Mutagenetix > Incidental Mutation

Incidental Mutation 'R4295:Angel1'

323277

Institutional Source

Beutler Lab

Gene Symbol

Angel1

Ensembl Gene

ENSMUSG00000021257

Gene Name

angel homolog 1

Synonyms

1110030H02Rik

MMRRC Submission

041084-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.164) question?

Stock #

R4295 (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: 99.4%
3x: 98.7%
10x: 97.4%
20x: 95.5%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 41 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4833420G17Rik	T	C	13: 119,606,249 (GRCm39)	S164P	probably benign	Het
4933427D06Rik	A	G	6: 89,084,883 (GRCm39)		noncoding transcript	Het
Aldh1l2	C	T	10: 83,331,784 (GRCm39)	V674M	possibly damaging	Het
Atr	A	G	9: 95,756,479 (GRCm39)	I870V	probably benign	Het
Cd200r4	T	C	16: 44,653,239 (GRCm39)	V3A	probably damaging	Het
Celf2	T	C	2: 6,608,875 (GRCm39)	N302S	probably benign	Het
Cip2a	T	A	16: 48,833,612 (GRCm39)	F571Y	probably benign	Het
Dnah17	A	T	11: 118,009,598 (GRCm39)	I363N	probably damaging	Het
Fam98a	A	T	17: 75,848,342 (GRCm39)	M124K	probably damaging	Het
Fhdc1	C	A	3: 84,352,133 (GRCm39)	V1031F	probably benign	Het
Foxj3	G	T	4: 119,483,494 (GRCm39)	G555*	probably null	Het
Gm4841	T	C	18: 60,403,262 (GRCm39)	N277S	probably benign	Het
Kcnv1	G	A	15: 44,977,840 (GRCm39)	T66M	probably damaging	Het
Kif18a	T	C	2: 109,123,398 (GRCm39)	V224A	probably benign	Het
Lamb2	A	G	9: 108,363,410 (GRCm39)	D863G	probably benign	Het
Lbr	C	T	1: 181,648,267 (GRCm39)	C398Y	probably damaging	Het
Lcn11	G	A	2: 25,668,111 (GRCm39)	A90T	possibly damaging	Het
Or14c46	A	T	7: 85,918,968 (GRCm39)	F10I	probably damaging	Het
Or2v2	T	A	11: 49,004,254 (GRCm39)	I100L	probably benign	Het
Or5m3	T	C	2: 85,838,614 (GRCm39)	Y165H	probably benign	Het
Or8d2b	A	G	9: 38,788,609 (GRCm39)	I46V	probably damaging	Het
Or9a4	T	A	6: 40,549,090 (GRCm39)	F257I	probably damaging	Het
Pcdhb5	T	A	18: 37,455,734 (GRCm39)	S705T	possibly damaging	Het
Pcgf2	A	T	11: 97,584,282 (GRCm39)	Y24*	probably null	Het
Phf14	C	T	6: 11,987,096 (GRCm39)	P559S	probably damaging	Het
Pigf	A	G	17: 87,331,184 (GRCm39)	I46T	probably benign	Het
Plpp4	A	G	7: 128,909,356 (GRCm39)	E22G	probably damaging	Het
Prdm10	A	G	9: 31,227,590 (GRCm39)	E65G	possibly damaging	Het
Sash1	A	G	10: 8,606,006 (GRCm39)	S795P	possibly damaging	Het
Slc22a21	T	C	11: 53,860,329 (GRCm39)	D34G	probably damaging	Het
Spata13	T	A	14: 60,947,004 (GRCm39)	M684K	probably damaging	Het
Srsf6	T	C	2: 162,776,636 (GRCm39)		probably benign	Het
Stk32c	T	C	7: 138,700,704 (GRCm39)		probably null	Het
Tjp1	T	C	7: 64,972,898 (GRCm39)	D514G	probably damaging	Het
Ttll11	TCGCCGCCGCCGCCGCCGCCGC	TCGCCGCCGCCGCCGCCGC	2: 35,869,564 (GRCm39)		probably benign	Het
Unc13c	A	G	9: 73,641,786 (GRCm39)	S1236P	probably damaging	Het
Utp20	G	T	10: 88,590,381 (GRCm39)	D2364E	possibly damaging	Het
Vmn1r192	T	A	13: 22,371,465 (GRCm39)	I252F	probably damaging	Het
Vmn1r76	T	C	7: 11,665,057 (GRCm39)	I52M	probably benign	Het
Xndc1	T	A	7: 101,730,694 (GRCm39)	L288M	possibly damaging	Het
Zfp451	A	T	1: 33,816,836 (GRCm39)	F154L	probably damaging	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
R4292: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'- TGTGGCAAATACCCATGTCC -3'

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

Posted On

2015-06-20