Mutagenetix > Incidental Mutation

Incidental Mutation 'R5583:5830411N06Rik'

438572

Institutional Source

Beutler Lab

Gene Symbol

5830411N06Rik

Ensembl Gene

ENSMUSG00000054672

Gene Name

RIKEN cDNA 5830411N06 gene

Synonyms

Scart2

MMRRC Submission

043137-MU

Accession Numbers

Is this an essential gene?

Non essential (E-score: 0.000) question?

Stock #

R5583 (G1)

Quality Score

196

Status

Validated

Chromosome

Chromosomal Location

140247284-140300736 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 140296826 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Cysteine to Tyrosine at position 710 (C710Y)

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: C594Y

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

SMART Domains

Protein: ENSMUSP00000091520
Gene: ENSMUSG00000054672
AA Change: C594Y

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: C710Y

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

SMART Domains

Protein: ENSMUSP00000131905
Gene: ENSMUSG00000054672
AA Change: C710Y

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

Meta Mutation Damage Score

0.5856

Coding Region Coverage

1x: 99.9%
3x: 99.6%
10x: 98.4%
20x: 95.4%

Validation Efficiency

97% (60/62)

Allele List at MGI

Other mutations in this stock

Total: 58 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A1bg	A	T	15: 60,921,234	L8Q	probably damaging	Het
Abca4	T	C	3: 122,148,901	V1681A	probably damaging	Het
Abce1	G	T	8: 79,690,293	A363E	probably benign	Het
Adgrl2	T	C	3: 148,859,164	Y256C	probably damaging	Het
Afm	T	C	5: 90,547,881	C416R	probably damaging	Het
Ahnak	T	A	19: 9,006,917	V1855D	probably damaging	Het
Alb	A	T	5: 90,468,593	H319L	probably benign	Het
Ankrd35	G	T	3: 96,684,903	R835L	probably damaging	Het
Atg2b	T	C	12: 105,649,155	D1014G	possibly damaging	Het
Cdk6	T	A	5: 3,344,436	Y24N	probably damaging	Het
Chd7	T	A	4: 8,752,473	N323K	probably damaging	Het
Cops9	A	T	1: 92,639,767		probably benign	Het
Crybg1	T	C	10: 44,003,510	T561A	probably benign	Het
Dcdc5	T	C	2: 106,365,433		noncoding transcript	Het
Dnah7b	G	T	1: 46,242,199	A2807S	probably benign	Het
Fam149b	A	G	14: 20,363,300	T196A	possibly damaging	Het
Fam217a	C	A	13: 34,910,297	C402F	probably damaging	Het
Fat2	A	T	11: 55,253,889	V4053E	probably benign	Het
Fcgbp	T	C	7: 28,091,579	V755A	probably damaging	Het
Fxr1	C	A	3: 34,068,976	S641R	probably benign	Het
Gata5	A	T	2: 180,334,254	M39K	probably benign	Het
Gon4l	T	A	3: 88,899,971	D1658E	probably damaging	Het
Gpr180	C	T	14: 118,162,698	T426M	probably damaging	Het
Gtf2h3	C	T	5: 124,584,297	T121I	probably benign	Het
Helq	T	C	5: 100,762,593	E1039G	probably damaging	Het
Hibch	T	A	1: 52,901,247	Y192N	probably damaging	Het
Hp1bp3	A	G	4: 138,222,115	I41M	probably damaging	Het
Itpripl2	G	T	7: 118,489,878	P486Q	probably benign	Het
Kcnj6	T	C	16: 94,833,201	D17G	probably benign	Het
Kprp	T	A	3: 92,824,336	Y469F	unknown	Het
Kremen2	T	C	17: 23,742,255	T373A	probably benign	Het
Lgi4	A	G	7: 31,061,137	Y39C	possibly damaging	Het
Lgr5	T	C	10: 115,478,504	D176G	probably benign	Het
Lrp1	T	C	10: 127,588,463	S785G	probably benign	Het
Ltbp1	A	T	17: 75,291,330	Q920L	probably benign	Het
Map2	A	G	1: 66,416,037	E1362G	probably damaging	Het
Nkx2-6	T	C	14: 69,171,823	S8P	probably damaging	Het
Olfr93	T	C	17: 37,151,594	Q126R	probably benign	Het
Pde4dip	C	T	3: 97,747,576	R888Q	possibly damaging	Het
Per1	A	G	11: 69,103,445	H494R	probably damaging	Het
Pira2	A	G	7: 3,842,546	F280L	probably benign	Het
Plekhm3	C	T	1: 64,937,986	W108*	probably null	Het
Ptcd3	A	G	6: 71,902,936	S113P	probably damaging	Het
Scarf1	T	C	11: 75,514,016	L42P	possibly damaging	Het
Skint1	A	C	4: 112,019,056	Q58P	probably damaging	Het
Spata7	A	T	12: 98,669,331	N438I	probably damaging	Het
Spdya	C	A	17: 71,569,131	D164E	probably damaging	Het
Speer3	G	A	5: 13,794,768		probably null	Het
Ssc4d	A	T	5: 135,970,196	L51H	probably damaging	Het
Steap1	A	G	5: 5,740,579	I123T	possibly damaging	Het
Styx	T	A	14: 45,371,026	F147I	possibly damaging	Het
Suv39h2	T	A	2: 3,474,853		probably benign	Het
Tfb2m	A	G	1: 179,545,881	V84A	probably benign	Het
Tlcd1	T	G	11: 78,178,936	V25G	probably benign	Het
Tmem79	T	C	3: 88,332,563	Y280C	probably damaging	Het
Trim5	T	A	7: 104,276,835	N173I	probably damaging	Het
Ttc17	A	T	2: 94,377,682	D194E	probably damaging	Het
Zfp2	T	C	11: 50,900,157	E353G	possibly 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
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
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'- AGTGTGAGGTGTCCACTTGC -3'
(R):5'- GATACCTACCTGAACAGATGACG -3'

Sequencing Primer
(F):5'- TGCTCTGTTCATGTAGTCCAG -3'
(R):5'- TGAACAGATGACGCCTGC -3'

Posted On

2016-10-26