Mutagenetix > Incidental Mutation

Incidental Mutation 'R5157:AY074887'

396782

Institutional Source

Beutler Lab

Gene Symbol

AY074887

Ensembl Gene

ENSMUSG00000044820

Gene Name

cDNA sequence AY074887

Synonyms

Mcpr1

MMRRC Submission

042739-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.107) question?

Stock #

R5157 (G1)

Quality Score

163

Status

Validated

Chromosome

Chromosomal Location

54857528-54858238 bp(-) (GRCm39)

Type of Mutation

utr 5 prime

DNA Base Change (assembly)

T to C at 54858102 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000126844 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000034848] [ENSMUST00000039742] [ENSMUST00000054018] [ENSMUST00000171900] [ENSMUST00000172407]

AlphaFold

Q8R5F9

Predicted Effect

probably benign
Transcript: ENSMUST00000034848

SMART Domains

Protein: ENSMUSP00000034848
Gene: ENSMUSG00000032301

Domain	Start	End	E-Value	Type
Proteasome_A_N	5	27	1.6e-9	SMART
Pfam:Proteasome	28	216	1.5e-57	PFAM
low complexity region	238	261	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000039742

SMART Domains

Protein: ENSMUSP00000039980
Gene: ENSMUSG00000035878

Domain	Start	End	E-Value	Type
low complexity region	2	13	N/A	INTRINSIC
Pfam:APH	36	300	2.2e-37	PFAM

Predicted Effect

unknown
Transcript: ENSMUST00000054018
AA Change: I8V

SMART Domains

Protein: ENSMUSP00000049861
Gene: ENSMUSG00000044820
AA Change: I8V

Domain	Start	End	E-Value	Type
low complexity region	14	36	N/A	INTRINSIC
transmembrane domain	105	127	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000163960

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000164679

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000169008

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000171578

Predicted Effect

probably benign
Transcript: ENSMUST00000171900

SMART Domains

Protein: ENSMUSP00000132368
Gene: ENSMUSG00000032301

Domain	Start	End	E-Value	Type
Proteasome_A_N	5	27	1.6e-9	SMART
Pfam:Proteasome	28	139	1.2e-33	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000172407

SMART Domains

Protein: ENSMUSP00000126844
Gene: ENSMUSG00000032301

Domain	Start	End	E-Value	Type
Proteasome_A_N	5	27	1.6e-9	SMART
Pfam:Proteasome	28	210	3.2e-56	PFAM

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 99.2%
3x: 98.5%
10x: 96.9%
20x: 94.2%

Validation Efficiency

100% (57/57)

