Mutagenetix > Incidental Mutation

Incidental Mutation 'R9152:5830411N06Rik'

695093

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 #

R9152 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

140247284-140300736 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 140297343 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Isoleucine at position 857 (N857I)

Ref Sequence

ENSEMBL: ENSMUSP00000131905 (fasta)

Gene Model

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

AlphaFold

B3F5L4

Predicted Effect

probably benign
Transcript: ENSMUST00000093984
AA Change: N741I

PolyPhen 2 Score 0.235 (Sensitivity: 0.91; Specificity: 0.88)

SMART Domains

Protein: ENSMUSP00000091520
Gene: ENSMUSG00000054672
AA Change: N741I

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: N857I

PolyPhen 2 Score 0.554 (Sensitivity: 0.88; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000131905
Gene: ENSMUSG00000054672
AA Change: N857I

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

Meta Mutation Damage Score

0.1712

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 98.9%

Validation Efficiency

98% (44/45)

Allele List at MGI

Other mutations in this stock

Total: 44 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adamts6	C	A	13: 104,476,767	R1009S	probably benign	Het
Akap13	T	A	7: 75,611,285	I1219K	probably damaging	Het
Ap3b1	T	C	13: 94,472,931		probably null	Het
Ap3b1	T	A	13: 94,493,731	D831E	unknown	Het
Arsa	G	A	15: 89,475,792		probably benign	Het
Clrn2	T	C	5: 45,463,912	I216T	probably benign	Het
Cspg4	A	G	9: 56,888,179	K1066R	probably benign	Het
Cul4a	T	C	8: 13,105,799	M15T	probably benign	Het
Defb38	C	T	8: 19,026,542		probably benign	Het
Dnah9	T	C	11: 66,130,631	D323G	probably damaging	Het
Dsg1c	T	A	18: 20,283,272	D743E	probably benign	Het
Elf1	T	C	14: 79,570,912	L268P	probably damaging	Het
Gm2056	T	C	12: 88,027,176	L58P	probably damaging	Het
H2afy	CTTACCTCCAGCT	C	13: 56,084,191		probably null	Het
Helq	G	T	5: 100,770,459	A863D	probably benign	Het
Hfm1	T	A	5: 106,841,745	R1368S	probably benign	Het
Hspg2	G	A	4: 137,522,565	G1379E	possibly damaging	Het
Kcnq5	A	T	1: 21,469,468		probably null	Het
Lrit2	C	T	14: 37,072,230	T417I	probably damaging	Het
Ltbp2	G	A	12: 84,791,090	P1192L	probably benign	Het
Mgat2	G	A	12: 69,185,723	W357*	probably null	Het
Mlkl	A	G	8: 111,319,771	L290P	probably damaging	Het
Olfr267	T	C	4: 58,785,114	I203V	probably benign	Het
Olfr339	T	A	2: 36,421,427	S10T	possibly damaging	Het
Olfr851	A	T	9: 19,497,152	I135F	probably damaging	Het
Pcnx	T	C	12: 81,975,815	V853A		Het
Pex19	GTCTCTTGTCTCCGAAGGTGCTCTTGATGATTTCTCTTGTCTCCGAAGGTGCTCTTGATGATTTC	GTCTCTTGTCTCCGAAGGTGCTCTTGATGATTTC	1: 172,128,583		probably null	Het
Pik3c2a	G	A	7: 116,417,769	S251L	probably benign	Het
Prkch	T	C	12: 73,691,644	M175T	possibly damaging	Het
Psg22	A	T	7: 18,726,721	Q425L	probably damaging	Het
Qpctl	A	G	7: 19,149,100	L29P	probably damaging	Het
Ranbp10	A	T	8: 105,772,508	L549M	probably benign	Het
Rbbp6	A	G	7: 123,001,474	E1568G	unknown	Het
Rrh	A	T	3: 129,813,254	D173E	probably benign	Het
Selplg	A	G	5: 113,819,406	S280P	probably benign	Het
Sept11	T	C	5: 93,139,470	S17P	probably benign	Het
Stard9	T	C	2: 120,698,587	V1775A	probably damaging	Het
Tep1	A	C	14: 50,866,705	V244G	probably benign	Het
Tex24	A	C	8: 27,345,351	E302D	possibly damaging	Het
Trav18	A	G	14: 53,831,554	T19A	probably benign	Het
Trim56	T	C	5: 137,114,533	D43G	probably benign	Het
Trp53bp1	T	C	2: 121,198,575	T1869A	probably damaging	Het
Usp22	A	G	11: 61,158,375	C383R	probably damaging	Het
Zdhhc22	G	A	12: 86,988,418	P87S	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
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
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'- TTCTACAATGGGACCTGGGG -3'
(R):5'- GGTTTCAAAGGATATCCACAAAGC -3'

Sequencing Primer
(F):5'- TGCCAGTCTCTGAATGCTG -3'
(R):5'- GCCTGAAAATTCCACACTGCTTC -3'

Posted On

2022-01-20