Mutagenetix > Incidental Mutation

Incidental Mutation 'R7393:Abi2'

573563

Institutional Source

Beutler Lab

Gene Symbol

Abi2

Ensembl Gene

ENSMUSG00000026782

Gene Name

abl interactor 2

Synonyms

8430425M24Rik

MMRRC Submission

045475-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R7393 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

60448778-60520317 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 60473541 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Methionine to Threonine at position 86 (M86T)

Ref Sequence

ENSEMBL: ENSMUSP00000140274 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000052332] [ENSMUST00000185788] [ENSMUST00000186097] [ENSMUST00000187709] [ENSMUST00000188594] [ENSMUST00000188618] [ENSMUST00000189082] [ENSMUST00000189980] [ENSMUST00000190158]

AlphaFold

P62484

Predicted Effect

possibly damaging
Transcript: ENSMUST00000052332
AA Change: M86T

PolyPhen 2 Score 0.910 (Sensitivity: 0.81; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000058754
Gene: ENSMUSG00000026782
AA Change: M86T

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 benign
Transcript: ENSMUST00000185788

SMART Domains

Protein: ENSMUSP00000139483
Gene: ENSMUSG00000026782

Domain	Start	End	E-Value	Type
Pfam:Abi_HHR	1	67	4.4e-25	PFAM
low complexity region	68	81	N/A	INTRINSIC
low complexity region	83	115	N/A	INTRINSIC
low complexity region	119	137	N/A	INTRINSIC
low complexity region	249	284	N/A	INTRINSIC
SH3	301	356	3.4e-26	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000186097

SMART Domains

Protein: ENSMUSP00000139501
Gene: ENSMUSG00000026782

Domain	Start	End	E-Value	Type
low complexity region	25	38	N/A	INTRINSIC
low complexity region	95	121	N/A	INTRINSIC
low complexity region	125	143	N/A	INTRINSIC
low complexity region	284	319	N/A	INTRINSIC
SH3	336	391	3.4e-26	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000187400

Predicted Effect

probably damaging
Transcript: ENSMUST00000187709
AA Change: M86T

PolyPhen 2 Score 0.991 (Sensitivity: 0.71; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000139867
Gene: ENSMUSG00000026782
AA Change: M86T

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 damaging
Transcript: ENSMUST00000188594
AA Change: M86T

PolyPhen 2 Score 0.990 (Sensitivity: 0.72; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000140750
Gene: ENSMUSG00000026782
AA Change: M86T

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

possibly damaging
Transcript: ENSMUST00000188618
AA Change: M86T

PolyPhen 2 Score 0.920 (Sensitivity: 0.81; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000140274
Gene: ENSMUSG00000026782
AA Change: M86T

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 benign
Transcript: ENSMUST00000189082

SMART Domains

Protein: ENSMUSP00000140522
Gene: ENSMUSG00000026782

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

possibly damaging
Transcript: ENSMUST00000189980
AA Change: M86T

PolyPhen 2 Score 0.941 (Sensitivity: 0.80; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000141068
Gene: ENSMUSG00000026782
AA Change: M86T

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

probably benign
Transcript: ENSMUST00000190158

SMART Domains

Protein: ENSMUSP00000139743
Gene: ENSMUSG00000026782

Domain	Start	End	E-Value	Type
low complexity region	18	31	N/A	INTRINSIC
low complexity region	33	65	N/A	INTRINSIC
low complexity region	69	87	N/A	INTRINSIC
PDB:4N78\|F	88	196	5e-62	PDB
low complexity region	226	261	N/A	INTRINSIC
SH3	278	333	3.4e-26	SMART

