Mutagenetix > Incidental Mutations

Incidental Mutation 'R4793:Abi2'

368727

Institutional Source

Beutler Lab

Gene Symbol

Abi2

Ensembl Gene

ENSMUSG00000026782

Gene Name

abl-interactor 2

Synonyms

8430425M24Rik

Accession Numbers

Genbank: NM_001198570.1, NM_001198571.1, NM_198127.2; Ensembl: ENSMUST00000052332, ENSMUST00000087417

Is this an essential gene?

Non essential (E-score: 0.000) question?

Stock #

R4793 (G1)

Quality Score

141

Status

Validated

Chromosome

Chromosomal Location

60409619-60481158 bp(+) (GRCm38)

Type of Mutation

start codon destroyed

DNA Base Change (assembly)

T to A at 60409804 bp

Zygosity

Heterozygous

Amino Acid Change

Methionine to Lysine at position 1 (M1K)

Ref Sequence

ENSEMBL: ENSMUSP00000140522 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000052332] [ENSMUST00000187709] [ENSMUST00000188594] [ENSMUST00000188618] [ENSMUST00000189082] [ENSMUST00000189980]

Predicted Effect

probably null
Transcript: ENSMUST00000052332
AA Change: M1K

PolyPhen 2 Score 0.199 (Sensitivity: 0.92; Specificity: 0.88)

SMART Domains

Protein: ENSMUSP00000058754
Gene: ENSMUSG00000026782
AA Change: M1K

Domain	Start	End	E-Value	Type
Pfam:Abi_HHR	93	168	1.1e-37	PFAM
low complexity region	236	262	N/A	INTRINSIC
low complexity region	335	370	N/A	INTRINSIC
SH3	387	442	5.55e-24	SMART

Predicted Effect

probably null
Transcript: ENSMUST00000187709
AA Change: M1K

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000139867
Gene: ENSMUSG00000026782
AA Change: M1K

Domain	Start	End	E-Value	Type
Pfam:Abi_HHR	93	165	1.8e-33	PFAM
low complexity region	166	179	N/A	INTRINSIC
low complexity region	236	262	N/A	INTRINSIC
low complexity region	364	399	N/A	INTRINSIC
SH3	416	471	3.4e-26	SMART

Predicted Effect

probably null
Transcript: ENSMUST00000188594
AA Change: M1K

PolyPhen 2 Score 0.987 (Sensitivity: 0.73; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000140750
Gene: ENSMUSG00000026782
AA Change: M1K

Domain	Start	End	E-Value	Type
Pfam:Abi_HHR	93	165	1.7e-33	PFAM
low complexity region	166	179	N/A	INTRINSIC
low complexity region	181	213	N/A	INTRINSIC
low complexity region	217	235	N/A	INTRINSIC
low complexity region	347	382	N/A	INTRINSIC
SH3	399	454	3.4e-26	SMART

Predicted Effect

probably null
Transcript: ENSMUST00000188618
AA Change: M1K

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000140274
Gene: ENSMUSG00000026782
AA Change: M1K

Domain	Start	End	E-Value	Type
Pfam:Abi_HHR	93	171	5.1e-37	PFAM
low complexity region	172	185	N/A	INTRINSIC
low complexity region	242	268	N/A	INTRINSIC
low complexity region	272	290	N/A	INTRINSIC
low complexity region	402	437	N/A	INTRINSIC
SH3	454	487	2.29e0	SMART

Predicted Effect

probably null
Transcript: ENSMUST00000189082
AA Change: M1K

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000140522
Gene: ENSMUSG00000026782
AA Change: M1K

Domain	Start	End	E-Value	Type
Pfam:Abi_HHR	38	115	5.8e-34	PFAM
low complexity region	116	129	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000189649

Predicted Effect

probably null
Transcript: ENSMUST00000189980
AA Change: M1K

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000141068
Gene: ENSMUSG00000026782
AA Change: M1K

Domain	Start	End	E-Value	Type
Pfam:Abi_HHR	93	171	5e-37	PFAM
low complexity region	172	185	N/A	INTRINSIC
low complexity region	242	268	N/A	INTRINSIC
low complexity region	369	404	N/A	INTRINSIC
SH3	421	476	5.55e-24	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000191493

Meta Mutation Damage Score

0.56

Coding Region Coverage

1x: 99.1%
3x: 98.5%
10x: 96.8%
20x: 93.9%

Validation Efficiency

100% (91/91)

