Mutagenetix > Incidental Mutation

Incidental Mutation 'R4112:5830411N06Rik'

314459

Institutional Source

Beutler Lab

Gene Symbol

5830411N06Rik

Ensembl Gene

ENSMUSG00000054672

Gene Name

RIKEN cDNA 5830411N06 gene

Synonyms

Scart2

MMRRC Submission

040989-MU

Accession Numbers

Is this an essential gene?

Non essential (E-score: 0.000) question?

Stock #

R4112 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

140247284-140300736 bp(+) (GRCm38)

Type of Mutation

nonsense

DNA Base Change (assembly)

G to T at 140298368 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Glycine to Stop codon at position 1003 (G1003*)

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 null
Transcript: ENSMUST00000093984
AA Change: G887*

SMART Domains

Protein: ENSMUSP00000091520
Gene: ENSMUSG00000054672
AA Change: G887*

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 null
Transcript: ENSMUST00000164583
AA Change: G1003*

SMART Domains

Protein: ENSMUSP00000131905
Gene: ENSMUSG00000054672
AA Change: G1003*

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

0.9755

Coding Region Coverage

1x: 99.2%
3x: 98.7%
10x: 97.6%
20x: 96.3%

Validation Efficiency

97% (56/58)

Allele List at MGI

Other mutations in this stock

Total: 52 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700012B07Rik	G	T	11: 109,794,154	C172*	probably null	Het
Aamp	A	G	1: 74,281,227		probably benign	Het
Abcb4	A	G	5: 8,936,783		probably null	Het
Adam6b	T	A	12: 113,489,636	F24L	possibly damaging	Het
Alms1	G	A	6: 85,620,888	V1368I	probably benign	Het
Angpt2	T	A	8: 18,699,123	Q326L	probably damaging	Het
Armc9	T	A	1: 86,188,939	I327N	possibly damaging	Het
Bace2	A	G	16: 97,436,656	T436A	probably benign	Het
Ccdc162	T	A	10: 41,656,328	E450V	possibly damaging	Het
Ccdc7b	G	T	8: 129,085,227		probably benign	Het
Cdh17	T	C	4: 11,814,628	S728P	probably damaging	Het
Chia1	T	C	3: 106,128,528	L168P	probably damaging	Het
Cnot1	A	C	8: 95,773,618	L111V	probably damaging	Het
Col14a1	A	T	15: 55,363,559	N235I	unknown	Het
Col2a1	A	C	15: 97,983,701	L787R	probably benign	Het
Cyp3a25	A	T	5: 146,003,031	D55E	probably benign	Het
Dennd6a	A	T	14: 26,628,518		probably benign	Het
Dnajc28	G	A	16: 91,616,867	T187M	probably damaging	Het
Etfbkmt	T	C	6: 149,144,591		probably benign	Het
Etfrf1	T	C	6: 145,215,372	Y23H	probably damaging	Het
Gemin4	T	A	11: 76,212,819	E372V	probably damaging	Het
Glyr1	T	C	16: 5,018,486	K500E	possibly damaging	Het
Gm10271	A	T	10: 116,968,038		probably benign	Het
Gm20775	A	T	Y: 10,641,878		noncoding transcript	Het
Gm5578	A	G	6: 112,606,505		noncoding transcript	Het
Gxylt2	A	G	6: 100,783,206	N234S	probably damaging	Het
Kcna6	G	C	6: 126,739,774	R51G	probably damaging	Het
Klf17	A	G	4: 117,760,701	V153A	possibly damaging	Het
L3mbtl2	T	C	15: 81,681,969	V331A	possibly damaging	Het
Med1	A	T	11: 98,180,087	V110E	probably damaging	Het
Nsmaf	A	C	4: 6,417,188	Y535*	probably null	Het
Pcdh10	G	A	3: 45,381,620	V790M	probably damaging	Het
Phlpp1	A	G	1: 106,364,338	T976A	probably damaging	Het
Prelid3a	T	C	18: 67,472,897	Y25H	probably damaging	Het
Ptprk	T	A	10: 28,475,288		probably null	Het
Rbm5	A	T	9: 107,765,597	D79E	probably damaging	Het
Rhox3f	G	T	X: 37,582,019	E140*	probably null	Het
Rnd3	T	A	2: 51,148,230	T78S	possibly damaging	Het
Sgca	T	C	11: 94,972,570	T27A	possibly damaging	Het
Slc10a2	C	T	8: 5,105,135	D17N	probably benign	Het
Snap23	C	T	2: 120,584,375		probably benign	Het
Sptb	T	A	12: 76,597,779	T2098S	probably damaging	Het
Src	T	A	2: 157,463,026	L165H	probably damaging	Het
Srr	G	T	11: 74,913,072	Q20K	probably benign	Het
Stt3b	A	T	9: 115,266,138	F275Y	probably damaging	Het
Sucnr1	C	G	3: 60,086,794	R248G	probably damaging	Het
Thsd7b	A	T	1: 130,116,619	D1112V	probably benign	Het
Tmem80	A	G	7: 141,333,779		probably benign	Het
Top2a	C	A	11: 99,022,960	K18N	probably damaging	Het
Ttc24	T	A	3: 88,074,639	D40V	probably damaging	Het
Vmn2r-ps159	G	T	4: 156,334,397		noncoding transcript	Het
Zfp3	T	A	11: 70,771,507	S97R	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
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
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'- ACAGGACTCCAGTGTTCAGG -3'
(R):5'- GCTCATGACCGGGTAGTTTG -3'

Sequencing Primer
(F):5'- GACTCCAGTGTTCAGGGTTCCAC -3'
(R):5'- GTTTTCCCATTCAGCAGGCACAG -3'

Posted On

2015-05-14