Mutagenetix > Incidental Mutation

Incidental Mutation 'R7469:Abtb2'

579008

Institutional Source

Beutler Lab

Gene Symbol

Abtb2

Ensembl Gene

ENSMUSG00000032724

Gene Name

ankyrin repeat and BTB domain containing 2

Synonyms

BPOZ-2

MMRRC Submission

045543-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R7469 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

103396655-103548768 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 103397292 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 74 (V74A)

Ref Sequence

ENSEMBL: ENSMUSP00000075566 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000076212]

AlphaFold

Q7TQI7

Predicted Effect

probably benign
Transcript: ENSMUST00000076212
AA Change: V74A

PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)

SMART Domains

Protein: ENSMUSP00000075566
Gene: ENSMUSG00000032724
AA Change: V74A

Domain	Start	End	E-Value	Type
low complexity region	29	48	N/A	INTRINSIC
low complexity region	122	143	N/A	INTRINSIC
Blast:H2A	186	301	2e-38	BLAST
low complexity region	366	376	N/A	INTRINSIC
ANK	521	550	4.78e-7	SMART
ANK	567	596	6.26e-2	SMART
ANK	606	635	3.65e-3	SMART
ANK	649	678	5.52e2	SMART
ANK	715	746	1.84e3	SMART
BTB	844	946	9.15e-24	SMART

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.7%
20x: 99.1%

Validation Efficiency

97% (77/79)

