Mutagenetix > Incidental Mutation

Incidental Mutation 'R9547:Abtb1'

720172

Institutional Source

Beutler Lab

Gene Symbol

Abtb1

Ensembl Gene

ENSMUSG00000030083

Gene Name

ankyrin repeat and BTB domain containing 1

Synonyms

EF1ABP, BPOZ

MMRRC Submission

Accession Numbers

Essential gene?

Possibly non essential (E-score: 0.376) question?

Stock #

R9547 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

88812896-88818966 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 88815917 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Methionine at position 185 (V185M)

Ref Sequence

ENSEMBL: ENSMUSP00000032169 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000032169] [ENSMUST00000038409] [ENSMUST00000061262] [ENSMUST00000145944] [ENSMUST00000203137] [ENSMUST00000203272] [ENSMUST00000203864] [ENSMUST00000204327] [ENSMUST00000204458] [ENSMUST00000204932] [ENSMUST00000205082]

AlphaFold

no structure available at present

Predicted Effect

probably damaging
Transcript: ENSMUST00000032169
AA Change: V185M

PolyPhen 2 Score 0.986 (Sensitivity: 0.74; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000032169
Gene: ENSMUSG00000030083
AA Change: V185M

Domain	Start	End	E-Value	Type
ANK	1	31	5.03e2	SMART
ANK	35	64	2.81e-4	SMART
BTB	115	212	7.8e-18	SMART
BTB	272	376	4.24e-19	SMART
low complexity region	412	433	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000038409

SMART Domains

Protein: ENSMUSP00000040417
Gene: ENSMUSG00000033152

Domain	Start	End	E-Value	Type
coiled coil region	88	125	N/A	INTRINSIC
low complexity region	132	152	N/A	INTRINSIC
Pfam:CD34_antigen	328	539	9e-77	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000061262

SMART Domains

Protein: ENSMUSP00000058985
Gene: ENSMUSG00000033152

Domain	Start	End	E-Value	Type
coiled coil region	88	125	N/A	INTRINSIC
low complexity region	132	152	N/A	INTRINSIC
Pfam:CD34_antigen	328	539	5.4e-70	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000145944

SMART Domains

Protein: ENSMUSP00000117954
Gene: ENSMUSG00000033152

Domain	Start	End	E-Value	Type
signal peptide	1	28	N/A	INTRINSIC
low complexity region	39	57	N/A	INTRINSIC
coiled coil region	152	189	N/A	INTRINSIC
low complexity region	196	216	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000203120

Predicted Effect

probably benign
Transcript: ENSMUST00000203137

Predicted Effect

probably benign
Transcript: ENSMUST00000203272

Predicted Effect

probably benign
Transcript: ENSMUST00000203864

Predicted Effect

unknown
Transcript: ENSMUST00000204327
AA Change: R21H

Predicted Effect

probably benign
Transcript: ENSMUST00000204458

Predicted Effect

probably benign
Transcript: ENSMUST00000204932

Predicted Effect

unknown
Transcript: ENSMUST00000205082
AA Change: R46H

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.4%
20x: 98.0%

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a protein with an ankyrin repeat region and two BTB/POZ domains, which are thought to be involved in protein-protein interactions. Expression of this gene is activated by the phosphatase and tensin homolog, a tumor suppressor. Alternate splicing results in three transcript variants. [provided by RefSeq, Mar 2010]

