Mutagenetix > Incidental Mutations

Incidental Mutation 'R1952:Gm4884'

217376

Institutional Source

Beutler Lab

Gene Symbol

Gm4884

Ensembl Gene

ENSMUSG00000048312

Gene Name

predicted gene 4884

Synonyms

MMRRC Submission

039966-MU

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.065) question?

Stock #

R1952 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

41032719-41045302 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 41044247 bp

Zygosity

Heterozygous

Amino Acid Change

Valine to Methionine at position 547 (V547M)

Ref Sequence

ENSEMBL: ENSMUSP00000133059 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000164422]

Predicted Effect

probably benign
Transcript: ENSMUST00000164422
AA Change: V547M

PolyPhen 2 Score 0.020 (Sensitivity: 0.95; Specificity: 0.80)

SMART Domains

Protein: ENSMUSP00000133059
Gene: ENSMUSG00000048312
AA Change: V547M

Domain	Start	End	E-Value	Type
Pfam:DUF4629	243	387	8e-62	PFAM
low complexity region	509	533	N/A	INTRINSIC
internal_repeat_1	554	584	1.89e-11	PROSPERO
internal_repeat_1	583	613	1.89e-11	PROSPERO

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000191289

Coding Region Coverage

1x: 99.1%
3x: 98.4%
10x: 96.7%
20x: 93.9%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 75 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700024G13Rik	A	G	14: 32,388,336	V6A	possibly damaging	Het
Accsl	G	T	2: 93,859,433	H376Q	probably damaging	Het
Adgrg1	T	C	8: 95,008,491		probably null	Het
Alyref	C	G	11: 120,595,932	V168L	probably damaging	Het
Ankrd12	T	C	17: 66,031,571	D128G	probably damaging	Het
Bcl2l14	A	G	6: 134,432,366	Y301C	probably damaging	Het
Camsap3	A	G	8: 3,604,789	T804A	probably damaging	Het
Capn11	A	T	17: 45,642,959	W154R	probably damaging	Het
Cd44	T	A	2: 102,853,087	T201S	probably damaging	Het
Cers4	G	A	8: 4,523,461	W319*	probably null	Het
Col27a1	T	A	4: 63,283,893		probably null	Het
Crnkl1	G	A	2: 145,928,200	A241V	probably damaging	Het
Cyp2c68	T	C	19: 39,712,528	Y282C	probably benign	Het
Dmd	T	A	X: 83,830,517	I1342N	probably damaging	Het
Dusp7	T	A	9: 106,370,829	C219S	probably benign	Het
Epha7	A	G	4: 28,950,474	N759S	probably damaging	Het
Fat1	T	C	8: 45,033,926	V3413A	probably benign	Het
Gls2	A	G	10: 128,209,362	H576R	probably benign	Het
Grasp	T	C	15: 101,224,500	Y67H	probably benign	Het
Hap1	A	G	11: 100,352,279	V174A	probably damaging	Het
Il12rb2	A	G	6: 67,292,316	S838P	probably damaging	Het
Ints8	T	C	4: 11,221,150	I742V	probably benign	Het
Katnal2	G	T	18: 76,980,011	S411R	probably benign	Het
Lrp1	A	C	10: 127,567,431	V2091G	probably damaging	Het
Mettl21c	A	T	1: 44,017,208	D20E	probably damaging	Het
Mib1	A	T	18: 10,812,077	E991D	possibly damaging	Het
Mip	T	C	10: 128,225,903	S8P	possibly damaging	Het
Mllt6	T	C	11: 97,677,222	S826P	probably damaging	Het
Mlst8	AT	ATT	17: 24,478,013		probably null	Het
Myrfl	C	T	10: 116,822,811	V414I	probably benign	Het
Nbeal1	T	C	1: 60,234,840	V409A	probably damaging	Het
Nin	T	A	12: 70,030,926	Q1035L	probably damaging	Het
Nlgn1	T	A	3: 25,436,300	D421V	probably damaging	Het
Nlrp10	A	G	7: 108,924,563	V570A	probably benign	Het
Olfm3	A	T	3: 115,101,940	E157V	probably null	Het
Olfr938	T	A	9: 39,078,284	I154F	probably benign	Het
Olfr970	T	C	9: 39,820,067	S143P	probably benign	Het
Otud7a	A	G	7: 63,650,876	D21G	probably damaging	Het
Pax2	A	G	19: 44,788,832	T155A	probably benign	Het
Pcf11	A	T	7: 92,661,338	S481T	probably damaging	Het
Prkab2	T	C	3: 97,666,627	V194A	probably benign	Het
Prl3a1	G	A	13: 27,270,153	G38E	possibly damaging	Het
Psmb8	T	C	17: 34,200,910	V246A	probably damaging	Het
Ptpn12	A	T	5: 20,998,310	V490E	probably benign	Het
Ptprm	A	T	17: 66,940,580	S587T	probably benign	Het
Qars	G	A	9: 108,513,181	R427H	probably benign	Het
R3hdml	T	C	2: 163,498,296	F128L	probably benign	Het
Rapgef4	A	G	2: 72,208,127	M541V	probably benign	Het
Rhbdf1	G	A	11: 32,214,277	R234*	probably null	Het
Rufy1	A	T	11: 50,406,406	D406E	probably benign	Het
Satb1	A	T	17: 51,740,145	L683Q	probably damaging	Het
Satb2	T	C	1: 56,899,070	T132A	probably damaging	Het
Sbspon	A	G	1: 15,860,295	S156P	probably damaging	Het
Shb	A	T	4: 45,458,347		probably null	Het
She	A	G	3: 89,849,485	K282R	possibly damaging	Het
Slc25a13	A	G	6: 6,152,482	L85P	probably damaging	Het
Slc7a13	A	T	4: 19,841,578	H475L	probably benign	Het
Sorl1	C	T	9: 42,046,624	V575I	probably benign	Het
Spag9	T	A	11: 94,097,358	C833S	possibly damaging	Het
Speer2	A	C	16: 69,857,164	N232K	probably damaging	Het
Syncrip	A	T	9: 88,476,874	M194K	probably damaging	Het
Sytl3	A	C	17: 6,728,333	T171P	probably damaging	Het
Taar7f	T	A	10: 24,049,849	Y114N	probably damaging	Het
Tap1	C	G	17: 34,193,507	P506R	probably damaging	Het
Tle6	T	C	10: 81,595,485	D212G	possibly damaging	Het
Trim80	G	T	11: 115,441,329	E116*	probably null	Het
Ttll4	A	G	1: 74,687,559	R745G	probably damaging	Het
Vdac2	A	T	14: 21,837,879	I85F	possibly damaging	Het
Vmn1r188	A	G	13: 22,088,139	R88G	probably damaging	Het
Washc2	T	C	6: 116,255,091	S821P	possibly damaging	Het
Wdhd1	T	C	14: 47,270,190	Y213C	probably damaging	Het
Wdr55	C	A	18: 36,760,384	P33Q	probably damaging	Het
Yrdc	C	T	4: 124,851,946	A32V	probably benign	Het
Zfp608	T	A	18: 54,897,779	K1030*	probably null	Het
Zfp618	T	A	4: 63,132,318		probably null	Het

