Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02633:Abitram'

301405

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Abitram

Ensembl Gene

ENSMUSG00000038827

Gene Name

actin binding transcription modulator

Synonyms

BC026590, simiate, Fam206a

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

IGL02633

Quality Score

Status

Chromosome

Chromosomal Location

56802345-56809601 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 56806131 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 181 (V181A)

Ref Sequence

ENSEMBL: ENSMUSP00000047275 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000030140] [ENSMUST00000045142] [ENSMUST00000045368] [ENSMUST00000131520] [ENSMUST00000147763]

AlphaFold

Q80ZQ9

Predicted Effect

probably benign
Transcript: ENSMUST00000030140

SMART Domains

Protein: ENSMUSP00000030140
Gene: ENSMUSG00000028431

Domain	Start	End	E-Value	Type
Pfam:IKI3	1	955	N/A	PFAM
low complexity region	1186	1205	N/A	INTRINSIC
low complexity region	1210	1225	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000045142

SMART Domains

Protein: ENSMUSP00000036487
Gene: ENSMUSG00000038816

Domain	Start	End	E-Value	Type
low complexity region	2	22	N/A	INTRINSIC
Pfam:Vinculin	30	309	7e-39	PFAM
Pfam:Vinculin	302	526	1.7e-12	PFAM
Pfam:Vinculin	531	683	5.3e-12	PFAM

Predicted Effect

possibly damaging
Transcript: ENSMUST00000045368
AA Change: V181A

PolyPhen 2 Score 0.468 (Sensitivity: 0.89; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000047275
Gene: ENSMUSG00000038827
AA Change: V181A

Domain	Start	End	E-Value	Type
Pfam:GCV_H	117	185	5e-8	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000131520

Predicted Effect

probably benign
Transcript: ENSMUST00000147763

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000152638

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 37 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aff4	T	C	11: 53,300,198 (GRCm39)		probably benign	Het
Ap1g2	T	C	14: 55,338,104 (GRCm39)		probably null	Het
Aspn	A	T	13: 49,705,363 (GRCm39)	Y75F	possibly damaging	Het
Atm	G	A	9: 53,359,453 (GRCm39)	T2783I	probably damaging	Het
Cacnb1	A	T	11: 97,913,199 (GRCm39)	I18N	probably damaging	Het
Casr	T	C	16: 36,336,017 (GRCm39)	I97M	probably damaging	Het
Cnga2	T	A	X: 71,048,655 (GRCm39)		probably benign	Het
Coasy	T	A	11: 100,976,147 (GRCm39)	L425Q	probably damaging	Het
Cps1	A	G	1: 67,162,396 (GRCm39)	T25A	probably benign	Het
Dnah1	T	C	14: 31,006,772 (GRCm39)	Y2181C	probably benign	Het
Efna3	A	C	3: 89,222,749 (GRCm39)	S230A	probably damaging	Het
Eng	A	G	2: 32,563,286 (GRCm39)	I281V	probably damaging	Het
Erlec1	T	A	11: 30,898,430 (GRCm39)	R14*	probably null	Het
Gbp9	C	T	5: 105,231,431 (GRCm39)		probably benign	Het
Gzmg	T	C	14: 56,394,160 (GRCm39)	M245V	probably damaging	Het
Kdm5a	A	G	6: 120,341,680 (GRCm39)	I36V	probably damaging	Het
Krt87	A	G	15: 101,389,095 (GRCm39)	V79A	probably damaging	Het
Limd1	A	T	9: 123,308,987 (GRCm39)		probably benign	Het
Lmo4	T	C	3: 143,899,683 (GRCm39)	S155G	probably benign	Het
Mrpl44	G	A	1: 79,753,862 (GRCm39)	V5I	probably benign	Het
Mrpl49	T	C	19: 6,104,931 (GRCm39)	T146A	possibly damaging	Het
Mrpl58	T	C	11: 115,301,457 (GRCm39)		probably benign	Het
Nab1	C	T	1: 52,529,292 (GRCm39)	V202M	probably damaging	Het
Nav3	T	A	10: 109,527,997 (GRCm39)	M2229L	probably benign	Het
Notch2	C	T	3: 98,024,013 (GRCm39)		probably benign	Het
Nub1	A	G	5: 24,897,931 (GRCm39)	I106V	probably benign	Het
Prom1	A	T	5: 44,172,117 (GRCm39)	S595T	probably benign	Het
Rbfox1	T	A	16: 7,110,078 (GRCm39)	S165R	probably damaging	Het
Sipa1l2	G	A	8: 126,174,507 (GRCm39)	T1257I	probably damaging	Het
Smarcc2	T	C	10: 128,305,556 (GRCm39)	S327P	probably damaging	Het
Tdpoz1	T	C	3: 93,578,056 (GRCm39)	M243V	probably benign	Het
Ttn	G	T	2: 76,549,289 (GRCm39)	T23469K	probably damaging	Het
Ube2u	T	C	4: 100,339,971 (GRCm39)		probably benign	Het
Umodl1	T	C	17: 31,208,462 (GRCm39)	Y836H	probably damaging	Het
Vmn2r45	A	G	7: 8,488,728 (GRCm39)	Y101H	probably benign	Het
Vps13a	T	A	19: 16,697,772 (GRCm39)	Q781L	possibly damaging	Het
Vwce	G	A	19: 10,625,858 (GRCm39)	V457M	probably damaging	Het

Other mutations in Abitram

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
R2025:Abitram	UTSW	4	56,805,916 (GRCm39)	missense	probably damaging	1.00
R2218:Abitram	UTSW	4	56,802,693 (GRCm39)	missense	probably damaging	1.00
R7426:Abitram	UTSW	4	56,804,230 (GRCm39)	missense	probably null	0.02
R7655:Abitram	UTSW	4	56,804,218 (GRCm39)	missense	probably benign	0.02
R7656:Abitram	UTSW	4	56,804,218 (GRCm39)	missense	probably benign	0.02
R9276:Abitram	UTSW	4	56,806,141 (GRCm39)	missense	probably benign	0.07

Posted On

2015-04-16