MGI Phenotype

PHENOTYPE: Homozygous null mice display microphthalmia, abnormal lens development, abnormal corpus callosum, cerebral cortex, and hippocampus morphology, and impaired contextual conditioning. [provided by MGI curators]

Allele List at MGI

All alleles(30) : Targeted, knock-out(1) Targeted, other(2) Gene trapped(27)

Other mutations in this stock

Total: 86 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca6	T	A	11: 110,191,718	E1143V	probably benign	Het
Acp2	T	C	2: 91,206,789	F205L	probably benign	Het
Adam17	T	C	12: 21,347,395	N219D	probably benign	Het
Aldh2	T	C	5: 121,568,979	S168G	probably damaging	Het
Arhgap15	A	T	2: 44,142,341	E312D	probably damaging	Het
BC017158	A	T	7: 128,288,202		probably benign	Het
Calm5	T	C	13: 3,854,401	S32P	probably benign	Het
Capn12	G	A	7: 28,892,669	D671N	probably benign	Het
Ccdc73	A	G	2: 105,017,782		probably null	Het
Cdc20	T	A	4: 118,437,064	I20F	probably benign	Het
Cdh23	A	T	10: 60,331,350	I1841N	probably damaging	Het
Cftr	T	C	6: 18,226,088	V345A	probably damaging	Het
Col15a1	T	C	4: 47,262,997	S550P	possibly damaging	Het
Col4a4	A	G	1: 82,539,099	Y133H	unknown	Het
Csmd1	A	G	8: 16,088,263	S1592P	probably damaging	Het
Cts6	T	A	13: 61,201,812	M56L	probably benign	Het
Cybb	C	G	X: 9,450,750	D246H	probably benign	Het
Diexf	T	A	1: 193,113,808	Q50L	probably null	Het
Dock5	A	G	14: 67,800,354	S947P	probably benign	Het
Dpysl2	G	T	14: 66,815,049	A339D	possibly damaging	Het
Ebf2	A	G	14: 67,410,082	D360G	probably damaging	Het
Ensa	T	C	3: 95,625,178		probably null	Het
Fap	C	A	2: 62,544,369	V229F	probably damaging	Het
Fbn1	C	A	2: 125,321,235	G2116*	probably null	Het
Frmd4b	A	T	6: 97,295,861	S857T	probably damaging	Het
Fsip2	T	A	2: 82,987,700	Y4592*	probably null	Het
Fubp1	T	A	3: 152,223,329	Y135N	possibly damaging	Het
Gdap2	T	C	3: 100,170,918	L66P	probably damaging	Het
Gm10257	T	C	13: 100,946,797		noncoding transcript	Het
Gm1758	A	T	16: 14,507,172		noncoding transcript	Het
Gna13	T	C	11: 109,363,629		probably benign	Het
Heatr1	T	C	13: 12,431,837	I1689T	probably benign	Het
Hephl1	A	G	9: 15,097,990	I102T	probably benign	Het
Hist1h2bl	T	C	13: 21,715,918	S76G	probably benign	Het
Hltf	T	G	3: 20,063,950	Y121D	possibly damaging	Het
Hspg2	T	C	4: 137,529,473	V1509A	possibly damaging	Het
Ifitm5	G	T	7: 140,950,164	R16S	probably benign	Het
Il1rap	A	C	16: 26,695,234	D239A	probably benign	Het
Kalrn	C	T	16: 33,989,810	D2525N	possibly damaging	Het
Kcna6	T	C	6: 126,738,556	I457V	probably damaging	Het
Kctd17	T	A	15: 78,433,024	L47Q	probably damaging	Het
Kdm1b	C	T	13: 47,063,077	R308W	probably damaging	Het
Klk14	G	A	7: 43,692,077	C51Y	probably damaging	Het
Lrrc63	A	G	14: 75,126,161	S177P	possibly damaging	Het
Lrriq1	T	C	10: 103,170,466	D1266G	probably benign	Het
Map3k2	G	T	18: 32,228,150	M554I	probably damaging	Het
Mettl7a3	A	G	15: 100,335,008	M27V	probably benign	Het
Mst1r	T	A	9: 107,919,925	V1331E	probably damaging	Het
Musk	T	C	4: 58,373,400	I775T	probably damaging	Het
Mybl2	A	G	2: 163,074,763	K7E	probably damaging	Het
Nf1	T	C	11: 79,447,572	S1137P	probably damaging	Het
Nlrp5	A	G	7: 23,417,630	I260V	probably damaging	Het
Olfr1006	A	C	2: 85,674,498	Y218D	probably damaging	Het
Olfr1413	G	T	1: 92,573,485	A105S	possibly damaging	Het
Olfr155	A	T	4: 43,854,323	N5Y	probably benign	Het
Pabpc1l	C	T	2: 164,027,622	A114V	possibly damaging	Het
Plac8l1	T	A	18: 42,178,908	I149F	possibly damaging	Het
Pou6f1	T	A	15: 100,578,412	N531I	probably damaging	Het
Prdm10	A	G	9: 31,353,405	Y712C	probably damaging	Het
Ptbp3	T	C	4: 59,514,297	T43A	possibly damaging	Het
Ptpn13	T	C	5: 103,582,778		probably null	Het
Rnf135	T	C	11: 80,196,949		probably null	Het
Serpinb3d	A	G	1: 107,078,221	L379P	probably damaging	Het
Sh2d6	T	A	6: 72,517,598	T124S	probably benign	Het
Slc26a5	G	A	5: 21,837,994	P153S	probably damaging	Het
Slc5a7	A	G	17: 54,281,794	F275S	possibly damaging	Het
Snx14	A	G	9: 88,394,442	S606P	probably damaging	Het
Sphkap	A	T	1: 83,278,084	I648K	possibly damaging	Het
Spon2	T	C	5: 33,214,560	T301A	probably damaging	Het
Srpr	C	T	9: 35,213,151	T48I	probably benign	Het
Taar9	G	A	10: 24,109,510	P9S	probably benign	Het
Tacc1	A	T	8: 25,182,389	S274R	possibly damaging	Het
Tc2n	A	G	12: 101,651,117	S348P	possibly damaging	Het
Timd2	G	T	11: 46,687,181	T41K	probably damaging	Het
Tmem132a	T	A	19: 10,865,493	E206V	probably damaging	Het
Tpi1	A	T	6: 124,812,581		probably benign	Het
Traf5	T	G	1: 191,997,804	T429P	probably benign	Het
Trav4-3	A	G	14: 53,599,158	S27G	possibly damaging	Het
Tubd1	T	C	11: 86,567,069	M462T	probably benign	Het
Ube4a	T	C	9: 44,948,822	D314G	probably damaging	Het
Vmn2r58	G	T	7: 41,865,071	T158K	probably damaging	Het
Vmn2r68	C	A	7: 85,234,440	M152I	probably benign	Het
Vmn2r91	A	G	17: 18,105,396	E92G	probably damaging	Het
Wdr20rt	T	C	12: 65,226,621	V113A	probably damaging	Het
Zfp729a	T	C	13: 67,620,427	H561R	probably damaging	Het
Zfp804a	T	A	2: 82,235,842	D52E	probably damaging	Het

