Mutagenetix > Incidental Mutation

Incidental Mutation 'R5161:4930407I10Rik'

397017

Institutional Source

Beutler Lab

Gene Symbol

4930407I10Rik

Ensembl Gene

ENSMUSG00000075524

Gene Name

RIKEN cDNA 4930407I10 gene

Synonyms

LOC328573

MMRRC Submission

042743-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.076) question?

Stock #

R5161 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

82059151-82066540 bp(+) (GRCm38)

Type of Mutation

nonsense

DNA Base Change (assembly)

G to T at 82063341 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Stop codon at position 480 (E480*)

Ref Sequence

ENSEMBL: ENSMUSP00000097965 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000100396]

AlphaFold

D3Z5T8

Predicted Effect

probably null
Transcript: ENSMUST00000100396
AA Change: E480*

SMART Domains

Protein: ENSMUSP00000097965
Gene: ENSMUSG00000075524
AA Change: E480*

Domain	Start	End	E-Value	Type
Pfam:DUF4727	25	234	1.1e-109	PFAM
internal_repeat_1	321	406	9.89e-8	PROSPERO
low complexity region	453	465	N/A	INTRINSIC
internal_repeat_2	593	707	6.03e-6	PROSPERO
low complexity region	735	752	N/A	INTRINSIC
low complexity region	758	773	N/A	INTRINSIC
internal_repeat_2	842	958	6.03e-6	PROSPERO
internal_repeat_1	876	962	9.89e-8	PROSPERO
low complexity region	985	996	N/A	INTRINSIC
low complexity region	1117	1133	N/A	INTRINSIC
low complexity region	1143	1156	N/A	INTRINSIC
low complexity region	1199	1208	N/A	INTRINSIC
low complexity region	1259	1270	N/A	INTRINSIC
low complexity region	1282	1296	N/A	INTRINSIC

Meta Mutation Damage Score

0.9755

Coding Region Coverage

1x: 99.3%
3x: 98.6%
10x: 97.3%
20x: 95.2%

Validation Efficiency

98% (56/57)

