Mutagenetix > Incidental Mutation

Incidental Mutation 'R7742:Ankrd33b'

596623

Institutional Source

Beutler Lab

Gene Symbol

Ankrd33b

Ensembl Gene

ENSMUSG00000022237

Gene Name

ankyrin repeat domain 33B

Synonyms

3021401C12Rik, 5730557B15Rik, 0610012A05Rik

MMRRC Submission

045798-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.092) question?

Stock #

R7742 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

31291624-31367872 bp(-) (GRCm39)

Type of Mutation

start codon destroyed

DNA Base Change (assembly)

T to C at 31367538 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Methionine to Valine at position 1 (M1V)

Ref Sequence

ENSEMBL: ENSMUSP00000118984 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000044324] [ENSMUST00000076942] [ENSMUST00000110410] [ENSMUST00000123325] [ENSMUST00000156679]

AlphaFold

Q3U0L2

Predicted Effect

probably null
Transcript: ENSMUST00000044324
AA Change: M1V

PolyPhen 2 Score 0.851 (Sensitivity: 0.83; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000037918
Gene: ENSMUSG00000022237
AA Change: M1V

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

Predicted Effect

probably null
Transcript: ENSMUST00000076942
AA Change: M1V

PolyPhen 2 Score 0.851 (Sensitivity: 0.83; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000076209
Gene: ENSMUSG00000022237
AA Change: M1V

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

Predicted Effect

probably null
Transcript: ENSMUST00000110410
AA Change: M1V

PolyPhen 2 Score 0.023 (Sensitivity: 0.95; Specificity: 0.81)

SMART Domains

Protein: ENSMUSP00000106040
Gene: ENSMUSG00000022237
AA Change: M1V

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 null
Transcript: ENSMUST00000123325
AA Change: M1V

PolyPhen 2 Score 0.767 (Sensitivity: 0.85; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000118984
Gene: ENSMUSG00000022237
AA Change: M1V

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 null
Transcript: ENSMUST00000156679
AA Change: M1V

PolyPhen 2 Score 0.522 (Sensitivity: 0.88; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000117974
Gene: ENSMUSG00000022237
AA Change: M1V

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

Meta Mutation Damage Score

0.9666

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.7%
20x: 99.2%

Validation Efficiency

100% (53/53)

