Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02150:5830411N06Rik'

281936

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

5830411N06Rik

Ensembl Gene

ENSMUSG00000054672

Gene Name

RIKEN cDNA 5830411N06 gene

Synonyms

Scart2

Accession Numbers

Is this an essential gene?

Non essential (E-score: 0.000) question?

Stock #

IGL02150

Quality Score

Status

Chromosome

Chromosomal Location

140247284-140300736 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 140297859 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Glycine to Aspartic acid at position 918 (G918D)

Ref Sequence

ENSEMBL: ENSMUSP00000131905 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000093984] [ENSMUST00000164583]

AlphaFold

B3F5L4

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000059882

SMART Domains

Protein: ENSMUSP00000061346
Gene: ENSMUSG00000054672

Domain	Start	End	E-Value	Type
signal peptide	1	24	N/A	INTRINSIC
SR	29	130	1.49e-18	SMART
SR	137	233	2.53e-4	SMART
SR	238	336	1.65e-34	SMART
SR	340	440	4.53e-32	SMART

Predicted Effect

possibly damaging
Transcript: ENSMUST00000093984
AA Change: G802D

PolyPhen 2 Score 0.842 (Sensitivity: 0.83; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000091520
Gene: ENSMUSG00000054672
AA Change: G802D

Domain	Start	End	E-Value	Type
signal peptide	1	24	N/A	INTRINSIC
SR	29	130	1.49e-18	SMART
SR	137	233	2.53e-4	SMART
SR	238	336	1.65e-34	SMART
SR	340	440	4.53e-32	SMART
SR	446	546	8.78e-30	SMART
SR	551	651	1.26e-53	SMART
SR	656	756	2.88e-16	SMART
SR	783	883	7.62e-48	SMART
transmembrane domain	903	925	N/A	INTRINSIC

Predicted Effect

possibly damaging
Transcript: ENSMUST00000164583
AA Change: G918D

PolyPhen 2 Score 0.842 (Sensitivity: 0.83; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000131905
Gene: ENSMUSG00000054672
AA Change: G918D

Domain	Start	End	E-Value	Type
signal peptide	1	24	N/A	INTRINSIC
SR	29	130	1.49e-18	SMART
SR	137	233	2.53e-4	SMART
Blast:SR	291	349	5e-12	BLAST
SR	354	452	1.65e-34	SMART
SR	456	556	4.53e-32	SMART
SR	562	662	8.78e-30	SMART
SR	667	767	1.26e-53	SMART
SR	772	872	2.88e-16	SMART
SR	899	999	7.62e-48	SMART
transmembrane domain	1019	1041	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000210212

