Mutagenetix > Incidental Mutation

Incidental Mutation 'R9794:5830411N06Rik'

734818

Institutional Source

Beutler Lab

Gene Symbol

5830411N06Rik

Ensembl Gene

ENSMUSG00000054672

Gene Name

RIKEN cDNA 5830411N06 gene

Synonyms

Scart2

Accession Numbers

Is this an essential gene?

Non essential (E-score: 0.000) question?

Stock #

R9794 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

140247284-140300736 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 140294803 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Glycine to Aspartic acid at position 398 (G398D)

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: G282D

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

SMART Domains

Protein: ENSMUSP00000091520
Gene: ENSMUSG00000054672
AA Change: G282D

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: G398D

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

SMART Domains

Protein: ENSMUSP00000131905
Gene: ENSMUSG00000054672
AA Change: G398D

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: 99.9%
3x: 99.8%
10x: 99.5%
20x: 99.0%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 70 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2810474O19Rik	T	A	6: 149,326,741	Y428*	probably null	Het
9930012K11Rik	T	A	14: 70,157,589	I39L	possibly damaging	Het
Acacb	T	C	5: 114,249,517	V2415A	probably benign	Het
Adgrg6	C	A	10: 14,438,452	G669C	probably damaging	Het
Arhgdib	A	G	6: 136,929,610		probably null	Het
Arhgef18	G	A	8: 3,451,634	V643I	probably benign	Het
Arntl2	T	A	6: 146,832,535	D543E	probably benign	Het
Aspm	T	A	1: 139,478,742	I1789N	probably damaging	Het
Atm	C	T	9: 53,518,567	V390I	probably benign	Het
AW554918	A	G	18: 25,203,974	E148G	probably damaging	Het
Camk2a	T	C	18: 60,963,959	V327A	probably benign	Het
Celsr3	T	C	9: 108,851,303	V3302A	probably benign	Het
Ces2a	G	A	8: 104,741,264	V509M	probably benign	Het
Cpa5	T	C	6: 30,625,921		probably null	Het
Cplx3	A	T	9: 57,602,239	*159R	probably null	Het
Cyp2b23	A	T	7: 26,681,696	Y79N	probably benign	Het
Dapk1	A	G	13: 60,761,268	T1232A	probably damaging	Het
Dsg3	A	T	18: 20,540,097	T942S	probably benign	Het
Efnb3	G	A	11: 69,557,406	P70L	probably damaging	Het
Elmsan1	T	A	12: 84,173,802	Q126L	probably damaging	Het
Eln	G	T	5: 134,722,498	Y280*	probably null	Het
Epha8	G	T	4: 136,938,724	H374N	probably benign	Het
Erbin	A	T	13: 103,834,851	D752E	probably benign	Het
Fam149a	A	G	8: 45,381,412	S117P	possibly damaging	Het
Fchsd2	G	A	7: 101,244,203	C304Y	probably benign	Het
Galnt6	C	A	15: 100,697,978	V390L	probably damaging	Het
Gm4737	A	G	16: 46,153,979	V345A	probably benign	Het
Gm4869	T	A	5: 140,462,315		probably null	Het
Grk3	T	C	5: 112,973,582		probably null	Het
Il17rc	A	T	6: 113,476,765	T237S	probably benign	Het
Inpp5b	A	G	4: 124,793,381	D800G	probably damaging	Het
Itga11	A	G	9: 62,755,586	N528S	probably benign	Het
Lancl2	T	A	6: 57,737,723	F442L	probably benign	Het
Ldah	G	T	12: 8,268,430	A180S	possibly damaging	Het
Lingo1	T	C	9: 56,621,308	E5G	probably benign	Het
Lingo3	T	C	10: 80,834,873	I408V	possibly damaging	Het
Liph	A	T	16: 21,956,112	L445Q	probably damaging	Het
Lonrf1	A	G	8: 36,236,081	Y314H	probably damaging	Het
Lrit3	A	T	3: 129,800,424	L168Q	probably damaging	Het
Mylk4	G	T	13: 32,715,967	T312K	probably damaging	Het
Myzap	A	T	9: 71,579,800	M15K	probably benign	Het
Ngf	G	A	3: 102,520,816	V298M	probably damaging	Het
Nlrp9a	A	G	7: 26,564,877	I741V	probably benign	Het
Nrxn2	T	C	19: 6,517,034	V1313A	possibly damaging	Het
Nuf2	C	T	1: 169,507,385		probably null	Het
Olfr1031	A	G	2: 85,992,120	Y101C	probably benign	Het
Olfr60	G	A	7: 140,345,570	Q140*	probably null	Het
Pcdh17	C	T	14: 84,532,910	R943*	probably null	Het
Phykpl	A	T	11: 51,598,385	H346L	probably benign	Het
Plk4	C	A	3: 40,805,100	L144I	probably damaging	Het
Pole	C	A	5: 110,318,335	P1301Q	probably benign	Het
Prkch	T	A	12: 73,697,970	N252K	possibly damaging	Het
Psen2	A	T	1: 180,240,729		probably null	Het
Ptgds	C	A	2: 25,469,117	R42L	probably benign	Het
Ptprz1	A	G	6: 23,000,205	T765A	probably benign	Het
Rab6b	T	C	9: 103,163,862	F152L	possibly damaging	Het
Rbm12b2	T	A	4: 12,095,335	F731L	probably damaging	Het
Rnf32	T	C	5: 29,224,127	I234T	probably damaging	Het
Scn8a	T	A	15: 101,035,451	I1512N	probably benign	Het
Senp6	T	A	9: 80,092,308	D81E	probably benign	Het
Slc26a7	T	G	4: 14,590,416	N125T	possibly damaging	Het
Sptlc1	A	T	13: 53,358,767	I185N	possibly damaging	Het
Syne2	C	A	12: 76,000,843	H4013N	probably benign	Het
Tbc1d9b	T	C	11: 50,171,178	V1171A	probably benign	Het
Tmem63b	T	C	17: 45,666,326	N417S	probably benign	Het
Ttn	A	G	2: 76,875,849	V9176A	unknown	Het
Vmn1r210	T	C	13: 22,827,262	I285V	probably damaging	Het
Wbp11	C	T	6: 136,818,023	V308I	possibly damaging	Het
Wnk2	A	C	13: 49,076,198	V950G	probably benign	Het
Zfp110	A	G	7: 12,844,594	N144S	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
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

Predicted Primers

PCR Primer
(F):5'- ATTCCTCACTAGGGGACTGG -3'
(R):5'- TTTCCCCTGAGCAGATTAGTG -3'

Sequencing Primer
(F):5'- GGGTGACAGCCATCAGATCATTTC -3'
(R):5'- AGTGCAGCATCCTGATCATG -3'

Posted On

2022-11-14