Allele List at MGI

Other mutations in this stock

Total: 53 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
3425401B19Rik	T	C	14: 32,384,714 (GRCm39)	K417R	possibly damaging	Het
Adgrl2	A	T	3: 148,542,064 (GRCm39)	I886N	probably damaging	Het
Angptl2	A	G	2: 33,133,928 (GRCm39)	T417A	probably damaging	Het
Col3a1	A	G	1: 45,384,161 (GRCm39)	H1155R	unknown	Het
Csad	A	G	15: 102,095,599 (GRCm39)	S153P	probably damaging	Het
Dennd1b	G	A	1: 138,990,611 (GRCm39)	E192K	probably damaging	Het
Dmtf1	C	T	5: 9,172,457 (GRCm39)		probably benign	Het
Dna2	T	C	10: 62,809,073 (GRCm39)	I1055T	probably benign	Het
Dnai4	C	T	4: 102,947,630 (GRCm39)	M215I	probably benign	Het
Dync2h1	T	C	9: 7,076,232 (GRCm39)	D2975G	probably benign	Het
Eif1ad7	A	T	12: 88,238,476 (GRCm39)	Y95N	probably damaging	Het
F5	G	T	1: 164,035,453 (GRCm39)	V1876F	possibly damaging	Het
Fam81b	T	A	13: 76,399,809 (GRCm39)	I150F	probably damaging	Het
Fbl	T	A	7: 27,877,684 (GRCm39)	V252E	probably damaging	Het
Fbln1	A	G	15: 85,124,917 (GRCm39)	D475G	probably damaging	Het
Fshr	T	A	17: 89,293,590 (GRCm39)	I363F	probably benign	Het
Gapvd1	A	G	2: 34,568,635 (GRCm39)	L1328P	probably damaging	Het
Hcfc2	T	A	10: 82,547,659 (GRCm39)		probably null	Het
Ifi209	C	A	1: 173,470,198 (GRCm39)	T262K	probably damaging	Het
Kif2b	T	A	11: 91,467,411 (GRCm39)	I291F	possibly damaging	Het
Lrp1b	T	A	2: 40,712,641 (GRCm39)	D3231V		Het
Mcidas	G	A	13: 113,135,521 (GRCm39)	G315S	probably damaging	Het
Naip5	T	A	13: 100,356,338 (GRCm39)	E1092D	probably benign	Het
Nudcd1	T	C	15: 44,268,754 (GRCm39)	K209E	probably benign	Het
Nup98	C	T	7: 101,802,464 (GRCm39)		probably null	Het
Odad3	T	C	9: 21,904,193 (GRCm39)	D361G	possibly damaging	Het
Or2ag2	T	C	7: 106,485,829 (GRCm39)	Q65R	probably damaging	Het
Or2j6	T	A	7: 139,980,234 (GRCm39)	I242F	probably benign	Het
Pign	T	C	1: 105,480,122 (GRCm39)	I851V	probably benign	Het
Pkd1l3	T	A	8: 110,341,204 (GRCm39)	L19Q	unknown	Het
Plat	G	T	8: 23,262,248 (GRCm39)	G91W	probably damaging	Het
Plekhm2	A	G	4: 141,355,150 (GRCm39)	L959P	probably benign	Het
Prkcg	T	C	7: 3,378,459 (GRCm39)	I627T	possibly damaging	Het
Prl7b1	A	T	13: 27,791,031 (GRCm39)	M18K	probably benign	Het
Ptpn3	T	A	4: 57,265,092 (GRCm39)		probably null	Het
Rp1	A	T	1: 4,240,457 (GRCm39)	F899I	unknown	Het
Sis	T	A	3: 72,832,431 (GRCm39)	Y1026F	probably benign	Het
Slc4a10	T	G	2: 62,127,194 (GRCm39)	V879G	probably damaging	Het
Specc1l	T	C	10: 75,082,251 (GRCm39)	I549T	probably benign	Het
Spmip11	T	A	15: 98,483,250 (GRCm39)	V60E	probably damaging	Het
Sprr2a3	G	A	3: 92,196,066 (GRCm39)	V58M	unknown	Het
Sptbn2	C	G	19: 4,799,040 (GRCm39)	R2037G	probably benign	Het
Syne2	C	T	12: 76,106,209 (GRCm39)	H785Y	probably benign	Het
Tat	T	A	8: 110,718,242 (GRCm39)	N42K	probably benign	Het
Tmem184a	C	T	5: 139,792,744 (GRCm39)	A271T	probably benign	Het
Tmprss11d	T	C	5: 86,451,493 (GRCm39)	I411V	probably damaging	Het
Ttn	T	C	2: 76,733,872 (GRCm39)	I4468V	unknown	Het
Vcam1	T	C	3: 115,909,734 (GRCm39)	N531S	possibly damaging	Het
Vmn1r257	C	T	7: 22,391,343 (GRCm39)	V134I	probably benign	Het
Xcl1	T	C	1: 164,763,041 (GRCm39)	T7A	unknown	Het
Zc3h11a	A	G	1: 133,565,173 (GRCm39)	V242A	probably benign	Het
Zc3h7a	A	T	16: 10,971,025 (GRCm39)	Y335N	probably benign	Het
Zp2	T	C	7: 119,731,731 (GRCm39)	I675V	unknown	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
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
R9344:Ankrd33b	UTSW	15	31,297,903 (GRCm39)	missense	probably damaging	0.98
Z1177:Ankrd33b	UTSW	15	31,305,279 (GRCm39)	critical splice acceptor site	probably null

Predicted Primers

PCR Primer
(F):5'- AATCGTCCGATGCGATGCTG -3'
(R):5'- GTTACAGCTTCAGGATCTCCCG -3'

Sequencing Primer
(F):5'- CGATGCTGCGGGTGTCC -3'
(R):5'- AGTCGCCAGTGACTTTGCAC -3'

Posted On

2019-11-26