Mutagenetix > Incidental Mutation

Incidental Mutation 'R7621:5830411N06Rik'

589146

Institutional Source

Beutler Lab

Gene Symbol

5830411N06Rik

Ensembl Gene

ENSMUSG00000054672

Gene Name

RIKEN cDNA 5830411N06 gene

Synonyms

Scart2

MMRRC Submission

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R7621 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

140247284-140300736 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 140296829 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Glycine to Aspartic acid at position 711 (G711D)

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: G595D

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

SMART Domains

Protein: ENSMUSP00000091520
Gene: ENSMUSG00000054672
AA Change: G595D

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: G711D

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

SMART Domains

Protein: ENSMUSP00000131905
Gene: ENSMUSG00000054672
AA Change: G711D

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: 100.0%
10x: 99.7%
20x: 99.1%

Validation Efficiency

100% (45/45)

Allele List at MGI

Other mutations in this stock

Total: 47 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca9	T	A	11: 110,160,533	K112N	probably benign	Het
Brwd1	A	G	16: 96,064,887	S232P	probably damaging	Het
Calm5	A	T	13: 3,854,629	M108L	possibly damaging	Het
Ces1g	A	T	8: 93,328,466	V201D	probably damaging	Het
Cltc	C	A	11: 86,707,486	V1017L	probably benign	Het
Cpt1c	C	T	7: 44,967,092	R245Q	probably damaging	Het
Csrnp1	C	A	9: 119,977,092	A39S	probably benign	Het
Elf1	A	G	14: 79,570,882	D258G	possibly damaging	Het
Fam189a2	A	C	19: 23,994,804	S179A	possibly damaging	Het
Glipr1l1	A	T	10: 112,060,395	D29V	probably benign	Het
Gm4340	T	C	10: 104,195,959	V188A	probably benign	Het
Gsdma2	T	C	11: 98,649,549	M98T	probably benign	Het
Hars	A	T	18: 36,770,423	D315E	probably benign	Het
Hsph1	A	C	5: 149,632,075	Y89D	probably damaging	Het
Ighv11-2	T	A	12: 114,048,388	D69V	probably benign	Het
Kirrel	C	T	3: 87,088,221	G438D	possibly damaging	Het
Krt6a	G	T	15: 101,691,752	T355K	possibly damaging	Het
Lce1m	T	C	3: 93,017,870		probably null	Het
Lmbrd1	A	T	1: 24,728,544		probably null	Het
Lmtk3	A	G	7: 45,793,417	E508G	probably damaging	Het
Lrrc2	G	A	9: 110,980,831	V312I	probably benign	Het
Lyn	A	T	4: 3,789,834	K477*	probably null	Het
Nfe2l2	T	C	2: 75,679,413	D21G	probably damaging	Het
Olfr1316	T	C	2: 112,130,581	T77A	probably benign	Het
Olfr297	G	A	7: 86,527,072	C105Y	probably benign	Het
Olfr543	G	A	7: 102,477,265	R202C	possibly damaging	Het
Olfr893	T	C	9: 38,209,151	F31L	probably benign	Het
Pkm	T	A	9: 59,678,158	C474*	probably null	Het
Prr36	T	A	8: 4,213,150	I839F	unknown	Het
Qtrt2	A	G	16: 43,868,940		probably null	Het
Ripk4	A	T	16: 97,745,925	V379E	probably damaging	Het
Rreb1	C	A	13: 37,949,066	P304Q		Het
Saxo2	A	T	7: 82,648,417	C5S	possibly damaging	Het
Sema5a	C	A	15: 32,609,232	T428N	possibly damaging	Het
Setd5	C	A	6: 113,144,049	P1073Q	possibly damaging	Het
Sh2d5	T	G	4: 138,256,839	C173G	probably benign	Het
Slc4a10	T	G	2: 62,250,479	V350G	probably damaging	Het
Slco1a6	A	G	6: 142,161,017	C15R	probably damaging	Het
Smg7	A	T	1: 152,841,544	F940Y	possibly damaging	Het
Spata17	T	A	1: 187,122,636		probably null	Het
Specc1	A	G	11: 62,128,384	N603S	possibly damaging	Het
Tbc1d1	A	G	5: 64,264,330	D355G	probably damaging	Het
Thbs2	T	C	17: 14,674,164	D807G	probably benign	Het
Tmem8	C	A	17: 26,117,891	P261Q	probably benign	Het
Usp53	T	C	3: 122,961,285	T174A	probably benign	Het
Vmn2r52	A	G	7: 10,173,347	Y151H	probably benign	Het
Wdr12	G	A	1: 60,097,589		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
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
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'- GCTCTGTTCATGTAGTCCAGTG -3'
(R):5'- GAAGGGCTGGTCACATCAAAC -3'

Sequencing Primer
(F):5'- CATGTAGTCCAGTGTGTTCTGAC -3'
(R):5'- TGTGATACCTACCTGAACAGATGACG -3'

Posted On

2019-10-24