Mutagenetix > Incidental Mutation

Incidental Mutation 'R9470:5830411N06Rik'

715424

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 #

R9470 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

140247284-140300736 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 140247432 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Alanine at position 18 (T18A)

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: T18A

PolyPhen 2 Score 0.070 (Sensitivity: 0.94; Specificity: 0.84)

SMART Domains

Protein: ENSMUSP00000091520
Gene: ENSMUSG00000054672
AA Change: T18A

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 benign
Transcript: ENSMUST00000164583
AA Change: T18A

PolyPhen 2 Score 0.070 (Sensitivity: 0.94; Specificity: 0.84)

SMART Domains

Protein: ENSMUSP00000131905
Gene: ENSMUSG00000054672
AA Change: T18A

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: 98.5%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 44 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700123L14Rik	T	C	6: 96,165,493	H190R	possibly damaging	Het
4930467E23Rik	T	A	8: 19,747,793	S292T	probably benign	Het
Adgrb2	T	A	4: 130,009,281	L558Q	probably damaging	Het
Apob	A	G	12: 7,989,219	D483G	possibly damaging	Het
Arid1a	T	C	4: 133,685,746	D994G	unknown	Het
Barx2	A	T	9: 31,858,748	Y161*	probably null	Het
Bmp7	G	T	2: 172,870,167	N421K	probably damaging	Het
Bod1l	A	T	5: 41,817,096	C2292S	probably damaging	Het
Ces1c	C	T	8: 93,104,118		probably null	Het
Clca3b	T	C	3: 144,837,695	T458A	probably damaging	Het
Cntnap5a	T	G	1: 116,446,614	V952G	probably damaging	Het
Cyp2c54	T	C	19: 40,072,444	E85G	probably damaging	Het
Dmxl1	A	G	18: 49,893,710	K1962E	possibly damaging	Het
Dnajc13	A	G	9: 104,230,720	V254A	probably benign	Het
Dysf	A	T	6: 84,113,370	I955F	possibly damaging	Het
Fam184b	A	G	5: 45,584,512	S126P	probably damaging	Het
Gapvd1	A	T	2: 34,712,268	D622E	possibly damaging	Het
Ggta1	T	C	2: 35,402,755	Y180C	probably damaging	Het
Gpr31b	A	G	17: 13,051,958	V108A	probably damaging	Het
Kcnu1	A	G	8: 25,919,632	Y861C	probably benign	Het
Mov10l1	T	C	15: 89,020,315	L799P	probably damaging	Het
Nkx1-1	G	A	5: 33,433,931	P16S	unknown	Het
Nos1	T	C	5: 117,926,495	L997P	probably damaging	Het
Noxred1	A	G	12: 87,223,055	Y301H	possibly damaging	Het
Olfr1467	A	G	19: 13,364,751	N41S	probably damaging	Het
Olfr592	G	A	7: 103,187,063	R154H	probably benign	Het
Olfr711	A	T	7: 106,972,254	I30N	probably benign	Het
Olfr738	T	C	14: 50,413,778	V78A	possibly damaging	Het
Olfr987	A	T	2: 85,331,329	S190T	probably damaging	Het
Paqr7	T	C	4: 134,507,603	V257A	probably benign	Het
Parp8	A	T	13: 116,894,756	S473R	probably benign	Het
Pcdhb14	A	T	18: 37,448,023	T61S	probably benign	Het
Pde11a	G	A	2: 75,991,268	A889V	probably benign	Het
Sertad1	T	C	7: 27,489,446	L64P	probably damaging	Het
Tmem156	C	T	5: 65,080,188	R43K	probably damaging	Het
Tmem82	T	A	4: 141,615,030	D287V	probably damaging	Het
Traf1	A	G	2: 34,943,962	F381L	probably benign	Het
Trim44	T	C	2: 102,400,306	S127G	unknown	Het
Tyw1	G	A	5: 130,269,224	R202Q	probably damaging	Het
Ubap2	G	A	4: 41,195,434	A1068V	possibly damaging	Het
Vmn1r47	T	G	6: 90,022,795	M303R	probably null	Het
Zc3h12d	T	C	10: 7,867,557	S364P	possibly damaging	Het
Zdbf2	T	A	1: 63,305,625	N1054K	possibly damaging	Het
Zpbp	A	T	11: 11,408,541	I242N	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
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
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'- AGGAGCCTATGGTGCTGAAG -3'
(R):5'- CTCAGTCGTAAATACTCTGCATTG -3'

Sequencing Primer
(F):5'- CCTATGGTGCTGAAGGGCTC -3'
(R):5'- CAGAATCCAAATGGTTGCTTTGATG -3'

Posted On

2022-06-15