Mutagenetix > Incidental Mutation

Incidental Mutation 'R7565:Abi1'

585350

Institutional Source

Beutler Lab

Gene Symbol

Abi1

Ensembl Gene

ENSMUSG00000058835

Gene Name

abl interactor 1

Synonyms

Ssh3bp1, E3B1

MMRRC Submission

045710-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.753) question?

Stock #

R7565 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

22830085-22930207 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 22836596 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Asparagine at position 421 (I421N)

Ref Sequence

ENSEMBL: ENSMUSP00000118491 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000078977] [ENSMUST00000091394] [ENSMUST00000093171] [ENSMUST00000114544] [ENSMUST00000123948] [ENSMUST00000126112] [ENSMUST00000139038] [ENSMUST00000140164] [ENSMUST00000149719] [ENSMUST00000153931] [ENSMUST00000178908]

AlphaFold

Q8CBW3

Predicted Effect

possibly damaging
Transcript: ENSMUST00000078977
AA Change: I392N

PolyPhen 2 Score 0.592 (Sensitivity: 0.87; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000077997
Gene: ENSMUSG00000058835
AA Change: I392N

Domain	Start	End	E-Value	Type
Pfam:Abi_HHR	93	171	3.7e-38	PFAM
low complexity region	176	185	N/A	INTRINSIC
low complexity region	240	258	N/A	INTRINSIC
low complexity region	264	282	N/A	INTRINSIC
low complexity region	296	303	N/A	INTRINSIC
low complexity region	337	364	N/A	INTRINSIC
SH3	393	448	2.38e-23	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000091394
AA Change: I420N

PolyPhen 2 Score 0.107 (Sensitivity: 0.93; Specificity: 0.86)

SMART Domains

Protein: ENSMUSP00000088957
Gene: ENSMUSG00000058835
AA Change: I420N

Domain	Start	End	E-Value	Type
Pfam:Abi_HHR	93	171	4.1e-38	PFAM
low complexity region	176	185	N/A	INTRINSIC
low complexity region	240	258	N/A	INTRINSIC
low complexity region	264	281	N/A	INTRINSIC
low complexity region	295	302	N/A	INTRINSIC
low complexity region	336	351	N/A	INTRINSIC
low complexity region	365	392	N/A	INTRINSIC
SH3	421	476	2.38e-23	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000093171
AA Change: I391N

PolyPhen 2 Score 0.093 (Sensitivity: 0.93; Specificity: 0.85)

SMART Domains

Protein: ENSMUSP00000090860
Gene: ENSMUSG00000058835
AA Change: I391N

Domain	Start	End	E-Value	Type
Pfam:Abi_HHR	93	171	3.7e-38	PFAM
low complexity region	176	185	N/A	INTRINSIC
low complexity region	240	258	N/A	INTRINSIC
low complexity region	264	281	N/A	INTRINSIC
low complexity region	295	302	N/A	INTRINSIC
low complexity region	336	363	N/A	INTRINSIC
SH3	392	447	2.38e-23	SMART

Predicted Effect

possibly damaging
Transcript: ENSMUST00000114544
AA Change: I328N

PolyPhen 2 Score 0.548 (Sensitivity: 0.88; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000110191
Gene: ENSMUSG00000058835
AA Change: I328N

Domain	Start	End	E-Value	Type
Pfam:Abi_HHR	93	170	4.4e-37	PFAM
low complexity region	171	180	N/A	INTRINSIC
low complexity region	235	253	N/A	INTRINSIC
low complexity region	268	300	N/A	INTRINSIC
SH3	329	384	2.38e-23	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000123948
AA Change: I421N

PolyPhen 2 Score 0.004 (Sensitivity: 0.98; Specificity: 0.59)

SMART Domains

Protein: ENSMUSP00000118491
Gene: ENSMUSG00000058835
AA Change: I421N

Domain	Start	End	E-Value	Type
Pfam:Abi_HHR	93	170	5.1e-39	PFAM
low complexity region	176	185	N/A	INTRINSIC
low complexity region	240	258	N/A	INTRINSIC
low complexity region	264	282	N/A	INTRINSIC
low complexity region	296	303	N/A	INTRINSIC
low complexity region	337	352	N/A	INTRINSIC
low complexity region	366	393	N/A	INTRINSIC
SH3	422	477	2.38e-23	SMART

