Mutagenetix > Incidental Mutation

Incidental Mutation 'R8988:Abi2'

684186

Institutional Source

Beutler Lab

Gene Symbol

Abi2

Ensembl Gene

ENSMUSG00000026782

Gene Name

abl interactor 2

Synonyms

8430425M24Rik

MMRRC Submission

068820-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R8988 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

60448778-60520317 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 60489251 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Isoleucine at position 291 (T291I)

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

probably benign
Transcript: ENSMUST00000052332

SMART Domains

Protein: ENSMUSP00000058754
Gene: ENSMUSG00000026782

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

unknown
Transcript: ENSMUST00000185788
AA Change: T138I

SMART Domains

Protein: ENSMUSP00000139483
Gene: ENSMUSG00000026782
AA Change: T138I

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 damaging
Transcript: ENSMUST00000186097
AA Change: T144I

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

SMART Domains

Protein: ENSMUSP00000139501
Gene: ENSMUSG00000026782
AA Change: T144I

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 benign
Transcript: ENSMUST00000187709

SMART Domains

Protein: ENSMUSP00000139867
Gene: ENSMUSG00000026782

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

unknown
Transcript: ENSMUST00000188594
AA Change: T236I

SMART Domains

Protein: ENSMUSP00000140750
Gene: ENSMUSG00000026782
AA Change: T236I

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 benign
Transcript: ENSMUST00000188618
AA Change: T291I

PolyPhen 2 Score 0.081 (Sensitivity: 0.93; Specificity: 0.85)

SMART Domains

Protein: ENSMUSP00000140274
Gene: ENSMUSG00000026782
AA Change: T291I

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

probably benign
Transcript: ENSMUST00000189980

SMART Domains

Protein: ENSMUSP00000141068
Gene: ENSMUSG00000026782

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 damaging
Transcript: ENSMUST00000190158
AA Change: T88I

PolyPhen 2 Score 0.988 (Sensitivity: 0.73; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000139743
Gene: ENSMUSG00000026782
AA Change: T88I

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: 99.9%
10x: 99.5%
20x: 98.3%

Validation Efficiency

96% (81/84)

