Mutagenetix > Incidental Mutation

Incidental Mutation 'R7984:Angel1'

651386

Institutional Source

Beutler Lab

Gene Symbol

Angel1

Ensembl Gene

ENSMUSG00000021257

Gene Name

angel homolog 1

Synonyms

1110030H02Rik

MMRRC Submission

046025-MU

Accession Numbers

Essential gene?

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

Stock #

R7984 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

86747276-86773234 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 86767068 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glycine at position 436 (D436G)

Ref Sequence

ENSEMBL: ENSMUSP00000021682 (fasta)

Gene Model

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

AlphaFold

Q8VCU0

Predicted Effect

probably benign
Transcript: ENSMUST00000021682
AA Change: D436G

PolyPhen 2 Score 0.332 (Sensitivity: 0.90; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000021682
Gene: ENSMUSG00000021257
AA Change: D436G

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

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.6%
20x: 98.8%

Validation Efficiency

100% (58/58)

Allele List at MGI

Other mutations in this stock

Total: 63 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Akr1e1	G	T	13: 4,645,679 (GRCm39)	H226N	probably damaging	Het
Aldh1a7	T	C	19: 20,686,764 (GRCm39)	D283G	probably damaging	Het
Ank1	G	A	8: 23,578,982 (GRCm39)	R314Q	probably damaging	Het
Apbb2	T	C	5: 66,465,035 (GRCm39)	E629G	probably damaging	Het
Card9	T	G	2: 26,246,784 (GRCm39)	I355L	probably benign	Het
Cdon	C	T	9: 35,414,598 (GRCm39)	P1158S	probably benign	Het
Cpne7	T	G	8: 123,846,461 (GRCm39)	V91G	possibly damaging	Het
Dlc1	T	A	8: 37,405,472 (GRCm39)	T106S	possibly damaging	Het
Dnah1	A	T	14: 30,989,772 (GRCm39)	F3248Y	probably damaging	Het
Dnah7a	A	T	1: 53,543,377 (GRCm39)	D2264E	probably benign	Het
Dock7	A	T	4: 98,877,303 (GRCm39)	N1078K	unknown	Het
Emc1	T	A	4: 139,102,760 (GRCm39)	L973H	probably damaging	Het
Fer1l5	T	A	1: 36,447,702 (GRCm39)	L955Q	possibly damaging	Het
Fpr-rs7	T	C	17: 20,333,671 (GRCm39)	N273S	probably benign	Het
Gle1	T	A	2: 29,828,588 (GRCm39)	Y137N	probably damaging	Het
Grik4	G	A	9: 42,582,557 (GRCm39)	Q130*	probably null	Het
Hcn1	C	T	13: 118,112,609 (GRCm39)	Q858*	probably null	Het
Heg1	A	C	16: 33,583,945 (GRCm39)	S76R	possibly damaging	Het
Ikbke	T	A	1: 131,203,523 (GRCm39)	E50V	probably null	Het
Itga5	G	A	15: 103,264,379 (GRCm39)	P297S	probably damaging	Het
Kcng1	C	A	2: 168,104,406 (GRCm39)	R480L	possibly damaging	Het
Kdm3b	G	T	18: 34,956,752 (GRCm39)	E1236*	probably null	Het
Ldlrad4	G	T	18: 68,368,740 (GRCm39)	A66S	possibly damaging	Het
Lrp5	A	G	19: 3,662,342 (GRCm39)	F894L	probably damaging	Het
