Mutagenetix > Incidental Mutation

Incidental Mutation 'R4821:4930430A15Rik'

370200

Institutional Source

Beutler Lab

Gene Symbol

4930430A15Rik

Ensembl Gene

ENSMUSG00000027157

Gene Name

RIKEN cDNA 4930430A15 gene

Synonyms

MMRRC Submission

042437-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.065) question?

Stock #

R4821 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

111162061-111229602 bp(-) (GRCm38)

Type of Mutation

critical splice acceptor site

DNA Base Change (assembly)

T to C at 111204145 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000117759 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000028577] [ENSMUST00000028577] [ENSMUST00000142636] [ENSMUST00000142636]

AlphaFold

Q05AC5

Predicted Effect

probably null
Transcript: ENSMUST00000028577

SMART Domains

Protein: ENSMUSP00000028577
Gene: ENSMUSG00000027157

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

Predicted Effect

probably null
Transcript: ENSMUST00000028577

SMART Domains

Protein: ENSMUSP00000028577
Gene: ENSMUSG00000027157

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

Predicted Effect

probably null
Transcript: ENSMUST00000142636

SMART Domains

Protein: ENSMUSP00000117759
Gene: ENSMUSG00000027157

Domain	Start	End	E-Value	Type
internal_repeat_1	1	69	7.48e-6	PROSPERO
internal_repeat_1	81	153	7.48e-6	PROSPERO
low complexity region	168	183	N/A	INTRINSIC

Predicted Effect

probably null
Transcript: ENSMUST00000142636

SMART Domains

Protein: ENSMUSP00000117759
Gene: ENSMUSG00000027157

Domain	Start	End	E-Value	Type
internal_repeat_1	1	69	7.48e-6	PROSPERO
internal_repeat_1	81	153	7.48e-6	PROSPERO
low complexity region	168	183	N/A	INTRINSIC

Meta Mutation Damage Score

0.9493

Coding Region Coverage

1x: 99.1%
3x: 98.3%
10x: 96.3%
20x: 92.5%

Validation Efficiency

100% (79/79)

