Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL03280:Macrod1'

415567

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Macrod1

Ensembl Gene

ENSMUSG00000036278

Gene Name

mono-ADP ribosylhydrolase 1

Synonyms

D930010J01Rik

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

IGL03280

Quality Score

Status

Chromosome

Chromosomal Location

7034178-7175422 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 7174937 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Glycine at position 309 (E309G)

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

possibly damaging
Transcript: ENSMUST00000040261
AA Change: E309G

PolyPhen 2 Score 0.932 (Sensitivity: 0.80; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000039507
Gene: ENSMUSG00000036278
AA Change: E309G

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

noncoding transcript
Transcript: ENSMUST00000123743

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000127241

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

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 36 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Asb4	T	C	6: 5,423,416 (GRCm39)	S188P	probably benign	Het
Bbs5	A	G	2: 69,497,315 (GRCm39)		probably benign	Het
Cdh13	G	T	8: 120,040,873 (GRCm39)	G693W	probably damaging	Het
Cdh20	T	A	1: 110,036,498 (GRCm39)	Y559*	probably null	Het
Cemip	G	A	7: 83,636,538 (GRCm39)		probably benign	Het
Crem	A	G	18: 3,273,415 (GRCm39)		probably benign	Het
Crygf	A	G	1: 65,967,329 (GRCm39)	Y151C	probably damaging	Het
Dcp1b	T	C	6: 119,157,019 (GRCm39)		probably benign	Het
Fanca	A	G	8: 124,043,198 (GRCm39)		probably benign	Het
Fkbp15	A	C	4: 62,221,504 (GRCm39)		probably benign	Het
Gabrp	C	T	11: 33,502,616 (GRCm39)	R416Q	probably benign	Het
Iho1	T	C	9: 108,282,099 (GRCm39)	S530G	possibly damaging	Het
Impg2	T	A	16: 56,088,631 (GRCm39)	Y1052*	probably null	Het
Isg15	T	C	4: 156,284,319 (GRCm39)	M70V	probably benign	Het
Krit1	T	A	5: 3,861,248 (GRCm39)		probably benign	Het
Lrrn3	T	C	12: 41,504,146 (GRCm39)	D57G	probably damaging	Het
Notch1	A	T	2: 26,367,886 (GRCm39)		probably benign	Het
Nptx1	T	C	11: 119,435,555 (GRCm39)	T254A	probably damaging	Het
Or12e9	A	T	2: 87,202,467 (GRCm39)	D197V	probably damaging	Het
Pigm	A	G	1: 172,204,420 (GRCm39)	Y52C	probably damaging	Het
Pramel27	A	T	4: 143,578,489 (GRCm39)	T250S	possibly damaging	Het
Rif1	A	G	2: 52,002,611 (GRCm39)	T2022A	probably benign	Het
Rint1	T	A	5: 24,022,076 (GRCm39)	L646Q	probably damaging	Het
Rpe65	A	T	3: 159,309,978 (GRCm39)	I84F	probably damaging	Het
Scgb2b7	A	T	7: 31,404,506 (GRCm39)	C65S	probably damaging	Het
Scnn1a	T	C	6: 125,319,744 (GRCm39)		probably benign	Het
Selenop	T	C	15: 3,310,104 (GRCm39)		probably benign	Het
Siglecf	T	G	7: 43,005,354 (GRCm39)	V438G	probably benign	Het
St8sia4	T	A	1: 95,581,499 (GRCm39)		probably benign	Het
Tfeb	T	C	17: 48,096,862 (GRCm39)	F43S	probably benign	Het
Tgm6	A	G	2: 129,980,851 (GRCm39)	Y216C	probably damaging	Het
Try10	T	A	6: 41,331,154 (GRCm39)	V10E	probably benign	Het
Ttn	A	T	2: 76,728,811 (GRCm39)	C1234*	probably null	Het
Ugt2a3	G	A	5: 87,484,439 (GRCm39)	P195L	probably damaging	Het
Usp24	T	G	4: 106,237,627 (GRCm39)	I1095R	probably damaging	Het
Usp34	C	T	11: 23,304,897 (GRCm39)	H377Y	probably damaging	Het

Other mutations in Macrod1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
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
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

Posted On

2016-08-02