Predicted Effect

possibly damaging
Transcript: ENSMUST00000126112
AA Change: I416N

PolyPhen 2 Score 0.817 (Sensitivity: 0.84; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000117335
Gene: ENSMUSG00000058835
AA Change: I416N

Domain	Start	End	E-Value	Type
Pfam:Abi_HHR	93	170	8.6e-37	PFAM
low complexity region	171	180	N/A	INTRINSIC
low complexity region	235	253	N/A	INTRINSIC
low complexity region	259	277	N/A	INTRINSIC
low complexity region	291	298	N/A	INTRINSIC
low complexity region	332	347	N/A	INTRINSIC
low complexity region	361	388	N/A	INTRINSIC
SH3	417	472	2.38e-23	SMART

Predicted Effect

possibly damaging
Transcript: ENSMUST00000139038
AA Change: I362N

PolyPhen 2 Score 0.734 (Sensitivity: 0.85; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000116093
Gene: ENSMUSG00000058835
AA Change: I362N

Domain	Start	End	E-Value	Type
Pfam:Abi_HHR	93	171	3.4e-38	PFAM
low complexity region	176	185	N/A	INTRINSIC
low complexity region	240	258	N/A	INTRINSIC
low complexity region	264	293	N/A	INTRINSIC
low complexity region	307	334	N/A	INTRINSIC
SH3	363	418	2.38e-23	SMART

Predicted Effect

possibly damaging
Transcript: ENSMUST00000140164
AA Change: I415N

PolyPhen 2 Score 0.817 (Sensitivity: 0.84; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000120462
Gene: ENSMUSG00000058835
AA Change: I415N

Domain	Start	End	E-Value	Type
Pfam:Abi_HHR	93	170	8.6e-37	PFAM
low complexity region	171	180	N/A	INTRINSIC
low complexity region	235	253	N/A	INTRINSIC
low complexity region	259	276	N/A	INTRINSIC
low complexity region	290	297	N/A	INTRINSIC
low complexity region	331	346	N/A	INTRINSIC
low complexity region	360	387	N/A	INTRINSIC
SH3	416	471	2.38e-23	SMART

Predicted Effect

possibly damaging
Transcript: ENSMUST00000149719
AA Change: I386N

PolyPhen 2 Score 0.578 (Sensitivity: 0.88; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000120621
Gene: ENSMUSG00000058835
AA Change: I386N

Domain	Start	End	E-Value	Type
Pfam:Abi_HHR	93	170	7.8e-37	PFAM
low complexity region	171	180	N/A	INTRINSIC
low complexity region	235	253	N/A	INTRINSIC
low complexity region	259	276	N/A	INTRINSIC
low complexity region	290	297	N/A	INTRINSIC
low complexity region	331	358	N/A	INTRINSIC
SH3	387	442	2.38e-23	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000153931
AA Change: I333N

PolyPhen 2 Score 0.082 (Sensitivity: 0.93; Specificity: 0.85)

SMART Domains

Protein: ENSMUSP00000120769
Gene: ENSMUSG00000058835
AA Change: I333N

Domain	Start	End	E-Value	Type
Pfam:Abi_HHR	93	171	3e-38	PFAM
low complexity region	176	185	N/A	INTRINSIC
low complexity region	240	258	N/A	INTRINSIC
low complexity region	273	305	N/A	INTRINSIC
SH3	334	389	2.38e-23	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000178908
AA Change: I421N

PolyPhen 2 Score 0.298 (Sensitivity: 0.91; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000136846
Gene: ENSMUSG00000058835
AA Change: I421N

Domain	Start	End	E-Value	Type
Pfam:Abi_HHR	93	171	3.9e-37	PFAM
low complexity region	176	185	N/A	INTRINSIC
low complexity region	240	258	N/A	INTRINSIC
low complexity region	264	282	N/A	INTRINSIC
low complexity region	296	303	N/A	INTRINSIC
low complexity region	337	352	N/A	INTRINSIC
low complexity region	366	393	N/A	INTRINSIC
SH3	422	477	2.38e-23	SMART

