Mutagenetix > Incidental Mutation

Incidental Mutation 'R5735:4930430A15Rik'

451633

Institutional Source

Beutler Lab

Gene Symbol

4930430A15Rik

Ensembl Gene

ENSMUSG00000027157

Gene Name

RIKEN cDNA 4930430A15 gene

Synonyms

MMRRC Submission

043349-MU

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.055) question?

Stock #

R5735 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

111162061-111229602 bp(-) (GRCm38)

Type of Mutation

nonsense

DNA Base Change (assembly)

A to T at 111225492 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Stop codon at position 183 (L183*)

Ref Sequence

ENSEMBL: ENSMUSP00000028577 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000028577] [ENSMUST00000216421] [ENSMUST00000217539]

AlphaFold

Q05AC5

Predicted Effect

probably null
Transcript: ENSMUST00000028577
AA Change: L183*

SMART Domains

Protein: ENSMUSP00000028577
Gene: ENSMUSG00000027157
AA Change: L183*

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 benign
Transcript: ENSMUST00000216421

Predicted Effect

probably benign
Transcript: ENSMUST00000217539

Coding Region Coverage

1x: 99.0%
3x: 98.3%
10x: 96.8%
20x: 94.4%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 67 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2700081O15Rik	A	G	19: 7,422,796	E209G	probably benign	Het
9130019O22Rik	G	T	7: 127,385,407	H174Q	possibly damaging	Het
Adamts16	C	A	13: 70,836,218	D109Y	possibly damaging	Het
Armc8	T	A	9: 99,497,394		probably null	Het
Atg4b	G	T	1: 93,773,797	G71V	probably damaging	Het
Atp10b	A	T	11: 43,151,774	M54L	probably benign	Het
Baiap2l1	A	G	5: 144,286,302	L75P	probably damaging	Het
Bnc2	A	C	4: 84,292,671	L487R	probably damaging	Het
C330027C09Rik	T	A	16: 49,017,493		probably null	Het
Cacng7	T	C	7: 3,339,023	S141P	probably benign	Het
Carmil2	G	A	8: 105,698,031	G1361D	probably damaging	Het
Cenpf	T	C	1: 189,654,363	I1907V	probably benign	Het
Cep192	T	C	18: 67,880,795	V2422A	probably benign	Het
Cfap73	T	A	5: 120,632,606	Q33L	probably benign	Het
Cmtm2a	A	T	8: 104,292,786	I57N	probably damaging	Het
Col6a2	T	A	10: 76,599,893	D836V	probably benign	Het
Dnah2	A	G	11: 69,430,817	V3839A	possibly damaging	Het
Enpp1	A	T	10: 24,654,919	F546L	possibly damaging	Het
Eps8l2	A	G	7: 141,360,377	T507A	probably damaging	Het
Erg28	C	T	12: 85,816,152	E129K	probably benign	Het
Erlec1	A	T	11: 30,950,591	N153K	probably benign	Het
Fam234a	T	C	17: 26,213,705	E490G	probably damaging	Het
Fat4	C	T	3: 38,949,576	R1815C	probably damaging	Het
Galnt1	T	G	18: 24,264,520	I226S	possibly damaging	Het
Gm13088	A	T	4: 143,654,635	C273S	probably damaging	Het
Ifnl2	T	A	7: 28,510,189	I58F	possibly damaging	Het
Itih5	A	G	2: 10,240,761	N554D	probably benign	Het
Kcna10	A	G	3: 107,195,078	I342V	probably benign	Het
Kif6	G	A	17: 49,832,182	E561K	probably damaging	Het
Kl	A	G	5: 150,991,538	N910S	possibly damaging	Het
Lpar2	G	T	8: 69,823,735	R58L	probably damaging	Het
Macrod2	A	G	2: 140,418,889	T27A	possibly damaging	Het
Mfsd2a	A	T	4: 122,949,327	V387D	probably damaging	Het
Npas3	A	T	12: 54,003,479	T231S	probably benign	Het
Olfr1100	A	G	2: 86,978,700	V32A	probably benign	Het
Olfr1107	A	T	2: 87,071,412	C241S	probably damaging	Het
Olfr1242	A	T	2: 89,493,468	N281K	probably damaging	Het
Olfr669	A	T	7: 104,938,759	T78S	probably benign	Het
Otx1	C	A	11: 21,997,037	A91S	probably damaging	Het
Pde10a	A	T	17: 8,941,192	I432F	probably damaging	Het
Phka2	ACC	AC	X: 160,559,866		probably null	Het
Pomt1	G	A	2: 32,243,505	G218R	probably damaging	Het
Prdm5	C	T	6: 65,927,990	T157I	possibly damaging	Het
Psen2	T	A	1: 180,240,926	E54V	probably benign	Het
Ptpn13	C	A	5: 103,554,820	H1217Q	probably benign	Het
Ptprt	A	G	2: 161,534,564	S1306P	probably damaging	Het
Ptpru	G	T	4: 131,838,090	P23T	probably benign	Het
Rtn3	T	C	19: 7,456,692	E626G	probably damaging	Het
Scn3a	A	T	2: 65,482,278	M1191K	probably damaging	Het
Scn3a	T	A	2: 65,484,459	N1086I	probably benign	Het
Sgms2	A	T	3: 131,336,217	M174K	probably damaging	Het
Skor1	T	A	9: 63,146,064	I180F	probably damaging	Het
Slit2	T	G	5: 48,259,616	C1003W	probably damaging	Het
Tbc1d2b	T	A	9: 90,222,409	Q560L	possibly damaging	Het
Tcrg-V5	T	G	13: 19,192,525	H47Q	probably benign	Het
Themis	A	G	10: 28,722,534	I51V	probably benign	Het
Tmem203	T	C	2: 25,256,073	V135A	probably benign	Het
Tns1	T	C	1: 73,927,979	T1212A	probably benign	Het
Trim2	G	A	3: 84,167,722	A697V	probably damaging	Het
Ubxn4	T	C	1: 128,258,940	S37P	possibly damaging	Het
Vmn2r17	A	G	5: 109,452,850	I671M	possibly damaging	Het
Vmn2r94	G	T	17: 18,243,804	S741R	probably damaging	Het
Vwce	C	A	19: 10,647,067	D414E	probably benign	Het
Zfp397	T	C	18: 23,960,192	S245P	possibly damaging	Het
Zfp809	T	A	9: 22,238,931	Y241*	probably null	Het
Zfp995	C	T	17: 21,882,029	C29Y	probably benign	Het
Zfyve26	T	C	12: 79,273,373	D1066G	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
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
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'- AGGGTATAGGGAACTTTCAGGTTAG -3'
(R):5'- TAGACCCACAAGATAGTAGTCAAAG -3'

Sequencing Primer
(F):5'- ATAGGGAACTTTCAGGTTAGCATTTG -3'
(R):5'- GTCAAAGGGTCTTACTATCACAGG -3'

Posted On

2017-01-03