Allele List at MGI

Other mutations in this stock

Total: 59 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aadacl2fm3	G	T	3: 59,772,656 (GRCm39)	M53I	probably benign	Het
Acod1	A	T	14: 103,292,294 (GRCm39)	S273C	probably benign	Het
Aifm3	T	C	16: 17,317,604 (GRCm39)	V75A	probably benign	Het
Anks1	T	C	17: 28,270,748 (GRCm39)	L845P	probably damaging	Het
Apc	A	G	18: 34,445,311 (GRCm39)	K736E	possibly damaging	Het
Atad2	A	G	15: 57,989,973 (GRCm39)	S168P	probably damaging	Het
Cand2	G	A	6: 115,759,757 (GRCm39)	A143T	probably benign	Het
Cep290	A	T	10: 100,380,841 (GRCm39)	H116L	probably benign	Het
Chd9	G	A	8: 91,683,186 (GRCm39)	R542H	unknown	Het
Crnkl1	T	C	2: 145,772,550 (GRCm39)	M176V	possibly damaging	Het
Dnah14	A	C	1: 181,420,992 (GRCm39)		probably null	Het
Dync1h1	A	G	12: 110,624,805 (GRCm39)	E3744G	probably damaging	Het
Ednrb	T	C	14: 104,080,459 (GRCm39)	I152V	probably benign	Het
Epha8	G	T	4: 136,665,897 (GRCm39)	L420M	probably damaging	Het
Fat3	A	T	9: 15,911,142 (GRCm39)	I1620N	possibly damaging	Het
Fbxo4	G	A	15: 3,998,493 (GRCm39)	P322S	probably damaging	Het
Fbxw10	G	T	11: 62,767,647 (GRCm39)	V828F	possibly damaging	Het
Gm7579	CTGTGTG	CTGTG	7: 141,765,736 (GRCm39)		probably null	Het
Gmip	T	C	8: 70,273,381 (GRCm39)	S891P	possibly damaging	Het
Grb10	A	G	11: 11,893,919 (GRCm39)	I389T	probably benign	Het
Grip1	G	A	10: 119,874,569 (GRCm39)	E778K	possibly damaging	Het
Hhatl	A	G	9: 121,618,649 (GRCm39)	Y118H	probably damaging	Het
Ighv1-69	A	G	12: 115,586,885 (GRCm39)	F83L	possibly damaging	Het
Intu	G	A	3: 40,608,536 (GRCm39)	V183I	probably benign	Het
Ipo4	A	G	14: 55,870,789 (GRCm39)		probably null	Het
Kdm4c	A	C	4: 74,323,104 (GRCm39)	D1012A	possibly damaging	Het
Klrc2	C	G	6: 129,633,812 (GRCm39)	A188P	probably benign	Het
Lipc	T	C	9: 70,728,146 (GRCm39)	D104G	unknown	Het
Lrrc63	A	T	14: 75,344,828 (GRCm39)	L420M	probably damaging	Het
Ly75	C	A	2: 60,161,069 (GRCm39)		probably null	Het
Mrpl50	T	A	4: 49,514,338 (GRCm39)	H111L	probably damaging	Het
Mtmr9	A	G	14: 63,779,855 (GRCm39)	I78T	possibly damaging	Het
Npepl1	A	G	2: 173,962,030 (GRCm39)	D304G	probably null	Het
Nphs1	C	T	7: 30,180,875 (GRCm39)	S1093F	probably benign	Het
Or2n1d	G	T	17: 38,646,341 (GRCm39)	V98F	possibly damaging	Het
Or5k3	T	C	16: 58,970,107 (GRCm39)	I298T	possibly damaging	Het
Or8g24	G	A	9: 38,989,927 (GRCm39)	T38I	probably damaging	Het
Pcdh18	A	T	3: 49,709,506 (GRCm39)	I603K	possibly damaging	Het
Pdcd6ip	A	T	9: 113,484,174 (GRCm39)	Y818N	unknown	Het
Phf10	A	G	17: 15,166,459 (GRCm39)		probably null	Het
Phgdh	A	G	3: 98,241,950 (GRCm39)	S55P	probably damaging	Het
Poll	G	T	19: 45,546,359 (GRCm39)	P227H	probably benign	Het
Prdm2	A	T	4: 142,861,561 (GRCm39)	S576R	probably damaging	Het
Psg26	T	C	7: 18,214,087 (GRCm39)	I192V	probably benign	Het
Rpgrip1l	T	C	8: 91,977,873 (GRCm39)	D1038G	probably benign	Het
Snx18	A	G	13: 113,753,754 (GRCm39)	M393T	possibly damaging	Het
Srsf11	A	G	3: 157,717,735 (GRCm39)	C448R	unknown	Het
Sv2c	A	G	13: 96,185,008 (GRCm39)	I223T	probably benign	Het
Tbc1d1	T	C	5: 64,330,950 (GRCm39)	V43A	possibly damaging	Het
Tex21	T	C	12: 76,253,591 (GRCm39)	T441A	probably damaging	Het
Thnsl2	T	A	6: 71,116,810 (GRCm39)	D114V	probably damaging	Het
Trpm2	A	G	10: 77,748,467 (GRCm39)	V1401A	probably benign	Het
Ttll6	T	C	11: 96,049,588 (GRCm39)	S769P	probably benign	Het
Tut4	A	G	4: 108,370,429 (GRCm39)	D776G	probably benign	Het
Uba5	A	G	9: 103,931,567 (GRCm39)	S222P	probably damaging	Het
Ublcp1	T	C	11: 44,347,251 (GRCm39)	Y290C	probably damaging	Het
Vmn1r216	A	T	13: 23,283,455 (GRCm39)	D46V	probably damaging	Het
Wdr17	A	T	8: 55,112,735 (GRCm39)	F789I	probably damaging	Het
Zfp266	A	G	9: 20,411,746 (GRCm39)	S144P	probably benign	Het

