Mutagenetix > Incidental Mutation

Incidental Mutation 'R3773:Gm6614'

273431

Institutional Source

Beutler Lab

Gene Symbol

Gm6614

Ensembl Gene

ENSMUSG00000079263

Gene Name

predicted gene 6614

Synonyms

MMRRC Submission

040749-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.069) question?

Stock #

R3773 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

141971845-142011414 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 141972335 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Lysine to Arginine at position 605 (K605R)

Ref Sequence

ENSEMBL: ENSMUSP00000137696 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000111832] [ENSMUST00000181628] [ENSMUST00000181791]

AlphaFold

M0QWR8

Predicted Effect

probably benign
Transcript: ENSMUST00000111832
AA Change: K605R

PolyPhen 2 Score 0.165 (Sensitivity: 0.92; Specificity: 0.87)

SMART Domains

Protein: ENSMUSP00000107463
Gene: ENSMUSG00000079263
AA Change: K605R

Domain	Start	End	E-Value	Type
Pfam:OATP	1	577	2.5e-156	PFAM
Pfam:MFS_1	125	402	1e-23	PFAM
Pfam:Kazal_2	425	466	4.1e-9	PFAM
transmembrane domain	580	602	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000181628
AA Change: K625R

PolyPhen 2 Score 0.165 (Sensitivity: 0.92; Specificity: 0.87)

SMART Domains

Protein: ENSMUSP00000137967
Gene: ENSMUSG00000079263
AA Change: K625R

Domain	Start	End	E-Value	Type
Pfam:OATP	19	598	2.8e-187	PFAM
Pfam:MFS_1	145	422	8e-24	PFAM
Pfam:Kazal_2	445	486	1.1e-7	PFAM
transmembrane domain	600	622	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000181791
AA Change: K605R

PolyPhen 2 Score 0.165 (Sensitivity: 0.92; Specificity: 0.87)

SMART Domains

Protein: ENSMUSP00000137696
Gene: ENSMUSG00000079263
AA Change: K605R

Domain	Start	End	E-Value	Type
Pfam:OATP	1	578	2.3e-186	PFAM
Pfam:MFS_1	125	402	8.6e-24	PFAM
Pfam:Kazal_2	425	466	1.4e-7	PFAM
transmembrane domain	580	602	N/A	INTRINSIC