Coding Region Coverage

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

Validation Efficiency

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: 69 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcb11	C	T	2: 69,130,211 (GRCm39)	D282N	probably damaging	Het
Adam26a	T	C	8: 44,022,725 (GRCm39)	N255S	probably benign	Het
Adam4	G	A	12: 81,466,434 (GRCm39)	S729L	probably benign	Het
Adcy1	G	T	11: 7,087,381 (GRCm39)	W418C	probably damaging	Het
Add2	T	A	6: 86,075,629 (GRCm39)	Y259*	probably null	Het
Agl	A	T	3: 116,584,805 (GRCm39)	C172S	probably benign	Het
Ankfy1	A	G	11: 72,629,134 (GRCm39)	T319A	possibly damaging	Het
Armc8	A	T	9: 99,366,052 (GRCm39)	C621S	possibly damaging	Het
Atp5mj	A	G	12: 111,929,711 (GRCm39)	V26A	probably benign	Het
Bbc3	A	G	7: 16,047,714 (GRCm39)	D146G	probably benign	Het
Btnl10	T	C	11: 58,814,532 (GRCm39)	L404P	probably damaging	Het
Cbl	A	G	9: 44,065,485 (GRCm39)		probably null	Het
Ccdc170	T	A	10: 4,464,314 (GRCm39)		probably null	Het
Ccdc91	T	A	6: 147,435,527 (GRCm39)	V37E	possibly damaging	Het
Ces1e	G	T	8: 93,937,045 (GRCm39)	T343K	probably benign	Het
Chfr	T	A	5: 110,300,224 (GRCm39)	F323I	probably damaging	Het
Clcnkb	T	A	4: 141,136,756 (GRCm39)	M370L	probably benign	Het
Col11a1	A	G	3: 113,890,755 (GRCm39)	D364G	unknown	Het
Ctbp2	A	G	7: 132,590,021 (GRCm39)	I381T	probably benign	Het
Cyp4a29	A	C	4: 115,099,393 (GRCm39)	Y38S	probably damaging	Het
Ddx1	T	C	12: 13,280,354 (GRCm39)	D382G	probably benign	Het
Dhx57	T	A	17: 80,563,000 (GRCm39)	N876Y	probably damaging	Het
Dsel	C	T	1: 111,789,303 (GRCm39)	G411S	probably damaging	Het
Enpp5	G	A	17: 44,396,155 (GRCm39)	G356S	probably damaging	Het
Fam234a	T	C	17: 26,435,598 (GRCm39)	D262G	probably benign	Het
Fnbp4	C	A	2: 90,609,660 (GRCm39)	Q1035K	probably damaging	Het
Gbp11	T	A	5: 105,475,443 (GRCm39)	N302Y	possibly damaging	Het
Gm11554	T	A	11: 99,694,698 (GRCm39)	T172S	unknown	Het
Hamp2	A	T	7: 30,622,030 (GRCm39)	M53K	possibly damaging	Het
Kcnj1	A	G	9: 32,308,314 (GRCm39)	D246G	probably damaging	Het
Kctd20	T	C	17: 29,182,312 (GRCm39)	F209L	probably damaging	Het
Klra2	T	C	6: 131,207,165 (GRCm39)	Y148C	probably damaging	Het
Krtap15-1	T	C	16: 88,625,985 (GRCm39)		probably null	Het
Mrps23	T	C	11: 88,095,284 (GRCm39)	L6P	probably damaging	Het
Ms4a6d	G	A	19: 11,567,437 (GRCm39)	Q155*	probably null	Het
Myo7a	G	A	7: 97,712,906 (GRCm39)	R1690C	possibly damaging	Het
Nbas	T	C	12: 13,443,493 (GRCm39)	S1183P	probably damaging	Het
Ndufaf4	T	A	4: 24,903,177 (GRCm39)	M122K	probably benign	Het
Nop2	C	A	6: 125,110,509 (GRCm39)	S45*	probably null	Het
Nop56	T	A	2: 130,116,558 (GRCm39)	L3Q	probably benign	Het
Nrp2	T	C	1: 62,784,583 (GRCm39)	I244T	probably damaging	Het
Or4d10c	T	A	19: 12,065,992 (GRCm39)	T55S	probably benign	Het
Or51v14	A	G	7: 103,261,198 (GRCm39)	S121P	possibly damaging	Het
Otof	T	C	5: 30,527,614 (GRCm39)	D1941G	probably benign	Het
Pcyox1l	T	C	18: 61,830,712 (GRCm39)	K387E	probably benign	Het
Plcg2	A	G	8: 118,306,564 (GRCm39)	Y306C	possibly damaging	Het
Ppp1r13b	G	A	12: 111,805,188 (GRCm39)	P333S	probably damaging	Het
Rcc2	A	G	4: 140,444,341 (GRCm39)	D344G	probably damaging	Het
Reln	A	T	5: 22,181,349 (GRCm39)	N1810K	probably damaging	Het
Rfesd	G	T	13: 76,151,149 (GRCm39)	A90E	probably benign	Het
Rsf1	CGGCGGCGG	CGGCGGCGGGGGCGGCGG	7: 97,229,124 (GRCm39)		probably benign	Het
Scg2	T	C	1: 79,412,948 (GRCm39)	K552E	probably damaging	Het
Sdccag8	A	G	1: 176,667,872 (GRCm39)	I190V	probably benign	Het
Sele	C	A	1: 163,881,492 (GRCm39)	T533K	probably benign	Het
Sh3bp4	T	A	1: 89,072,170 (GRCm39)	H339Q	possibly damaging	Het
Slc6a19	A	G	13: 73,841,093 (GRCm39)	S106P	probably benign	Het
Spidr	C	T	16: 15,964,695 (GRCm39)		probably benign	Het
Stk36	A	T	1: 74,650,352 (GRCm39)	K295*	probably null	Het
Synj1	A	T	16: 90,748,887 (GRCm39)	D1056E	probably damaging	Het
Tnks1bp1	T	C	2: 84,893,210 (GRCm39)	S1046P	probably benign	Het
Ttc27	T	G	17: 75,077,259 (GRCm39)	F385V	possibly damaging	Het
Ttn	C	A	2: 76,774,689 (GRCm39)	G2164W	unknown	Het
Ubap1	T	A	4: 41,379,764 (GRCm39)	L326*	probably null	Het
Ubr4	A	G	4: 139,154,096 (GRCm39)	N812S	probably damaging	Het
Vmn1r160	A	G	7: 22,570,778 (GRCm39)	T44A	possibly damaging	Het
Vmn1r28	G	A	6: 58,242,574 (GRCm39)	S139N	possibly damaging	Het
Vmn2r116	A	G	17: 23,605,099 (GRCm39)	I137M	probably benign	Het
Vmn2r67	A	T	7: 84,805,086 (GRCm39)	W9R	probably null	Het
Zfp101	T	C	17: 33,605,674 (GRCm39)	N45D	possibly damaging	Het