Other mutations in Abtb1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01487:Abtb1	APN	6	88,816,431 (GRCm39)	missense	probably damaging	0.98
IGL02264:Abtb1	APN	6	88,813,517 (GRCm39)	missense	probably benign	0.00
IGL02376:Abtb1	APN	6	88,815,466 (GRCm39)	splice site	probably benign
IGL02702:Abtb1	APN	6	88,815,120 (GRCm39)	missense	probably benign
IGL03132:Abtb1	APN	6	88,815,941 (GRCm39)	missense	probably benign	0.01
IGL03266:Abtb1	APN	6	88,815,916 (GRCm39)	missense	probably damaging	0.97
PIT4243001:Abtb1	UTSW	6	88,815,708 (GRCm39)	missense	probably benign	0.16
PIT4418001:Abtb1	UTSW	6	88,816,630 (GRCm39)	missense	possibly damaging	0.78
R0331:Abtb1	UTSW	6	88,817,684 (GRCm39)	unclassified	probably benign
R0763:Abtb1	UTSW	6	88,815,261 (GRCm39)	missense	probably damaging	0.96
R1565:Abtb1	UTSW	6	88,813,536 (GRCm39)	missense	probably benign	0.03
R1796:Abtb1	UTSW	6	88,813,601 (GRCm39)	missense	possibly damaging	0.68
R1822:Abtb1	UTSW	6	88,813,536 (GRCm39)	missense	probably benign	0.03
R1824:Abtb1	UTSW	6	88,813,536 (GRCm39)	missense	probably benign	0.03
R2225:Abtb1	UTSW	6	88,813,349 (GRCm39)	missense	probably damaging	1.00
R2227:Abtb1	UTSW	6	88,813,349 (GRCm39)	missense	probably damaging	1.00
R2399:Abtb1	UTSW	6	88,815,720 (GRCm39)	missense	possibly damaging	0.89
R4394:Abtb1	UTSW	6	88,813,566 (GRCm39)	missense	probably damaging	0.96
R4625:Abtb1	UTSW	6	88,813,269 (GRCm39)	missense	probably benign	0.00
R5312:Abtb1	UTSW	6	88,815,240 (GRCm39)	missense	probably damaging	1.00
R5552:Abtb1	UTSW	6	88,813,530 (GRCm39)	missense	probably benign	0.04
R6035:Abtb1	UTSW	6	88,818,788 (GRCm39)	missense	probably damaging	1.00
R6035:Abtb1	UTSW	6	88,818,788 (GRCm39)	missense	probably damaging	1.00
R6092:Abtb1	UTSW	6	88,815,433 (GRCm39)	missense	probably benign
R6195:Abtb1	UTSW	6	88,817,718 (GRCm39)	missense	probably benign	0.04
R7257:Abtb1	UTSW	6	88,816,434 (GRCm39)	missense	probably benign	0.01

Predicted Primers

PCR Primer
(F):5'- TGGAGGAGGTTCAATAGTCAGC -3'
(R):5'- GTGCCCAGCATGACTTAACCTG -3'

Sequencing Primer
(F):5'- GGAGGTTCAATAGTCAGCACCTTC -3'
(R):5'- CCAGCATGACTTAACCTGTTTGGAG -3'

Posted On

2022-07-18