Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL03092:5430419D17Rik'

418431

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

5430419D17Rik

Ensembl Gene

ENSMUSG00000006204

Gene Name

RIKEN cDNA 5430419D17 gene

Synonyms

Accession Numbers

Is this an essential gene?

Non essential (E-score: 0.000) question?

Stock #

IGL03092

Quality Score

Status

Chromosome

Chromosomal Location

131174402-131306451 bp(+) (GRCm38)

Type of Mutation

critical splice donor site (1 bp from exon)

DNA Base Change (assembly)

G to T at 131201798 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000150784 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000050586] [ENSMUST00000124096] [ENSMUST00000208921]

AlphaFold

no structure available at present

Predicted Effect

probably null
Transcript: ENSMUST00000050586

SMART Domains

Protein: ENSMUSP00000061529
Gene: ENSMUSG00000006204

Domain	Start	End	E-Value	Type
signal peptide	1	23	N/A	INTRINSIC
low complexity region	85	105	N/A	INTRINSIC
SR	144	244	3.3e-57	SMART
CUB	272	378	1.2e-16	SMART
SR	428	528	3.9e-56	SMART
low complexity region	533	548	N/A	INTRINSIC
CUB	556	667	5.1e-38	SMART
SR	680	780	1.5e-57	SMART
Pfam:CUB	795	840	3.1e-9	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000124096

SMART Domains

Protein: ENSMUSP00000130971
Gene: ENSMUSG00000030849

Domain	Start	End	E-Value	Type
Pfam:Pkinase	1	118	4.8e-19	PFAM
Pfam:Pkinase_Tyr	1	118	1.7e-50	PFAM
low complexity region	146	160	N/A	INTRINSIC

Predicted Effect

probably null
Transcript: ENSMUST00000208921

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 36 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700006A11Rik	A	G	3: 124,406,470	L491P	probably damaging	Het
Abcc6	T	A	7: 45,986,470	D1051V	probably damaging	Het
Aqr	T	A	2: 114,158,943	E133V	probably benign	Het
Bag6	A	G	17: 35,145,627	N911D	probably damaging	Het
BC024978	T	C	7: 27,201,136	M180T	probably damaging	Het
Ces4a	C	T	8: 105,148,204		probably benign	Het
Clec3b	A	T	9: 123,151,035		probably benign	Het
Cnot1	T	C	8: 95,769,615		probably benign	Het
Ctsg	T	A	14: 56,099,960	*262L	probably null	Het
Cyp17a1	T	A	19: 46,672,611	H78L	possibly damaging	Het
Dcaf13	C	A	15: 39,127,976		probably benign	Het
Dcun1d1	G	T	3: 35,920,992	Q52K	possibly damaging	Het
Ddb1	C	T	19: 10,612,945	R279W	probably damaging	Het
Dock1	A	G	7: 134,765,216		probably benign	Het
Dsel	A	G	1: 111,860,063	L914P	probably damaging	Het
Fbxo31	A	G	8: 121,560,018	F174L	probably benign	Het
Gm9116	A	G	3: 93,910,206		noncoding transcript	Het
Gspt1	C	T	16: 11,238,899	V211I	probably benign	Het
Hmgb1	A	T	5: 149,050,698	S14T	probably benign	Het
Igsf8	A	G	1: 172,312,529		probably benign	Het
Klf13	A	G	7: 63,891,669	F237L	probably damaging	Het
Mon2	A	T	10: 123,018,100	I962N	probably damaging	Het
Nfx1	A	G	4: 41,024,851	D1108G	probably damaging	Het
Nr2e1	T	C	10: 42,571,482	Y178C	probably damaging	Het
Olfr1426	C	A	19: 12,087,866	E309*	probably null	Het
Olfr646	A	T	7: 104,106,647	I123F	probably damaging	Het
Pde3b	A	T	7: 114,523,348	H717L	probably damaging	Het
Polr1b	T	C	2: 129,123,129	Y712H	probably damaging	Het
Pramef25	C	A	4: 143,950,197	K112N	probably damaging	Het
Rnf157	T	A	11: 116,347,969		probably null	Het
Ros1	T	C	10: 52,098,806	E1561G	probably damaging	Het
Serpina6	A	G	12: 103,653,895		probably null	Het
St18	A	G	1: 6,768,894		probably benign	Het
Ugp2	A	G	11: 21,329,722		probably benign	Het
Vmn1r70	T	C	7: 10,634,259	S225P	probably benign	Het
Zfp641	T	C	15: 98,290,516	D161G	probably damaging	Het

