Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL00340:4930430A15Rik'

7093

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

4930430A15Rik

Ensembl Gene

ENSMUSG00000027157

Gene Name

RIKEN cDNA 4930430A15 gene

Synonyms

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.061) question?

Stock #

IGL00340

Quality Score

Status

Chromosome

Chromosomal Location

111162061-111229602 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

G to T at 111220762 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Isoleucine at position 230 (L230I)

Ref Sequence

ENSEMBL: ENSMUSP00000028577 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000028577]

AlphaFold

Q05AC5

Predicted Effect

probably damaging
Transcript: ENSMUST00000028577
AA Change: L230I

PolyPhen 2 Score 0.984 (Sensitivity: 0.74; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000028577
Gene: ENSMUSG00000027157
AA Change: L230I

Domain	Start	End	E-Value	Type
ANK	78	107	1.61e-4	SMART
ANK	111	140	3.6e-2	SMART
ANK	144	173	4.89e-4	SMART
ANK	177	206	4.03e-5	SMART
ANK	210	239	8.72e-1	SMART
Blast:ANK	243	272	4e-12	BLAST
low complexity region	460	472	N/A	INTRINSIC

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 62 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adamts3	G	A	5: 89,701,666	H632Y	probably damaging	Het
Adgre5	T	A	8: 83,728,401	M221L	probably benign	Het
Apba2	A	T	7: 64,736,941	I439F	possibly damaging	Het
Arid1b	C	A	17: 5,321,284	N632K	probably damaging	Het
Bcas3	A	T	11: 85,365,591	I60L	probably damaging	Het
Brd9	T	C	13: 73,938,547	S56P	probably damaging	Het
Ccdc57	T	A	11: 120,860,469	D925V	possibly damaging	Het
Ccna1	A	G	3: 55,050,655	V143A	probably damaging	Het
Cdhr3	T	C	12: 33,052,209	T410A	probably benign	Het
Ddx60	G	T	8: 61,958,646	D511Y	probably damaging	Het
Drc7	C	A	8: 95,056,001		probably benign	Het
Dysf	A	G	6: 84,141,951	E1290G	probably benign	Het
Fam168b	T	C	1: 34,836,802	M1V	probably null	Het
Farsa	A	G	8: 84,864,257	K208R	probably damaging	Het
Fnip2	A	G	3: 79,518,061		probably benign	Het
Gm17535	A	T	9: 3,035,111	H170L	probably benign	Het
Gm4553	T	C	7: 142,165,227	S155G	unknown	Het
Gm5852	T	C	3: 93,727,194		noncoding transcript	Het
Gnb2	T	C	5: 137,530,706		probably benign	Het
Gpr158	A	G	2: 21,368,683	N143S	probably damaging	Het
Hcn1	C	A	13: 117,602,977	Q92K	unknown	Het
Helb	T	C	10: 120,098,245	I678V	possibly damaging	Het
Hnrnpl	C	A	7: 28,813,373	A118D	probably damaging	Het
Klhl14	G	A	18: 21,651,864	P169S	probably benign	Het
Kndc1	T	C	7: 139,901,988		probably benign	Het
Lmod2	A	G	6: 24,598,052	E57G	probably damaging	Het
Lrch4	T	C	5: 137,637,747	I300T	possibly damaging	Het
Lrp6	A	G	6: 134,456,090	V1426A	probably benign	Het
Lrrc39	A	G	3: 116,570,981		probably benign	Het
Mamstr	G	A	7: 45,644,285	V262I	probably benign	Het
Mob1b	A	T	5: 88,756,155	T217S	probably benign	Het
Mocs3	G	A	2: 168,231,491	R286H	possibly damaging	Het
Mpo	A	T	11: 87,802,617	Q27L	probably benign	Het
Ncdn	A	T	4: 126,747,188	D506E	probably benign	Het
Noxa1	A	G	2: 25,094,902	I8T	probably benign	Het
Olfr46	T	A	7: 140,610,753	S196T	probably damaging	Het
Olfr514	C	T	7: 108,825,073	V309I	probably benign	Het
Olfr878	A	G	9: 37,919,050	Y131C	probably damaging	Het
Oma1	G	T	4: 103,319,368	A110S	probably benign	Het
Pde4a	A	C	9: 21,211,061	K694T	probably benign	Het
Phc1	A	G	6: 122,322,999		probably benign	Het
Pias1	A	G	9: 62,923,296	V187A	probably damaging	Het
Pifo	A	G	3: 106,014,508	V33A	probably benign	Het
Pigf	C	A	17: 87,020,448	L130F	probably null	Het
Pkd1	G	T	17: 24,580,095	V2763L	probably damaging	Het
Ppp1r8	T	C	4: 132,834,681	Y76C	probably damaging	Het
Ppp6r3	C	A	19: 3,518,324	G158V	probably damaging	Het
Ptpn13	A	G	5: 103,551,058	I1136V	probably damaging	Het
Ptprq	T	C	10: 107,576,929	I1770V	probably damaging	Het
Rhpn2	A	T	7: 35,370,760	I148F	probably damaging	Het
Stard3	T	C	11: 98,377,459	Y239H	probably damaging	Het
Stau1	T	C	2: 166,950,809	Y412C	probably benign	Het
Sucnr1	A	G	3: 60,086,632	I194V	probably benign	Het
Tanc1	A	G	2: 59,790,841	T335A	possibly damaging	Het
Tmem126a	T	C	7: 90,452,755	T79A	probably benign	Het
Trav9-2	A	T	14: 53,591,383	Y70F	probably benign	Het
Tspear	A	G	10: 77,873,236	E432G	probably benign	Het
Ube2o	T	C	11: 116,544,754	R403G	probably benign	Het
Unc80	C	A	1: 66,606,459	S1431R	possibly damaging	Het
Usp24	G	A	4: 106,401,139	C1578Y	probably damaging	Het
Vsig10	A	T	5: 117,351,587	M473L	probably benign	Het
Xpot	T	A	10: 121,605,644	M559L	probably benign	Het

