Mutagenetix > Incidental Mutation

Incidental Mutation 'R5945:Abi1'

460514

Institutional Source

Beutler Lab

Gene Symbol

Abi1

Ensembl Gene

ENSMUSG00000058835

Gene Name

abl interactor 1

Synonyms

Ssh3bp1, E3B1

MMRRC Submission

044137-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.753) question?

Stock #

R5945 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

22830085-22930207 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 22929977 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Glycine at position 34 (E34G)

Ref Sequence

ENSEMBL: ENSMUSP00000090860 (fasta)

Gene Model

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

AlphaFold

Q8CBW3

Predicted Effect

probably damaging
Transcript: ENSMUST00000078977
AA Change: E34G

PolyPhen 2 Score 0.968 (Sensitivity: 0.77; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000077997
Gene: ENSMUSG00000058835
AA Change: E34G

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

possibly damaging
Transcript: ENSMUST00000091394
AA Change: E34G

PolyPhen 2 Score 0.830 (Sensitivity: 0.84; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000088957
Gene: ENSMUSG00000058835
AA Change: E34G

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 damaging
Transcript: ENSMUST00000093171
AA Change: E34G

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

SMART Domains

Protein: ENSMUSP00000090860
Gene: ENSMUSG00000058835
AA Change: E34G

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 damaging
Transcript: ENSMUST00000114544
AA Change: E34G

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

SMART Domains

Protein: ENSMUSP00000110191
Gene: ENSMUSG00000058835
AA Change: E34G

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 damaging
Transcript: ENSMUST00000123948
AA Change: E34G

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

SMART Domains

Protein: ENSMUSP00000118491
Gene: ENSMUSG00000058835
AA Change: E34G

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 damaging
Transcript: ENSMUST00000126112
AA Change: E34G

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

SMART Domains

Protein: ENSMUSP00000117335
Gene: ENSMUSG00000058835
AA Change: E34G

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: E34G

PolyPhen 2 Score 0.947 (Sensitivity: 0.79; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000116093
Gene: ENSMUSG00000058835
AA Change: E34G

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: E34G

PolyPhen 2 Score 0.362 (Sensitivity: 0.90; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000136846
Gene: ENSMUSG00000058835
AA Change: E34G

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 damaging
Transcript: ENSMUST00000140164
AA Change: E34G

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

SMART Domains

Protein: ENSMUSP00000120462
Gene: ENSMUSG00000058835
AA Change: E34G

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

probably damaging
Transcript: ENSMUST00000149719
AA Change: E34G

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

SMART Domains

Protein: ENSMUSP00000120621
Gene: ENSMUSG00000058835
AA Change: E34G

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 damaging
Transcript: ENSMUST00000153931
AA Change: E34G

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

SMART Domains

Protein: ENSMUSP00000120769
Gene: ENSMUSG00000058835
AA Change: E34G

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

Meta Mutation Damage Score

0.4438

Coding Region Coverage

1x: 99.9%
3x: 99.6%
10x: 97.9%
20x: 93.6%

Validation Efficiency

100% (101/101)

