Mutagenetix > Incidental Mutations

Incidental Mutation 'IGL01552:Gm6614'

90593

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Gm6614

Ensembl Gene

ENSMUSG00000079263

Gene Name

predicted gene 6614

Synonyms

Accession Numbers

Is this an essential gene?

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

Stock #

IGL01552

Quality Score

Status

Chromosome

Chromosomal Location

141971845-142011414 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 141987706 bp

Zygosity

Heterozygous

Amino Acid Change

Lysine to Arginine at position 451 (K451R)

Ref Sequence

ENSEMBL: ENSMUSP00000137696 (fasta)

Gene Model

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

Predicted Effect

possibly damaging
Transcript: ENSMUST00000111832
AA Change: K451R

PolyPhen 2 Score 0.543 (Sensitivity: 0.88; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000107463
Gene: ENSMUSG00000079263
AA Change: K451R

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

noncoding transcript
Transcript: ENSMUST00000158991

Predicted Effect

possibly damaging
Transcript: ENSMUST00000181628
AA Change: K471R

PolyPhen 2 Score 0.543 (Sensitivity: 0.88; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000137967
Gene: ENSMUSG00000079263
AA Change: K471R

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: K451R

PolyPhen 2 Score 0.543 (Sensitivity: 0.88; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000137696
Gene: ENSMUSG00000079263
AA Change: K451R

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

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 31 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
5330417C22Rik	A	G	3: 108,481,312	W252R	possibly damaging	Het
Arl8a	T	C	1: 135,152,868		probably null	Het
Bivm	A	G	1: 44,126,773	N128D	probably benign	Het
Chil3	C	A	3: 106,148,848	G330V	probably damaging	Het
Dscaml1	A	G	9: 45,447,908	H155R	probably damaging	Het
Etl4	T	A	2: 20,778,189	V687D	probably damaging	Het
Fbxw10	A	T	11: 62,857,684		probably null	Het
Gfpt2	G	T	11: 49,805,005	E21*	probably null	Het
Gm10197	C	T	19: 53,371,691	V26I	possibly damaging	Het
Gm4788	A	G	1: 139,739,302	Y412H	probably damaging	Het
Golim4	T	C	3: 75,956,195	E35G	probably damaging	Het
Igdcc4	A	G	9: 65,122,502		probably benign	Het
Ino80d	A	G	1: 63,057,977		probably benign	Het
Ipo13	A	G	4: 117,900,964	M734T	probably benign	Het
Klk1b27	C	T	7: 44,054,615	L61F	probably damaging	Het
Lamtor5	T	C	3: 107,279,008	V31A	probably benign	Het
Lrp1	A	T	10: 127,588,510	L769*	probably null	Het
Nipsnap1	A	T	11: 4,889,124	S135C	probably damaging	Het
Olfr1277	C	A	2: 111,269,912	G152C	probably damaging	Het
Pparg	A	T	6: 115,490,122	H452L	probably benign	Het
Rab34	C	T	11: 78,191,438	A202V	probably damaging	Het
Ryr3	T	A	2: 112,825,883	T1923S	possibly damaging	Het
Sall4	A	G	2: 168,756,123	S266P	probably damaging	Het
Sh2d4b	T	C	14: 40,860,648	Q195R	probably benign	Het
Sik2	C	A	9: 50,917,522		probably benign	Het
Slc25a36	A	G	9: 97,079,233	V111A	probably benign	Het
Sptbn5	A	T	2: 120,054,422		probably benign	Het
Tac2	G	A	10: 127,726,101	E25K	possibly damaging	Het
Tnc	A	G	4: 63,970,408	V1807A	probably damaging	Het
Top3b	T	C	16: 16,887,823		probably benign	Het
Zfp827	A	G	8: 79,076,191	E464G	probably damaging	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
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
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
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

Posted On

2013-12-09