Mutagenetix > Incidental Mutation

Incidental Mutation 'R9522:5830411N06Rik'

718954

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 #

R9522 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

140247284-140300736 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 140274074 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Asparagine at position 330 (I330N)

Ref Sequence

ENSEMBL: ENSMUSP00000131905 (fasta)

Gene Model

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

AlphaFold

B3F5L4

Predicted Effect

probably benign
Transcript: ENSMUST00000093984

SMART Domains

Protein: ENSMUSP00000091520
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
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: I330N

PolyPhen 2 Score 0.734 (Sensitivity: 0.85; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000131905
Gene: ENSMUSG00000054672
AA Change: I330N

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: 99.7%
20x: 98.9%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 66 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700001C02Rik	A	T	5: 30,466,123	S5C	probably damaging	Het
Abca14	A	T	7: 120,248,145	Y744F	probably null	Het
Adam17	C	A	12: 21,345,692	V277F	probably damaging	Het
Adcy8	C	T	15: 64,920,711	C132Y	probably damaging	Het
Adgrf3	G	A	5: 30,199,484	P318L	possibly damaging	Het
Ahcyl1	A	T	3: 107,672,082	I212N	probably damaging	Het
Allc	A	T	12: 28,570,654	F33I	probably damaging	Het
Arhgap32	A	G	9: 32,116,154	T7A	probably benign	Het
Bbs4	A	G	9: 59,353,408		probably null	Het
Btbd1	G	T	7: 81,829,333	P20H	unknown	Het
Cass4	A	G	2: 172,427,428	I477V	possibly damaging	Het
Cep83	A	G	10: 94,750,322	E362G	probably damaging	Het
Chst13	G	A	6: 90,309,524	P152L	probably damaging	Het
Cntnap5b	A	G	1: 100,484,622	D896G	probably benign	Het
Crocc2	T	C	1: 93,189,707	V305A	probably benign	Het
Cse1l	G	A	2: 166,934,753	V495I	probably benign	Het
Ctsj	A	T	13: 61,004,443	Y36*	probably null	Het
Ctss	T	G	3: 95,546,798	D220E	probably benign	Het
Ctu1	T	C	7: 43,675,476	L113P	probably benign	Het
Cyp2d40	G	A	15: 82,764,073	A13V	possibly damaging	Het
Dhrs4	A	T	14: 55,478,762		probably benign	Het
Dlgap4	G	T	2: 156,704,594	R394L	possibly damaging	Het
Dpysl5	C	A	5: 30,778,055	Y167*	probably null	Het
E4f1	C	T	17: 24,447,122	G234D	probably damaging	Het
Eif3g	G	T	9: 20,898,155	T27N	probably benign	Het
Eif3g	T	A	9: 20,898,156	T27S	probably benign	Het
Fcrls	A	G	3: 87,256,794	F343L	possibly damaging	Het
Fdft1	T	C	14: 63,159,148		probably null	Het
Gm4450	T	C	3: 98,446,467	S239G	probably benign	Het
Gm960	T	C	19: 4,627,246	H612R	probably benign	Het
Igf2r	G	T	17: 12,698,328	Q1562K	probably benign	Het
Ilf3	G	A	9: 21,394,237	V232I	probably benign	Het
Irx5	C	T	8: 92,360,631	T397M	possibly damaging	Het
Kif16b	A	T	2: 142,849,907	V219D	probably damaging	Het
Klkb1	T	C	8: 45,277,015	I276M	probably benign	Het
Large2	A	G	2: 92,369,921	L115P	probably damaging	Het
Lrrc3b	T	C	14: 15,358,423	D61G	probably benign	Het
Map7	A	G	10: 20,229,896	Y31C	possibly damaging	Het
Moxd2	T	A	6: 40,880,441	I462F	probably benign	Het
Olfr1158	G	A	2: 87,990,831	C240Y	probably damaging	Het
Olfr136	A	T	17: 38,335,429	T91S	possibly damaging	Het
Olfr1450	T	A	19: 12,954,013	C141*	probably null	Het
Phf20l1	T	C	15: 66,632,820	V770A	possibly damaging	Het
Ppfia4	G	A	1: 134,313,148	A819V	probably damaging	Het
Qrfpr	A	G	3: 36,182,527	W242R	probably damaging	Het
Rgs3	A	G	4: 62,605,492	I53M	probably benign	Het
Rif1	T	C	2: 52,081,299	F263S	probably damaging	Het
Rpl22l1	T	C	3: 28,806,594		probably null	Het
Ryr3	T	A	2: 112,730,414	I3001F	probably benign	Het
Safb2	A	G	17: 56,566,900	I675T	probably damaging	Het
Sec16b	C	T	1: 157,564,765	S901L	probably damaging	Het
Setd5	T	G	6: 113,115,034	I272S	probably damaging	Het
Slc40a1	A	T	1: 45,909,512	M536K	probably damaging	Het
Slfn3	T	C	11: 83,212,999	V232A	probably benign	Het
Spata31d1b	T	C	13: 59,716,966	S643P	probably benign	Het
Tbc1d23	T	C	16: 57,198,744	D251G	probably benign	Het
Tbccd1	T	C	16: 22,822,499	E376G	possibly damaging	Het
Tmem184a	G	T	5: 139,805,730	P368T	probably benign	Het
Top1mt	T	C	15: 75,667,460	D362G	probably damaging	Het
Ugt3a2	C	A	15: 9,370,123	P451H	probably damaging	Het
Unc80	G	A	1: 66,638,062	C2050Y	possibly damaging	Het
Usp48	G	A	4: 137,613,685	G332E	probably benign	Het
Vmn1r179	T	C	7: 23,928,777	V131A	probably damaging	Het
Wdr89	A	G	12: 75,633,150	F110S	probably damaging	Het
Znrf3	T	C	11: 5,282,379	Y282C	probably damaging	Het
Zscan18	T	C	7: 12,769,370	D754G	possibly 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
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
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'- TTCAACAAGTCAGGCTGGC -3'
(R):5'- TGGCGACAACCGTGATGAAC -3'

Sequencing Primer
(F):5'- AGAGGTGCCAGTCCATGTG -3'
(R):5'- CGTGATGAACAGAGAAGATTCTATTG -3'

Posted On

2022-07-18