Other mutations in Gm4884

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00429:Gm4884	APN	7	41044385	missense	probably benign	0.22
IGL00980:Gm4884	APN	7	41043726	missense	probably damaging	1.00
IGL02230:Gm4884	APN	7	41043405	missense	probably damaging	1.00
IGL03271:Gm4884	APN	7	41043275	missense	probably benign	0.33
IGL03274:Gm4884	APN	7	41044545	missense	probably damaging	1.00
R0013:Gm4884	UTSW	7	41044292	missense	probably damaging	1.00
R0139:Gm4884	UTSW	7	41042963	missense	probably benign	0.00
R0179:Gm4884	UTSW	7	41043828	missense	probably benign	0.26
R0960:Gm4884	UTSW	7	41042808	missense	possibly damaging	0.55
R1167:Gm4884	UTSW	7	41043912	missense	possibly damaging	0.92
R1311:Gm4884	UTSW	7	41043115	missense	possibly damaging	0.73
R1466:Gm4884	UTSW	7	41043128	missense	probably damaging	0.96
R1466:Gm4884	UTSW	7	41043128	missense	probably damaging	0.96
R1581:Gm4884	UTSW	7	41043831	missense	probably benign	0.09
R1622:Gm4884	UTSW	7	41042841	missense	probably damaging	0.99
R1891:Gm4884	UTSW	7	41043115	missense	possibly damaging	0.73
R2198:Gm4884	UTSW	7	41040805	missense	probably benign
R2209:Gm4884	UTSW	7	41043321	missense	possibly damaging	0.47
R2210:Gm4884	UTSW	7	41043546	missense	possibly damaging	0.72
R2219:Gm4884	UTSW	7	41043486	missense	possibly damaging	0.75
R3688:Gm4884	UTSW	7	41043486	missense	possibly damaging	0.75
R4437:Gm4884	UTSW	7	41043090	missense	probably damaging	0.97
R4472:Gm4884	UTSW	7	41043263	missense	probably benign	0.35
R5137:Gm4884	UTSW	7	41042894	missense	probably damaging	0.99
R5700:Gm4884	UTSW	7	41043219	missense	probably benign	0.22
R5875:Gm4884	UTSW	7	41042936	missense	possibly damaging	0.75
R6479:Gm4884	UTSW	7	41040787	missense	probably damaging	0.99
R6659:Gm4884	UTSW	7	41044622	missense	probably damaging	1.00
R7180:Gm4884	UTSW	7	41044209	missense	possibly damaging	0.89
R7844:Gm4884	UTSW	7	41040698	missense	probably benign	0.11
R8153:Gm4884	UTSW	7	41043158	missense	probably benign	0.17
R8436:Gm4884	UTSW	7	41043386	missense	probably damaging	0.97
RF013:Gm4884	UTSW	7	41040809	missense	probably damaging	1.00
Z1088:Gm4884	UTSW	7	41042876	missense	possibly damaging	0.71
Z1177:Gm4884	UTSW	7	41032737	start gained	probably benign

Predicted Primers

PCR Primer
(F):5'- ATCCAGACCTGCTTCTAGAAAG -3'
(R):5'- TACCTTGTTCCTGGCAGCAG -3'

Sequencing Primer
(F):5'- TCCCTGGCTTTACGCAGG -3'
(R):5'- CTTGTTCCTGGCAGCAGAAACAAG -3'

Posted On

2014-08-01