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000211749

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 59 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
9530053A07Rik	T	A	7: 28,146,779	Y965*	probably null	Het
AI464131	A	G	4: 41,499,183	V149A	possibly damaging	Het
Ankdd1a	C	T	9: 65,512,719	G92S	probably damaging	Het
Arid1a	A	T	4: 133,687,257	M1221K	unknown	Het
Arl10	G	A	13: 54,578,849	V147M	probably damaging	Het
Bbs4	T	C	9: 59,336,368	N152S	probably benign	Het
Cacna2d2	T	G	9: 107,527,316		probably benign	Het
Capn9	A	G	8: 124,613,843	E582G	probably benign	Het
Cct2	A	T	10: 117,062,099	L61Q	probably damaging	Het
Clip4	A	G	17: 71,799,076	I85V	probably damaging	Het
Daam2	A	T	17: 49,490,304	L151Q	possibly damaging	Het
Dlst	T	A	12: 85,131,033	I400N	possibly damaging	Het
Dock7	A	T	4: 99,079,852		probably benign	Het
Dynlrb2	A	G	8: 116,515,710	N93S	probably benign	Het
Efl1	A	G	7: 82,686,691	T407A	probably benign	Het
Emilin1	A	G	5: 30,920,173	D891G	possibly damaging	Het
Enpp4	A	C	17: 44,102,158	S162A	probably benign	Het
Epas1	A	G	17: 86,805,289	D105G	probably damaging	Het
Gcn1l1	T	A	5: 115,609,868	I1778N	probably damaging	Het
Gm14496	A	C	2: 181,991,347	D41A	probably damaging	Het
Gm7008	T	A	12: 40,223,258		probably benign	Het
Hcfc2	G	A	10: 82,710,018	S246N	probably damaging	Het
Hectd1	T	C	12: 51,769,191	N1366S	probably damaging	Het
Lgmn	T	C	12: 102,395,727	R372G	possibly damaging	Het
Map2k7	A	G	8: 4,243,818	M153V	possibly damaging	Het
Megf8	T	A	7: 25,346,417		probably null	Het
Mgat4c	A	C	10: 102,389,122	E399A	probably benign	Het
Nfat5	C	T	8: 107,367,952	Q942*	probably null	Het
Notch4	A	G	17: 34,584,613	E1502G	probably damaging	Het
Olfr6	G	T	7: 106,956,556	P127T	probably damaging	Het
Olfr895	A	T	9: 38,269,268	I252L	possibly damaging	Het
Optn	A	C	2: 5,033,152	I410M	probably damaging	Het
Ppp1ca	G	A	19: 4,194,699		probably benign	Het
Pramel5	C	A	4: 144,273,201	L105F	possibly damaging	Het
Rad54b	T	A	4: 11,610,502	N706K	probably damaging	Het
Rgs11	A	T	17: 26,202,994	T6S	probably benign	Het
Sbf1	T	C	15: 89,295,480	H1308R	probably benign	Het
Sec31a	T	C	5: 100,386,125		probably benign	Het
Sh2d5	G	A	4: 138,258,242	D334N	probably benign	Het
Skint5	T	A	4: 113,885,791	I360F	unknown	Het
Slc12a1	G	A	2: 125,184,815	D457N	probably damaging	Het
Slco2a1	C	T	9: 103,084,818	A563V	probably damaging	Het
Snrnp35	G	A	5: 124,490,408	A95T	probably damaging	Het
Snx25	C	A	8: 46,116,281	R193L	possibly damaging	Het
Stxbp5	T	G	10: 9,762,821	Q1078P	probably damaging	Het
Tmc2	A	T	2: 130,240,153	I419F	probably damaging	Het
Tmem87a	A	T	2: 120,360,076	W525R	probably damaging	Het
Trhde	A	T	10: 114,592,108	S428T	probably damaging	Het
Trp73	G	A	4: 154,081,486	A42V	possibly damaging	Het
Ttn	T	C	2: 76,848,972		probably benign	Het
Ttn	C	T	2: 76,768,502	V19356M	probably damaging	Het
Vmn1r170	T	A	7: 23,607,040	L289*	probably null	Het
Vwa5b2	A	T	16: 20,604,826	Q1163L	probably benign	Het
Washc2	T	A	6: 116,231,632		probably benign	Het
Wdr70	T	G	15: 8,082,546	K71T	possibly damaging	Het
Zbtb41	T	C	1: 139,440,448	S625P	possibly damaging	Het
Zfp518b	A	G	5: 38,673,789	V291A	probably damaging	Het
Zfp518b	A	G	5: 38,673,343	S440P	probably damaging	Het
Zmym2	G	A	14: 56,911,069		probably benign	Het

