Mutagenetix > Incidental Mutation

Incidental Mutation 'R6092:Abtb1'

485981

Institutional Source

Beutler Lab

Gene Symbol

Abtb1

Ensembl Gene

ENSMUSG00000030083

Gene Name

ankyrin repeat and BTB domain containing 1

Synonyms

EF1ABP, BPOZ

MMRRC Submission

044249-MU

Accession Numbers

Essential gene?

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

Stock #

R6092 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

88812896-88818966 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to C at 88815433 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Cysteine to Glycine at position 264 (C264G)

Ref Sequence

ENSEMBL: ENSMUSP00000032169 (fasta)

Gene Model

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

AlphaFold

no structure available at present

Predicted Effect

probably benign
Transcript: ENSMUST00000032169
AA Change: C264G

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000032169
Gene: ENSMUSG00000030083
AA Change: C264G

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

noncoding transcript
Transcript: ENSMUST00000141401

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

noncoding transcript
Transcript: ENSMUST00000147542

Predicted Effect

probably benign
Transcript: ENSMUST00000203120

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000204560

Predicted Effect

probably benign
Transcript: ENSMUST00000203272

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000203514

Predicted Effect

probably benign
Transcript: ENSMUST00000204932

Predicted Effect

probably benign
Transcript: ENSMUST00000204327

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000203460

Predicted Effect

probably benign
Transcript: ENSMUST00000203864

Predicted Effect

probably benign
Transcript: ENSMUST00000204458

Predicted Effect

probably benign
Transcript: ENSMUST00000205082

Predicted Effect

probably benign
Transcript: ENSMUST00000203137

Coding Region Coverage

1x: 99.9%
3x: 99.6%
10x: 98.0%
20x: 94.1%

Validation Efficiency

98% (61/62)

