domains

Protein: ENSMUSP00000037918
Gene: ENSMUSG00000022237

Domain	Start	End	E-Value	Type
Blast:ANK	81	109	2e-10	BLAST

Predicted Effect

possibly damaging
Transcript: ENSMUST00000110410
AA Change: S276P

PolyPhen 2 Score 0.920 (Sensitivity: 0.81; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000106040
Gene: ENSMUSG00000022237
AA Change: S276P

Domain	Start	End	E-Value	Type
Blast:ANK	81	106	5e-6	BLAST
ANK	107	137	2.32e2	SMART
ANK	141	170	8.86e-2	SMART
ANK	176	205	1.59e-3	SMART
ANK	210	240	1.27e3	SMART
low complexity region	363	382	N/A	INTRINSIC
low complexity region	388	410	N/A	INTRINSIC
coiled coil region	440	470	N/A	INTRINSIC

Predicted Effect

probably damaging
Transcript: ENSMUST00000123325
AA Change: S285P

PolyPhen 2 Score 0.980 (Sensitivity: 0.75; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000118984
Gene: ENSMUSG00000022237
AA Change: S285P

Domain	Start	End	E-Value	Type
Blast:ANK	81	109	5e-9	BLAST
ANK	116	146	6.51e0	SMART
ANK	150	179	8.86e-2	SMART
ANK	185	214	1.59e-3	SMART
ANK	219	249	1.27e3	SMART
low complexity region	372	391	N/A	INTRINSIC
low complexity region	397	419	N/A	INTRINSIC
coiled coil region	449	479	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000156679

SMART Domains

Protein: ENSMUSP00000117974
Gene: ENSMUSG00000022237

Domain	Start	End	E-Value	Type
Blast:ANK	81	109	1e-9	BLAST
ANK	116	146	6.51e0	SMART

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.8%
20x: 99.2%

Validation Efficiency

100% (57/57)

Allele List at MGI

Other mutations in this stock

Total: 58 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930453N24Rik	A	G	16: 64,591,135 (GRCm39)	V31A	possibly damaging	Het
Adss2	A	G	1: 177,597,527 (GRCm39)	Y378H	probably damaging	Het
Aldh1a1	T	A	19: 20,608,150 (GRCm39)	V324D	probably damaging	Het
Arel1	C	T	12: 84,981,371 (GRCm39)	G269S	probably damaging	Het
Arhgap44	A	G	11: 65,053,463 (GRCm39)	M1T	probably null	Het
Arpin	C	T	7: 79,577,983 (GRCm39)	V149I	probably benign	Het
Arpp21	A	G	9: 112,014,720 (GRCm39)	L28P	possibly damaging	Het
Ccr8	G	A	9: 119,923,133 (GRCm39)	V83I	probably damaging	Het
Cnksr1	T	C	4: 133,963,508 (GRCm39)	E58G	probably damaging	Het
Dctn2	T	A	10: 127,114,084 (GRCm39)	H341Q	probably damaging	Het
Ddx21	C	A	10: 62,428,825 (GRCm39)	A362S	possibly damaging	Het
Dnajc1	C	T	2: 18,289,586 (GRCm39)	V274I	probably benign	Het
Dock3	A	C	9: 106,870,763 (GRCm39)	C550W	probably damaging	Het
Dst	T	C	1: 34,220,676 (GRCm39)	L2160S	probably damaging	Het
Duox1	T	A	2: 122,168,163 (GRCm39)	M1096K	probably benign	Het
Dync2h1	A	T	9: 7,148,659 (GRCm39)	D928E	probably benign	Het
E030025P04Rik	C	T	11: 109,030,454 (GRCm39)		probably null	Het
Eid2b	T	C	7: 27,977,591 (GRCm39)	M129T	possibly damaging	Het
Fnip2	G	A	3: 79,407,717 (GRCm39)	S288F	possibly damaging	Het
Grm4	G	T	17: 27,653,737 (GRCm39)	R738S	probably benign	Het
Gsto2	A	G	19: 47,864,884 (GRCm39)	D139G	probably benign	Het
Herc2	T	A	7: 55,772,112 (GRCm39)	V1097E	probably benign	Het
Impg1	G	A	9: 80,312,040 (GRCm39)	A181V	probably benign	Het
Irs2	G	T	8: 11,057,289 (GRCm39)	S381*	probably null	Het
Itprid1	C	T	6: 55,955,470 (GRCm39)	T1026I	probably benign	Het
Lrrd1	A	C	5: 3,908,819 (GRCm39)	D697A	possibly damaging	Het
Nat10	A	G	2: 103,573,460 (GRCm39)	S346P	probably damaging	Het
Ncapg2	G	A	12: 116,388,273 (GRCm39)	R319H	probably damaging	Het
Nid1	A	G	13: 13,652,894 (GRCm39)	Y568C	probably damaging	Het
Noc2l	G	A	4: 156,325,130 (GRCm39)	C325Y	probably damaging	Het
Or12e9	A	T	2: 87,202,161 (GRCm39)	D95V	possibly damaging	Het
Or1e17	C	A	11: 73,831,744 (GRCm39)	S224Y	possibly damaging	Het
Pde2a	G	T	7: 101,144,891 (GRCm39)	V169F	possibly damaging	Het
Pon3	T	C	6: 5,221,586 (GRCm39)	K348R	probably benign	Het
Ppp6c	A	G	2: 39,090,052 (GRCm39)		probably null	Het
Prrc2b	G	A	2: 32,103,600 (GRCm39)	G1026D	probably benign	Het
Psg22	A	T	7: 18,460,816 (GRCm39)	T482S	possibly damaging	Het
Rdh19	G	A	10: 127,692,740 (GRCm39)	V136M	probably damaging	Het
Sbf2	T	A	7: 109,940,535 (GRCm39)	N1275I	probably benign	Het
Sema4c	T	C	1: 36,592,395 (GRCm39)	N182D	probably damaging	Het
Slc7a12	T	A	3: 14,570,491 (GRCm39)	H414Q	probably damaging	Het
Slitrk5	A	G	14: 111,916,702 (GRCm39)	I109V	probably damaging	Het
Spag17	C	T	3: 100,010,793 (GRCm39)	P2096S	probably benign	Het
Steap1	T	A	5: 5,786,459 (GRCm39)	D326V	probably damaging	Het
Tacr1	C	T	6: 82,380,847 (GRCm39)	T86I	probably damaging	Het
Tenm4	C	T	7: 96,545,352 (GRCm39)	T2493I	probably damaging	Het
Tet2	A	G	3: 133,175,115 (GRCm39)	S1411P	possibly damaging	Het
Tom1	C	T	8: 75,785,076 (GRCm39)	R303C	probably damaging	Het
Trav7n-4	T	A	14: 53,329,200 (GRCm39)	I70N	possibly damaging	Het
Utrn	A	C	10: 12,560,275 (GRCm39)	V1338G	probably benign	Het
Vipr1	G	A	9: 121,471,993 (GRCm39)		probably null	Het
Vmn1r122	A	T	7: 20,867,271 (GRCm39)	H261Q	probably benign	Het
Vmn1r40	G	T	6: 89,691,235 (GRCm39)	L17F	probably benign	Het
Vmn2r54	A	G	7: 12,366,283 (GRCm39)	V217A	probably benign	Het
Vmn2r55	C	A	7: 12,385,782 (GRCm39)	G733*	probably null	Het
Vmn2r98	A	T	17: 19,286,777 (GRCm39)	N425I	probably benign	Het
Vps51	C	T	19: 6,126,345 (GRCm39)	V136I	unknown	Het
Zfp184	T	C	13: 22,144,411 (GRCm39)	C706R	probably damaging	Het

