Mutagenetix > Incidental Mutation

Incidental Mutation 'R6478:Gm6614'

516906

Institutional Source

Beutler Lab

Gene Symbol

Gm6614

Ensembl Gene

ENSMUSG00000079263

Gene Name

predicted gene 6614

Synonyms

MMRRC Submission

Accession Numbers

Essential gene?

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

Stock #

R6478 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

141971845-142011414 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 141993642 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Lysine at position 208 (N208K)

Ref Sequence

ENSEMBL: ENSMUSP00000137696 (fasta)

Gene Model

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

AlphaFold

M0QWR8

Predicted Effect

possibly damaging
Transcript: ENSMUST00000111832
AA Change: N208K

PolyPhen 2 Score 0.933 (Sensitivity: 0.80; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000107463
Gene: ENSMUSG00000079263
AA Change: N208K

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

possibly damaging
Transcript: ENSMUST00000181628
AA Change: N228K

PolyPhen 2 Score 0.933 (Sensitivity: 0.80; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000137967
Gene: ENSMUSG00000079263
AA Change: N228K

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

possibly damaging
Transcript: ENSMUST00000181791
AA Change: N208K

PolyPhen 2 Score 0.933 (Sensitivity: 0.80; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000137696
Gene: ENSMUSG00000079263
AA Change: N208K

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: 99.9%
3x: 99.6%
10x: 97.8%
20x: 93.3%

Validation Efficiency

95% (75/79)

