Mutagenetix > Incidental Mutation

Incidental Mutation 'R9044:5830411N06Rik'

687920

Institutional Source

Beutler Lab

Gene Symbol

5830411N06Rik

Ensembl Gene

ENSMUSG00000054672

Gene Name

RIKEN cDNA 5830411N06 gene

Synonyms

Scart2

MMRRC Submission

Accession Numbers

Is this an essential gene?

Non essential (E-score: 0.000) question?

Stock #

R9044 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

140247284-140300736 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

G to T at 140248097 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Glycine to Cysteine at position 73 (G73C)

Ref Sequence

ENSEMBL: ENSMUSP00000131905 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000093984] [ENSMUST00000164583]

AlphaFold

B3F5L4

Predicted Effect

probably damaging
Transcript: ENSMUST00000093984
AA Change: G73C

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

SMART Domains

Protein: ENSMUSP00000091520
Gene: ENSMUSG00000054672
AA Change: G73C

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: G73C

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

SMART Domains

Protein: ENSMUSP00000131905
Gene: ENSMUSG00000054672
AA Change: G73C

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

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.5%
20x: 98.1%

Validation Efficiency

95% (62/65)

Allele List at MGI

Other mutations in this stock

Total: 64 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2610008E11Rik	A	T	10: 79,066,480	Y667*	probably null	Het
Acacb	A	G	5: 114,235,517	H1869R	probably benign	Het
Adgrb1	A	G	15: 74,569,899	T950A	possibly damaging	Het
Alms1	T	A	6: 85,696,753	L3110Q	probably damaging	Het
Ambra1	A	T	2: 91,910,089		probably benign	Het
Brpf3	A	T	17: 28,806,897	N315Y	possibly damaging	Het
Cpne7	C	T	8: 123,130,212	P402L	probably damaging	Het
Cyba	T	A	8: 122,424,891	D189V	probably benign	Het
Dexi	A	G	16: 10,503,521		probably benign	Het
Dnah2	C	T	11: 69,529,421	V156I	probably benign	Het
Drc7	T	C	8: 95,070,449	V420A	probably damaging	Het
Eef2k	T	A	7: 120,880,361	V167E	probably damaging	Het
Efcab1	A	G	16: 14,920,397	D142G	probably damaging	Het
Eid2	T	C	7: 28,268,613	I220T	possibly damaging	Het
Fggy	A	C	4: 95,844,097	T442P	probably benign	Het
Foxi3	T	G	6: 70,956,699	S57A	probably benign	Het
Foxi3	T	A	6: 70,957,202		probably null	Het
Galntl5	C	T	5: 25,210,328	P286S	possibly damaging	Het
Gm5592	A	G	7: 41,288,850	K519E	probably benign	Het
Gse1	T	A	8: 120,230,530	S587T	unknown	Het
Kcns1	G	T	2: 164,168,076	F254L	probably damaging	Het
Kif15	A	G	9: 123,011,716	T23A	probably benign	Het
Kif16b	T	C	2: 142,699,657	Q1241R	possibly damaging	Het
Lck	A	T	4: 129,556,305	L205Q	probably damaging	Het
Map9	C	T	3: 82,380,218	A420V	possibly damaging	Het
Mdm2	A	T	10: 117,695,055	D170E		Het
Mllt6	T	A	11: 97,663,659	C30S	probably damaging	Het
Muc5b	T	G	7: 141,858,058	D1580E	unknown	Het
Oaf	C	T	9: 43,224,011	A157T	probably damaging	Het
Olfr136	A	T	17: 38,335,429	T91S	possibly damaging	Het
Olfr324	T	A	11: 58,598,300	N295K	possibly damaging	Het
Olfr525	A	G	7: 140,322,572		probably benign	Het
Osbp2	T	C	11: 3,717,128	I8V	probably damaging	Het
Pcdh9	T	C	14: 93,886,811	Y641C	probably damaging	Het
Phf10	A	T	17: 14,946,322	C429S	probably damaging	Het
Plekha6	C	G	1: 133,273,949	P367A	probably benign	Het
Plekha6	C	A	1: 133,273,950	P367Q	possibly damaging	Het
Plod2	T	A	9: 92,607,220	I756K	probably damaging	Het
Plxnb2	C	A	15: 89,160,363		probably benign	Het
Pop1	T	A	15: 34,530,408	M1014K	possibly damaging	Het
Prrt4	T	C	6: 29,171,541	D304G	probably benign	Het
Rcan2	C	A	17: 43,836,354	L28I	probably benign	Het
Rffl	C	T	11: 82,810,194	V269I	probably benign	Het
Rhox3c	C	T	X: 37,469,650		probably benign	Het
Ric1	C	T	19: 29,599,894	A1066V	probably damaging	Het
Rsf1	ATGGCG	ATGGCGACGGTGGCG	7: 97,579,904		probably benign	Het
Ryr2	A	T	13: 11,738,103	Y1777*	probably null	Het
Sh3tc1	T	G	5: 35,697,490	K1288Q	possibly damaging	Het
Slc10a5	A	C	3: 10,334,732	I289M	probably damaging	Het
Slc16a9	A	G	10: 70,274,967	T128A	probably benign	Het
Slc7a11	T	C	3: 50,379,183	H373R	probably benign	Het
Spesp1	A	G	9: 62,273,341	I95T	probably benign	Het
Sra1	C	T	18: 36,667,893	V131I	probably benign	Het
Stxbp5l	A	G	16: 37,204,568	V556A	possibly damaging	Het
Sycp2	T	C	2: 178,347,824	E1414G	probably damaging	Het
Trac	A	T	14: 54,220,691	K57*	probably null	Het
Trps1	T	C	15: 50,822,607	E724G	probably benign	Het
Tubgcp6	T	G	15: 89,103,194	D1192A	possibly damaging	Het
Usp48	G	A	4: 137,613,685	G332E	probably benign	Het
Vps18	T	G	2: 119,297,553	I952M	probably damaging	Het
Wdr36	T	C	18: 32,837,446	F20S	probably damaging	Het
Wdr62	C	A	7: 30,262,637	R450L	probably benign	Het
Xab2	T	C	8: 3,618,641	K76E	probably benign	Het
Zpr1	A	G	9: 46,279,697	D300G	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
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
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'- GAGCTGTCTAATTTTGAAGCATTCC -3'
(R):5'- GAGCAGGTAATCACAGCCAC -3'

Sequencing Primer
(F):5'- TTTGAAGCATTCCAAATGAAATACAG -3'
(R):5'- CACACTGGCATTTGCAGC -3'

Posted On

2021-11-19