Other mutations in 4930430A15Rik

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01403:4930430A15Rik	APN	2	111229170	unclassified	probably benign
IGL01431:4930430A15Rik	APN	2	111225395	unclassified	probably benign
IGL01601:4930430A15Rik	APN	2	111193478	missense	unknown
IGL01649:4930430A15Rik	APN	2	111214576	splice site	probably benign
IGL02355:4930430A15Rik	APN	2	111211651	splice site	probably benign
IGL02362:4930430A15Rik	APN	2	111211651	splice site	probably benign
IGL02485:4930430A15Rik	APN	2	111228325	missense	probably damaging	0.97
IGL02620:4930430A15Rik	APN	2	111211625	missense	probably benign	0.00
IGL03156:4930430A15Rik	APN	2	111200412	missense	possibly damaging	0.90
IGL02980:4930430A15Rik	UTSW	2	111164473	missense	unknown
R0577:4930430A15Rik	UTSW	2	111194349	missense	probably benign	0.27
R0638:4930430A15Rik	UTSW	2	111200418	missense	probably damaging	0.96
R0645:4930430A15Rik	UTSW	2	111214583	critical splice donor site	probably null
R0671:4930430A15Rik	UTSW	2	111204137	missense	possibly damaging	0.93
R0829:4930430A15Rik	UTSW	2	111198105	missense	possibly damaging	0.92
R1464:4930430A15Rik	UTSW	2	111225403	critical splice donor site	probably null
R1464:4930430A15Rik	UTSW	2	111225403	critical splice donor site	probably null
R1486:4930430A15Rik	UTSW	2	111200358	missense	possibly damaging	0.84
R1509:4930430A15Rik	UTSW	2	111218627	missense	probably benign
R1672:4930430A15Rik	UTSW	2	111220774	missense	probably benign	0.00
R2073:4930430A15Rik	UTSW	2	111200418	missense	probably damaging	0.96
R2074:4930430A15Rik	UTSW	2	111200418	missense	probably damaging	0.96
R2075:4930430A15Rik	UTSW	2	111200418	missense	probably damaging	0.96
R2899:4930430A15Rik	UTSW	2	111220670	splice site	probably benign
R2965:4930430A15Rik	UTSW	2	111204019	missense	possibly damaging	0.61
R3110:4930430A15Rik	UTSW	2	111228054	missense	probably damaging	1.00
R3112:4930430A15Rik	UTSW	2	111228054	missense	probably damaging	1.00
R4489:4930430A15Rik	UTSW	2	111220702	missense	probably benign	0.31
R4821:4930430A15Rik	UTSW	2	111204145	critical splice acceptor site	probably null
R4925:4930430A15Rik	UTSW	2	111218616	missense	probably benign	0.41
R5045:4930430A15Rik	UTSW	2	111193459	missense	unknown
R5057:4930430A15Rik	UTSW	2	111225421	missense	probably benign	0.12
R5128:4930430A15Rik	UTSW	2	111164329	nonsense	probably null
R5250:4930430A15Rik	UTSW	2	111228077	missense	possibly damaging	0.87
R5333:4930430A15Rik	UTSW	2	111194337	missense	possibly damaging	0.92
R5376:4930430A15Rik	UTSW	2	111215599	missense	probably benign	0.44
R5677:4930430A15Rik	UTSW	2	111211565	missense	probably benign
R5722:4930430A15Rik	UTSW	2	111204123	missense	probably benign
R5735:4930430A15Rik	UTSW	2	111225492	nonsense	probably null
R6170:4930430A15Rik	UTSW	2	111227948	missense	probably benign	0.03
R6366:4930430A15Rik	UTSW	2	111169592	critical splice donor site	probably null
R6496:4930430A15Rik	UTSW	2	111164472	missense	unknown
R6654:4930430A15Rik	UTSW	2	111171884	missense	unknown
R6983:4930430A15Rik	UTSW	2	111228250	critical splice donor site	probably null
R7371:4930430A15Rik	UTSW	2	111193481	missense	unknown
R7958:4930430A15Rik	UTSW	2	111170325	missense	unknown
R8421:4930430A15Rik	UTSW	2	111218610	nonsense	probably null
R8495:4930430A15Rik	UTSW	2	111229410	start codon destroyed	probably null	0.33
R8534:4930430A15Rik	UTSW	2	111228035	missense	possibly damaging	0.92
R8671:4930430A15Rik	UTSW	2	111229532	unclassified	probably benign
R8679:4930430A15Rik	UTSW	2	111229222	missense	possibly damaging	0.73
R8743:4930430A15Rik	UTSW	2	111169672	missense	unknown
R8983:4930430A15Rik	UTSW	2	111200356	missense	probably benign	0.00
R9213:4930430A15Rik	UTSW	2	111190354	missense	unknown
R9457:4930430A15Rik	UTSW	2	111170286	missense	unknown
R9723:4930430A15Rik	UTSW	2	111228355	missense	probably damaging	0.97
R9745:4930430A15Rik	UTSW	2	111169663	missense	unknown

Posted On

2012-04-20