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.6%
20x: 98.8%

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the Abelson-interactor family of adaptor proteins. These proteins facilitate signal transduction as components of several multiprotein complexes, and regulate actin polymerization and cytoskeletal remodeling through interactions with Abelson tyrosine kinases. The encoded protein plays a role in macropinocytosis as a component of the WAVE2 complex, and also forms a complex with EPS8 and SOS1 that mediates signal transduction from Ras to Rac. This gene may play a role in the progression of several malignancies including melanoma, colon cancer and breast cancer, and a t(10;11) chromosomal translocation involving this gene and the MLL gene has been associated with acute myeloid leukemia. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene, and a pseudogene of this gene is located on the long arm of chromosome 14. [provided by RefSeq, Sep 2011]
PHENOTYPE: Mice homozygous for a knock-out allele exhibit background sensitive embryonic lethality prior during organogenesis associated with about abnormal vasculogenesis and angiogenesis. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 75 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
9830107B12Rik	T	A	17: 48,452,750 (GRCm39)	Y63F	possibly damaging	Het
Ahnak	A	G	19: 8,993,520 (GRCm39)	I4935V	probably benign	Het
Atg12	A	C	18: 46,867,551 (GRCm39)	V131G	probably damaging	Het
BC028528	CTCACTGGTTCTGTGGTCACTGGTTCTGTGGTCACTGGTTCTGTGGTCACTGGTT	CTCACTGGTTCTGTGGTCACTGGTTCTGTGGTCACTGGTTCTGTGGTCACTGGTTCTGTGGTCACTGGTT	3: 95,795,448 (GRCm39)		probably benign	Het
BC028528	TTCTGTGGTCACTGGTTCTGTGGTCACTGGTTCTGTGGTCACTGG	TTCTGTGGTCACTGGGTCTGTGGTCACTGGTTCTGTGGTCACTGGTTCTGTGGTCACTGG	3: 95,795,456 (GRCm39)		probably benign	Het
BC028528	CACTGGTTCTGTGGTCACTGGTTCTGTGGTCACTGGTTCTGTGGT	CACTGGTTCTGTGGTGACTGGTTCTGTGGTCACTGGTTCTGTGGTCACTGGTTCTGTGGT	3: 95,795,450 (GRCm39)		probably benign	Het
Bcl3	C	T	7: 19,546,419 (GRCm39)	V139I	probably damaging	Het
Bloc1s4	T	A	5: 36,905,689 (GRCm39)	M101L	probably benign	Het
Bmp6	C	T	13: 38,530,233 (GRCm39)	Q109*	probably null	Het
Cabyr	C	T	18: 12,877,656 (GRCm39)	T28I	possibly damaging	Het
Catsper3	T	C	13: 55,932,538 (GRCm39)	S22P	probably benign	Het
Catsperg2	A	T	7: 29,412,406 (GRCm39)	C395S	probably null	Het
Cd101	T	C	3: 100,926,108 (GRCm39)	T208A	probably benign	Het
Chaf1a	A	G	17: 56,371,148 (GRCm39)	S678G	probably benign	Het
Chrna2	A	C	14: 66,388,484 (GRCm39)	I500L	probably benign	Het
Cln6	C	T	9: 62,758,039 (GRCm39)	T266I	possibly damaging	Het
Col17a1	T	A	19: 47,659,963 (GRCm39)	T330S	possibly damaging	Het
Cyp2d40	A	G	15: 82,644,975 (GRCm39)	V225A	unknown	Het
Dnah10	A	G	5: 124,876,095 (GRCm39)	N2645D	probably damaging	Het
Dph5	T	A	3: 115,686,446 (GRCm39)	V74D	probably benign	Het
Dthd1	A	T	5: 63,000,435 (GRCm39)	I586L	probably damaging	Het
Elane	G	A	10: 79,722,879 (GRCm39)	R95Q	probably benign	Het
Fbxw17	A	G	13: 50,587,398 (GRCm39)	T453A	probably damaging	Het
Fpr3	C	A	17: 18,191,227 (GRCm39)	T166K	probably damaging	Het
Fryl	A	G	5: 73,191,063 (GRCm39)	I2724T	probably benign	Het
