Mutagenetix > Incidental Mutation

Incidental Mutation 'R4292:Angel1'

323131

Institutional Source

Beutler Lab

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 #

R4292 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

86747276-86773234 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 86767057 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Histidine at position 440 (Y440H)

Ref Sequence

ENSEMBL: ENSMUSP00000021682 (fasta)

Gene Model

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

AlphaFold

Q8VCU0

Predicted Effect

probably damaging
Transcript: ENSMUST00000021682
AA Change: Y440H

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

SMART Domains

Protein: ENSMUSP00000021682
Gene: ENSMUSG00000021257
AA Change: Y440H

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

Meta Mutation Damage Score

0.5978

Coding Region Coverage

1x: 99.3%
3x: 98.7%
10x: 97.5%
20x: 95.8%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 35 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adamts9	T	C	6: 92,772,977 (GRCm39)	K1232E	possibly damaging	Het
Bclaf1	A	G	10: 20,199,524 (GRCm39)	Q20R	probably damaging	Het
Bivm	A	T	1: 44,177,793 (GRCm39)	R364S	probably damaging	Het
Brwd1	G	A	16: 95,818,804 (GRCm39)	P1343S	probably damaging	Het
Cckar	A	G	5: 53,863,839 (GRCm39)	S41P	probably benign	Het
Cep68	A	T	11: 20,190,079 (GRCm39)	V311D	probably damaging	Het
Cip2a	T	A	16: 48,833,612 (GRCm39)	F571Y	probably benign	Het
Fhdc1	C	A	3: 84,352,133 (GRCm39)	V1031F	probably benign	Het
Gcn1	G	A	5: 115,714,207 (GRCm39)	A116T	possibly damaging	Het
Gucy1a1	A	T	3: 82,002,066 (GRCm39)	F671Y	possibly damaging	Het
Hddc2	A	T	10: 31,190,583 (GRCm39)	M48L	possibly damaging	Het
Kif18a	A	T	2: 109,128,471 (GRCm39)	I376L	probably damaging	Het
Lbr	C	T	1: 181,648,267 (GRCm39)	C398Y	probably damaging	Het
Myh2	A	G	11: 67,085,723 (GRCm39)	K1855R	possibly damaging	Het
Or2v2	T	A	11: 49,004,254 (GRCm39)	I100L	probably benign	Het
Or5b98	G	A	19: 12,931,520 (GRCm39)	C189Y	possibly damaging	Het
Or8d2b	A	G	9: 38,788,609 (GRCm39)	I46V	probably damaging	Het
Pcdhb5	T	A	18: 37,455,734 (GRCm39)	S705T	possibly damaging	Het
Pdss2	A	G	10: 43,097,834 (GRCm39)	Y26C	probably benign	Het
Pgm2l1	A	G	7: 99,899,508 (GRCm39)	T41A	probably damaging	Het
Prss58	T	C	6: 40,874,244 (GRCm39)	D144G	probably damaging	Het
Rrp12	T	C	19: 41,861,344 (GRCm39)		probably null	Het
Sash1	A	G	10: 8,606,006 (GRCm39)	S795P	possibly damaging	Het
Sec16a	A	G	2: 26,312,167 (GRCm39)	Y1998H	probably benign	Het
Slc22a21	T	C	11: 53,860,329 (GRCm39)	D34G	probably damaging	Het
Slco4c1	C	G	1: 96,772,381 (GRCm39)		probably null	Het
Srsf6	T	C	2: 162,776,636 (GRCm39)		probably benign	Het
Tgfb2	T	C	1: 186,364,735 (GRCm39)	H253R	probably damaging	Het
Top3b	A	T	16: 16,701,383 (GRCm39)	I232F	probably damaging	Het
Trim24	G	A	6: 37,877,627 (GRCm39)	R39H	possibly damaging	Het
Tsc22d1	T	A	14: 76,656,320 (GRCm39)	M851K	probably benign	Het
Ttn	A	G	2: 76,762,855 (GRCm39)	V3268A	possibly damaging	Het
Unc79	A	T	12: 103,149,703 (GRCm39)	Q2599L	probably damaging	Het
Vmn1r192	T	A	13: 22,371,465 (GRCm39)	I252F	probably damaging	Het
Vwce	A	G	19: 10,636,996 (GRCm39)	T693A	probably benign	Het

Other mutations in Angel1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01678:Angel1	APN	12	86,763,800 (GRCm39)	missense	probably benign
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
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

Predicted Primers

PCR Primer
(F):5'- CAGAGGAATCGCTTGCAAAC -3'
(R):5'- GTGTGGCAAATACCCATGTC -3'

Sequencing Primer
(F):5'- GCCCGAGGTATTCATGTGC -3'
(R):5'- GTGGCAAATACCCATGTCCTGTAC -3'

Posted On

2015-06-20