Lrrk1	T	C	7: 65,950,477 (GRCm39)		probably null	Het
Man2a2	T	G	7: 80,003,056 (GRCm39)	T1018P	probably damaging	Het
Mctp2	T	C	7: 71,752,937 (GRCm39)	Q772R	possibly damaging	Het
Meioc	T	A	11: 102,565,432 (GRCm39)	N293K	possibly damaging	Het
Mrps24	A	T	11: 5,657,495 (GRCm39)	C34S	possibly damaging	Het
Nek1	G	T	8: 61,574,087 (GRCm39)	E1112*	probably null	Het
Nt5dc2	A	G	14: 30,860,775 (GRCm39)	S317G	probably damaging	Het
Obscn	G	T	11: 58,997,151 (GRCm39)	Q1492K	possibly damaging	Het
Or2a57	T	G	6: 43,212,730 (GRCm39)	S63A	probably damaging	Het
Or52e4	T	C	7: 104,705,639 (GRCm39)	F62S	probably damaging	Het
Or6c69	A	G	10: 129,747,941 (GRCm39)	F69L	probably benign	Het
Or8b36	A	G	9: 37,937,155 (GRCm39)	T18A	probably damaging	Het
Or9m1b	T	A	2: 87,836,969 (GRCm39)	N42I	probably damaging	Het
Or9s23	A	G	1: 92,501,144 (GRCm39)	I84V	probably benign	Het
P2ry12	T	A	3: 59,125,022 (GRCm39)	I218F	probably damaging	Het
Paip1	C	T	13: 119,566,698 (GRCm39)	Q11*	probably null	Het
Pcdhga3	C	A	18: 37,809,549 (GRCm39)	D667E	probably benign	Het
Pcnx2	T	G	8: 126,485,865 (GRCm39)	E1911A	probably benign	Het
Pibf1	T	C	14: 99,459,063 (GRCm39)	L678P	probably damaging	Het
Pira2	A	T	7: 3,844,696 (GRCm39)	F445Y	probably benign	Het
Prickle2	T	C	6: 92,387,855 (GRCm39)	T516A	probably benign	Het
Prl2c1	G	A	13: 28,039,310 (GRCm39)		probably null	Het
Rnf112	A	G	11: 61,340,306 (GRCm39)	V656A	possibly damaging	Het
Siglecf	A	C	7: 43,004,655 (GRCm39)		probably null	Het
Slc24a1	A	T	9: 64,856,811 (GRCm39)	L32*	probably null	Het
Slc7a1	A	G	5: 148,278,920 (GRCm39)	V284A	possibly damaging	Het
Slco5a1	T	A	1: 12,951,608 (GRCm39)	H565L	probably damaging	Het
Slit2	A	G	5: 48,333,465 (GRCm39)		probably benign	Het
Sulf1	A	G	1: 12,929,497 (GRCm39)	T255A	probably benign	Het
Tmem130	C	T	5: 144,692,237 (GRCm39)	G56R	possibly damaging	Het
Trmt1l	A	C	1: 151,311,489 (GRCm39)	Q116H	probably benign	Het
Ttn	A	T	2: 76,554,094 (GRCm39)	W30870R	probably damaging	Het
Unc13b	A	T	4: 43,173,973 (GRCm39)	L1600F	unknown	Het
Vmn1r233	C	T	17: 21,214,417 (GRCm39)	V178M	probably damaging	Het
Vmn2r18	G	A	5: 151,485,526 (GRCm39)	P656L	probably damaging	Het
Vmn2r33	A	T	7: 7,566,862 (GRCm39)	D83E	probably benign	Het
Vps13b	G	A	15: 35,880,059 (GRCm39)	V3045I	probably benign	Het
Wdr25	A	T	12: 108,976,983 (GRCm39)		probably null	Het
Xpo6	A	G	7: 125,719,616 (GRCm39)	V591A	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
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
R9010:Angel1	UTSW	12	86,770,153 (GRCm39)	missense	possibly damaging	0.78

Predicted Primers

PCR Primer
(F):5'- GGTATTCATGTGCTGCTAATCGC -3'
(R):5'- TCCTCAACCGGGACAATGTG -3'

Sequencing Primer
(F):5'- TGCTAATCGCCAGGAGCAGAC -3'
(R):5'- AAGGTCTGGGGCAAGTCTC -3'

Posted On

2020-09-15