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: 84 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aox1	A	C	1: 58,088,625 (GRCm39)	D137A	possibly damaging	Het
Apbb2	T	C	5: 66,609,444 (GRCm39)	K68E	probably damaging	Het
Arf3	A	T	15: 98,638,933 (GRCm39)	M108K	probably benign	Het
Atg2b	T	A	12: 105,583,388 (GRCm39)	I2058F	probably damaging	Het
Bhlhe40	C	T	6: 108,639,518 (GRCm39)	L99F	probably damaging	Het
Cd200l1	T	C	16: 45,238,271 (GRCm39)	H294R	probably benign	Het
Cyp2b10	G	A	7: 25,625,670 (GRCm39)	R500H	probably damaging	Het
Dlc1	C	T	8: 37,039,997 (GRCm39)	E937K	probably damaging	Het
Dll3	A	T	7: 27,995,793 (GRCm39)	V336D	possibly damaging	Het
Dync2h1	A	G	9: 7,037,727 (GRCm39)	F3377L	probably benign	Het
Eef1d	A	G	15: 75,768,160 (GRCm39)	Y561H	probably damaging	Het
Efcab3	T	G	11: 104,911,352 (GRCm39)	V4544G	probably benign	Het
Epb41l1	C	A	2: 156,363,591 (GRCm39)	T700K	probably benign	Het
Epha8	G	T	4: 136,665,897 (GRCm39)	L420M	probably damaging	Het
Ephb2	C	A	4: 136,402,769 (GRCm39)	G501C	probably benign	Het
Erbb3	T	C	10: 128,406,030 (GRCm39)	Y1129C	probably damaging	Het
Fbn1	C	T	2: 125,212,726 (GRCm39)	V799M	possibly damaging	Het
Fbxo9	G	A	9: 77,991,933 (GRCm39)	P353S	probably benign	Het
Ggt1	T	G	10: 75,412,056 (GRCm39)	V100G	probably benign	Het
Gm45861	T	C	8: 28,032,531 (GRCm39)	M885T	unknown	Het
Grin2d	A	T	7: 45,483,425 (GRCm39)	Y917*	probably null	Het
Hectd4	T	A	5: 121,415,819 (GRCm39)	V540D	possibly damaging	Het
Helz	T	A	11: 107,495,079 (GRCm39)	I351K	probably damaging	Het
Ighv2-6-8	A	G	12: 113,759,980 (GRCm39)	V43A	probably damaging	Het
Igkv9-129	T	A	6: 67,817,106 (GRCm39)	I70N	probably damaging	Het
Il18	A	T	9: 50,489,178 (GRCm39)	D69V	probably damaging	Het
Kcnh7	T	A	2: 62,552,209 (GRCm39)	E927D		Het
Kcnt2	T	A	1: 140,356,587 (GRCm39)	V342E	probably benign	Het
Khdc4	A	G	3: 88,607,286 (GRCm39)	N330S	probably benign	Het
Krt1	AAGCTGCCACCCCCAAAGCCACCACCGCCGTAGCTGCCACCCCCAAAGCCACCACCGCCGTAGCTGCCACCCCCAAAGCCACCAC	AAGCTGCCACCCCCAAAGCCACCACCGCCGTAGCTGCCACCCCCAAAGCCACCAC	15: 101,758,813 (GRCm39)		probably benign	Het
Krt18	C	G	15: 101,937,962 (GRCm39)	A153G	probably damaging	Het
Lmntd2	A	T	7: 140,791,977 (GRCm39)		probably benign	Het
Lrrc26	G	T	2: 25,180,286 (GRCm39)	A96S	probably benign	Het
Map3k11	A	T	19: 5,752,166 (GRCm39)	S783C	probably damaging	Het
Mib2	G	A	4: 155,740,729 (GRCm39)	L632F	possibly damaging	Het
Mical2	A	C	7: 111,910,661 (GRCm39)	D277A	possibly damaging	Het
Mtr	A	T	13: 12,250,365 (GRCm39)	F339L	probably benign	Het
Musk	T	C	4: 58,354,032 (GRCm39)	F362L	probably benign	Het
Ncor1	G	A	11: 62,233,871 (GRCm39)	Q444*	probably null	Het
Nek4	T	C	14: 30,685,924 (GRCm39)	S279P		Het
Nell1	C	T	7: 50,210,543 (GRCm39)	T348I	unknown	Het
Nicn1	C	T	9: 108,171,708 (GRCm39)	R163C	possibly damaging	Het
Nrip1	T	C	16: 76,088,902 (GRCm39)	H885R	probably damaging	Het
Or13a19	G	A	7: 139,902,938 (GRCm39)	G109R	possibly damaging	Het
Or2a5	T	A	6: 42,874,201 (GRCm39)	V272D		Het
Or2y12	C	A	11: 49,426,028 (GRCm39)	N5K	probably damaging	Het
Or6c208	T	C	10: 129,224,240 (GRCm39)	V246A	probably damaging	Het
Or6c69c	T	A	10: 129,910,522 (GRCm39)	V81D	possibly damaging	Het
Or6d14	A	G	6: 116,534,255 (GRCm39)	T290A	possibly damaging	Het
Otog	A	G	7: 45,959,571 (GRCm39)	D720G	probably damaging	Het
P3h3	C	A	6: 124,834,564 (GRCm39)	Q29H	possibly damaging	Het
Parn	A	G	16: 13,466,281 (GRCm39)		probably null	Het
Pcnt	C	A	10: 76,245,407 (GRCm39)	E1077*	probably null	Het
Peg10	CCACATCAGGATCCACATCAGGATGCACATCAGCATCAGGATCCCCATCAGGATGCACATCAGGATCCACATCAGGATGCACATCAG	CCACATCAGGATCCACATCAGGATGCACATCAG	6: 4,756,398 (GRCm39)		probably benign	Het
Pigb	A	G	9: 72,929,576 (GRCm39)	W336R	probably damaging	Het
Pkdrej	A	T	15: 85,700,538 (GRCm39)	S1799R	probably damaging	Het
Pnpla6	G	T	8: 3,567,401 (GRCm39)	M86I	possibly damaging	Het
Prickle2	T	C	6: 92,435,620 (GRCm39)	K50E	possibly damaging	Het
Psg21	A	G	7: 18,386,389 (GRCm39)	V199A	probably benign	Het
Reep3	T	C	10: 66,871,786 (GRCm39)		probably null	Het
Reln	T	C	5: 22,104,155 (GRCm39)	D3272G	probably damaging	Het
Rps6ka4	A	G	19: 6,808,667 (GRCm39)	V526A	possibly damaging	Het
Sel1l3	T	C	5: 53,280,771 (GRCm39)	E911G	probably damaging	Het
Serpinb6b	C	A	13: 33,162,125 (GRCm39)	A308E	probably benign	Het
Slc26a4	A	G	12: 31,572,523 (GRCm39)	V746A	probably benign	Het
Slc4a3	T	G	1: 75,527,957 (GRCm39)	M402R	probably damaging	Het
Slc9b1	A	T	3: 135,078,900 (GRCm39)	T186S	possibly damaging	Het
Slk	A	G	19: 47,608,712 (GRCm39)	Q555R	probably benign	Het
Smc2	T	A	4: 52,475,100 (GRCm39)	D925E	probably benign	Het
Stat5a	A	T	11: 100,774,764 (GRCm39)	T758S	unknown	Het
Sulf1	A	G	1: 12,906,499 (GRCm39)	S514G	probably benign	Het
Tcp11l1	T	A	2: 104,536,853 (GRCm39)	N4I	probably damaging	Het
Tex2	A	T	11: 106,402,731 (GRCm39)	I1047K	unknown	Het
Tmem184b	A	G	15: 79,261,264 (GRCm39)	V114A	possibly damaging	Het
Trmt11	A	G	10: 30,467,027 (GRCm39)	V95A	probably benign	Het
Trp53bp2	A	G	1: 182,268,433 (GRCm39)	D169G	possibly damaging	Het
Ttc41	T	A	10: 86,549,599 (GRCm39)	N264K	possibly damaging	Het
Uba2	A	C	7: 33,853,987 (GRCm39)	S318R	probably benign	Het
Wapl	T	A	14: 34,451,139 (GRCm39)	N724K	probably damaging	Het
Wfdc9	T	A	2: 164,493,671 (GRCm39)	I5F	probably damaging	Het
Zan	C	T	5: 137,406,563 (GRCm39)	D3686N	unknown	Het
Zfp618	A	T	4: 63,012,708 (GRCm39)	Y140F	probably benign	Het
Zfp790	A	G	7: 29,527,593 (GRCm39)	T93A	probably benign	Het
Zfp979	A	C	4: 147,697,984 (GRCm39)	F242V	probably benign	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
R7393:Abi2	UTSW	1	60,473,541 (GRCm39)	missense	possibly damaging	0.92
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
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'- TGCTATACTATCCTGAGCATCTTG -3'
(R):5'- AGATGGCTGGATCTGTCTGC -3'

Sequencing Primer
(F):5'- CCTGAGCATCTTGAATTATTTGTTG -3'
(R):5'- CCATGCTAATACTCACCTGTGGGG -3'

Posted On

2021-10-11