Allele List at MGI

Other mutations in this stock

Total: 79 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcc3	A	G	11: 94,259,014 (GRCm39)	L443P	probably damaging	Het
Adam5	A	T	8: 25,305,541 (GRCm39)	F66I	probably benign	Het
Aff1	T	A	5: 103,981,413 (GRCm39)	D517E	probably benign	Het
Agbl3	A	G	6: 34,791,349 (GRCm39)	K559R	probably damaging	Het
Aldh1l2	A	C	10: 83,343,969 (GRCm39)	V482G	probably damaging	Het
Ankra2	C	T	13: 98,402,882 (GRCm39)	A43V	probably benign	Het
Ankrd50	C	A	3: 38,508,342 (GRCm39)	V419F	probably damaging	Het
Arhgef16	G	A	4: 154,375,763 (GRCm39)	T77M	probably damaging	Het
Best3	T	C	10: 116,840,290 (GRCm39)	V240A	probably damaging	Het
Btbd7	T	C	12: 102,779,027 (GRCm39)	Y413C	probably damaging	Het
Bzw2	A	T	12: 36,157,550 (GRCm39)	V305E	probably damaging	Het
Cacng8	G	A	7: 3,463,621 (GRCm39)	A258T	possibly damaging	Het
Cfap157	T	C	2: 32,670,696 (GRCm39)	Y184C	probably damaging	Het
Chmp3	T	A	6: 71,556,652 (GRCm39)	V184E	possibly damaging	Het
Cst5	C	T	2: 149,247,496 (GRCm39)	L71F	probably benign	Het
Ctdspl2	A	T	2: 121,837,362 (GRCm39)	E376D	possibly damaging	Het
Cyfip1	A	G	7: 55,527,468 (GRCm39)	D200G	possibly damaging	Het
Cylc2	T	A	4: 51,227,970 (GRCm39)		probably null	Het
Cyp2c66	T	A	19: 39,172,307 (GRCm39)	F407L	probably damaging	Het
Dcp2	T	C	18: 44,529,019 (GRCm39)	F45L	probably damaging	Het
Dhx34	C	T	7: 15,950,364 (GRCm39)	R268H	probably benign	Het
Dnajc7	A	T	11: 100,482,377 (GRCm39)	M205K	probably benign	Het
Dzip3	C	T	16: 48,765,242 (GRCm39)	V491M	probably benign	Het
Farp1	T	C	14: 121,512,833 (GRCm39)	L777P	probably damaging	Het
Fchsd2	T	G	7: 100,927,863 (GRCm39)		probably null	Het
Fer1l6	A	T	15: 58,462,419 (GRCm39)		probably null	Het
Fhip1a	T	C	3: 85,580,069 (GRCm39)	D712G	probably benign	Het
Fitm2	A	G	2: 163,311,742 (GRCm39)	F157S	probably damaging	Het
Flt1	G	T	5: 147,540,379 (GRCm39)	A770E	probably damaging	Het
Flt3	T	A	5: 147,268,084 (GRCm39)	E967V	probably benign	Het
Foxc1	G	C	13: 31,992,361 (GRCm39)	A391P	unknown	Het
Foxc1	C	T	13: 31,992,362 (GRCm39)	A391V	unknown	Het
Gimap6	T	A	6: 48,679,392 (GRCm39)	T215S	probably benign	Het
Gm2431	A	T	7: 141,811,518 (GRCm39)	C129S	unknown	Het
Itpr3	T	C	17: 27,340,028 (GRCm39)	S2636P	possibly damaging	Het
Lsg1	A	G	16: 30,380,635 (GRCm39)	Y601H	probably benign	Het
Map4	G	T	9: 109,856,865 (GRCm39)		probably null	Het
Mga	T	C	2: 119,733,527 (GRCm39)	M125T	probably damaging	Het
Mxi1	A	G	19: 53,360,091 (GRCm39)	D271G	probably damaging	Het
Ndst3	T	A	3: 123,465,310 (GRCm39)	T221S	possibly damaging	Het
Neto1	T	A	18: 86,516,813 (GRCm39)	S377T	probably benign	Het
Nkx6-2	T	C	7: 139,161,555 (GRCm39)	E210G	probably damaging	Het
Nos2	G	T	11: 78,843,797 (GRCm39)	V915F	possibly damaging	Het
Nrros	G	A	16: 31,963,030 (GRCm39)	A329V	probably benign	Het
Numb	T	C	12: 83,850,578 (GRCm39)	K211E	probably benign	Het
Nup210	T	A	6: 90,995,874 (GRCm39)	I1671F	probably benign	Het
Or12j3	G	A	7: 139,953,050 (GRCm39)	L158F	possibly damaging	Het
Or4c106	T	A	2: 88,682,847 (GRCm39)	D184E	probably benign	Het
Or4c31	T	A	2: 88,291,691 (GRCm39)	H2Q	probably benign	Het
Pcdh15	A	T	10: 74,481,812 (GRCm39)	M386L	probably benign	Het
Pcdhb3	C	A	18: 37,434,388 (GRCm39)	T118K	probably benign	Het
Pcdhb8	A	T	18: 37,489,011 (GRCm39)	I230F	probably damaging	Het
Peli2	G	A	14: 48,488,015 (GRCm39)	V120I	probably benign	Het
Pramel15	T	A	4: 144,099,673 (GRCm39)	Q364L	probably damaging	Het
Pramel7	T	A	2: 87,321,748 (GRCm39)	M96L	probably benign	Het
Prex2	T	A	1: 11,355,293 (GRCm39)	S1531R	probably damaging	Het
Prpf31	A	G	7: 3,636,392 (GRCm39)	T138A	possibly damaging	Het
Psme4	C	T	11: 30,752,837 (GRCm39)	T175I	probably benign	Het
Rasgrf2	A	G	13: 92,165,530 (GRCm39)		probably null	Het
Rps19	T	A	7: 24,589,190 (GRCm39)	*146K	probably null	Het
Rsu1	T	C	2: 13,082,371 (GRCm39)	N260S	probably benign	Het
Serpina3k	T	C	12: 104,311,594 (GRCm39)	C391R	not run	Het
Sipa1l1	T	G	12: 82,467,438 (GRCm39)		probably null	Het
Snd1	T	A	6: 28,626,126 (GRCm39)	Y394N	probably damaging	Het
Spaca4	A	T	7: 45,374,831 (GRCm39)	V57E	probably damaging	Het
Spata31d1b	A	G	13: 59,863,278 (GRCm39)	Y142C	probably benign	Het
Sptbn2	A	G	19: 4,795,146 (GRCm39)	K1535E	probably benign	Het
Srcin1	A	G	11: 97,425,435 (GRCm39)	S541P	probably damaging	Het
Tc2n	A	T	12: 101,631,934 (GRCm39)	F308I	probably damaging	Het
Tdrd5	T	C	1: 156,090,475 (GRCm39)	D857G	probably benign	Het
Timm22	A	G	11: 76,298,134 (GRCm39)	D35G	probably benign	Het
Tram1l1	C	A	3: 124,114,889 (GRCm39)	H16Q	probably benign	Het
Uggt1	T	C	1: 36,190,814 (GRCm39)	Y1382C	probably damaging	Het
Usp32	G	T	11: 84,879,379 (GRCm39)	D1443E	possibly damaging	Het
Uty	A	T	Y: 1,131,072 (GRCm39)	C1046S	possibly damaging	Het
Wdr31	T	A	4: 62,375,768 (GRCm39)	Q230L	probably damaging	Het
Wnt8b	C	A	19: 44,500,001 (GRCm39)	T196K	possibly damaging	Het
Xpo4	A	T	14: 57,835,436 (GRCm39)	H628Q	probably benign	Het
Zfp780b	C	T	7: 27,663,382 (GRCm39)	S391N	probably benign	Het

