Mutagenetix > Incidental Mutation

Incidental Mutation 'R0959:5830411N06Rik'

81774

Institutional Source

Beutler Lab

Gene Symbol

5830411N06Rik

Ensembl Gene

ENSMUSG00000054672

Gene Name

RIKEN cDNA 5830411N06 gene

Synonyms

Scart2

MMRRC Submission

039088-MU

Accession Numbers

Is this an essential gene?

Non essential (E-score: 0.000) question?

Stock #

R0959 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

140247284-140300736 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 140294791 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Glycine at position 394 (E394G)

Ref Sequence

ENSEMBL: ENSMUSP00000131905 (fasta)

Gene Model

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

AlphaFold

B3F5L4

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000059882

SMART Domains

Protein: ENSMUSP00000061346
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

Predicted Effect

probably damaging
Transcript: ENSMUST00000093984
AA Change: E278G

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

SMART Domains

Protein: ENSMUSP00000091520
Gene: ENSMUSG00000054672
AA Change: E278G

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: E394G

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

SMART Domains

Protein: ENSMUSP00000131905
Gene: ENSMUSG00000054672
AA Change: E394G

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000210212

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000211749

Coding Region Coverage

1x: 99.6%
3x: 98.7%
10x: 95.8%
20x: 89.6%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 57 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Actl11	T	C	9: 107,931,235	V919A	probably damaging	Het
Adam28	G	A	14: 68,607,938	P761L	possibly damaging	Het
Aplf	G	A	6: 87,646,083	P338L	probably benign	Het
Arl5b	T	A	2: 15,073,131	I89N	probably damaging	Het
Asap2	T	C	12: 21,247,319	V596A	probably damaging	Het
Baz1b	T	G	5: 135,244,222	F1400C	probably damaging	Het
Ccdc149	A	T	5: 52,385,155	L365Q	probably damaging	Het
Ccdc60	A	G	5: 116,180,811	S149P	probably damaging	Het
Ces1b	A	G	8: 93,068,147	C275R	probably damaging	Het
Creb3	T	C	4: 43,563,509	L163P	probably damaging	Het
Dhx37	T	G	5: 125,423,432	N570T	probably benign	Het
Epc1	T	C	18: 6,453,657	N223D	probably damaging	Het
Gbp5	C	T	3: 142,503,124	H143Y	possibly damaging	Het
Gfod1	A	T	13: 43,303,429	D23E	probably benign	Het
Gm12169	A	T	11: 46,536,420	R187*	probably null	Het
Gm7361	A	T	5: 26,262,053	E223D	possibly damaging	Het
Izumo1	A	G	7: 45,624,991	K161E	probably damaging	Het
Kcnh2	C	T	5: 24,322,672	R894H	probably damaging	Het
Lrp1b	T	C	2: 41,268,354	N1617S	possibly damaging	Het
Med13l	A	T	5: 118,754,285	E1924D	possibly damaging	Het
Mroh2a	GCCC	GC	1: 88,232,257		probably null	Het
Mtg2	T	G	2: 180,083,428	S145A	probably benign	Het
Mug2	G	A	6: 122,085,495	S1442N	probably benign	Het
Myo1b	A	T	1: 51,797,087	I315N	probably damaging	Het
Naip2	G	A	13: 100,154,878	T1184M	probably benign	Het
Naip2	T	A	13: 100,154,911	H1173L	probably benign	Het
Nsrp1	G	A	11: 77,046,459	R304*	probably null	Het
Olfr444	G	T	6: 42,955,752	V85L	probably benign	Het
Oxtr	C	T	6: 112,477,177	R42Q	probably benign	Het
Parp4	T	C	14: 56,648,119	F1552L	unknown	Het
Pigw	G	A	11: 84,878,207	H99Y	probably benign	Het
Ppp6r2	G	A	15: 89,274,176	M444I	possibly damaging	Het
Rchy1	A	G	5: 91,957,617	F82L	probably damaging	Het
Reln	A	C	5: 22,227,628	F125V	probably damaging	Het
Riok1	G	A	13: 38,057,173	E435K	probably damaging	Het
Rnf213	A	G	11: 119,452,581	R3590G	probably damaging	Het
Scrib	G	C	15: 76,051,461	P1249A	probably benign	Het
Shc4	C	T	2: 125,678,687		probably null	Het
Slc12a2	T	A	18: 57,904,378	I520N	probably damaging	Het
Slc26a5	A	G	5: 21,816,961	I484T	probably benign	Het
Slc39a11	G	T	11: 113,464,073	T110K	probably benign	Het
Snd1	T	A	6: 28,884,971	S774T	probably benign	Het
Spata31d1c	C	T	13: 65,036,315	P557L	probably damaging	Het
Svs1	T	A	6: 48,988,632	C525S	possibly damaging	Het
Tada1	A	G	1: 166,388,629	D133G	probably benign	Het
Tg	A	T	15: 66,708,010	T1555S	probably damaging	Het
Thra	A	G	11: 98,753,629	E15G	possibly damaging	Het
Ttn	T	A	2: 76,795,096	I15128F	probably damaging	Het
Ube2r2	A	G	4: 41,174,066	Y68C	probably damaging	Het
Uncx	A	T	5: 139,546,687	N169I	probably damaging	Het
Vmn2r100	A	G	17: 19,523,524	Y483C	possibly damaging	Het
Xkr4	T	C	1: 3,216,674	D431G	probably damaging	Het
Xylb	C	A	9: 119,380,025	A311E	possibly damaging	Het
Zbtb39	C	G	10: 127,742,306	Q250E	probably benign	Het
Zbtb39	C	A	10: 127,743,062	H502N	probably damaging	Het
Zfp82	A	G	7: 30,056,451	L402P	probably damaging	Het
Zpbp2	G	A	11: 98,557,625	R256Q	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
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
R9794:5830411N06Rik	UTSW	7	140294803	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- TGGGTGACAGCCATCAGATCATTTC -3'
(R):5'- TAGGCCGTGACCTGACTCACTTTC -3'

Sequencing Primer
(F):5'- ATCAGATCATTTCTCTCCAGGGC -3'
(R):5'- TCCCCTGAGCAGATTAGTGC -3'

Posted On

2013-11-08