Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02335:5830411N06Rik'

289689

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 #

IGL02335

Quality Score

Status

Chromosome

Chromosomal Location

140247284-140300736 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 140296540 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Tyrosine at position 526 (N526Y)

Ref Sequence

ENSEMBL: ENSMUSP00000091520 (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

probably damaging
Transcript: ENSMUST00000093984
AA Change: N526Y

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000091520
Gene: ENSMUSG00000054672
AA Change: N526Y

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

probably damaging
Transcript: ENSMUST00000164583
AA Change: N642Y

PolyPhen 2 Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000131905
Gene: ENSMUSG00000054672
AA Change: N642Y

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: 45 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A4gnt	C	T	9: 99,620,213	T142I	probably benign	Het
Acaca	A	G	11: 84,214,258	T147A	possibly damaging	Het
Agbl3	A	G	6: 34,799,750	D397G	probably damaging	Het
Ank1	C	T	8: 23,135,638	T1597M	possibly damaging	Het
Arl4d	A	G	11: 101,666,929	T94A	possibly damaging	Het
Cd22	A	G	7: 30,876,134	I161T	probably damaging	Het
Clcn7	C	T	17: 25,146,847	L166F	probably benign	Het
Cnbd1	G	T	4: 19,055,095	N110K	possibly damaging	Het
Col14a1	A	T	15: 55,463,769		probably benign	Het
Col6a6	C	T	9: 105,784,101	V270M	probably damaging	Het
Cox8b	C	A	7: 140,899,077	G42W	probably damaging	Het
Csn1s1	A	T	5: 87,680,845	D275V	probably benign	Het
Cubn	T	A	2: 13,427,834		probably null	Het
Dctn2	T	C	10: 127,275,821		probably benign	Het
Dnm1l	A	G	16: 16,342,740		probably benign	Het
Dpp4	T	C	2: 62,334,644	E687G	probably benign	Het
Fbxw20	T	C	9: 109,223,309	K249E	possibly damaging	Het
Fhl2	C	T	1: 43,128,390	W181*	probably null	Het
G2e3	T	A	12: 51,369,158	M559K	probably benign	Het
Gdap1l1	A	T	2: 163,447,595	Y160F	possibly damaging	Het
Gm1110	T	C	9: 26,881,763	I572M	probably benign	Het
Gm5538	G	A	3: 59,743,605	M49I	probably benign	Het
Gpatch2l	T	A	12: 86,256,937		probably benign	Het
Kcnq4	A	G	4: 120,715,854	L250P	probably damaging	Het
Lamc2	A	T	1: 153,166,216	N57K	probably benign	Het
Lingo1	A	G	9: 56,620,081	L408P	probably damaging	Het
Mmrn1	A	T	6: 60,977,147	N804I	possibly damaging	Het
Mroh7	A	G	4: 106,707,782	L545S	probably damaging	Het
Nup188	T	A	2: 30,323,636		probably null	Het
Olfr1442	T	C	19: 12,674,238	I11T	probably damaging	Het
Olfr1494	A	G	19: 13,749,934	D276G	probably benign	Het
Olfr96	A	G	17: 37,225,326	N67S	probably damaging	Het
Pls1	A	T	9: 95,784,183	N138K	probably benign	Het
Prkch	C	A	12: 73,702,512	N345K	probably benign	Het
Reps1	T	C	10: 18,056,117		probably null	Het
Rrp7a	T	C	15: 83,122,691	E15G	probably benign	Het
Scn1a	T	A	2: 66,277,661	T1557S	possibly damaging	Het
Smtn	T	C	11: 3,526,215	E602G	probably damaging	Het
Syvn1	T	C	19: 6,050,093		probably null	Het
Tbxas1	A	G	6: 39,023,080	D267G	probably damaging	Het
Topbp1	A	G	9: 103,328,523	N787D	probably damaging	Het
Vmn2r22	T	G	6: 123,638,092	S180R	probably damaging	Het
Zfp345	T	A	2: 150,474,543	E48D	possibly damaging	Het
Zfp608	G	A	18: 54,897,437	Q1144*	probably null	Het
Zfp936	T	A	7: 43,187,267	L34Q	probably damaging	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
IGL02150:5830411N06Rik	APN	7	140297859	missense	possibly damaging	0.84
IGL02193:5830411N06Rik	APN	7	140249000	missense	probably benign	0.17
IGL02239:5830411N06Rik	APN	7	140295843	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