Allele List at MGI

Other mutations in this stock

Total: 46 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca3	C	T	17: 24,627,096 (GRCm39)	R1266C	probably damaging	Het
Adap2	T	C	11: 80,047,772 (GRCm39)	F76S	probably damaging	Het
Adgb	T	A	10: 10,274,710 (GRCm39)	H747L	probably damaging	Het
Aox1	T	A	1: 58,109,222 (GRCm39)	V670D	probably damaging	Het
Ap4e1	A	G	2: 126,903,615 (GRCm39)	D839G	probably benign	Het
Arhgef11	T	A	3: 87,635,817 (GRCm39)		probably null	Het
Bicd1	C	G	6: 149,421,912 (GRCm39)	Q878E	probably benign	Het
Catspere1	A	T	1: 177,707,348 (GRCm39)		noncoding transcript	Het
Cnmd	T	C	14: 79,894,126 (GRCm39)	Q87R	probably benign	Het
Col24a1	G	T	3: 145,051,712 (GRCm39)	G661*	probably null	Het
Crtap	G	A	9: 114,213,860 (GRCm39)	L232F	probably damaging	Het
Ctsq	T	C	13: 61,184,913 (GRCm39)	T258A	probably benign	Het
Cyp2d26	T	C	15: 82,675,190 (GRCm39)	Q388R	probably benign	Het
Ddb1	A	T	19: 10,599,728 (GRCm39)	T646S	probably benign	Het
Dnah6	G	T	6: 73,172,617 (GRCm39)	S280R	probably benign	Het
Dzank1	T	C	2: 144,325,332 (GRCm39)	H545R	probably damaging	Het
Ehhadh	T	A	16: 21,585,261 (GRCm39)	M207L	probably benign	Het
Elmo2	T	A	2: 165,133,627 (GRCm39)		probably benign	Het
Golga3	G	A	5: 110,350,537 (GRCm39)	A731T	probably benign	Het
Igsf21	T	C	4: 139,755,378 (GRCm39)	T426A	possibly damaging	Het
Kcnf1	T	C	12: 17,224,742 (GRCm39)	E493G	probably benign	Het
Lmna	A	T	3: 88,391,414 (GRCm39)	D364E	probably damaging	Het
Lsr	T	C	7: 30,665,465 (GRCm39)	Y163C	probably damaging	Het
Map3k20	A	T	2: 72,268,558 (GRCm39)	T522S	probably benign	Het
Mroh9	C	A	1: 162,871,690 (GRCm39)	A598S	probably damaging	Het
Msln	T	C	17: 25,971,957 (GRCm39)	M87V	probably benign	Het
Or14c39	A	G	7: 86,344,440 (GRCm39)	K259E	probably benign	Het
Or1e26	T	C	11: 73,480,549 (GRCm39)	N5S	probably damaging	Het
Or4a27	T	A	2: 88,559,892 (GRCm39)	Q17L	probably benign	Het
Or5d16	T	A	2: 87,773,232 (GRCm39)	M247L	probably benign	Het
Pals1	T	A	12: 78,867,589 (GRCm39)	M324K	possibly damaging	Het
Plekhg5	T	A	4: 152,192,322 (GRCm39)		probably benign	Het
Pprc1	G	T	19: 46,053,197 (GRCm39)		probably benign	Het
Ptprm	T	A	17: 67,264,092 (GRCm39)	K385I	probably benign	Het
Rfxap	T	A	3: 54,711,938 (GRCm39)	N215I	probably damaging	Het
Slc16a7	A	T	10: 125,069,333 (GRCm39)	Y114*	probably null	Het
Smarcb1	G	T	10: 75,747,628 (GRCm39)		probably benign	Het
Spef2	T	A	15: 9,668,877 (GRCm39)	R770*	probably null	Het
Stard9	A	T	2: 120,528,342 (GRCm39)	Y1533F	probably benign	Het
Tbcd	A	T	11: 121,500,853 (GRCm39)	Y1142F	probably benign	Het
Trappc2b	A	T	11: 51,576,893 (GRCm39)	S2T	probably benign	Het
Ttc23l	G	T	15: 10,551,636 (GRCm39)	T30K	possibly damaging	Het
Uba7	G	A	9: 107,857,246 (GRCm39)	V703I	probably benign	Het
Upb1	T	C	10: 75,248,638 (GRCm39)	S53P	possibly damaging	Het
Zfp672	A	G	11: 58,207,677 (GRCm39)	S215P	possibly damaging	Het
Zfp978	T	A	4: 147,475,437 (GRCm39)	L328H	probably damaging	Het

Other mutations in AY074887

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01012:AY074887	APN	9	54,857,963 (GRCm39)	unclassified	probably benign
R7023:AY074887	UTSW	9	54,858,149 (GRCm39)	utr 5 prime	probably benign
R8717:AY074887	UTSW	9	54,857,786 (GRCm39)	missense	probably damaging	0.99
R9238:AY074887	UTSW	9	54,858,087 (GRCm39)	missense	unknown

Predicted Primers

PCR Primer
(F):5'- TCTCCACGGTATAGACGCTTC -3'
(R):5'- TGCAAAGTCATCGTGCCCAC -3'

Sequencing Primer
(F):5'- ACGGTATAGACGCTTCCCTCC -3'
(R):5'- CCCACGGCTCCTCGGTG -3'

Posted On

2016-06-21