Fsip2	C	T	2: 82,779,856 (GRCm39)	R201C	probably damaging	Het
Gm14496	A	G	2: 181,642,630 (GRCm39)	N767S	probably damaging	Het
Gm14496	T	A	2: 181,633,050 (GRCm39)	F11Y	possibly damaging	Het
Hyal4	T	A	6: 24,765,933 (GRCm39)	M429K	possibly damaging	Het
Itgad	A	T	7: 127,782,187 (GRCm39)	T208S	probably damaging	Het
Itpr3	T	G	17: 27,329,862 (GRCm39)	L1552R	probably benign	Het
Kcp	C	T	6: 29,499,186 (GRCm39)	C292Y	probably damaging	Het
Kdr	T	C	5: 76,109,503 (GRCm39)	K958R	probably damaging	Het
Klhl22	T	A	16: 17,607,148 (GRCm39)	W485R	probably damaging	Het
Ldhb	T	A	6: 142,438,245 (GRCm39)	I271F	possibly damaging	Het
Lmo7	A	G	14: 102,122,737 (GRCm39)	R309G	probably damaging	Het
Marco	C	A	1: 120,402,395 (GRCm39)	C517F	probably damaging	Het
Mpdz	G	A	4: 81,221,891 (GRCm39)	T1423I	probably benign	Het
Ncoa2	T	C	1: 13,218,600 (GRCm39)	S1410G	probably benign	Het
Ncor1	T	C	11: 62,292,091 (GRCm39)	N283S	probably damaging	Het
Nlrp14	T	A	7: 106,781,094 (GRCm39)	L97*	probably null	Het
Olfm3	T	G	3: 114,916,393 (GRCm39)	S442A	probably damaging	Het
Or10p1	A	G	10: 129,444,029 (GRCm39)	V107A	possibly damaging	Het
Or14j10	T	C	17: 37,935,392 (GRCm39)	I45V	probably damaging	Het
Or2ag12	T	C	7: 106,277,333 (GRCm39)	Y120C	probably damaging	Het
Or5a1	T	A	19: 12,097,375 (GRCm39)	S234C	probably benign	Het
Or5an10	T	C	19: 12,276,212 (GRCm39)	T95A	probably benign	Het
Pank4	G	A	4: 155,065,007 (GRCm39)	V769I	probably benign	Het
Pdgfrb	G	A	18: 61,216,336 (GRCm39)	D1065N	probably damaging	Het
Ppp1r12a	G	A	10: 108,104,501 (GRCm39)	S911N	probably benign	Het
Prdx6b	A	G	2: 80,123,334 (GRCm39)	T48A	probably damaging	Het
Pttg1ip	A	G	10: 77,432,870 (GRCm39)	K166E	probably damaging	Het
Rabgap1l	T	C	1: 160,078,987 (GRCm39)	D9G		Het
Rpl13a	C	T	7: 44,776,466 (GRCm39)	G69S	probably benign	Het
Rps6ka5	T	A	12: 100,582,342 (GRCm39)	I177F	probably damaging	Het
Rttn	C	A	18: 89,078,603 (GRCm39)	A1343E	probably damaging	Het
Ryr2	C	T	13: 11,575,539 (GRCm39)	V4820I	possibly damaging	Het
Slc12a7	A	G	13: 73,938,891 (GRCm39)	I223V	possibly damaging	Het
Slc9a3	G	A	13: 74,305,813 (GRCm39)	V277M	probably damaging	Het
Spata13	A	T	14: 60,989,298 (GRCm39)	Y988F	probably damaging	Het
Spata31e2	A	T	1: 26,724,351 (GRCm39)	N276K	probably benign	Het
Spo11	A	G	2: 172,833,864 (GRCm39)	I329V	possibly damaging	Het
Tcp11l2	A	T	10: 84,422,998 (GRCm39)	D63V	probably damaging	Het
Tdrd3	G	A	14: 87,744,029 (GRCm39)	W659*	probably null	Het
Thnsl2	T	C	6: 71,118,311 (GRCm39)	D39G	probably benign	Het
Thumpd1	A	T	7: 119,316,085 (GRCm39)	L288*	probably null	Het
Tram1l1	T	C	3: 124,115,556 (GRCm39)	Y239H	probably damaging	Het
Usp38	T	A	8: 81,708,601 (GRCm39)	E992D	probably damaging	Het
Usp45	A	G	4: 21,784,790 (GRCm39)	T159A	probably benign	Het
Vmn1r218	C	T	13: 23,320,830 (GRCm39)	T59I	probably benign	Het
Vmn2r70	T	C	7: 85,214,499 (GRCm39)	I218V	probably benign	Het
Xpr1	T	C	1: 155,183,488 (GRCm39)	I461V	probably benign	Het
Ydjc	T	C	16: 16,964,869 (GRCm39)	L8P	probably damaging	Het
Yme1l1	A	T	2: 23,050,232 (GRCm39)	N21I	possibly damaging	Het
Zfhx4	T	C	3: 5,455,426 (GRCm39)	L1140P	probably benign	Het

