Mutagenetix > Incidental Mutations

Incidental Mutation 'R6945:5430403G16Rik'

540835

Institutional Source

Beutler Lab

Gene Symbol

5430403G16Rik

Ensembl Gene

ENSMUSG00000072763

Gene Name

RIKEN cDNA 5430403G16 gene

Synonyms

ENSMUSG00000072763

MMRRC Submission

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.111) question?

Stock #

R6945 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

109674545-109691041 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to C at 109676845 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Lysine at position 246 (N246K)

Ref Sequence

ENSEMBL: ENSMUSP00000090395 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000092720]

AlphaFold

D3Z5L4

Predicted Effect

probably benign
Transcript: ENSMUST00000092720
AA Change: N246K

PolyPhen 2 Score 0.247 (Sensitivity: 0.91; Specificity: 0.88)

SMART Domains

Protein: ENSMUSP00000090395
Gene: ENSMUSG00000072763
AA Change: N246K

Domain	Start	End	E-Value	Type
KRAB	4	60	2.47e-14	SMART
ZnF_C2H2	131	153	3.39e-3	SMART
ZnF_C2H2	159	181	3.95e-4	SMART
ZnF_C2H2	187	209	3.95e-4	SMART
ZnF_C2H2	215	237	1.12e-3	SMART
ZnF_C2H2	243	265	4.01e-5	SMART
ZnF_C2H2	271	293	7.78e-3	SMART
ZnF_C2H2	299	321	2.61e-4	SMART
ZnF_C2H2	327	349	1.36e-2	SMART
ZnF_C2H2	355	377	7.37e-4	SMART
ZnF_C2H2	383	405	1.3e-4	SMART
ZnF_C2H2	411	433	3.69e-4	SMART
ZnF_C2H2	439	461	4.3e-5	SMART
ZnF_C2H2	467	489	2.57e-3	SMART
ZnF_C2H2	495	517	2.61e-4	SMART
ZnF_C2H2	523	545	2.05e-2	SMART
ZnF_C2H2	551	573	5.59e-4	SMART
ZnF_C2H2	579	601	1.58e-3	SMART
ZnF_C2H2	607	629	9.08e-4	SMART
ZnF_C2H2	635	657	3.44e-4	SMART

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.3%
20x: 97.5%

Validation Efficiency

96% (51/53)

Allele List at MGI

Other mutations in this stock

Total: 54 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
AA792892	C	T	5: 94,383,631	H125Y	possibly damaging	Het
Abcc5	T	A	16: 20,400,009	T208S	probably benign	Het
Acaa2	A	G	18: 74,793,309	E112G	probably benign	Het
Adgrb1	A	G	15: 74,550,024	N881S	probably damaging	Het
Adgre1	A	G	17: 57,410,844	E314G	probably benign	Het
Adgre1	A	G	17: 57,420,399	E443G	probably benign	Het
Akp3	A	G	1: 87,125,631	Y102C	probably damaging	Het
Birc6	A	G	17: 74,579,531	N618S	probably benign	Het
Bpifc	A	G	10: 85,979,214	V296A	probably benign	Het
Cacna2d3	G	A	14: 28,969,318		probably benign	Het
Cacnb4	T	C	2: 52,474,954	N99S	probably damaging	Het
Cd38	A	G	5: 43,908,006	Y283C	probably damaging	Het
Celf4	T	A	18: 25,496,236	Q411L	probably damaging	Het
Cemip	A	T	7: 83,998,547	H108Q	probably damaging	Het
Col23a1	A	G	11: 51,561,893	E225G	unknown	Het
Dnah11	T	C	12: 118,060,310	E1902G	probably damaging	Het
Dst	A	G	1: 34,190,490	D2063G	probably damaging	Het
Fsip2	A	T	2: 82,992,840	I6306L	probably benign	Het
Furin	A	G	7: 80,391,090	S667P	possibly damaging	Het
Glmp	T	A	3: 88,325,832	S92R	probably benign	Het
Gm11563	C	G	11: 99,658,472	C152S	unknown	Het
Gm3486	A	G	14: 41,484,561	V185A	probably benign	Het
Gm4070	G	A	7: 105,901,980	Q622*	probably null	Het
Hyal1	C	A	9: 107,579,170	A102E	probably damaging	Het
Invs	T	C	4: 48,421,785	C806R	probably benign	Het
L1td1	T	C	4: 98,733,696	V165A	probably benign	Het
Lama1	A	G	17: 67,813,866	T2666A		Het
Lrit1	G	C	14: 37,060,095	V242L	probably damaging	Het
Lrrc8a	A	G	2: 30,256,227	Y351C	probably damaging	Het
Myh7b	T	C	2: 155,622,232	F551S	possibly damaging	Het
Myo19	A	G	11: 84,897,560	T333A	probably benign	Het
Nrp2	A	T	1: 62,760,788	N387I	probably damaging	Het
Oas2	T	C	5: 120,736,139	D543G	probably benign	Het
Olfr1040	A	G	2: 86,146,084	S217P	probably damaging	Het
Olfr117	A	G	17: 37,659,514	I273T	possibly damaging	Het
Pak7	A	G	2: 136,100,939	V427A	probably benign	Het
Pfas	G	A	11: 69,000,530	A247V	probably benign	Het
Psat1	T	A	19: 15,917,181	T115S	probably benign	Het
Psme4	T	A	11: 30,837,437	D1077E	probably benign	Het
Rabgap1l	A	G	1: 160,682,182	S442P	probably benign	Het
Ralgapa1	A	G	12: 55,776,191	M280T	possibly damaging	Het
Rb1cc1	A	T	1: 6,261,032	E394D	probably damaging	Het
Seh1l	T	C	18: 67,789,390	V271A	probably benign	Het
Sf3b1	A	T	1: 54,997,156	N919K	probably benign	Het
Sftpd	A	G	14: 41,174,492	S245P	possibly damaging	Het
Slc22a15	T	C	3: 101,924,114	E2G	probably damaging	Het
Spta1	A	G	1: 174,209,325	D1134G	possibly damaging	Het
Syna	A	G	5: 134,558,961	V378A	probably damaging	Het
Tchp	A	G	5: 114,709,350	K77E	possibly damaging	Het
Tescl	T	C	7: 24,333,531	N123S	probably benign	Het
Trio	C	T	15: 27,824,090	R1443Q	probably damaging	Het
Trrap	A	T	5: 144,790,855	Y462F	possibly damaging	Het
Vmn1r78	A	G	7: 12,152,905	T148A	probably benign	Het
Vmn2r111	T	C	17: 22,559,051	N549S	possibly damaging	Het

