Mutagenetix > Incidental Mutation

Incidental Mutation 'R1265:Abi1'

151138

Institutional Source

Beutler Lab

Gene Symbol

Abi1

Ensembl Gene

ENSMUSG00000058835

Gene Name

abl interactor 1

Synonyms

Ssh3bp1, E3B1

MMRRC Submission

039332-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.753) question?

Stock #

R1265 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

22830085-22930207 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 22836734 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glycine at position 316 (D316G)

Ref Sequence

ENSEMBL: ENSMUSP00000116093 (fasta)

Gene Model

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

AlphaFold

Q8CBW3

Predicted Effect

probably benign
Transcript: ENSMUST00000078977
AA Change: D346G

PolyPhen 2 Score 0.149 (Sensitivity: 0.92; Specificity: 0.87)

SMART Domains

Protein: ENSMUSP00000077997
Gene: ENSMUSG00000058835
AA Change: D346G

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: D374G

PolyPhen 2 Score 0.099 (Sensitivity: 0.93; Specificity: 0.85)

SMART Domains

Protein: ENSMUSP00000088957
Gene: ENSMUSG00000058835
AA Change: D374G

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

possibly damaging
Transcript: ENSMUST00000093171
AA Change: D345G

PolyPhen 2 Score 0.615 (Sensitivity: 0.87; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000090860
Gene: ENSMUSG00000058835
AA Change: D345G

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

probably benign
Transcript: ENSMUST00000114544
AA Change: D282G

PolyPhen 2 Score 0.066 (Sensitivity: 0.94; Specificity: 0.84)

SMART Domains

Protein: ENSMUSP00000110191
Gene: ENSMUSG00000058835
AA Change: D282G

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: D375G

PolyPhen 2 Score 0.195 (Sensitivity: 0.92; Specificity: 0.87)

SMART Domains

Protein: ENSMUSP00000118491
Gene: ENSMUSG00000058835
AA Change: D375G

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

probably benign
Transcript: ENSMUST00000126112
AA Change: D370G

PolyPhen 2 Score 0.426 (Sensitivity: 0.89; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000117335
Gene: ENSMUSG00000058835
AA Change: D370G

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

noncoding transcript
Transcript: ENSMUST00000135308

Predicted Effect

possibly damaging
Transcript: ENSMUST00000139038
AA Change: D316G

PolyPhen 2 Score 0.845 (Sensitivity: 0.83; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000116093
Gene: ENSMUSG00000058835
AA Change: D316G

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

probably benign
Transcript: ENSMUST00000178908
AA Change: D375G

PolyPhen 2 Score 0.055 (Sensitivity: 0.94; Specificity: 0.84)

SMART Domains

Protein: ENSMUSP00000136846
Gene: ENSMUSG00000058835
AA Change: D375G

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

Predicted Effect

probably benign
Transcript: ENSMUST00000153931
AA Change: D287G

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000120769
Gene: ENSMUSG00000058835
AA Change: D287G

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

possibly damaging
Transcript: ENSMUST00000149719
AA Change: D340G

PolyPhen 2 Score 0.733 (Sensitivity: 0.86; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000120621
Gene: ENSMUSG00000058835
AA Change: D340G

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: ENSMUST00000140164
AA Change: D369G

PolyPhen 2 Score 0.426 (Sensitivity: 0.89; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000120462
Gene: ENSMUSG00000058835
AA Change: D369G

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

noncoding transcript
Transcript: ENSMUST00000156344

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000154162

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000148294

Coding Region Coverage

1x: 99.0%
3x: 98.2%
10x: 95.9%
20x: 91.3%

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: 22 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aebp1	T	C	11: 5,821,740 (GRCm39)	V713A	probably damaging	Het
Alg2	T	C	4: 47,474,289 (GRCm39)		probably benign	Het
Ank1	T	A	8: 23,607,053 (GRCm39)	V1273E	possibly damaging	Het
Cntnap5a	A	G	1: 116,356,248 (GRCm39)	T760A	possibly damaging	Het
Fam120a	G	T	13: 49,039,219 (GRCm39)	A979E	possibly damaging	Het
Igf2r	A	T	17: 12,913,011 (GRCm39)	V1779E	probably damaging	Het
Lrp1b	C	T	2: 41,366,666 (GRCm39)	V537M	probably damaging	Het
Ltbp1	A	G	17: 75,532,280 (GRCm39)	Q118R	possibly damaging	Het
Ly6h	T	A	15: 75,438,032 (GRCm39)	M27L	probably benign	Het
Nphs2	A	G	1: 156,146,317 (GRCm39)	T173A	probably damaging	Het
Nsd3	T	C	8: 26,172,578 (GRCm39)	V779A	probably benign	Het
Or3a1d	T	C	11: 74,237,766 (GRCm39)	I95V	probably benign	Het
Pdzd7	T	C	19: 45,029,124 (GRCm39)	D82G	possibly damaging	Het
Pkp2	A	G	16: 16,043,168 (GRCm39)	N76S	probably benign	Het
Ppip5k2	A	G	1: 97,647,625 (GRCm39)	S976P	probably benign	Het
Slc38a3	A	G	9: 107,529,185 (GRCm39)	F489S	probably damaging	Het
Sox11	T	C	12: 27,391,735 (GRCm39)	T225A	probably benign	Het
Tbx10	T	C	19: 4,046,625 (GRCm39)	F35S	probably damaging	Het
Tcf4	T	C	18: 69,776,003 (GRCm39)	M40T	possibly damaging	Het
Tenm2	C	T	11: 35,954,004 (GRCm39)	G1236R	possibly damaging	Het
Thsd7a	T	C	6: 12,317,418 (GRCm39)	N1630S	probably damaging	Het
Urb2	A	G	8: 124,751,892 (GRCm39)	D75G	probably damaging	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
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
R7565:Abi1	UTSW	2	22,836,596 (GRCm39)	missense	probably benign	0.00
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'- AGAGCTACCACCTTGACTGGTAAGAC -3'
(R):5'- TATTCCATGACAGAGTCCCCTCGG -3'

Sequencing Primer
(F):5'- CCTTGACTGGTAAGACAGTTACAG -3'
(R):5'- CAAGGGGAGCATTTGTTTTCAC -3'

Posted On

2014-01-29