Mutagenetix > Incidental Mutations

Incidental Mutation 'R6240:Gm8765'

505192

Institutional Source

Beutler Lab

Gene Symbol

Gm8765

Ensembl Gene

ENSMUSG00000094918

Gene Name

predicted gene 8765

Synonyms

MMRRC Submission

044364-MU

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.066) question?

Stock #

R6240 (G1)

Quality Score

81.0075

Status

Not validated

Chromosome

Chromosomal Location

50698312-50703435 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 50701417 bp

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Asparagine at position 364 (D364N)

Ref Sequence

ENSEMBL: ENSMUSP00000097118 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000099518]

Predicted Effect

probably damaging
Transcript: ENSMUST00000099518
AA Change: D364N

PolyPhen 2 Score 0.971 (Sensitivity: 0.77; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000097118
Gene: ENSMUSG00000094918
AA Change: D364N

Domain	Start	End	E-Value	Type
low complexity region	69	82	N/A	INTRINSIC
Pfam:FAM75	95	418	1.1e-15	PFAM
SCOP:d1i5pa1	811	874	9e-3	SMART

Coding Region Coverage

1x: 99.9%
3x: 99.7%
10x: 98.4%
20x: 95.5%

Validation Efficiency

98% (62/63)

Allele List at MGI

Other mutations in this stock

Total: 62 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930578I06Rik	C	A	14: 63,986,252	R25L	probably damaging	Het
9930021J03Rik	A	T	19: 29,717,240	S1618T	probably benign	Het
Adamts1	G	A	16: 85,802,157	S185L	probably benign	Het
Adamts12	A	T	15: 11,285,958	D751V	probably benign	Het
Adgrg3	A	G	8: 95,039,916	D405G	probably benign	Het
Ahi1	A	G	10: 20,977,081	D516G	probably damaging	Het
Ahnak	A	T	19: 9,013,583	D4077V	probably damaging	Het
Arhgef18	G	A	8: 3,439,658	R330Q	probably damaging	Het
Arid1a	A	G	4: 133,680,686	V2170A	unknown	Het
Asxl3	C	T	18: 22,465,508	L227F	probably damaging	Het
B3glct	A	G	5: 149,726,788	I119V	probably benign	Het
Cad	T	A	5: 31,072,978	M1512K	probably benign	Het
Cdc25a	A	G	9: 109,884,158	T172A	probably damaging	Het
Cdh18	A	G	15: 23,226,936	D161G	possibly damaging	Het
Clmp	A	G	9: 40,782,411	N308S	probably damaging	Het
Dlg5	A	T	14: 24,149,528		probably null	Het
Dscam	G	A	16: 96,619,502	T1728M	probably damaging	Het
E4f1	A	G	17: 24,444,582	S524P	possibly damaging	Het
Epha5	G	C	5: 84,117,579	A452G	probably benign	Het
Fzd3	T	C	14: 65,209,855	T542A	probably damaging	Het
Glyctk	A	T	9: 106,156,262		probably null	Het
Gm10382	G	A	5: 125,389,596		probably benign	Het
Hnmt	T	A	2: 24,014,269	M127L	probably benign	Het
Hoxc10	T	A	15: 102,970,830	W262R	probably damaging	Het
Icam5	T	A	9: 21,033,158	W52R	possibly damaging	Het
Jazf1	A	T	6: 52,777,552	C180S	probably damaging	Het
Kcnk2	A	G	1: 189,242,982	W286R	probably damaging	Het
Kcnmb2	C	T	3: 32,181,896	S98F	probably damaging	Het
Mob3a	C	G	10: 80,689,864	E204D	possibly damaging	Het
Morc3	C	G	16: 93,862,684	H459D	probably damaging	Het
Mroh2b	A	T	15: 4,934,644	N876I	probably benign	Het
Myo16	A	T	8: 10,370,930	T257S	probably damaging	Het
Nat1	A	T	8: 67,491,702	R243S	possibly damaging	Het
Nudt9	T	C	5: 104,047,089	V17A	probably benign	Het
Olfr1205	A	G	2: 88,831,363	D82G	probably benign	Het
Olfr1216	A	G	2: 89,013,626	I146T	probably benign	Het
Olfr1340	A	G	4: 118,726,471	S75G	probably benign	Het
Olfr734	A	G	14: 50,320,586	V83A	probably benign	Het
Olfr814	C	A	10: 129,874,677	V27L	probably benign	Het
Pcdh7	T	C	5: 57,721,362	L753P	probably damaging	Het
Pcf11	T	A	7: 92,646,502	E1446D	probably damaging	Het
Pepd	A	G	7: 35,021,751	I267V	probably benign	Het
Plk2	T	A	13: 110,399,474	Y571N	probably damaging	Het
Plk2	T	A	13: 110,400,034	V620E	probably damaging	Het
Prag1	T	C	8: 36,103,352	L363P	probably benign	Het
Psmd3	A	G	11: 98,693,653	T387A	probably damaging	Het
Ptgs1	G	A	2: 36,237,285	C61Y	probably damaging	Het
Rab18	T	C	18: 6,784,635	Y109H	probably benign	Het
Robo2	G	A	16: 73,982,139	P358L	probably damaging	Het
Smarcc2	C	T	10: 128,488,024		probably benign	Het
Srgap1	A	G	10: 122,047,156	I13T	probably benign	Het
Tcf12	T	A	9: 71,944,016	K110*	probably null	Het
Tdrd1	T	C	19: 56,841,335	S214P	probably benign	Het
Tdrd3	T	A	14: 87,505,886	N417K	probably damaging	Het
Tmem255b	A	G	8: 13,454,216	Y136C	probably damaging	Het
Tmem63c	A	T	12: 87,076,405	I448F	possibly damaging	Het
Tnpo1	T	C	13: 98,863,829	I335M	probably damaging	Het
Vmn1r1	T	C	1: 182,157,621	T160A	probably damaging	Het
Vmn1r203	A	G	13: 22,524,729	N227D	possibly damaging	Het
Vmn2r6	T	A	3: 64,556,805	S203C	probably damaging	Het
Zfp628	A	G	7: 4,919,849	T357A	possibly damaging	Het
Zfp872	A	G	9: 22,199,884	K220E	probably damaging	Het

