Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01678:Angel1'

103715

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Angel1

Ensembl Gene

ENSMUSG00000021257

Gene Name

angel homolog 1

Synonyms

1110030H02Rik

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.185) question?

Stock #

IGL01678

Quality Score

Status

Chromosome

Chromosomal Location

86747276-86773234 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 86763800 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Glycine at position 500 (E500G)

Ref Sequence

ENSEMBL: ENSMUSP00000021682 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000021682]

AlphaFold

Q8VCU0

Predicted Effect

probably benign
Transcript: ENSMUST00000021682
AA Change: E500G

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

SMART Domains

Protein: ENSMUSP00000021682
Gene: ENSMUSG00000021257
AA Change: E500G

Domain	Start	End	E-Value	Type
signal peptide	1	16	N/A	INTRINSIC
Pfam:Exo_endo_phos	245	653	4.1e-40	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000163388

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000165332

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000165702

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000171293

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 34 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aadacl4fm5	A	T	4: 144,504,443 (GRCm39)	M236K	probably benign	Het
Abcc1	T	A	16: 14,222,883 (GRCm39)	M186K	probably null	Het
Adamts3	T	C	5: 89,855,715 (GRCm39)	N385S	probably damaging	Het
Adamts6	T	C	13: 104,450,196 (GRCm39)	V299A	probably damaging	Het
Car9	T	C	4: 43,512,941 (GRCm39)		probably benign	Het
Colec11	A	G	12: 28,644,867 (GRCm39)	F209S	probably damaging	Het
Dnaaf10	T	C	11: 17,182,790 (GRCm39)	V317A	probably benign	Het
Dock10	A	G	1: 80,521,069 (GRCm39)	Y1179H	probably damaging	Het
Ece1	T	A	4: 137,690,044 (GRCm39)	W697R	probably damaging	Het
Eml2	T	A	7: 18,920,047 (GRCm39)	M117K	probably benign	Het
Flii	G	T	11: 60,607,672 (GRCm39)		probably benign	Het
Frmpd1	T	A	4: 45,243,717 (GRCm39)	D63E	probably damaging	Het
Ftmt	A	T	18: 52,465,206 (GRCm39)	H174L	probably damaging	Het
Gpr37l1	A	G	1: 135,094,791 (GRCm39)	V151A	probably damaging	Het
Inppl1	T	C	7: 101,481,803 (GRCm39)	T180A	probably benign	Het
Klhdc4	T	C	8: 122,523,677 (GRCm39)	D513G	possibly damaging	Het
Klrb1a	A	G	6: 128,595,411 (GRCm39)		probably benign	Het
Nit1	A	G	1: 171,170,262 (GRCm39)	V270A	probably damaging	Het
Or6c5	A	C	10: 129,074,537 (GRCm39)	D173A	possibly damaging	Het
Phox2b	T	A	5: 67,256,262 (GRCm39)	Y8F	probably damaging	Het
Psg20	T	A	7: 18,414,795 (GRCm39)	S364C	probably damaging	Het
Rab38	T	A	7: 88,079,740 (GRCm39)	V44E	probably damaging	Het
Rapgef4	T	C	2: 72,072,569 (GRCm39)		probably benign	Het
Ror1	C	T	4: 100,283,165 (GRCm39)	P410L	possibly damaging	Het
Rptn	A	G	3: 93,304,118 (GRCm39)	N484D	probably benign	Het
Sirpb1a	G	T	3: 15,476,370 (GRCm39)	S142R	probably damaging	Het
Smox	G	A	2: 131,353,979 (GRCm39)	R17H	possibly damaging	Het
Top6bl	T	A	19: 4,722,193 (GRCm39)	I76L	possibly damaging	Het
Trpm7	A	T	2: 126,658,719 (GRCm39)	C1146S	probably damaging	Het
Upf3a	C	T	8: 13,841,930 (GRCm39)	A155V	probably benign	Het
Vmn1r212	A	T	13: 23,068,081 (GRCm39)	V84D	probably damaging	Het
Vmn2r40	T	C	7: 8,923,105 (GRCm39)	N419D	probably damaging	Het
Zfp143	C	A	7: 109,679,558 (GRCm39)		probably benign	Het
Zmat4	T	A	8: 24,392,064 (GRCm39)	C7S	probably damaging	Het

Other mutations in Angel1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02712:Angel1	APN	12	86,769,613 (GRCm39)	splice site	probably benign
IGL02738:Angel1	APN	12	86,752,060 (GRCm39)	missense	probably benign	0.10
R0521:Angel1	UTSW	12	86,769,681 (GRCm39)	missense	probably benign	0.01
R0626:Angel1	UTSW	12	86,764,487 (GRCm39)	critical splice donor site	probably null
R1929:Angel1	UTSW	12	86,749,093 (GRCm39)	missense	probably damaging	1.00
R4291:Angel1	UTSW	12	86,767,057 (GRCm39)	missense	probably damaging	1.00
R4292:Angel1	UTSW	12	86,767,057 (GRCm39)	missense	probably damaging	1.00
R4295:Angel1	UTSW	12	86,767,057 (GRCm39)	missense	probably damaging	1.00
R4450:Angel1	UTSW	12	86,768,698 (GRCm39)	missense	probably damaging	1.00
R4726:Angel1	UTSW	12	86,768,649 (GRCm39)	missense	probably damaging	0.99
R7097:Angel1	UTSW	12	86,773,158 (GRCm39)	missense	probably damaging	0.98
R7284:Angel1	UTSW	12	86,767,298 (GRCm39)	missense	probably damaging	1.00
R7616:Angel1	UTSW	12	86,764,510 (GRCm39)	missense	probably benign	0.00
R7984:Angel1	UTSW	12	86,767,068 (GRCm39)	missense	probably benign	0.33
R9010:Angel1	UTSW	12	86,770,153 (GRCm39)	missense	possibly damaging	0.78

Posted On

2014-01-21