Other mutations in Abi2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01097:Abi2	APN	1	60447346	missense	probably damaging	1.00
IGL01369:Abi2	APN	1	60437056	missense	probably damaging	1.00
IGL02028:Abi2	APN	1	60434283	missense	probably damaging	1.00
IGL02074:Abi2	APN	1	60447307	missense	probably damaging	1.00
IGL02897:Abi2	APN	1	60448194	missense	probably damaging	0.96
IGL02957:Abi2	APN	1	60470786	missense	probably damaging	1.00
1mM(1):Abi2	UTSW	1	60437057	missense	probably damaging	1.00
P0026:Abi2	UTSW	1	60453723	missense	probably benign	0.42
R0062:Abi2	UTSW	1	60453725	missense	probably benign	0.42
R0062:Abi2	UTSW	1	60453725	missense	probably benign	0.42
R3946:Abi2	UTSW	1	60453754	missense	probably damaging	1.00
R5110:Abi2	UTSW	1	60450121	missense	probably benign	0.00
R5557:Abi2	UTSW	1	60438912	unclassified	probably benign
R6037:Abi2	UTSW	1	60464579	missense	probably damaging	1.00
R6037:Abi2	UTSW	1	60464579	missense	probably damaging	1.00
R6368:Abi2	UTSW	1	60453651	missense	possibly damaging	0.82
R6481:Abi2	UTSW	1	60438939	unclassified	probably null
R7393:Abi2	UTSW	1	60434382	missense	possibly damaging	0.92
R7460:Abi2	UTSW	1	60434307	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- CTAGGAGACGCCGGAAGTG -3'
(R):5'- TCCGGAACACTGACAGGAGAG -3'

Sequencing Primer
(F):5'- GGAATCTTTTTCGGGCGC -3'
(R):5'- CACTGACAGGAGAGGACTGC -3'

Posted On

2016-02-04