Allele List at MGI

Other mutations in this stock

Total: 70 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4921539E11Rik	T	C	4: 103,235,674	K150R	probably damaging	Het
Aak1	T	C	6: 86,850,189	V46A	probably damaging	Het
Abcb9	T	C	5: 124,090,149	T10A	probably benign	Het
Acaca	A	G	11: 84,294,987	D116G	possibly damaging	Het
Adam33	G	A	2: 131,061,195	P43L	probably benign	Het
Adamtsl2	T	A	2: 27,098,592		probably null	Het
Akap13	A	G	7: 75,677,507		probably benign	Het
Art1	T	A	7: 102,107,178	L192Q	probably damaging	Het
Baalc	A	G	15: 38,933,180		probably benign	Het
Baz2a	A	G	10: 128,111,109	E164G	probably damaging	Het
Bcs1l	A	G	1: 74,591,985	I391V	probably benign	Het
Cacna1c	T	C	6: 118,696,425	T497A	probably damaging	Het
Cap2	C	A	13: 46,610,110	T164N	probably damaging	Het
Ccdc173	T	C	2: 69,782,108	E96G	possibly damaging	Het
Ccdc57	A	G	11: 120,860,399		probably null	Het
Ccdc88c	T	C	12: 100,938,079	N1120S	probably benign	Het
Chd7	T	A	4: 8,844,706	V1605D	probably damaging	Het
Col12a1	A	T	9: 79,715,340		probably benign	Het
Commd3	T	C	2: 18,672,528	S22P	probably benign	Het
Cpd	T	C	11: 76,846,237	I244V	probably benign	Het
Cpeb2	C	A	5: 43,233,474		probably benign	Het
Cyp2c65	A	G	19: 39,072,191	D165G	probably damaging	Het
Ddx1	T	C	12: 13,239,147	Y152C	probably damaging	Het
Dennd4a	G	A	9: 64,897,249	C1290Y	possibly damaging	Het
Ebf4	G	A	2: 130,307,045	M232I	probably benign	Het
Farp2	A	G	1: 93,574,470		probably null	Het
Frk	T	C	10: 34,484,237	V78A	probably benign	Het
Gm5799	A	G	14: 43,544,641	D90G	probably damaging	Het
Gpr45	C	G	1: 43,030,453		probably benign	Het
Hfm1	C	T	5: 106,854,740		probably null	Het
Igkv4-57-1	T	A	6: 69,544,403	D105V	probably damaging	Het
Impdh2-ps	A	G	8: 100,031,363		noncoding transcript	Het
Kctd4	G	A	14: 75,962,777	V63I	probably benign	Het
Lcn6	T	A	2: 25,680,810	L137M	probably damaging	Het
Lonrf1	T	C	8: 36,219,972	N737D	probably benign	Het
Mcu	C	T	10: 59,467,689	V109M	probably damaging	Het
Mecom	C	A	3: 29,985,351	K186N	probably damaging	Het
Muc4	T	C	16: 32,753,802	I1226T	probably benign	Het
Mybpc1	T	C	10: 88,548,865	D533G	probably damaging	Het
Nae1	A	C	8: 104,519,784	C294G	probably damaging	Het
Ncapg2	T	G	12: 116,415,457	H190Q	probably damaging	Het
Nkx2-2	A	T	2: 147,185,843	L59Q	possibly damaging	Het
Nrxn3	C	T	12: 90,204,709	T295I	probably damaging	Het
Obscn	C	T	11: 59,006,826		probably benign	Het
Obscn	A	T	11: 59,040,467	M5781K	probably damaging	Het
Olfr1285	T	C	2: 111,409,225		noncoding transcript	Het
Olfr1427	T	A	19: 12,098,746	M298L	probably benign	Het
Olfr739	A	G	14: 50,424,749	T77A	possibly damaging	Het
Pcdhb6	C	A	18: 37,334,328	P101T	probably damaging	Het
Pot1b	A	G	17: 55,672,885	S324P	possibly damaging	Het
Ppcdc	C	T	9: 57,434,911	V43I	probably benign	Het
Prr13	A	T	15: 102,460,685		probably benign	Het
Rab10os	T	A	12: 3,237,322		noncoding transcript	Het
Rabgap1	T	C	2: 37,532,519	S595P	probably damaging	Het
Rap1gap	T	C	4: 137,712,129	S126P	probably damaging	Het
Rgs6	A	T	12: 83,067,411		probably null	Het
Slc5a6	T	A	5: 31,036,884	K610*	probably null	Het
Sun5	C	T	2: 153,869,466	V27I	probably benign	Het
Tmco5b	T	C	2: 113,289,757	I126T	probably benign	Het
Tmed7	G	A	18: 46,593,413	Q92*	probably null	Het
Trav7d-2	A	G	14: 52,684,428	D98G	probably benign	Het
Trbv16	T	A	6: 41,152,002	L40Q	probably damaging	Het
Ush2a	T	C	1: 188,753,651	V2986A	probably benign	Het
Usp33	T	C	3: 152,358,673	V58A	probably benign	Het
Vmn2r94	T	A	17: 18,257,031	M373L	probably benign	Het
Ywhaq	T	C	12: 21,417,511		probably benign	Het
Zbbx	G	A	3: 75,081,747	H345Y	possibly damaging	Het
Zfp346	G	T	13: 55,113,813		probably benign	Het
Zfp616	C	T	11: 74,084,207	A434V	probably benign	Het
Zfp992	C	T	4: 146,467,519	H566Y	probably damaging	Het

Other mutations in 4930430A15Rik

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00340:4930430A15Rik	APN	2	111220762	missense	probably damaging	0.98
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
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

Predicted Primers

PCR Primer
(F):5'- AGGGTAGAATGCAAACATTTCAAAC -3'
(R):5'- TGATATACCAAGTCCATCTCATCAAAG -3'

Sequencing Primer
(F):5'- AATGATGTGATTCTGTCATTGTTCC -3'
(R):5'- AAGTCCATCTCATCAAAGACATAATC -3'

Posted On

2016-02-04