Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL03052:5830411N06Rik'

392185

Institutional Source

Beutler Lab

Gene Symbol

5830411N06Rik

Ensembl Gene

ENSMUSG00000054672

Gene Name

RIKEN cDNA 5830411N06 gene

Synonyms

Scart2

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

IGL03052 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

140247284-140300736 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 140248914 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Cysteine to Tyrosine at position 162 (C162Y)

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

probably damaging
Transcript: ENSMUST00000093984
AA Change: C162Y

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000091520
Gene: ENSMUSG00000054672
AA Change: C162Y

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: C162Y

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000131905
Gene: ENSMUSG00000054672
AA Change: C162Y

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

Meta Mutation Damage Score

0.2840

Coding Region Coverage

1x: 0.0%
3x: 0.0%
10x: 0.0%
20x: 0.0%

Validation Efficiency

100% (53/53)

Allele List at MGI

Other mutations in this stock

Total: 56 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930451G09Rik	A	T	16: 4,977,494		noncoding transcript	Het
Acap3	T	C	4: 155,903,358	F517S	probably damaging	Het
Afap1l1	A	G	18: 61,748,823	V267A	probably benign	Het
Asap1	A	G	15: 64,153,834		probably benign	Het
Bcl6	T	C	16: 23,975,038		probably benign	Het
Ccdc73	C	A	2: 104,951,936	H212Q	possibly damaging	Het
Cct5	A	T	15: 31,597,487	H85Q	probably damaging	Het
Cfap69	A	C	5: 5,589,206	L238R	probably damaging	Het
Chl1	A	T	6: 103,691,667	T470S	probably benign	Het
Cnga4	T	C	7: 105,404,725	S12P	probably benign	Het
Cyp2c29	C	T	19: 39,287,218	T34M	possibly damaging	Het
Cyp2c67	T	C	19: 39,648,885	D49G	possibly damaging	Het
Dab2ip	A	G	2: 35,643,897	Q45R	probably benign	Het
Ddhd1	A	G	14: 45,620,783	V164A	probably damaging	Het
Dnah7c	A	G	1: 46,632,149	Y1566C	probably damaging	Het
Dnase1l2	T	C	17: 24,440,994		probably benign	Het
Dock2	G	T	11: 34,232,853	N1593K	probably benign	Het
Dpp6	G	T	5: 27,709,508	M530I	probably benign	Het
Epm2a	T	C	10: 11,457,230	V269A	possibly damaging	Het
Fcna	G	C	2: 25,630,681		probably benign	Het
Fgf2	A	G	3: 37,349,012	S55G	probably benign	Het
Frem3	C	T	8: 80,614,530	P1151S	probably damaging	Het
Gm12666	A	G	4: 92,191,050	L178P	probably benign	Het
Gm15737	T	C	6: 92,869,500		probably benign	Het
Gm1840	T	A	8: 5,639,816		noncoding transcript	Het
Gm4759	T	C	7: 106,423,695		noncoding transcript	Het
Hoxa3	G	A	6: 52,170,287		probably benign	Het
Macf1	T	C	4: 123,387,395	I3770V	probably damaging	Het
Mapk15	G	T	15: 75,993,882	R8L	probably benign	Het
Mecom	C	T	3: 29,960,963		probably benign	Het
Mknk2	C	T	10: 80,669,662	R154H	probably benign	Het
Mrgprb3	A	T	7: 48,643,593	V70E	possibly damaging	Het
Mtdh	A	G	15: 34,140,730	K570E	possibly damaging	Het
Myo5c	G	T	9: 75,252,516		probably benign	Het
Myom2	T	C	8: 15,123,442		probably benign	Het
Olfr1489	T	C	19: 13,633,726	I205T	probably benign	Het
Olfr553	C	T	7: 102,614,449	R180Q	probably benign	Het
Olfr843	A	T	9: 19,248,642	Y252*	probably null	Het
Pcca	A	T	14: 122,887,101	M695L	probably benign	Het
Pcdha2	A	T	18: 36,941,617	D767V	probably damaging	Het
Plekhs1	G	A	19: 56,470,757	D16N	probably benign	Het
Prr11	T	C	11: 87,103,652	N56S	possibly damaging	Het
Rxfp2	A	T	5: 150,043,180		probably benign	Het
Sacs	G	T	14: 61,207,858	G2451V	probably damaging	Het
Scarb1	G	A	5: 125,294,099	A4V	probably damaging	Het
Sik3	C	A	9: 46,198,149	T475K	probably damaging	Het
Slco1b2	A	T	6: 141,648,585	I59L	probably benign	Het
Sspo	G	A	6: 48,460,453	G1382R	probably damaging	Het
Stx16	C	A	2: 174,092,438	P145T	probably benign	Het
Tnrc18	G	A	5: 142,775,219	A674V	unknown	Het
Uqcrq	A	G	11: 53,430,649	V14A	possibly damaging	Het
Vmn2r79	A	T	7: 87,003,591	E497V	probably benign	Het
Vps8	T	A	16: 21,448,365	I166K	probably damaging	Het
Vwa8	A	G	14: 79,064,921	D1010G	probably benign	Het
Wnk1	T	A	6: 119,944,799		probably benign	Het
Zfand3	T	A	17: 30,060,824	M29K	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
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
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
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

Predicted Primers

PCR Primer
(F):5'- TTGGACAATGACTCAGGGTG -3'
(R):5'- GTGCATACAACCTGGGTGTAG -3'

Sequencing Primer
(F):5'- CAATGACTCAGGGTGGGGTAGTC -3'
(R):5'- TAGGTCAGAAGGTCACATTGCTCC -3'

Posted On

2016-06-09