Other mutations in 5430403G16Rik

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01653:5430403G16Rik	APN	5	109677316	nonsense	probably null
IGL02547:5430403G16Rik	APN	5	109678762	critical splice donor site	probably null
IGL02589:5430403G16Rik	APN	5	109678520	missense	possibly damaging	0.95
BB007:5430403G16Rik	UTSW	5	109675756	nonsense	probably null
BB017:5430403G16Rik	UTSW	5	109675756	nonsense	probably null
R0363:5430403G16Rik	UTSW	5	109676888	missense	probably benign	0.03
R0628:5430403G16Rik	UTSW	5	109678576	critical splice acceptor site	probably null
R2858:5430403G16Rik	UTSW	5	109675953	missense	probably benign	0.02
R4914:5430403G16Rik	UTSW	5	109678530	missense	probably damaging	1.00
R4945:5430403G16Rik	UTSW	5	109677075	missense	possibly damaging	0.60
R5444:5430403G16Rik	UTSW	5	109675636	nonsense	probably null
R6000:5430403G16Rik	UTSW	5	109676864	missense	probably benign	0.19
R6258:5430403G16Rik	UTSW	5	109676567	missense	probably benign	0.01
R6389:5430403G16Rik	UTSW	5	109676019	missense	possibly damaging	0.84
R7225:5430403G16Rik	UTSW	5	109677149	missense	possibly damaging	0.69
R7581:5430403G16Rik	UTSW	5	109690788	start gained	probably benign
R7810:5430403G16Rik	UTSW	5	109677304	nonsense	probably null
R7930:5430403G16Rik	UTSW	5	109675756	nonsense	probably null
R8821:5430403G16Rik	UTSW	5	109676308	missense	probably benign	0.00
R8825:5430403G16Rik	UTSW	5	109678880	missense	probably damaging	1.00
R8831:5430403G16Rik	UTSW	5	109676308	missense	probably benign	0.00
R9179:5430403G16Rik	UTSW	5	109675842	missense	probably damaging	1.00
R9429:5430403G16Rik	UTSW	5	109676468	nonsense	probably null

Predicted Primers

PCR Primer
(F):5'- AGGCTTTGTCACATTGATCACATT -3'
(R):5'- ATGGTGAAGCCTTTGTACATCACA -3'

Sequencing Primer
(F):5'- GTCACATTGATCACATTCATAGGG -3'
(R):5'- TGGTAAAGCCTTTACAGGACACAGTC -3'

Posted On

2018-11-28