Allele List at MGI

Other mutations in this stock

Total: 78 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
3632451O06Rik	A	G	14: 49,773,332	V306A	possibly damaging	Het
9530053A07Rik	C	G	7: 28,155,373	P1808R	probably damaging	Het
Aatk	T	A	11: 120,010,991	S803C	probably benign	Het
Abcc9	C	T	6: 142,679,308	A454T	probably damaging	Het
Abr	T	C	11: 76,452,332	E565G	probably damaging	Het
Adam33	C	A	2: 131,051,346	R753L	probably benign	Het
Adgre1	A	G	17: 57,401,955	T49A	possibly damaging	Het
AI314180	A	T	4: 58,810,785	I1524N	probably damaging	Het
Ankra2	A	T	13: 98,268,442	H153L	probably damaging	Het
Ankrd26	T	G	6: 118,511,638	E1353D	probably benign	Het
Ankrd52	T	G	10: 128,379,331		probably null	Het
Arhgef10l	T	A	4: 140,542,757	T619S	possibly damaging	Het
Asgr1	T	C	11: 70,056,894	V130A	possibly damaging	Het
Atg10	C	A	13: 90,937,347	C161F	probably damaging	Het
Atm	A	T	9: 53,490,254	N1438K	probably damaging	Het
BC107364	T	A	3: 96,436,006		probably null	Het
Bcar3	G	T	3: 122,426,576	A41S	probably benign	Het
Btbd6	A	G	12: 112,977,312		probably benign	Het
Cchcr1	A	G	17: 35,524,703	T318A	possibly damaging	Het
Celsr1	A	T	15: 85,925,518	I2221N	probably damaging	Het
Cept1	C	T	3: 106,533,445	W48*	probably null	Het
Cfap161	T	A	7: 83,793,276	I85L	probably benign	Het
Clasp1	A	T	1: 118,512,180	R640*	probably null	Het
Col5a1	T	A	2: 27,952,436	I441N	unknown	Het
Col9a1	C	A	1: 24,185,405	L223I	unknown	Het
Dnah2	T	C	11: 69,516,010	D223G	probably benign	Het
Dnah8	G	A	17: 30,748,568	D2585N	probably benign	Het
Dpy19l1	A	T	9: 24,450,696	M129K	possibly damaging	Het
Fcrl1	C	A	3: 87,389,639	H318Q	probably benign	Het
Fer1l5	A	G	1: 36,402,531	N609S	probably damaging	Het
Fkbp4	C	T	6: 128,433,231	E256K	probably damaging	Het
Fsip2	A	G	2: 82,990,086	T5388A	possibly damaging	Het
Glrx	G	A	13: 75,847,299		probably null	Het
Gm7356	A	T	17: 14,001,464	M101K	probably damaging	Het
Gstp2	A	T	19: 4,040,499	I162N	probably benign	Het
Hectd3	A	C	4: 116,999,586	K443N	probably damaging	Het
Hmcn1	T	A	1: 150,664,784	R2925W	probably damaging	Het
Hspa1a	G	T	17: 34,970,306	N540K	probably damaging	Het
Ints6	A	T	14: 62,700,786	M649K	probably benign	Het
Katnb1	T	C	8: 95,095,456	V270A	possibly damaging	Het
Kctd3	A	G	1: 188,972,364	S737P	probably benign	Het
Klra10	T	C	6: 130,272,544		probably null	Het
Lmtk3	A	G	7: 45,798,589	D1353G	unknown	Het
Lrrk1	A	G	7: 66,262,733	V1693A	probably damaging	Het
Mpnd	A	T	17: 56,009,575	I85F	probably damaging	Het
Myo3b	A	G	2: 70,348,960	T1173A	probably benign	Het
Myof	G	A	19: 37,903,831	P1158L	probably damaging	Het
Naip2	A	C	13: 100,162,041	S496A	probably benign	Het
Ncor2	A	G	5: 125,110,005		probably benign	Het
Npepps	C	T	11: 97,258,273		probably null	Het
Olfr1247	T	G	2: 89,609,446	I219L	probably damaging	Het
Opn5	T	A	17: 42,580,749	I266F	probably benign	Het
P2rx4	A	G	5: 122,707,700	D16G	probably damaging	Het
Padi2	G	T	4: 140,917,637	V61L	probably benign	Het
Pkd1l1	G	A	11: 8,863,911	T1480I	probably benign	Het
Plcb1	T	C	2: 135,335,451	S568P	probably damaging	Het
Rassf10	A	G	7: 112,955,707	E505G	probably damaging	Het
Rcan2	A	G	17: 43,836,334	E21G	probably benign	Het
Rhob	G	T	12: 8,499,585	C16*	probably null	Het
Ryr3	T	C	2: 112,660,068	N3807S	probably damaging	Het
Sass6	T	A	3: 116,621,397	N519K	probably benign	Het
Smad9	A	T	3: 54,782,443	D28V	probably damaging	Het
Tepp	A	T	8: 95,321,266		probably null	Het
Tex14	G	T	11: 87,514,373	G704C	probably benign	Het
Tmc3	A	G	7: 83,622,316	N892S	probably benign	Het
Tnfaip2	T	A	12: 111,445,663	L166Q	probably damaging	Het
Triml2	A	G	8: 43,185,128		probably null	Het
Trio	A	G	15: 27,856,107	V666A	probably benign	Het
Tshz2	G	T	2: 169,884,664	L393F	probably damaging	Het
Ttn	T	G	2: 76,841,771		probably benign	Het
Tubb5	A	G	17: 35,835,842	Y159H	probably damaging	Het
Umodl1	A	G	17: 30,959,155	Y35C	probably damaging	Het
Utp4	T	C	8: 106,904,446		probably null	Het
Vmn1r60	A	T	7: 5,544,865	C79S	probably damaging	Het
Wnt5b	T	C	6: 119,433,790	T230A	probably damaging	Het
Zfp618	A	T	4: 63,132,706	I575F	probably damaging	Het
Zmym6	G	T	4: 127,123,383	V894L	possibly damaging	Het
Zpbp	T	C	11: 11,462,318		probably benign	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
R3773:Gm6614	UTSW	6	141972335	missense	probably benign	0.17
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
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'- ATGAGCAGTGAGTCCTCATTGAG -3'
(R):5'- AAACAGTTCAATGTCAAGGCC -3'

Sequencing Primer
(F):5'- GCAGTGAGTCCTCATTGAGTAAAAC -3'
(R):5'- CAGTTCAATGTCAAGGCCTGTGTG -3'

Posted On

2018-05-21