Other mutations in 5430419D17Rik

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00226:5430419D17Rik	APN	7	131238094	splice site	probably null
IGL00848:5430419D17Rik	APN	7	131246724	missense	probably damaging	1.00
IGL00966:5430419D17Rik	APN	7	131243107	nonsense	probably null
IGL01286:5430419D17Rik	APN	7	131246703	missense	probably damaging	1.00
IGL01303:5430419D17Rik	APN	7	131194331	missense	possibly damaging	0.53
IGL01585:5430419D17Rik	APN	7	131244758	missense	probably damaging	0.97
IGL01665:5430419D17Rik	APN	7	131246657	nonsense	probably null
IGL01953:5430419D17Rik	APN	7	131224980	missense	probably benign	0.04
IGL02427:5430419D17Rik	APN	7	131244788	missense	probably damaging	0.99
IGL02508:5430419D17Rik	APN	7	131222830	missense	probably damaging	1.00
IGL02678:5430419D17Rik	APN	7	131228917	missense	probably damaging	1.00
IGL03122:5430419D17Rik	APN	7	131196514	missense	possibly damaging	0.68
IGL03343:5430419D17Rik	APN	7	131246691	missense	probably damaging	1.00
R0011:5430419D17Rik	UTSW	7	131229993	missense	probably damaging	0.99
R0011:5430419D17Rik	UTSW	7	131229993	missense	probably damaging	0.99
R0234:5430419D17Rik	UTSW	7	131194303	splice site	probably null
R0234:5430419D17Rik	UTSW	7	131194303	splice site	probably null
R0268:5430419D17Rik	UTSW	7	131238176	missense	probably damaging	1.00
R0383:5430419D17Rik	UTSW	7	131239539	missense	probably benign	0.05
R0973:5430419D17Rik	UTSW	7	131238182	missense	probably damaging	1.00
R0973:5430419D17Rik	UTSW	7	131238182	missense	probably damaging	1.00
R0974:5430419D17Rik	UTSW	7	131238182	missense	probably damaging	1.00
R1572:5430419D17Rik	UTSW	7	131244831	nonsense	probably null
R1911:5430419D17Rik	UTSW	7	131238089	missense	probably damaging	1.00
R2032:5430419D17Rik	UTSW	7	131243052	missense	probably damaging	1.00
R2097:5430419D17Rik	UTSW	7	131181964	nonsense	probably null
R2221:5430419D17Rik	UTSW	7	131247457	critical splice acceptor site	probably null
R2223:5430419D17Rik	UTSW	7	131247457	critical splice acceptor site	probably null
R2254:5430419D17Rik	UTSW	7	131222905	missense	probably damaging	1.00
R2913:5430419D17Rik	UTSW	7	131182024	missense	possibly damaging	0.90
R2991:5430419D17Rik	UTSW	7	131246700	missense	probably damaging	1.00
R3439:5430419D17Rik	UTSW	7	131188779	critical splice donor site	probably null
R4418:5430419D17Rik	UTSW	7	131247465	missense	possibly damaging	0.86
R4916:5430419D17Rik	UTSW	7	131174477	splice site	probably null
R5488:5430419D17Rik	UTSW	7	131246595	missense	probably damaging	1.00
R5594:5430419D17Rik	UTSW	7	131239523	missense	probably benign	0.12
R5897:5430419D17Rik	UTSW	7	131196551	splice site	probably null
R5898:5430419D17Rik	UTSW	7	131241967	splice site	probably null
R5940:5430419D17Rik	UTSW	7	131238263	missense	probably damaging	1.00
R6170:5430419D17Rik	UTSW	7	131174487	splice site	probably null
R6187:5430419D17Rik	UTSW	7	131270599	intron	probably benign
R6321:5430419D17Rik	UTSW	7	131257006	critical splice donor site	probably null
R6409:5430419D17Rik	UTSW	7	131262071	intron	probably benign