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.3%
20x: 95.2%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 69 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700061G19Rik	T	C	17: 56,876,262	M1T	probably null	Het
1810041L15Rik	A	T	15: 84,406,685	Y120*	probably null	Het
A2ml1	T	A	6: 128,555,083	K899N	probably benign	Het
Adgrv1	G	A	13: 81,499,043	S3126L	probably damaging	Het
Apba3	C	A	10: 81,272,609		probably null	Het
Apobec4	G	T	1: 152,756,805	A195S	probably benign	Het
Asap3	C	T	4: 136,227,575	T72I	probably benign	Het
BC067074	A	G	13: 113,318,209	E263G	probably benign	Het
Cand2	T	A	6: 115,785,217	H201Q	probably damaging	Het
Cd109	CATTTATTTATTTATTTATTTATTTATTTATTTAT	CATTTATTTATTTATTTATTTATTTATTTATTTATTTAT	9: 78,712,500		probably benign	Het
Chd1	A	G	17: 17,374,651	D16G	probably damaging	Het
Csgalnact2	T	C	6: 118,126,219	K19E	probably benign	Het
Cyp17a1	T	G	19: 46,669,723	K250T	probably damaging	Het
Ddx41	G	A	13: 55,534,480	R205W	possibly damaging	Het
Dgcr8	T	C	16: 18,256,775	D712G	probably damaging	Het
Dsg2	T	C	18: 20,591,862	W442R	probably damaging	Het
Elavl2	C	T	4: 91,264,088	G131R	probably damaging	Het
Elf1	T	C	14: 79,567,210	V105A	possibly damaging	Het
Ercc6l2	A	G	13: 63,841,450	D270G	probably damaging	Het
Fmn1	T	G	2: 113,582,118	S996A	probably damaging	Het
Frmd4a	A	T	2: 4,590,622	E109D	probably damaging	Het
Fry	A	T	5: 150,398,198	R999S	probably damaging	Het
Gak	G	A	5: 108,582,672	T956I	probably benign	Het
Gm9008	C	T	6: 76,496,959	V225I	probably benign	Het
Gps2	T	C	11: 69,916,101	F21L	probably damaging	Het
Grhl3	C	T	4: 135,555,847	W303*	probably null	Het
Hmcn2	C	T	2: 31,360,896	T790M	probably damaging	Het
Lrp5	G	A	19: 3,612,330	R173C	probably damaging	Het
Matk	T	A	10: 81,258,297	L21Q	probably benign	Het
Mthfr	T	C	4: 148,044,450	V160A	probably benign	Het
Nhlrc4	T	A	17: 25,943,393	K127*	probably null	Het
Nsd1	G	A	13: 55,246,673	V696I	probably benign	Het
Nup210l	T	G	3: 90,119,894	Y194*	probably null	Het
Olfr1497	T	A	19: 13,795,204	M136L	probably benign	Het
Olfr345	A	T	2: 36,640,321	Y94F	probably benign	Het
Olfr57	G	A	10: 79,035,180	C128Y	possibly damaging	Het
Olfr90	G	T	17: 37,086,065	Y33*	probably null	Het
Pcdhb15	T	A	18: 37,475,890	V725D	probably benign	Het
Pes1	A	G	11: 3,975,548	Y221C	probably damaging	Het
Prkd3	T	C	17: 78,959,106	I603V	possibly damaging	Het
Ptpn13	A	G	5: 103,477,121	E97G	probably damaging	Het
Ptpro	T	A	6: 137,443,594	V1007D	probably damaging	Het
Ptprs	T	C	17: 56,428,978	T152A	possibly damaging	Het
Rims1	T	C	1: 22,421,810	D842G	probably damaging	Het
Rin2	C	T	2: 145,860,446	T354I	probably benign	Het
Rngtt	T	C	4: 33,330,889	I164T	probably damaging	Het
Scn9a	T	C	2: 66,483,648	N1909D	probably benign	Het
Ska3	C	T	14: 57,810,077	V334I	probably benign	Het
Srebf2	A	G	15: 82,182,108	K579R	probably benign	Het
Stxbp5	G	A	10: 9,768,927	T960I	probably damaging	Het
Suco	A	T	1: 161,843,996		probably null	Het
Tecta	T	C	9: 42,330,996	T2094A	probably damaging	Het
Tenm4	A	T	7: 96,694,880	R227W	probably damaging	Het
Tmem131l	A	G	3: 83,898,586	S1517P	probably damaging	Het
Trio	A	G	15: 27,748,091	S2492P	probably damaging	Het
Tsg101	T	C	7: 46,889,615	*254W	probably null	Het
Ttn	T	C	2: 76,771,367	T16872A	probably benign	Het
Ugt2b38	A	G	5: 87,424,095	V26A	probably damaging	Het
Upb1	T	A	10: 75,439,838		probably null	Het
Vmn1r32	T	A	6: 66,553,367	I142F	probably benign	Het
Vmn1r60	C	A	7: 5,544,711	C130F	possibly damaging	Het
Vmn2r101	A	G	17: 19,589,657	D235G	probably benign	Het
Wnk1	C	T	6: 120,002,280	R282Q	possibly damaging	Het
Xrn2	T	C	2: 147,061,287	V765A	probably benign	Het
Zbed4	T	C	15: 88,780,847	S373P	probably benign	Het
Zfp251	A	G	15: 76,853,636	I414T	possibly damaging	Het
Zfp423	A	T	8: 87,780,512	L1047Q	probably benign	Het
Zfp426	A	T	9: 20,473,117		probably null	Het
Zfp61	T	C	7: 24,295,981	M1V	probably null	Het