Other mutations in Gm8765

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01548:Gm8765	APN	13	50700378	missense	probably benign	0.18
IGL02452:Gm8765	APN	13	50703077	missense	probably damaging	0.99
IGL02610:Gm8765	APN	13	50701712	missense	possibly damaging	0.91
IGL03171:Gm8765	APN	13	50702352	missense	probably benign	0.23
IGL03369:Gm8765	APN	13	50703164	missense	possibly damaging	0.74
PIT4382001:Gm8765	UTSW	13	50700971	missense	probably damaging	0.99
R0346:Gm8765	UTSW	13	50703310	missense	probably benign	0.12
R1015:Gm8765	UTSW	13	50701628	missense	possibly damaging	0.92
R1054:Gm8765	UTSW	13	50702396	missense	probably benign	0.01
R1102:Gm8765	UTSW	13	50703082	missense	probably benign	0.00
R1519:Gm8765	UTSW	13	50700407	critical splice donor site	probably null
R1628:Gm8765	UTSW	13	50702288	missense	probably benign	0.25
R1754:Gm8765	UTSW	13	50701087	missense	probably damaging	0.98
R4212:Gm8765	UTSW	13	50700352	missense	possibly damaging	0.94
R4672:Gm8765	UTSW	13	50703172	missense	probably benign
R4780:Gm8765	UTSW	13	50701080	missense	probably damaging	0.97
R4794:Gm8765	UTSW	13	50703239	missense	probably benign	0.07
R5171:Gm8765	UTSW	13	50700378	missense	possibly damaging	0.85
R6366:Gm8765	UTSW	13	50701936	missense	probably benign	0.01
R6421:Gm8765	UTSW	13	50701951	missense	probably benign	0.35
R6644:Gm8765	UTSW	13	50702035	missense	possibly damaging	0.54
R6678:Gm8765	UTSW	13	50701910	missense	probably benign	0.14
R6788:Gm8765	UTSW	13	50703095	missense	probably damaging	0.99
R7030:Gm8765	UTSW	13	50702983	missense	possibly damaging	0.52
R7513:Gm8765	UTSW	13	50702873	missense	probably benign	0.01
R7681:Gm8765	UTSW	13	50702254	missense	possibly damaging	0.70
R7753:Gm8765	UTSW	13	50701781	missense	probably damaging	1.00
R7794:Gm8765	UTSW	13	50702308	missense	probably damaging	0.98
R7994:Gm8765	UTSW	13	50702864	missense	probably benign	0.04
R8021:Gm8765	UTSW	13	50701094	missense	possibly damaging	0.50
Z1177:Gm8765	UTSW	13	50702144	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- AGGAACCCCATTCAGATTCCTC -3'
(R):5'- TGGACACTCTGTGAAATTTGATGC -3'

Sequencing Primer
(F):5'- ATTCAGATTCCTCCCCTACAGG -3'
(R):5'- AAATTTGATGCTGTCTTTGCCTCAG -3'

Posted On

2018-02-28