Other mutations in Abtb2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01161:Abtb2	APN	2	103,535,463 (GRCm39)	missense	probably benign	0.00
IGL02605:Abtb2	APN	2	103,547,602 (GRCm39)	missense	probably benign
IGL03161:Abtb2	APN	2	103,397,799 (GRCm39)	missense	probably benign	0.02
PIT4504001:Abtb2	UTSW	2	103,547,537 (GRCm39)	nonsense	probably null
R0147:Abtb2	UTSW	2	103,397,480 (GRCm39)	missense	probably benign	0.04
R1052:Abtb2	UTSW	2	103,535,417 (GRCm39)	missense	possibly damaging	0.46
R1419:Abtb2	UTSW	2	103,539,765 (GRCm39)	missense	probably benign	0.00
R1518:Abtb2	UTSW	2	103,539,629 (GRCm39)	missense	probably benign	0.03
R1650:Abtb2	UTSW	2	103,532,747 (GRCm39)	missense	probably damaging	1.00
R1795:Abtb2	UTSW	2	103,397,369 (GRCm39)	missense	probably benign	0.00
R2054:Abtb2	UTSW	2	103,535,462 (GRCm39)	missense	probably benign	0.41
R2101:Abtb2	UTSW	2	103,397,207 (GRCm39)	missense	probably benign	0.05
R2363:Abtb2	UTSW	2	103,397,528 (GRCm39)	missense	probably damaging	1.00
R3440:Abtb2	UTSW	2	103,397,577 (GRCm39)	missense	probably benign	0.43
R3927:Abtb2	UTSW	2	103,538,563 (GRCm39)	splice site	probably null
R4351:Abtb2	UTSW	2	103,513,738 (GRCm39)	missense	possibly damaging	0.46
R4352:Abtb2	UTSW	2	103,513,738 (GRCm39)	missense	possibly damaging	0.46
R4782:Abtb2	UTSW	2	103,547,644 (GRCm39)	missense	probably benign	0.35
R4814:Abtb2	UTSW	2	103,547,632 (GRCm39)	missense	probably benign	0.08
R4831:Abtb2	UTSW	2	103,513,820 (GRCm39)	missense	probably benign	0.06
R4900:Abtb2	UTSW	2	103,397,349 (GRCm39)	missense	possibly damaging	0.62
R5038:Abtb2	UTSW	2	103,397,408 (GRCm39)	missense	probably damaging	0.99
R5513:Abtb2	UTSW	2	103,539,623 (GRCm39)	critical splice acceptor site	probably null
R6119:Abtb2	UTSW	2	103,532,655 (GRCm39)	missense	probably benign	0.00
R6298:Abtb2	UTSW	2	103,539,833 (GRCm39)	missense	probably benign	0.10
R6383:Abtb2	UTSW	2	103,397,721 (GRCm39)	missense	probably damaging	0.98
R6860:Abtb2	UTSW	2	103,539,770 (GRCm39)	nonsense	probably null
R7000:Abtb2	UTSW	2	103,542,787 (GRCm39)	missense	possibly damaging	0.85
R7109:Abtb2	UTSW	2	103,545,860 (GRCm39)	missense	probably benign	0.20
R7176:Abtb2	UTSW	2	103,539,720 (GRCm39)	missense	probably benign	0.00
R7189:Abtb2	UTSW	2	103,397,861 (GRCm39)	missense	probably benign	0.00
R7199:Abtb2	UTSW	2	103,397,565 (GRCm39)	missense	possibly damaging	0.74
R7299:Abtb2	UTSW	2	103,532,769 (GRCm39)	splice site	probably null
R7347:Abtb2	UTSW	2	103,397,757 (GRCm39)	missense	probably damaging	1.00
R7629:Abtb2	UTSW	2	103,513,838 (GRCm39)	critical splice donor site	probably null
R7862:Abtb2	UTSW	2	103,532,626 (GRCm39)	missense	probably damaging	1.00
R8200:Abtb2	UTSW	2	103,531,162 (GRCm39)	missense	probably benign	0.02
R8682:Abtb2	UTSW	2	103,397,720 (GRCm39)	missense	probably benign	0.36
R8700:Abtb2	UTSW	2	103,397,289 (GRCm39)	missense	probably damaging	0.99
R9164:Abtb2	UTSW	2	103,541,829 (GRCm39)	missense	possibly damaging	0.50
R9196:Abtb2	UTSW	2	103,513,647 (GRCm39)	missense	possibly damaging	0.71
R9254:Abtb2	UTSW	2	103,541,580 (GRCm39)	missense	probably benign	0.00
R9258:Abtb2	UTSW	2	103,546,410 (GRCm39)	missense	probably null	0.99
R9343:Abtb2	UTSW	2	103,547,505 (GRCm39)	missense	probably benign
R9427:Abtb2	UTSW	2	103,531,244 (GRCm39)	missense	probably damaging	1.00
R9675:Abtb2	UTSW	2	103,538,532 (GRCm39)	missense	probably benign
Z1176:Abtb2	UTSW	2	103,538,517 (GRCm39)	nonsense	probably null
Z1177:Abtb2	UTSW	2	103,541,541 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- TGGAGGACTTGACCTTGGACTC -3'
(R):5'- TGTAGAGGGACAACGCCTTG -3'

Sequencing Primer
(F):5'- ACCTTGGACTCCGGGTATG -3'
(R):5'- TCGAAGCGGGTGCACTTAG -3'

Posted On

2019-10-07