Other mutations in Gm6614

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01354:Gm6614	APN	6	141990408	missense	probably benign	0.00
IGL01548:Gm6614	APN	6	141992512	missense	possibly damaging	0.82
IGL01552:Gm6614	APN	6	141987706	missense	possibly damaging	0.54
IGL02207:Gm6614	APN	6	141990432	missense	possibly damaging	0.80
IGL02227:Gm6614	APN	6	141993675	nonsense	probably null
IGL02547:Gm6614	APN	6	141990390	missense	probably damaging	0.99
IGL02678:Gm6614	APN	6	142008718	missense	probably damaging	1.00
IGL02695:Gm6614	APN	6	141987760	missense	probably damaging	1.00
IGL02851:Gm6614	APN	6	142003471	missense	probably damaging	1.00
IGL02881:Gm6614	APN	6	141972243	missense	probably benign	0.00
IGL02898:Gm6614	APN	6	141994297	missense	probably benign	0.01
IGL03036:Gm6614	APN	6	142008607	missense	possibly damaging	0.69
IGL03065:Gm6614	APN	6	141992502	missense	probably damaging	0.99
IGL03300:Gm6614	APN	6	141994806	missense	probably damaging	0.96
R0020:Gm6614	UTSW	6	141972350	missense	possibly damaging	0.93
R0020:Gm6614	UTSW	6	141972350	missense	possibly damaging	0.93
R0049:Gm6614	UTSW	6	141990421	missense	probably benign
R0049:Gm6614	UTSW	6	141990421	missense	probably benign
R0149:Gm6614	UTSW	6	141992477	missense	probably benign	0.01
R0270:Gm6614	UTSW	6	141972411	missense	possibly damaging	0.88
R0360:Gm6614	UTSW	6	141982327	splice site	probably benign
R0420:Gm6614	UTSW	6	141985477	splice site	probably benign
R0737:Gm6614	UTSW	6	142003428	missense	possibly damaging	0.79
R1344:Gm6614	UTSW	6	141985618	missense	probably damaging	1.00
R1464:Gm6614	UTSW	6	141992517	nonsense	probably null
R1464:Gm6614	UTSW	6	141992517	nonsense	probably null
R1590:Gm6614	UTSW	6	141980872	missense	probably benign	0.00
R1666:Gm6614	UTSW	6	141982049	splice site	probably null
R1669:Gm6614	UTSW	6	141987689	missense	probably benign	0.39
R1862:Gm6614	UTSW	6	142003423	missense	possibly damaging	0.95
R1882:Gm6614	UTSW	6	141993637	critical splice donor site	probably null
R2134:Gm6614	UTSW	6	141980978	missense	probably damaging	1.00
R2155:Gm6614	UTSW	6	141980944	missense	probably damaging	1.00
R2163:Gm6614	UTSW	6	141980938	missense	possibly damaging	0.55
R2227:Gm6614	UTSW	6	141992361	missense	possibly damaging	0.67
R2382:Gm6614	UTSW	6	141990480	missense	probably benign	0.00
R4869:Gm6614	UTSW	6	141987766	missense	probably damaging	1.00
R4975:Gm6614	UTSW	6	141980873	missense	probably benign	0.30
R5061:Gm6614	UTSW	6	142008688	missense	probably benign	0.03
R5079:Gm6614	UTSW	6	141972347	missense	probably benign	0.00
R5312:Gm6614	UTSW	6	141972332	missense	probably benign	0.00
R5691:Gm6614	UTSW	6	141994855	nonsense	probably null
R5874:Gm6614	UTSW	6	141972235	missense	probably benign	0.00
R5945:Gm6614	UTSW	6	141994282	missense	probably damaging	1.00
R6478:Gm6614	UTSW	6	141993642	missense	possibly damaging	0.93
R7305:Gm6614	UTSW	6	141992494	missense	probably damaging	1.00
R7325:Gm6614	UTSW	6	141989225	missense	probably damaging	0.98
R7427:Gm6614	UTSW	6	142003508	critical splice acceptor site	probably null
R7728:Gm6614	UTSW	6	141987710	nonsense	probably null
R7949:Gm6614	UTSW	6	141994265	missense	probably damaging	1.00
R8079:Gm6614	UTSW	6	141987734	missense	probably benign	0.00
R8095:Gm6614	UTSW	6	141987689	missense	probably benign	0.39
R8472:Gm6614	UTSW	6	142003389	missense	probably damaging	1.00
R8687:Gm6614	UTSW	6	141994265	missense	probably damaging	0.98
R8788:Gm6614	UTSW	6	141987844	missense	probably benign	0.00
R8869:Gm6614	UTSW	6	141982084	missense	probably damaging	0.96
R9162:Gm6614	UTSW	6	141993727	missense	probably damaging	1.00
R9262:Gm6614	UTSW	6	141980868	missense	probably damaging	0.98
R9280:Gm6614	UTSW	6	141994252	missense	possibly damaging	0.80
R9398:Gm6614	UTSW	6	141994785	missense	possibly damaging	0.95
R9600:Gm6614	UTSW	6	142003508	critical splice acceptor site	probably null
RF021:Gm6614	UTSW	6	142008714	missense	probably damaging	0.98
Z1176:Gm6614	UTSW	6	141990348	missense	probably benign	0.01
Z1177:Gm6614	UTSW	6	141994202	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- CTGTTCATGGCCTTGCACAG -3'
(R):5'- CCAAGTGCTAGACATGCAGAG -3'

Sequencing Primer
(F):5'- CAGGGCAGTAGAAAACTCTTTAC -3'
(R):5'- AGACATGCAGAGTATGGTGTTCCC -3'

Posted On

2015-03-25