Allele List at MGI

Other mutations in this stock

Total: 55 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
0610040J01Rik	G	T	5: 63,898,001	E27*	probably null	Het
1700061G19Rik	A	T	17: 56,882,888	I305F	possibly damaging	Het
3110035E14Rik	G	T	1: 9,622,677	G145*	probably null	Het
Acad11	T	C	9: 104,124,028	I591T	probably benign	Het
Adamts13	G	A	2: 26,993,008	E857K	probably benign	Het
Apopt1	C	A	12: 111,722,774	Q97K	possibly damaging	Het
Atf2	A	C	2: 73,829,790		probably null	Het
Cass4	C	A	2: 172,432,324	A675E	probably damaging	Het
Ctsd	A	T	7: 142,377,144	L283Q	probably damaging	Het
Ddrgk1	A	T	2: 130,663,376	M1K	probably null	Het
Dock1	G	A	7: 134,734,062	A62T	possibly damaging	Het
Ehmt1	T	C	2: 24,858,195	D407G	possibly damaging	Het
Eml6	A	G	11: 30,024,467	V37A	probably damaging	Het
Fam20a	C	T	11: 109,673,370	R519Q	probably benign	Het
Fam69b	C	T	2: 26,636,248	T398M	possibly damaging	Het
Fat1	A	G	8: 44,952,512	T767A	probably benign	Het
Fbxl8	A	T	8: 105,268,906	H350L	possibly damaging	Het
Gm10226	A	C	17: 21,691,927	Q23P	possibly damaging	Het
Gm17677	T	A	9: 35,741,588	L42*	probably null	Het
Gm2075	T	A	12: 88,012,117	D90E	possibly damaging	Het
Gm21994	A	T	2: 150,255,215	I98K	probably damaging	Het
Gm38706	A	T	6: 130,482,905		noncoding transcript	Het
Gpatch2l	G	T	12: 86,267,176	R362L	probably benign	Het
H2afy	T	C	13: 56,089,781	D222G	probably benign	Het
Hyal5	A	T	6: 24,891,603	D472V	probably benign	Het
Ighv5-9-1	T	C	12: 113,736,157	S102G	possibly damaging	Het
Itpripl1	A	C	2: 127,141,857	L115R	probably damaging	Het
Itsn1	G	A	16: 91,908,838	C169Y	possibly damaging	Het
Krt88	T	A	15: 101,450,468	C12S	probably benign	Het
Muc4	G	A	16: 32,762,521	V2557M	probably damaging	Het
Myh7b	G	C	2: 155,632,373	R1669S	possibly damaging	Het
Nbeal2	G	T	9: 110,629,868	Q1996K	probably benign	Het
Obscn	T	C	11: 59,028,604	E6205G	probably damaging	Het
Obscn	A	G	11: 59,064,310	Y3926H	possibly damaging	Het
Olfr1436	A	T	19: 12,298,789	S114R	probably damaging	Het
Olfr305	T	C	7: 86,364,338		probably null	Het
P2ry2	A	T	7: 100,998,929	Y56*	probably null	Het
Pde1a	T	C	2: 79,878,144	N242S	probably null	Het
Pik3cg	C	T	12: 32,204,978	E337K	possibly damaging	Het
Plxna2	A	G	1: 194,751,404	N587S	probably benign	Het
Pmpca	T	C	2: 26,395,171		probably null	Het
Ptpn4	C	T	1: 119,707,863	W370*	probably null	Het
Qk	A	T	17: 10,215,490		probably null	Het
Rapgef3	A	G	15: 97,757,725	V427A	probably damaging	Het
Rbbp8	T	G	18: 11,722,114	D465E	probably damaging	Het
Scn2a	A	G	2: 65,764,591	K1928R	probably benign	Het
Slc5a5	A	C	8: 70,888,848	C346G	probably damaging	Het
Spata2l	A	G	8: 123,235,549	L91P	probably damaging	Het
Syt3	C	A	7: 44,396,015	H560N	possibly damaging	Het
Timm23	G	A	14: 32,193,925	P63L	probably damaging	Het
Tmem191c	T	C	16: 17,276,879	S108P	possibly damaging	Het
Ttc21b	A	G	2: 66,229,023	C545R	probably damaging	Het
Ttc23l	G	T	15: 10,551,550	T30K	possibly damaging	Het
Usp17ld	A	T	7: 103,250,372	L451*	probably null	Het
Vmn1r15	T	C	6: 57,258,512	Y122H	probably benign	Het