Other mutations in 5830411N06Rik

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00465:5830411N06Rik	APN	7	140294842	missense	probably damaging	0.99
IGL01101:5830411N06Rik	APN	7	140296104	missense	probably benign	0.35
IGL01120:5830411N06Rik	APN	7	140296559	missense	probably benign	0.02
IGL01958:5830411N06Rik	APN	7	140274127	missense	probably damaging	1.00
IGL02193:5830411N06Rik	APN	7	140249000	missense	probably benign	0.17
IGL02239:5830411N06Rik	APN	7	140295843	missense	probably damaging	1.00
IGL02335:5830411N06Rik	APN	7	140296540	missense	probably damaging	1.00
IGL02569:5830411N06Rik	APN	7	140298362	missense	probably benign	0.01
IGL02993:5830411N06Rik	APN	7	140296573	missense	probably benign	0.07
IGL03261:5830411N06Rik	APN	7	140294833	missense	probably benign	0.00
IGL03365:5830411N06Rik	APN	7	140296769	missense	probably damaging	1.00
IGL03399:5830411N06Rik	APN	7	140247956	missense	probably benign	0.00
IGL03052:5830411N06Rik	UTSW	7	140248914	missense	probably damaging	1.00
PIT4791001:5830411N06Rik	UTSW	7	140274062	missense	possibly damaging	0.53
R0021:5830411N06Rik	UTSW	7	140296397	missense	probably benign	0.15
R0021:5830411N06Rik	UTSW	7	140296397	missense	probably benign	0.15
R0347:5830411N06Rik	UTSW	7	140297854	missense	probably damaging	1.00
R0374:5830411N06Rik	UTSW	7	140248961	missense	probably damaging	1.00
R0639:5830411N06Rik	UTSW	7	140247959	missense	probably benign	0.01
R0667:5830411N06Rik	UTSW	7	140261537	missense	possibly damaging	0.73
R0789:5830411N06Rik	UTSW	7	140248220	missense	probably damaging	1.00
R0959:5830411N06Rik	UTSW	7	140294791	missense	probably damaging	1.00
R1316:5830411N06Rik	UTSW	7	140299670	missense	probably benign	0.09
R1764:5830411N06Rik	UTSW	7	140297265	missense	probably benign	0.00
R2247:5830411N06Rik	UTSW	7	140249129	missense	probably null	0.96
R2379:5830411N06Rik	UTSW	7	140299769	missense	probably benign	0.15
R4112:5830411N06Rik	UTSW	7	140298368	nonsense	probably null
R4114:5830411N06Rik	UTSW	7	140297910	missense	probably damaging	1.00
R4346:5830411N06Rik	UTSW	7	140247965	missense	probably damaging	0.97
R4836:5830411N06Rik	UTSW	7	140299108	missense	probably benign
R4956:5830411N06Rik	UTSW	7	140298362	missense	probably benign	0.00
R5208:5830411N06Rik	UTSW	7	140298036	missense	probably benign	0.00
R5571:5830411N06Rik	UTSW	7	140249123	missense	probably damaging	1.00
R5583:5830411N06Rik	UTSW	7	140296826	missense	probably damaging	1.00
R5645:5830411N06Rik	UTSW	7	140248940	missense	possibly damaging	0.95
R6183:5830411N06Rik	UTSW	7	140296034	missense	possibly damaging	0.82
R6995:5830411N06Rik	UTSW	7	140261601	missense	probably benign
R7436:5830411N06Rik	UTSW	7	140261607	missense	probably benign
R7621:5830411N06Rik	UTSW	7	140296829	missense	probably damaging	1.00
R7662:5830411N06Rik	UTSW	7	140294812	missense	possibly damaging	0.58
R7669:5830411N06Rik	UTSW	7	140296321	missense	possibly damaging	0.47
R7686:5830411N06Rik	UTSW	7	140249052	missense	probably benign	0.00
R7985:5830411N06Rik	UTSW	7	140296893	missense	probably damaging	1.00
R8330:5830411N06Rik	UTSW	7	140296318	nonsense	probably null
R8843:5830411N06Rik	UTSW	7	140249000	missense	possibly damaging	0.93
R8888:5830411N06Rik	UTSW	7	140261619	missense	possibly damaging	0.93
R8895:5830411N06Rik	UTSW	7	140261619	missense	possibly damaging	0.93
R9044:5830411N06Rik	UTSW	7	140248097	missense	probably damaging	1.00
R9142:5830411N06Rik	UTSW	7	140297893	missense	probably damaging	1.00
R9152:5830411N06Rik	UTSW	7	140297343	missense	possibly damaging	0.55
R9470:5830411N06Rik	UTSW	7	140247432	missense	probably benign	0.07
R9509:5830411N06Rik	UTSW	7	140299731	nonsense	probably null
R9522:5830411N06Rik	UTSW	7	140274074	missense	possibly damaging	0.73
R9755:5830411N06Rik	UTSW	7	140261631	critical splice donor site	probably null
R9794:5830411N06Rik	UTSW	7	140294803	missense	probably damaging	1.00

Posted On

2015-04-16