Mutagenetix > Incidental Mutation

Incidental Mutation 'R0667:5830411N06Rik'

62063

Institutional Source

Beutler Lab

Gene Symbol

5830411N06Rik

Ensembl Gene

ENSMUSG00000054672

Gene Name

RIKEN cDNA 5830411N06 gene

Synonyms

Scart2

MMRRC Submission

038852-MU

Accession Numbers

Is this an essential gene?

Non essential (E-score: 0.000) question?

Stock #

R0667 (G1)

Quality Score

110

Status

Not validated

Chromosome

Chromosomal Location

140247284-140300736 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

C to G at 140261537 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Serine to Arginine at position 251 (S251R)

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 benign
Transcript: ENSMUST00000093984

SMART Domains

Protein: ENSMUSP00000091520
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
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: S251R

PolyPhen 2 Score 0.734 (Sensitivity: 0.85; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000131905
Gene: ENSMUSG00000054672
AA Change: S251R

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

Coding Region Coverage

1x: 99.4%
3x: 98.8%
10x: 97.4%
20x: 94.8%

Validation Efficiency

98% (64/65)

Allele List at MGI

Other mutations in this stock

Total: 56 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca5	G	T	11: 110,327,811	N76K	probably benign	Het
Adamts12	C	T	15: 11,215,624	R244C	probably damaging	Het
Atad2	A	G	15: 58,098,719	S1143P	probably benign	Het
Avl9	G	T	6: 56,736,483	R242L	probably benign	Het
Cand1	A	G	10: 119,216,520	S234P	probably benign	Het
Cd200	T	A	16: 45,394,857	I144L	probably benign	Het
Cep76	A	T	18: 67,634,778	L228Q	possibly damaging	Het
Col12a1	A	G	9: 79,628,462	L2584S	probably damaging	Het
Col6a3	A	C	1: 90,828,101	D155E	probably damaging	Het
Col6a4	G	A	9: 106,029,959		probably benign	Het
Dsg2	A	C	18: 20,573,499	D24A	possibly damaging	Het
Gm5901	G	A	7: 105,377,490	S155N	possibly damaging	Het
Hkdc1	T	C	10: 62,411,865		probably benign	Het
Kansl1	A	G	11: 104,343,538	V714A	probably benign	Het
Kcnh1	T	A	1: 192,506,038	S936T	probably benign	Het
Klhdc3	A	T	17: 46,677,225	F205I	probably benign	Het
Krt31	T	A	11: 100,048,125	H290L	probably benign	Het
Lama2	T	A	10: 27,344,410		probably null	Het
Mep1a	T	G	17: 43,478,190	D565A	probably benign	Het
Mgme1	T	A	2: 144,278,987		probably benign	Het
Mtf2	C	T	5: 108,104,503	T409I	probably damaging	Het
Mylk3	A	G	8: 85,355,165		probably null	Het
Myo1c	A	G	11: 75,668,512	E650G	probably damaging	Het
Nipbl	A	C	15: 8,361,004	D260E	possibly damaging	Het
Nufip2	T	A	11: 77,692,013	V251D	possibly damaging	Het
Olfr1239	T	C	2: 89,417,688	I242V	probably benign	Het
Olfr138	C	A	17: 38,275,157	P129T	probably damaging	Het
Olfr855	T	A	9: 19,585,447	N303K	probably benign	Het
Osm	G	T	11: 4,239,918	R234L	possibly damaging	Het
Pabpc1	G	A	15: 36,598,031	A515V	probably benign	Het
Piwil1	T	A	5: 128,741,478		probably null	Het
Pld1	A	G	3: 28,079,178		probably null	Het
Plekhg3	C	T	12: 76,576,598	R871C	probably damaging	Het
Ppfia2	A	T	10: 106,913,694	Y1147F	probably damaging	Het
Prmt3	A	G	7: 49,791,995	Y240C	probably damaging	Het
Prr36	G	T	8: 4,216,311		probably benign	Het
Ptprd	A	G	4: 75,957,346	I908T	probably damaging	Het
Sae1	A	T	7: 16,368,532	N172K	probably damaging	Het
Satb1	T	G	17: 51,782,861	Q319H	probably damaging	Het
Scn2a	A	T	2: 65,751,996	I1563F	possibly damaging	Het
Scn3a	C	A	2: 65,484,411	R1102L	probably null	Het
Serpinb9b	T	A	13: 33,032,926	L60*	probably null	Het
Setd1a	A	G	7: 127,786,593	D281G	probably damaging	Het
Slc8a1	C	A	17: 81,648,881	V243F	probably damaging	Het
Tgfbr3	A	T	5: 107,177,850	H115Q	probably benign	Het
Tiam1	C	A	16: 89,897,984	S195I	probably damaging	Het
Tjp2	A	G	19: 24,108,749	V803A	probably benign	Het
Ttc5	T	A	14: 50,765,958	Q423L	probably benign	Het
Tyk2	A	C	9: 21,108,871	V997G	probably damaging	Het
Uhrf1	T	C	17: 56,310,677	V133A	probably benign	Het
Vmn2r107	A	C	17: 20,355,654	Y82S	possibly damaging	Het
Vmn2r93	T	C	17: 18,326,241	F792L	probably damaging	Het
Vps13c	G	A	9: 67,951,573	W2768*	probably null	Het
Zfp456	A	T	13: 67,366,742	C282S	probably benign	Het
Zhx1	T	C	15: 58,053,165	N562D	possibly damaging	Het
Zmynd15	G	T	11: 70,465,118	G481C	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
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
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'- ATTCAGACCTTGCTGGGAGGAGAC -3'
(R):5'- TGTGCCATTCCTGAATACAGTCACC -3'

Sequencing Primer
(F):5'- GACTGCTTCGGATACTAGCTACAG -3'
(R):5'- CCTGAATACAGTCACCTATATTTCAC -3'

Posted On

2013-07-30