Mutagenetix > Incidental Mutation

Incidental Mutation 'R7688:Macrod1'

593228

Institutional Source

Beutler Lab

Gene Symbol

Macrod1

Ensembl Gene

ENSMUSG00000036278

Gene Name

mono-ADP ribosylhydrolase 1

Synonyms

D930010J01Rik

MMRRC Submission

045752-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R7688 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

7034178-7175422 bp(+) (GRCm39)

Type of Mutation

nonsense

DNA Base Change (assembly)

C to A at 7174230 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Stop codon at position 245 (Y245*)

Ref Sequence

ENSEMBL: ENSMUSP00000039507 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000025679] [ENSMUST00000040261] [ENSMUST00000123594] [ENSMUST00000142085]

AlphaFold

Q922B1

Predicted Effect

probably benign
Transcript: ENSMUST00000025679

SMART Domains

Protein: ENSMUSP00000025679
Gene: ENSMUSG00000024767

Domain	Start	End	E-Value	Type
low complexity region	4	13	N/A	INTRINSIC
Pfam:Peptidase_C65	40	271	1e-89	PFAM
Pfam:OTU	86	266	1.5e-7	PFAM

Predicted Effect

probably null
Transcript: ENSMUST00000040261
AA Change: Y245*

SMART Domains

Protein: ENSMUSP00000039507
Gene: ENSMUSG00000036278
AA Change: Y245*

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

Predicted Effect

probably benign
Transcript: ENSMUST00000123594

SMART Domains

Protein: ENSMUSP00000115195
Gene: ENSMUSG00000024767

Domain	Start	End	E-Value	Type
Pfam:Peptidase_C65	10	241	2e-90	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000142085

SMART Domains

Protein: ENSMUSP00000122945
Gene: ENSMUSG00000024767

Domain	Start	End	E-Value	Type
Pfam:Peptidase_C65	10	95	2.6e-30	PFAM

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.7%
20x: 99.2%

Validation Efficiency

100% (47/47)

Allele List at MGI

Other mutations in this stock

Total: 46 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Bag6	T	C	17: 35,365,868 (GRCm39)	Y1102H	probably damaging	Het
Cldn24	G	A	8: 48,275,740 (GRCm39)	C188Y	probably damaging	Het
Dennd4c	T	C	4: 86,713,377 (GRCm39)	W443R	probably damaging	Het
Dmxl1	T	A	18: 50,088,938 (GRCm39)	C2806S	probably benign	Het
Epb41l2	T	C	10: 25,355,036 (GRCm39)	Y449H	probably damaging	Het
Ets1	T	A	9: 32,607,720 (GRCm39)	I14N	probably benign	Het
F11	A	T	8: 45,703,127 (GRCm39)	F188I	probably damaging	Het
Fam13a	C	T	6: 58,912,692 (GRCm39)	V654I	probably benign	Het
Flt1	C	T	5: 147,613,135 (GRCm39)	V369I	probably benign	Het
Focad	T	A	4: 88,096,370 (GRCm39)	Y251N	probably damaging	Het
Gm5150	A	G	3: 16,017,747 (GRCm39)	S175P	probably benign	Het
Hnrnpul2	T	A	19: 8,797,994 (GRCm39)	S117T	probably benign	Het
Kcnj5	A	G	9: 32,234,264 (GRCm39)	V17A	probably benign	Het
Kctd1	T	G	18: 15,107,255 (GRCm39)	T737P	probably benign	Het
Kif14	T	C	1: 136,422,392 (GRCm39)	V894A	probably damaging	Het
Klhl12	A	T	1: 134,416,768 (GRCm39)	T497S	probably benign	Het
Klhl6	C	A	16: 19,765,881 (GRCm39)	V574L	probably damaging	Het
Lama1	A	T	17: 68,068,623 (GRCm39)	D774V		Het
Leng1	G	A	7: 3,665,809 (GRCm39)	P176L	probably benign	Het
Lig1	T	C	7: 13,023,389 (GRCm39)	L196P	probably benign	Het
Mcf2l	T	A	8: 12,998,130 (GRCm39)	I6N	possibly damaging	Het
Megf11	A	G	9: 64,599,146 (GRCm39)	D687G	possibly damaging	Het
Muc4	A	T	16: 32,570,278 (GRCm39)	H446L	possibly damaging	Het
Oasl2	A	T	5: 115,035,909 (GRCm39)	I62F	probably benign	Het
Oog4	CAA	CA	4: 143,164,022 (GRCm39)		probably null	Het
Or14a257	A	G	7: 86,138,183 (GRCm39)	V192A	probably benign	Het
Or4b12	A	T	2: 90,095,959 (GRCm39)	F272I	probably damaging	Het
Or52e8	C	A	7: 104,624,332 (GRCm39)	A291S	possibly damaging	Het
Pdcl2	T	C	5: 76,465,770 (GRCm39)	N150S	probably benign	Het
Pfkfb3	A	G	2: 11,497,450 (GRCm39)	Y54H	probably damaging	Het
Rab25	A	T	3: 88,452,270 (GRCm39)		probably null	Het
Slc22a18	G	A	7: 143,033,560 (GRCm39)	G104S	probably damaging	Het
Slc44a5	T	A	3: 153,679,437 (GRCm39)		probably null	Het
Slc5a8	A	G	10: 88,757,561 (GRCm39)	Y517C	probably damaging	Het
Spata18	A	G	5: 73,809,005 (GRCm39)	N26S	probably benign	Het
Tas2r115	T	A	6: 132,714,643 (GRCm39)	S103C	probably damaging	Het
Tigd2	T	A	6: 59,187,382 (GRCm39)	M83K	probably damaging	Het
Tnxb	T	A	17: 34,890,880 (GRCm39)	C408S	probably benign	Het
Trbj2-3	T	A	6: 41,520,159 (GRCm39)	S1R	possibly damaging	Het
Triobp	T	C	15: 78,845,311 (GRCm39)		probably null	Het
Uaca	A	G	9: 60,781,409 (GRCm39)	Q1349R	probably benign	Het
Ube2j2	T	A	4: 156,040,885 (GRCm39)	L171I	probably damaging	Het
Usp17ld	C	A	7: 102,899,982 (GRCm39)	G317W	probably damaging	Het
Vinac1	G	A	2: 128,880,964 (GRCm39)	Q321*	probably null	Het
Vmn2r72	T	A	7: 85,404,098 (GRCm39)	D31V	probably benign	Het
Zfp317	T	G	9: 19,559,251 (GRCm39)	H488Q	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
R6535:Macrod1	UTSW	19	7,034,515 (GRCm39)	missense	probably damaging	1.00
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'- TTGGCAAATGGCTGGAGTTAC -3'
(R):5'- GGCTTTTCCAGACTCACCAAAC -3'

Sequencing Primer
(F):5'- GGGCAATGTCAAGGTCTTTCACTAC -3'
(R):5'- CACGCCTGTGGAGATGCAC -3'

Posted On

2019-11-12