Mutagenetix > Incidental Mutation

Incidental Mutation 'R6995:5830411N06Rik'

544136

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 #

R6995 (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 140261601 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Asparagine at position 273 (D273N)

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

probably benign
Transcript: ENSMUST00000164583
AA Change: D273N

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000131905
Gene: ENSMUSG00000054672
AA Change: D273N

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: 99.8%
20x: 99.2%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 84 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930433I11Rik	A	G	7: 40,994,725	Y606C	probably benign	Het
5430419D17Rik	G	T	7: 131,222,671	W165L	probably damaging	Het
Acad9	A	G	3: 36,085,481	Y410C	probably damaging	Het
Acot6	C	T	12: 84,109,375	P366S	probably damaging	Het
Anks1	G	T	17: 28,054,299	G964V	probably damaging	Het
Apol7a	A	T	15: 77,389,976		probably benign	Het
Arid3c	G	A	4: 41,725,087	A320V	probably damaging	Het
Bnip3l	A	T	14: 66,999,652	N50K	probably benign	Het
C130060K24Rik	A	T	6: 65,441,301	K151I	probably damaging	Het
C1qtnf4	C	A	2: 90,889,953	A190D	probably benign	Het
Cdh1	G	T	8: 106,660,913	V482L	probably benign	Het
Cdrt4	A	C	11: 62,992,660	I63L	probably benign	Het
Cic	A	T	7: 25,271,311	T156S	possibly damaging	Het
Ckm	A	G	7: 19,420,231	N301S	probably benign	Het
Colgalt1	C	T	8: 71,623,521	R539C	probably damaging	Het
Cop1	A	G	1: 159,306,584	D132G	probably damaging	Het
Cpd	G	T	11: 76,785,055	N1257K	probably benign	Het
Cyp2c67	T	C	19: 39,615,679	H411R	probably damaging	Het
Cyp2r1	A	T	7: 114,553,081	F5I	probably damaging	Het
Dclk3	T	A	9: 111,467,700	L104Q	possibly damaging	Het
Dnah7c	A	T	1: 46,455,813	Q67L	probably benign	Het
Dnm1l	C	A	16: 16,329,807	E365*	probably null	Het
Dst	A	T	1: 34,166,234	I502F	probably damaging	Het
Espl1	T	C	15: 102,304,100	V547A	possibly damaging	Het
Fam26e	A	T	10: 34,096,193	M82K	probably benign	Het
Foxa1	C	T	12: 57,542,478	A319T	probably benign	Het
Frem1	G	T	4: 82,986,601	H859N	probably damaging	Het
Frem3	T	A	8: 80,612,579	D500E	probably damaging	Het
Gm9774	T	C	3: 92,429,008		probably benign	Het
Gpatch2l	G	A	12: 86,244,184	R47H	probably damaging	Het
Grip1	A	G	10: 119,986,470	D394G	probably damaging	Het
Gsap	C	A	5: 21,271,237	T589K	possibly damaging	Het
Gsg1l	A	G	7: 125,923,486	V190A	probably damaging	Het
Kcnmb1	A	T	11: 33,970,131	T115S	probably benign	Het
Kirrel2	A	C	7: 30,455,179	F169C	probably damaging	Het
L3mbtl1	C	T	2: 162,961,448	T397M	probably damaging	Het
Lama1	G	A	17: 67,753,825	C716Y		Het
Lamc2	G	A	1: 153,136,762	T722M	probably benign	Het
Lrig1	T	C	6: 94,611,629	D513G	possibly damaging	Het
Lrrk1	T	C	7: 66,292,342	D716G	probably damaging	Het
Matn4	G	A	2: 164,389,664	R582*	probably null	Het
Mdn1	A	T	4: 32,733,374	R3133W	probably benign	Het
Mmp7	A	G	9: 7,695,488	D122G	probably damaging	Het
Naaladl1	A	G	19: 6,115,548	D744G	possibly damaging	Het
Nampt	T	G	12: 32,848,743	Y453D	probably benign	Het
Nlrp12	A	G	7: 3,239,851	V677A	probably benign	Het
Ntng2	T	C	2: 29,197,068	N414S	probably damaging	Het
Olfr1	A	G	11: 73,395,584	V146A	probably benign	Het
Olfr1160	A	C	2: 88,006,185	F189V	probably benign	Het
Olfr1284	A	G	2: 111,379,363	D121G	probably damaging	Het
Olfr472	A	G	7: 107,903,622	R302G	probably benign	Het
Parp4	A	C	14: 56,613,739	Q733P	probably damaging	Het
Pdcl3	G	A	1: 38,995,336	V56I	probably benign	Het
Pepd	A	G	7: 35,021,719	Y256C	probably damaging	Het
Plg	G	T	17: 12,419,051	R788L	probably benign	Het
Plod1	A	T	4: 147,916,218		probably benign	Het
Ptprc	A	G	1: 138,088,744	V513A	probably damaging	Het
Pxdn	T	C	12: 29,995,371	I373T	possibly damaging	Het
Rbbp8	G	A	18: 11,718,908	G262E	probably damaging	Het
Rfc2	T	A	5: 134,594,250	Y240*	probably null	Het
Rps15	A	G	10: 80,293,764	E71G	possibly damaging	Het
Rsrc1	C	T	3: 66,994,649	P44L	unknown	Het
Ryr1	A	C	7: 29,094,182	M1287R	probably damaging	Het
Serpina9	A	G	12: 104,001,236	L300P	probably damaging	Het
Sh3rf2	G	A	18: 42,101,541	A130T	probably damaging	Het
Slc12a8	G	A	16: 33,534,893	W26*	probably null	Het
Snx18	A	T	13: 113,594,729	H576Q	probably damaging	Het
Tagln3	G	A	16: 45,722,958	T107I	probably benign	Het
Thap1	C	A	8: 26,162,651	T139K	probably damaging	Het
Tle4	T	A	19: 14,564,453		probably null	Het
Tmem87a	A	T	2: 120,362,928	M502K	possibly damaging	Het
Tpcn2	A	T	7: 145,256,785	V605E	probably benign	Het
Trgj1	C	A	13: 19,210,359		probably benign	Het
Tsc2	A	T	17: 24,628,054	V179E	probably damaging	Het
Ubap2l	T	C	3: 90,009,241	T909A	probably damaging	Het
Ubl4b	T	G	3: 107,554,824	Q40P	probably damaging	Het
Vmn1r229	A	G	17: 20,815,015	D174G	probably damaging	Het
Vmn2r50	A	T	7: 10,046,037	Y472*	probably null	Het
Vmn2r74	T	A	7: 85,952,735	D565V	probably benign	Het
Vmn2r74	T	A	7: 85,957,652		probably null	Het
Vmn2r82	T	A	10: 79,396,543	V792E	probably damaging	Het
Zfp335	G	A	2: 164,893,290	Q1179*	probably null	Het
Zmynd12	A	C	4: 119,453,575	K327Q	probably benign	Het
Zwilch	G	A	9: 64,165,449	Q27*	probably null	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
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
R9794:5830411N06Rik	UTSW	7	140294803	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- TGGGTGACAGATGACAGCTC -3'
(R):5'- TTGTGCTAGCATTAAGACAGTCAC -3'

Sequencing Primer
(F):5'- TGACAGATGACAGCTCTGATGTG -3'
(R):5'- CACACACATGAACCTTAGG -3'

Posted On

2019-05-13