R6432:5430419D17Rik	UTSW	7	131244872	critical splice donor site	probably null
R6481:5430419D17Rik	UTSW	7	131256801	missense	probably benign	0.05
R6750:5430419D17Rik	UTSW	7	131288245	intron	probably benign
R6783:5430419D17Rik	UTSW	7	131226764	missense	probably damaging	0.99
R6836:5430419D17Rik	UTSW	7	131196504	missense	possibly damaging	0.84
R6925:5430419D17Rik	UTSW	7	131222707	missense	possibly damaging	0.92
R6995:5430419D17Rik	UTSW	7	131222671	missense	probably damaging	1.00
R7199:5430419D17Rik	UTSW	7	131235912	nonsense	probably null
R7205:5430419D17Rik	UTSW	7	131277623	critical splice donor site	probably null
R7340:5430419D17Rik	UTSW	7	131277615	missense	unknown
R7354:5430419D17Rik	UTSW	7	131256729	missense	possibly damaging	0.84
R7354:5430419D17Rik	UTSW	7	131272033	missense	unknown
R7434:5430419D17Rik	UTSW	7	131279483	missense	unknown
R7485:5430419D17Rik	UTSW	7	131228833	missense	probably damaging	0.99
R7513:5430419D17Rik	UTSW	7	131272071	missense	unknown
R7562:5430419D17Rik	UTSW	7	131302697	missense	unknown
R7623:5430419D17Rik	UTSW	7	131277566	splice site	probably null
R7782:5430419D17Rik	UTSW	7	131302737	splice site	probably null
R7879:5430419D17Rik	UTSW	7	131243142	missense	probably damaging	0.98
R7935:5430419D17Rik	UTSW	7	131250476	missense	probably damaging	0.96
R7949:5430419D17Rik	UTSW	7	131293595	splice site	probably null
R7964:5430419D17Rik	UTSW	7	131298234	missense	unknown
R7980:5430419D17Rik	UTSW	7	131234777	missense	probably damaging	0.98
R8145:5430419D17Rik	UTSW	7	131296316	missense	unknown
R8673:5430419D17Rik	UTSW	7	131243117	missense	probably damaging	0.99
R8684:5430419D17Rik	UTSW	7	131235959	nonsense	probably null
R8721:5430419D17Rik	UTSW	7	131277606	missense	unknown
R8725:5430419D17Rik	UTSW	7	131273756	missense	unknown
R8727:5430419D17Rik	UTSW	7	131273756	missense	unknown
R8742:5430419D17Rik	UTSW	7	131182012	missense	unknown
R8807:5430419D17Rik	UTSW	7	131244778	missense	probably damaging	0.97
R8822:5430419D17Rik	UTSW	7	131241977	critical splice acceptor site	probably null
R8861:5430419D17Rik	UTSW	7	131259961	nonsense	probably null
R8897:5430419D17Rik	UTSW	7	131265837	missense	unknown
R8900:5430419D17Rik	UTSW	7	131302468	intron	probably benign
R9214:5430419D17Rik	UTSW	7	131222752	missense	possibly damaging	0.89
R9218:5430419D17Rik	UTSW	7	131261999	missense	unknown
R9311:5430419D17Rik	UTSW	7	131257761	missense	unknown
R9323:5430419D17Rik	UTSW	7	131226672	missense	probably damaging	0.96
R9384:5430419D17Rik	UTSW	7	131302675	missense	unknown
R9387:5430419D17Rik	UTSW	7	131261891	missense	unknown
R9417:5430419D17Rik	UTSW	7	131250489	missense	possibly damaging	0.60
R9502:5430419D17Rik	UTSW	7	131235086	missense	possibly damaging	0.61
R9603:5430419D17Rik	UTSW	7	131228914	missense	probably damaging	0.98
R9642:5430419D17Rik	UTSW	7	131246528	missense	probably benign	0.01
Z1088:5430419D17Rik	UTSW	7	131246633	missense	probably damaging	1.00
Z1177:5430419D17Rik	UTSW	7	131265866	missense	unknown

Posted On

2016-08-02