Other mutations in Abi1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00904:Abi1	APN	2	22,831,942 (GRCm39)	missense	possibly damaging	0.71
IGL01694:Abi1	APN	2	22,850,725 (GRCm39)	missense	probably damaging	1.00
IGL01809:Abi1	APN	2	22,836,729 (GRCm39)	missense	probably benign	0.00
IGL02189:Abi1	APN	2	22,930,076 (GRCm39)	start codon destroyed	probably null	1.00
IGL03126:Abi1	APN	2	22,843,479 (GRCm39)	missense	probably benign	0.12
IGL03213:Abi1	APN	2	22,831,971 (GRCm39)	missense	probably damaging	1.00
IGL03325:Abi1	APN	2	22,861,240 (GRCm39)	missense	probably damaging	1.00
R0421:Abi1	UTSW	2	22,850,839 (GRCm39)	missense	probably damaging	1.00
R0505:Abi1	UTSW	2	22,852,516 (GRCm39)	splice site	probably benign
R1265:Abi1	UTSW	2	22,836,734 (GRCm39)	missense	possibly damaging	0.85
R1851:Abi1	UTSW	2	22,840,276 (GRCm39)	missense	possibly damaging	0.78
R2975:Abi1	UTSW	2	22,847,099 (GRCm39)	missense	probably damaging	0.99
R3416:Abi1	UTSW	2	22,930,014 (GRCm39)	missense	probably damaging	1.00
R5000:Abi1	UTSW	2	22,840,211 (GRCm39)	missense	probably damaging	1.00
R5277:Abi1	UTSW	2	22,884,660 (GRCm39)	missense	probably damaging	1.00
R5945:Abi1	UTSW	2	22,929,977 (GRCm39)	missense	probably damaging	1.00
R6785:Abi1	UTSW	2	22,843,479 (GRCm39)	missense	probably benign	0.12
R7000:Abi1	UTSW	2	22,832,053 (GRCm39)	missense	probably damaging	1.00
R7249:Abi1	UTSW	2	22,847,101 (GRCm39)	missense	possibly damaging	0.82
R8052:Abi1	UTSW	2	22,843,555 (GRCm39)	missense	probably benign	0.04
R8252:Abi1	UTSW	2	22,861,284 (GRCm39)	splice site	probably benign
R8891:Abi1	UTSW	2	22,861,262 (GRCm39)	missense	probably damaging	0.96
R9214:Abi1	UTSW	2	22,831,989 (GRCm39)	nonsense	probably null
X0026:Abi1	UTSW	2	22,861,166 (GRCm39)	nonsense	probably null

Predicted Primers

PCR Primer
(F):5'- GGCAAGCAAGTTAATCTGAAGC -3'
(R):5'- CTGAATCCTTTTAGTTGCTGATAGC -3'

Sequencing Primer
(F):5'- GCATACATGGTTTGAAAAGATGC -3'
(R):5'- AGTTGCTGATAGCCCAACTC -3'

Posted On

2019-10-17