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: 64 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1110002E22Rik	C	T	3: 137,774,701 (GRCm39)	P1297S	probably benign	Het
4930486L24Rik	C	T	13: 61,001,461 (GRCm39)	V89M	probably benign	Het
Abhd16a	T	C	17: 35,317,786 (GRCm39)		probably null	Het
Ank3	G	A	10: 69,838,395 (GRCm39)	R1566K	possibly damaging	Het
Arid1a	C	T	4: 133,421,163 (GRCm39)	G881R	unknown	Het
Asb8	A	G	15: 98,034,123 (GRCm39)	V144A	possibly damaging	Het
Atm	A	C	9: 53,435,714 (GRCm39)	C199G	probably damaging	Het
Atxn1	C	A	13: 45,720,288 (GRCm39)	V536L	probably benign	Het
Baz1a	C	T	12: 54,955,868 (GRCm39)	V1074M	possibly damaging	Het
BC034090	T	A	1: 155,100,659 (GRCm39)	D535V	probably damaging	Het
Casp8ap2	C	A	4: 32,639,380 (GRCm39)	H145N	probably damaging	Het
Ccdc24	T	A	4: 117,729,645 (GRCm39)	K25*	probably null	Het
Ccdc91	A	G	6: 147,437,114 (GRCm39)	N100S	possibly damaging	Het
Cdh20	A	T	1: 110,026,036 (GRCm39)	Y424F	probably benign	Het
Clasp1	T	C	1: 118,438,028 (GRCm39)	S612P	probably damaging	Het
Cxcl14	T	C	13: 56,443,646 (GRCm39)	M55V	possibly damaging	Het
Dnah11	T	C	12: 117,892,191 (GRCm39)	T3661A	probably benign	Het
Dnah14	T	A	1: 181,449,398 (GRCm39)	D574E	probably benign	Het
Dnah6	C	T	6: 73,091,680 (GRCm39)	V2204M	possibly damaging	Het
Ercc4	A	T	16: 12,943,125 (GRCm39)	H178L	probably benign	Het
Far2	T	C	6: 148,076,581 (GRCm39)	F475L	probably benign	Het
Ggt7	A	G	2: 155,359,959 (GRCm39)		probably null	Het
Gm4131	T	A	14: 62,718,364 (GRCm39)	T81S	possibly damaging	Het
Gprc6a	A	G	10: 51,491,173 (GRCm39)	S788P	probably damaging	Het
Hmgxb3	C	A	18: 61,270,672 (GRCm39)	G884V	possibly damaging	Het
Homer1	T	A	13: 93,502,945 (GRCm39)		probably benign	Het
Iars1	T	C	13: 49,861,897 (GRCm39)	S483P	probably damaging	Het
Kansl1l	C	G	1: 66,812,643 (GRCm39)	E457Q	probably damaging	Het
Krtap4-9	G	A	11: 99,676,481 (GRCm39)		probably benign	Het
Lepr	C	A	4: 101,649,220 (GRCm39)	P874T	probably damaging	Het
Mad2l2	T	A	4: 148,228,067 (GRCm39)	F100L	probably damaging	Het
Mavs	A	T	2: 131,087,518 (GRCm39)	R339*	probably null	Het
Mettl1	G	A	10: 126,877,843 (GRCm39)		probably benign	Het
Mfsd8	A	G	3: 40,774,031 (GRCm39)	V493A	possibly damaging	Het
Mtmr9	C	T	14: 63,779,901 (GRCm39)	V63M	possibly damaging	Het
Mto1	T	C	9: 78,368,131 (GRCm39)	I425T	possibly damaging	Het
Or2av9	A	T	11: 58,380,900 (GRCm39)	M227K	probably damaging	Het
Or5g29	A	G	2: 85,420,950 (GRCm39)	Y22C	probably benign	Het
Or8b36	ATTGCTGTTT	ATTGCTGTTTGCTGTTT	9: 37,937,836 (GRCm39)		probably null	Het
Pclo	C	T	5: 14,727,937 (GRCm39)		probably benign	Het
Phf2	T	C	13: 48,969,533 (GRCm39)	D608G	unknown	Het
Plch2	T	C	4: 155,068,829 (GRCm39)	T1266A	probably benign	Het
Prdm12	A	G	2: 31,533,889 (GRCm39)	N169D	probably damaging	Het
Rimbp3	A	G	16: 17,030,134 (GRCm39)	Y1186C	probably damaging	Het
Serpinb3d	T	C	1: 107,006,989 (GRCm39)	M240V	probably damaging	Het
Slc25a38	C	T	9: 119,945,658 (GRCm39)	R74C	probably damaging	Het
Slc25a39	A	T	11: 102,295,719 (GRCm39)	Y109*	probably null	Het
Slc26a8	T	C	17: 28,867,129 (GRCm39)	N564S	probably damaging	Het
Spag4	G	A	2: 155,907,696 (GRCm39)		probably benign	Het
Stx1b	A	G	7: 127,407,035 (GRCm39)	M74T	possibly damaging	Het
Tbc1d1	A	G	5: 64,507,242 (GRCm39)	D1153G	probably benign	Het
Tert	T	C	13: 73,776,700 (GRCm39)	F484L	probably benign	Het
Tet1	A	G	10: 62,649,494 (GRCm39)	V72A	probably benign	Het
Tnfrsf13c	T	C	15: 82,107,355 (GRCm39)	T147A	probably damaging	Het
Trpa1	A	T	1: 14,959,710 (GRCm39)	Y659N	probably damaging	Het
Trpm2	A	G	10: 77,761,516 (GRCm39)	F1045L	probably benign	Het
Ttc13	T	C	8: 125,405,772 (GRCm39)	H529R	probably benign	Het
Ttn	T	C	2: 76,545,614 (GRCm39)	T32570A	probably damaging	Het
Uba7	A	G	9: 107,860,359 (GRCm39)	T892A	possibly damaging	Het
Uty	A	T	Y: 1,174,836 (GRCm39)	M195K	probably benign	Het
Zfp109	A	G	7: 23,928,978 (GRCm39)	S152P	possibly damaging	Het
Zfp532	T	C	18: 65,777,281 (GRCm39)	V846A	probably damaging	Het
Zfp658	A	T	7: 43,223,951 (GRCm39)	H742L	possibly damaging	Het
Zfp831	C	A	2: 174,547,299 (GRCm39)	P1494Q	probably damaging	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
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
R9547:Abtb1	UTSW	6	88,815,917 (GRCm39)	missense	probably damaging	0.99

Predicted Primers

PCR Primer
(F):5'- ACTCTCTTGAAAGTGGTCATCCAG -3'
(R):5'- TTGAAGGGCATGCCAGCTTG -3'

Sequencing Primer
(F):5'- TAGTCACTGCGGCCACAGAAG -3'
(R):5'- ATGCCAGCTTGGTGGGC -3'

Posted On

2017-08-16