Other mutations in Abi2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01097:Abi2	APN	1	60,486,505 (GRCm39)	missense	probably damaging	1.00
IGL01369:Abi2	APN	1	60,476,215 (GRCm39)	missense	probably damaging	1.00
IGL02028:Abi2	APN	1	60,473,442 (GRCm39)	missense	probably damaging	1.00
IGL02074:Abi2	APN	1	60,486,466 (GRCm39)	missense	probably damaging	1.00
IGL02897:Abi2	APN	1	60,487,353 (GRCm39)	missense	probably damaging	0.96
IGL02957:Abi2	APN	1	60,509,945 (GRCm39)	missense	probably damaging	1.00
1mM(1):Abi2	UTSW	1	60,476,216 (GRCm39)	missense	probably damaging	1.00
P0026:Abi2	UTSW	1	60,492,882 (GRCm39)	missense	probably benign	0.42
R0062:Abi2	UTSW	1	60,492,884 (GRCm39)	missense	probably benign	0.42
R0062:Abi2	UTSW	1	60,492,884 (GRCm39)	missense	probably benign	0.42
R3946:Abi2	UTSW	1	60,492,913 (GRCm39)	missense	probably damaging	1.00
R4793:Abi2	UTSW	1	60,448,963 (GRCm39)	start codon destroyed	probably null	1.00
R5110:Abi2	UTSW	1	60,489,280 (GRCm39)	missense	probably benign	0.00
R5557:Abi2	UTSW	1	60,478,071 (GRCm39)	unclassified	probably benign
R6037:Abi2	UTSW	1	60,503,738 (GRCm39)	missense	probably damaging	1.00
R6037:Abi2	UTSW	1	60,503,738 (GRCm39)	missense	probably damaging	1.00
R6368:Abi2	UTSW	1	60,492,810 (GRCm39)	missense	possibly damaging	0.82
R6481:Abi2	UTSW	1	60,478,098 (GRCm39)	splice site	probably null
R7460:Abi2	UTSW	1	60,473,466 (GRCm39)	missense	probably damaging	1.00
R7573:Abi2	UTSW	1	60,509,867 (GRCm39)	missense	probably benign	0.37
R7744:Abi2	UTSW	1	60,476,362 (GRCm39)	missense	probably benign	0.00
R8843:Abi2	UTSW	1	60,492,888 (GRCm39)	missense	probably null
R8988:Abi2	UTSW	1	60,489,251 (GRCm39)	missense	probably benign	0.08
R9464:Abi2	UTSW	1	60,478,100 (GRCm39)	critical splice acceptor site	probably null
R9528:Abi2	UTSW	1	60,473,453 (GRCm39)	missense	probably damaging	0.99
R9569:Abi2	UTSW	1	60,503,763 (GRCm39)	missense	probably damaging	0.97
R9576:Abi2	UTSW	1	60,449,008 (GRCm39)	missense	possibly damaging	0.68
Z1177:Abi2	UTSW	1	60,476,324 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- TGTCATTGCTCAAAGTATACACTGG -3'
(R):5'- CATCACAGCAGGACATAAAGTG -3'

Sequencing Primer
(F):5'- TGCTCAAAGTATACACTGGAACTC -3'
(R):5'- TCACAGCAGGACATAAAGTGAGTAAG -3'

Posted On

2019-09-13