Mutagenetix > Incidental Mutation

Incidental Mutation 'R6535:Macrod1'

520373

Institutional Source

Beutler Lab

Gene Symbol

Macrod1

Ensembl Gene

ENSMUSG00000036278

Gene Name

mono-ADP ribosylhydrolase 1

Synonyms

D930010J01Rik

MMRRC Submission

044661-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R6535 (G1)

Quality Score

174.009

Status

Not validated

Chromosome

Chromosomal Location

7034178-7175422 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 7034515 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glycine at position 86 (D86G)

Ref Sequence

ENSEMBL: ENSMUSP00000039507 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000040261]

AlphaFold

Q922B1

Predicted Effect

probably damaging
Transcript: ENSMUST00000040261
AA Change: D86G

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000039507
Gene: ENSMUSG00000036278
AA Change: D86G

Domain	Start	End	E-Value	Type
low complexity region	9	21	N/A	INTRINSIC
low complexity region	25	41	N/A	INTRINSIC
low complexity region	59	74	N/A	INTRINSIC
A1pp	151	281	7.67e-46	SMART

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.5%
20x: 98.5%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 27 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adgrf5	G	A	17: 43,750,920 (GRCm39)	S495N	probably benign	Het
Ank3	G	T	10: 69,713,684 (GRCm39)	A448S	probably damaging	Het
Apobec3	A	G	15: 79,781,950 (GRCm39)	*47W	probably null	Het
B4gat1	T	C	19: 5,089,558 (GRCm39)	V185A	possibly damaging	Het
Cers1	T	A	8: 70,782,804 (GRCm39)	V58D	probably damaging	Het
Chrm1	T	A	19: 8,656,437 (GRCm39)	Y381N	possibly damaging	Het
Cpne6	A	T	14: 55,751,122 (GRCm39)	E177V	probably benign	Het
Cpt1a	T	A	19: 3,415,788 (GRCm39)		probably null	Het
Ctsq	A	T	13: 61,183,140 (GRCm39)	I334N	probably damaging	Het
Dennd6b	A	G	15: 89,070,570 (GRCm39)	L400P	probably damaging	Het
Fam135b	A	G	15: 71,493,924 (GRCm39)	S2P	probably damaging	Het
Hip1	T	C	5: 135,457,351 (GRCm39)		probably null	Het
Lama2	A	C	10: 26,980,127 (GRCm39)	L1896R	probably damaging	Het
Ly6g6g	T	C	15: 74,644,074 (GRCm39)	S81G	probably damaging	Het
Macf1	A	T	4: 123,365,728 (GRCm39)	V3011D	possibly damaging	Het
Mettl8	G	T	2: 70,803,733 (GRCm39)	H185N	possibly damaging	Het
Mipol1	A	C	12: 57,352,886 (GRCm39)	Q75P	possibly damaging	Het
Pi4ka	C	T	16: 17,118,900 (GRCm39)	V125M	probably damaging	Het
Pole	A	C	5: 110,472,673 (GRCm39)	Y1618S	probably damaging	Het
Prrc2a	A	G	17: 35,381,241 (GRCm39)	V21A	unknown	Het
Rhbdl1	A	T	17: 26,054,799 (GRCm39)	Y111*	probably null	Het
Sbk3	A	C	7: 4,972,840 (GRCm39)	M110R	possibly damaging	Het
Scn8a	G	A	15: 100,857,588 (GRCm39)		probably benign	Het
Tcstv2c	T	C	13: 120,616,190 (GRCm39)	S10P	probably damaging	Het
Tshz3	T	C	7: 36,468,214 (GRCm39)	S68P	probably damaging	Het
Vmn1r88	C	T	7: 12,912,112 (GRCm39)	T156I	probably benign	Het
Wrn	T	C	8: 33,826,131 (GRCm39)	H177R	probably damaging	Het

Other mutations in Macrod1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL03280:Macrod1	APN	19	7,174,937 (GRCm39)	missense	possibly damaging	0.93
R0138:Macrod1	UTSW	19	7,174,281 (GRCm39)	unclassified	probably benign
R2697:Macrod1	UTSW	19	7,174,157 (GRCm39)	missense	probably damaging	1.00
R3085:Macrod1	UTSW	19	7,173,859 (GRCm39)	missense	probably damaging	1.00
R7688:Macrod1	UTSW	19	7,174,230 (GRCm39)	nonsense	probably null
R8713:Macrod1	UTSW	19	7,034,494 (GRCm39)	missense	probably benign	0.01
R8904:Macrod1	UTSW	19	7,174,385 (GRCm39)	missense	probably damaging	0.96

Predicted Primers

PCR Primer
(F):5'- CGTAAATAGAGTCCGAGTGGGC -3'
(R):5'- TTCCCCACTCGTTTAGTCAAGG -3'

Sequencing Primer
(F):5'- TGCTCATGTCGCTGCAGAG -3'
(R):5'- CCACTCGTTTAGTCAAGGGGTAAC -3'

Posted On

2018-06-06