Mutagenetix > Incidental Mutation

Incidental Mutation 'R1004:Gm20767'

97995

Institutional Source

Beutler Lab

Gene Symbol

Gm20767

Ensembl Gene

ENSMUSG00000096323

Gene Name

predicted gene, 20767

Synonyms

MMRRC Submission

039114-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.125) question?

Stock #

R1004 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

120140246-120155335 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 120155022 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glutamic Acid at position 132 (D132E)

Ref Sequence

ENSEMBL: ENSMUSP00000152988 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000179071] [ENSMUST00000225683]

AlphaFold

O70517

Predicted Effect

probably benign
Transcript: ENSMUST00000179071
AA Change: D132E

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000137504
Gene: ENSMUSG00000096323
AA Change: D132E

Domain	Start	End	E-Value	Type
Pfam:DUF1438	7	155	3.2e-93	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000225683
AA Change: D132E

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 99.1%
3x: 98.3%
10x: 96.2%
20x: 92.7%

Validation Efficiency

100% (41/41)

Allele List at MGI

Other mutations in this stock

Total: 39 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca9	A	G	11: 110,151,954 (GRCm38)	I423T	possibly damaging	Het
Agbl3	A	T	6: 34,803,451 (GRCm38)	E453V	probably damaging	Het
Agxt	A	G	1: 93,135,699 (GRCm38)	M108V	possibly damaging	Het
Akap13	T	C	7: 75,687,286 (GRCm38)	I831T	probably damaging	Het
Anpep	C	T	7: 79,838,256 (GRCm38)	E518K	probably benign	Het
Arid1a	A	G	4: 133,687,275 (GRCm38)	M1215T	unknown	Het
Cd163	G	T	6: 124,325,347 (GRCm38)	D957Y	probably damaging	Het
Ces2e	A	G	8: 104,929,738 (GRCm38)	D200G	probably damaging	Het
Cfap54	T	C	10: 93,066,696 (GRCm38)		probably benign	Het
Col11a1	A	G	3: 114,095,022 (GRCm38)		probably benign	Het
Dlx6	C	T	6: 6,863,665 (GRCm38)	Q96*	probably null	Het
Dpp4	T	A	2: 62,332,640 (GRCm38)	Q754L	probably benign	Het
Ece1	A	G	4: 137,926,239 (GRCm38)	T100A	probably benign	Het
Gabbr2	C	T	4: 46,677,544 (GRCm38)	V779M	possibly damaging	Het
Gatm	C	T	2: 122,609,660 (GRCm38)		probably benign	Het
Gpc2	A	G	5: 138,278,225 (GRCm38)	L213P	probably damaging	Het
Hook1	A	C	4: 96,022,287 (GRCm38)	N713H	probably benign	Het
Kdm5b	T	A	1: 134,588,904 (GRCm38)	I178K	possibly damaging	Het
Mettl9	G	A	7: 121,076,237 (GRCm38)	V287I	probably benign	Het
Mroh2a	C	A	1: 88,242,420 (GRCm38)	A685D	possibly damaging	Het
Mycbp2	G	A	14: 103,140,917 (GRCm38)	T3774I	probably benign	Het
Nupl1	C	A	14: 60,247,481 (GRCm38)		probably benign	Het
Nxf1	A	T	19: 8,764,317 (GRCm38)	T119S	probably benign	Het
Oaz3	T	A	3: 94,435,043 (GRCm38)	H102L	probably damaging	Het
Olfr971	T	C	9: 39,839,980 (GRCm38)	F182S	probably benign	Het
Pfpl	A	T	19: 12,430,425 (GRCm38)	Q680L	probably benign	Het
Poli	T	A	18: 70,525,438 (GRCm38)	Q75L	probably benign	Het
Ppp2r3a	C	T	9: 101,198,630 (GRCm38)		probably null	Het
Prr30	A	G	14: 101,199,093 (GRCm38)	L11P	probably damaging	Het
Ptchd4	A	T	17: 42,377,602 (GRCm38)	Y345F	probably benign	Het
Ric1	A	G	19: 29,602,357 (GRCm38)	N1233S	probably benign	Het
Serpinb9f	TA	"TTTNA,T"	13: 33,334,242 (GRCm38)		probably benign	Het
Sh3bgrl2	C	T	9: 83,577,631 (GRCm38)		probably benign	Het
Skp1a	G	C	11: 52,237,380 (GRCm38)		probably benign	Het
Slc12a9	T	C	5: 137,322,524 (GRCm38)	K528R	probably damaging	Het
Slc22a6	A	G	19: 8,618,399 (GRCm38)	N35S	probably damaging	Het
Xrcc5	A	G	1: 72,383,778 (GRCm38)		probably benign	Het
Zfp235	T	A	7: 24,140,744 (GRCm38)	L266Q	probably damaging	Het
Zfp600	T	A	4: 146,196,533 (GRCm38)		probably benign	Het

Other mutations in Gm20767

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
R3753:Gm20767	UTSW	13	120,154,631 (GRCm38)	missense	possibly damaging	0.56
R3930:Gm20767	UTSW	13	120,154,832 (GRCm38)	missense	probably damaging	0.98
R4873:Gm20767	UTSW	13	120,154,670 (GRCm38)	missense	probably damaging	0.98
R4875:Gm20767	UTSW	13	120,154,670 (GRCm38)	missense	probably damaging	0.98
R5020:Gm20767	UTSW	13	120,155,116 (GRCm38)	missense	possibly damaging	0.85
R5599:Gm20767	UTSW	13	120,154,922 (GRCm38)	missense	probably damaging	0.99
R5802:Gm20767	UTSW	13	120,154,913 (GRCm38)	missense	possibly damaging	0.93
R6469:Gm20767	UTSW	13	120,154,813 (GRCm38)	missense	probably damaging	1.00
R6535:Gm20767	UTSW	13	120,154,654 (GRCm38)	missense	probably damaging	0.98
R7543:Gm20767	UTSW	13	120,154,754 (GRCm38)	missense	probably damaging	0.99
R8974:Gm20767	UTSW	13	120,154,950 (GRCm38)	missense	probably benign	0.40

Predicted Primers

PCR Primer
(F):5'- AGGATGGCTGGATTGCCGAATG -3'
(R):5'- AGCAGGAGCTGACAGAAGATTCCC -3'

Sequencing Primer
(F):5'- GATTGCCGAATGGGATCTATACTCC -3'
(R):5'- CCCTAATTGCAAGTCTTAGCAGG -3'

Posted On

2014-01-05