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: 83 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930488N24Rik	T	C	17: 14,326,601 (GRCm39)		noncoding transcript	Het
Abca13	C	T	11: 9,243,398 (GRCm39)	H1754Y	probably benign	Het
Apobec3	C	T	15: 79,782,047 (GRCm39)	T19I	probably damaging	Het
Arel1	C	A	12: 84,973,121 (GRCm39)	V559L	probably benign	Het
Arhgef10	T	C	8: 15,030,028 (GRCm39)		probably null	Het
Asb6	T	C	2: 30,718,215 (GRCm39)		probably benign	Het
Asxl2	T	C	12: 3,550,439 (GRCm39)	V727A	possibly damaging	Het
Atp13a5	C	A	16: 29,055,995 (GRCm39)	R1100L	probably benign	Het
Atp6v1a	A	G	16: 43,920,309 (GRCm39)	V429A	probably damaging	Het
Caml	A	G	13: 55,776,445 (GRCm39)	Y228C	probably damaging	Het
Ccdc14	A	G	16: 34,543,958 (GRCm39)	E772G	probably damaging	Het
Ccdc96	A	G	5: 36,643,194 (GRCm39)	E400G	probably damaging	Het
Ces1h	T	A	8: 94,090,254 (GRCm39)	E266V	probably benign	Het
Chd5	G	T	4: 152,464,408 (GRCm39)	Q1522H	probably benign	Het
CN725425	T	A	15: 91,129,980 (GRCm39)	I281N	possibly damaging	Het
Cngb3	A	T	4: 19,283,579 (GRCm39)	E62V	probably null	Het
Cops5	T	A	1: 10,108,235 (GRCm39)		probably benign	Het
Crhr2	T	A	6: 55,077,667 (GRCm39)	I232F	possibly damaging	Het
Cxcl3	C	T	5: 90,934,175 (GRCm39)		probably benign	Het
Ddx31	T	A	2: 28,749,902 (GRCm39)	I308N	probably damaging	Het
Efcab14	T	A	4: 115,613,664 (GRCm39)	V204D	probably damaging	Het
Emsy	T	C	7: 98,268,590 (GRCm39)	T484A	probably damaging	Het
Ep400	A	T	5: 110,830,732 (GRCm39)	I2257N	unknown	Het
Epb41l4a	T	A	18: 33,961,783 (GRCm39)	Q420L	possibly damaging	Het
Fat4	A	G	3: 39,037,355 (GRCm39)	D3669G	probably benign	Het
Fmnl2	C	A	2: 53,004,211 (GRCm39)	T607K	probably damaging	Het
Glod4	T	C	11: 76,125,297 (GRCm39)	Y135C	probably damaging	Het
Gm10912	A	G	2: 103,896,961 (GRCm39)	I33M	possibly damaging	Het
Gm5592	T	C	7: 40,865,036 (GRCm39)		probably benign	Het
Gria4	A	G	9: 4,456,122 (GRCm39)	L726P	probably damaging	Het
H2-M10.4	T	C	17: 36,771,518 (GRCm39)	E220G	probably benign	Het
Itga1	T	G	13: 115,103,126 (GRCm39)	N1102H	probably benign	Het
Itpk1	A	G	12: 102,554,812 (GRCm39)	I6T	probably damaging	Het
Kcnh4	T	C	11: 100,636,148 (GRCm39)	D833G	probably damaging	Het
Kdm1a	T	C	4: 136,296,012 (GRCm39)		probably null	Het
Kif24	G	A	4: 41,428,670 (GRCm39)	Q97*	probably null	Het
Klhl2	T	C	8: 65,202,762 (GRCm39)	I479V	probably benign	Het
Large1	T	C	8: 73,578,828 (GRCm39)	Y459C	probably damaging	Het
Lcn8	T	G	2: 25,545,509 (GRCm39)	L169R	probably damaging	Het
Loxl3	T	G	6: 83,014,492 (GRCm39)	S133R	probably damaging	Het
Lyzl4	A	G	9: 121,413,529 (GRCm39)	Y4H	unknown	Het
Marchf7	A	G	2: 60,071,331 (GRCm39)	K612E	probably damaging	Het
Mreg	C	T	1: 72,231,359 (GRCm39)	G33D	probably benign	Het
Ms4a6c	A	C	19: 11,457,863 (GRCm39)		probably benign	Het
Nrbf2	G	A	10: 67,103,299 (GRCm39)	S268F	possibly damaging	Het
Oog4	T	A	4: 143,164,293 (GRCm39)	I341F	probably benign	Het
Or4k5	A	G	14: 50,386,220 (GRCm39)	V37A	probably benign	Het
Or5h26	A	G	16: 58,988,482 (GRCm39)	L8P	probably benign	Het
Or5h27	C	T	16: 59,006,091 (GRCm39)	V252I	unknown	Het
Or5l14	A	T	2: 87,792,946 (GRCm39)	C97S	probably damaging	Het
Pcdhb5	G	A	18: 37,454,523 (GRCm39)	R301Q	probably benign	Het
Podn	T	C	4: 107,878,910 (GRCm39)	K174R	possibly damaging	Het
Pphln1	T	C	15: 93,353,413 (GRCm39)		probably null	Het
Ppp2r1a	C	G	17: 21,179,675 (GRCm39)	H112D	possibly damaging	Het
Prmt5	A	G	14: 54,752,344 (GRCm39)	F151L	possibly damaging	Het
Ptch1	A	T	13: 63,721,233 (GRCm39)		probably benign	Het
Rgl2	A	G	17: 34,151,012 (GRCm39)		probably null	Het
Ryr2	A	T	13: 11,675,008 (GRCm39)	I3373N	probably damaging	Het
Scap	A	G	9: 110,213,664 (GRCm39)	N1209S	probably benign	Het
Sin3b	T	C	8: 73,457,793 (GRCm39)	S170P	probably damaging	Het
Slc22a4	A	T	11: 53,886,854 (GRCm39)	I296N	probably damaging	Het
Slco1a8	T	A	6: 141,940,008 (GRCm39)	N145I	probably damaging	Het
Slco2a1	T	C	9: 102,923,989 (GRCm39)	S68P	probably damaging	Het
Snx8	A	G	5: 140,339,235 (GRCm39)	C161R	probably benign	Het
Spryd3	C	T	15: 102,026,630 (GRCm39)	C347Y	probably benign	Het
Srsf11	C	T	3: 157,728,981 (GRCm39)		probably benign	Het
Strn3	T	C	12: 51,676,279 (GRCm39)	T333A	probably benign	Het
Swt1	T	A	1: 151,286,921 (GRCm39)	E190D	probably benign	Het
Tchh	A	T	3: 93,352,644 (GRCm39)	I695F	unknown	Het
Tfap4	G	A	16: 4,363,493 (GRCm39)	S314L	possibly damaging	Het
Tigd3	G	T	19: 5,941,894 (GRCm39)	T412K	probably benign	Het
Tmem184b	T	A	15: 79,249,681 (GRCm39)		probably null	Het
Trpa1	T	C	1: 14,968,359 (GRCm39)	D469G	probably benign	Het
Tssk1	T	C	16: 17,712,565 (GRCm39)	F117L	probably damaging	Het
Tuba3b	T	A	6: 145,565,471 (GRCm39)	M313K	probably damaging	Het
Tubgcp6	T	C	15: 88,993,420 (GRCm39)		probably null	Het
Vav1	A	G	17: 57,608,870 (GRCm39)	K345E	possibly damaging	Het
Zdhhc4	G	A	5: 143,310,641 (GRCm39)	R64C	probably damaging	Het
Zfp280d	T	A	9: 72,269,614 (GRCm39)	L892*	probably null	Het
Zfp46	T	A	4: 136,014,528 (GRCm39)	M3K	probably damaging	Het
Zfp607b	C	A	7: 27,401,841 (GRCm39)	P99Q	probably benign	Het
Zfp647	G	A	15: 76,796,285 (GRCm39)	P125L	probably damaging	Het
Zfp990	T	A	4: 145,264,613 (GRCm39)	I537N	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
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
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'- TAGGCTTTAGGGAGCAACGC -3'
(R):5'- TTCTCGCGAGAAAGTGAGCC -3'

Sequencing Primer
(F):5'- CTGTGGGGAGCACAGGC -3'
(R):5'- GGAGGTGCAGTCCCACAATAC -3'

Posted On

2017-02-28