Other mutations in Ankrd33b

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02031:Ankrd33b	APN	15	31,325,329 (GRCm39)	missense	probably damaging	1.00
IGL02074:Ankrd33b	APN	15	31,297,807 (GRCm39)	missense	probably damaging	1.00
IGL02120:Ankrd33b	APN	15	31,367,202 (GRCm39)	missense	possibly damaging	0.91
Opposition	UTSW	15	31,325,231 (GRCm39)	critical splice donor site	probably null
R0046:Ankrd33b	UTSW	15	31,367,483 (GRCm39)	missense	probably damaging	1.00
R0082:Ankrd33b	UTSW	15	31,297,935 (GRCm39)	missense	probably benign	0.00
R0357:Ankrd33b	UTSW	15	31,305,272 (GRCm39)	missense	probably benign	0.02
R0518:Ankrd33b	UTSW	15	31,367,432 (GRCm39)	missense	probably damaging	0.99
R0521:Ankrd33b	UTSW	15	31,367,432 (GRCm39)	missense	probably damaging	0.99
R1512:Ankrd33b	UTSW	15	31,367,375 (GRCm39)	missense	probably damaging	1.00
R1708:Ankrd33b	UTSW	15	31,305,155 (GRCm39)	missense	probably damaging	1.00
R1818:Ankrd33b	UTSW	15	31,367,267 (GRCm39)	missense	probably damaging	0.96
R2005:Ankrd33b	UTSW	15	31,297,814 (GRCm39)	missense	probably damaging	1.00
R4648:Ankrd33b	UTSW	15	31,325,170 (GRCm39)	makesense	probably null
R5391:Ankrd33b	UTSW	15	31,325,352 (GRCm39)	missense	probably damaging	0.99
R6292:Ankrd33b	UTSW	15	31,325,231 (GRCm39)	critical splice donor site	probably null
R6639:Ankrd33b	UTSW	15	31,297,818 (GRCm39)	missense	probably damaging	1.00
R7105:Ankrd33b	UTSW	15	31,305,214 (GRCm39)	missense	probably damaging	1.00
R7742:Ankrd33b	UTSW	15	31,367,538 (GRCm39)	start codon destroyed	probably null	0.77
R8431:Ankrd33b	UTSW	15	31,305,248 (GRCm39)	missense	probably damaging	1.00
R8900:Ankrd33b	UTSW	15	31,297,830 (GRCm39)	missense	probably damaging	1.00
R8946:Ankrd33b	UTSW	15	31,297,894 (GRCm39)	missense	probably benign	0.03
R9203:Ankrd33b	UTSW	15	31,298,028 (GRCm39)	missense	probably benign	0.28
Z1177:Ankrd33b	UTSW	15	31,305,279 (GRCm39)	critical splice acceptor site	probably null

Predicted Primers

PCR Primer
(F):5'- AGAGCACTCTACCTTGTTGCTG -3'
(R):5'- ATGTTCAAGCAAGGGATCCC -3'

Sequencing Primer
(F):5'- GTTCAGGTTGCCCCTAGCTG -3'
(R):5'- ACAGGAGTGGGCTGCGTAC -3'

Posted On

2022-04-18