Other mutations in 4930407I10Rik

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00232:4930407I10Rik	APN	15	82066380	missense	probably benign	0.00
IGL02135:4930407I10Rik	APN	15	82065004	missense	possibly damaging	0.63
IGL02367:4930407I10Rik	APN	15	82065547	missense	probably benign	0.00
IGL02626:4930407I10Rik	APN	15	82065609	missense	probably damaging	0.99
IGL02885:4930407I10Rik	APN	15	82063951	missense	probably benign	0.36
IGL03199:4930407I10Rik	APN	15	82062355	missense	possibly damaging	0.65
R0062:4930407I10Rik	UTSW	15	82063066	missense	probably benign	0.00
R0062:4930407I10Rik	UTSW	15	82066303	missense	probably damaging	0.98
R0086:4930407I10Rik	UTSW	15	82062601	missense	probably benign	0.11
R0578:4930407I10Rik	UTSW	15	82059355	missense	possibly damaging	0.49
R1130:4930407I10Rik	UTSW	15	82059360	missense	probably benign
R1218:4930407I10Rik	UTSW	15	82064152	missense	probably benign	0.04
R1942:4930407I10Rik	UTSW	15	82065424	missense	probably damaging	0.98
R2380:4930407I10Rik	UTSW	15	82064835	missense	possibly damaging	0.92
R3945:4930407I10Rik	UTSW	15	82065400	missense	probably damaging	1.00
R4096:4930407I10Rik	UTSW	15	82062205	missense	probably benign	0.07
R4259:4930407I10Rik	UTSW	15	82063726	missense	possibly damaging	0.89
R4261:4930407I10Rik	UTSW	15	82063726	missense	possibly damaging	0.89
R4805:4930407I10Rik	UTSW	15	82066427	nonsense	probably null
R4992:4930407I10Rik	UTSW	15	82064002	missense	possibly damaging	0.60
R5094:4930407I10Rik	UTSW	15	82062682	missense	possibly damaging	0.72
R5201:4930407I10Rik	UTSW	15	82062544	missense	probably benign	0.26
R5305:4930407I10Rik	UTSW	15	82059219	missense	possibly damaging	0.52
R5588:4930407I10Rik	UTSW	15	82065216	missense	possibly damaging	0.83
R5844:4930407I10Rik	UTSW	15	82065864	missense	probably benign	0.33
R6007:4930407I10Rik	UTSW	15	82062739	missense	probably benign	0.13
R6157:4930407I10Rik	UTSW	15	82063416	missense	possibly damaging	0.67
R6188:4930407I10Rik	UTSW	15	82059270	missense	probably benign	0.01
R6350:4930407I10Rik	UTSW	15	82063563	missense	possibly damaging	0.55
R6408:4930407I10Rik	UTSW	15	82065106	missense	possibly damaging	0.77
R6805:4930407I10Rik	UTSW	15	82062543	missense	possibly damaging	0.95
R6911:4930407I10Rik	UTSW	15	82063867	missense	probably benign	0.01
R6962:4930407I10Rik	UTSW	15	82064949	missense	probably benign	0.14
R7446:4930407I10Rik	UTSW	15	82066240	missense	probably benign
R7492:4930407I10Rik	UTSW	15	82064359	missense	possibly damaging	0.63
R7699:4930407I10Rik	UTSW	15	82064105	missense	probably benign	0.04
R7700:4930407I10Rik	UTSW	15	82064105	missense	probably benign	0.04
R7963:4930407I10Rik	UTSW	15	82063936	missense	possibly damaging	0.79
R8215:4930407I10Rik	UTSW	15	82065100	missense	probably benign	0.01
R8257:4930407I10Rik	UTSW	15	82065952	missense	probably benign	0.22
R8311:4930407I10Rik	UTSW	15	82063239	missense	possibly damaging	0.77
R8436:4930407I10Rik	UTSW	15	82065735	missense	possibly damaging	0.48
R8530:4930407I10Rik	UTSW	15	82065386	missense	probably damaging	0.99
R8531:4930407I10Rik	UTSW	15	82066421	missense	probably benign	0.02
R8886:4930407I10Rik	UTSW	15	82065850	missense	probably damaging	0.99
R9109:4930407I10Rik	UTSW	15	82063414	missense	probably benign	0.00
R9298:4930407I10Rik	UTSW	15	82063414	missense	probably benign	0.00
R9424:4930407I10Rik	UTSW	15	82063642	missense	probably benign	0.00
R9576:4930407I10Rik	UTSW	15	82063642	missense	probably benign	0.00
R9654:4930407I10Rik	UTSW	15	82064715	missense	possibly damaging	0.95
R9696:4930407I10Rik	UTSW	15	82065496	missense	probably benign
R9710:4930407I10Rik	UTSW	15	82062651	missense	probably benign
RF004:4930407I10Rik	UTSW	15	82059349	missense	possibly damaging	0.82
X0011:4930407I10Rik	UTSW	15	82059285	missense	probably damaging	1.00
X0026:4930407I10Rik	UTSW	15	82063311	nonsense	probably null

Predicted Primers

PCR Primer
(F):5'- TCCAACACTGGGGAAGAATG -3'
(R):5'- AAGCCCAGTTCAACTTCCTG -3'

Sequencing Primer
(F):5'- AGGCTGAGGTCGAGGCC -3'
(R):5'- AACTTCCTGTCTTGACAGATTCTGG -3'

Posted On

2016-06-21