Mutagenetix > Incidental Mutation

Incidental Mutation 'R3973:4921501E09Rik'

312962

Institutional Source

Beutler Lab

Gene Symbol

4921501E09Rik

Ensembl Gene

ENSMUSG00000023350

Gene Name

RIKEN cDNA 4921501E09 gene

Synonyms

MMRRC Submission

040841-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.204) question?

Stock #

R3973 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

33064143-33068058 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 33066431 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Serine to Threonine at position 466 (S466T)

Ref Sequence

ENSEMBL: ENSMUSP00000024121 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000024121]

AlphaFold

no structure available at present

Predicted Effect

probably benign
Transcript: ENSMUST00000024121
AA Change: S466T

PolyPhen 2 Score 0.237 (Sensitivity: 0.91; Specificity: 0.88)

SMART Domains

Protein: ENSMUSP00000024121
Gene: ENSMUSG00000023350
AA Change: S466T

Domain	Start	End	E-Value	Type
PHD	7	54	1.5e-8	SMART
JmjC	195	351	1.38e-46	SMART
low complexity region	475	489	N/A	INTRINSIC
low complexity region	731	745	N/A	INTRINSIC

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 99.1%
3x: 98.4%
10x: 96.8%
20x: 93.3%

Validation Efficiency

98% (61/62)

Allele List at MGI

Other mutations in this stock

Total: 58 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2510039O18Rik	T	C	4: 147,945,031	I486T	probably damaging	Het
4933427D14Rik	T	C	11: 72,198,741	R106G	probably damaging	Het
Cfap54	A	G	10: 92,839,471	S2863P	possibly damaging	Het
Copa	T	A	1: 172,121,245	S1155T	probably benign	Het
Crot	T	C	5: 8,977,541	T264A	probably benign	Het
Ddx3y	G	A	Y: 1,267,170	A232V	probably damaging	Het
Dst	T	G	1: 34,011,898	V25G	probably benign	Het
Ehbp1	C	T	11: 22,137,867	A406T	probably benign	Het
Eml5	A	T	12: 98,802,465		probably benign	Het
Eps8	A	T	6: 137,509,155	M453K	probably benign	Het
Galnt3	T	C	2: 66,107,030	D112G	possibly damaging	Het
Glra4	C	T	X: 136,762,793	A336T	probably damaging	Het
Gmppb	A	G	9: 108,050,139	D95G	probably benign	Het
Gprc6a	T	C	10: 51,628,448	Y100C	possibly damaging	Het
Gpx6	C	A	13: 21,317,658	S150Y	probably damaging	Het
Hsd17b3	A	T	13: 64,059,486	V247D	probably damaging	Het
Htr7	T	C	19: 36,056,760	D165G	probably damaging	Het
Igha	T	C	12: 113,256,352		probably benign	Het
Igsf10	A	G	3: 59,331,924	C279R	probably damaging	Het
Irak4	A	G	15: 94,554,740	E182G	possibly damaging	Het
Lipo3	A	T	19: 33,558,323	V274E	probably damaging	Het
Lrpprc	A	C	17: 84,770,841		probably null	Het
Mast1	T	C	8: 84,918,764	Y684C	probably damaging	Het
Mdn1	T	C	4: 32,722,363	F2382L	probably benign	Het
Mepe	C	T	5: 104,337,078	P28L	probably benign	Het
Mrgpra3	T	A	7: 47,589,666	I171F	probably benign	Het
Muc2	T	A	7: 141,746,804		probably benign	Het
Myh3	C	T	11: 67,096,436	Q1371*	probably null	Het
Nodal	T	A	10: 61,423,054	V90E	probably benign	Het
Npas4	A	T	19: 4,986,551	H528Q	probably benign	Het
Nt5dc3	T	C	10: 86,824,236	V382A	probably damaging	Het
Pcdh18	G	A	3: 49,754,586	T293I	probably damaging	Het
Phf20l1	A	G	15: 66,641,816	D947G	probably damaging	Het
Pla2r1	A	G	2: 60,448,962	V758A	probably benign	Het
Plod2	G	T	9: 92,598,619	G422*	probably null	Het
Ppp1r12a	T	C	10: 108,253,480	V660A	probably benign	Het
Prdm6	T	C	18: 53,540,206	I186T	possibly damaging	Het
Prkd3	G	A	17: 78,959,141		probably benign	Het
Prrc2a	A	G	17: 35,157,932	L734P	probably damaging	Het
Rnf128	C	A	X: 139,664,522	L282I	probably damaging	Het
Rnf213	A	G	11: 119,469,053	N4424S		Het
Scrn3	T	C	2: 73,335,777	S385P	possibly damaging	Het
Serpina1d	A	T	12: 103,767,848	S66T	probably benign	Het
Setd3	T	C	12: 108,165,158	K3R	possibly damaging	Het
Slc2a7	A	G	4: 150,158,210		probably null	Het
Smad4	G	T	18: 73,677,736	T59K	possibly damaging	Het
Spc25	A	G	2: 69,202,601	L60P	probably damaging	Het
Stam	A	C	2: 14,138,961	H354P	probably damaging	Het
Tesk1	C	T	4: 43,445,786	P280S	possibly damaging	Het
Tmem120a	C	G	5: 135,736,277	R254P	probably benign	Het
Traf5	T	C	1: 191,997,876	T405A	probably benign	Het
Trav7-4	A	G	14: 53,461,662	S89G	probably benign	Het
Tsc22d1	T	C	14: 76,418,609	S761P	probably damaging	Het
Ugt1a10	C	A	1: 88,216,140	H361N	probably damaging	Het
Ugt2b1	C	A	5: 86,917,675	V502L	probably benign	Het
Vip	T	A	10: 5,642,590	S77T	possibly damaging	Het
Wdr72	A	T	9: 74,218,697	M1025L	probably benign	Het
Zfp541	A	G	7: 16,072,222	D94G	probably damaging	Het

Other mutations in 4921501E09Rik

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00470:4921501E09Rik	APN	17	33065863	missense	probably benign	0.10
IGL00790:4921501E09Rik	APN	17	33067387	missense	probably damaging	1.00
IGL01146:4921501E09Rik	APN	17	33065383	missense	possibly damaging	0.68
IGL01755:4921501E09Rik	APN	17	33066977	missense	probably damaging	0.99
IGL01880:4921501E09Rik	APN	17	33066716	missense	probably damaging	0.99
IGL01981:4921501E09Rik	APN	17	33067654	missense	probably damaging	1.00
IGL01982:4921501E09Rik	APN	17	33066315	missense	probably benign	0.00
IGL02047:4921501E09Rik	APN	17	33067301	missense	probably damaging	1.00
IGL02070:4921501E09Rik	APN	17	33066130	missense	probably damaging	0.98
R0055:4921501E09Rik	UTSW	17	33066722	missense	probably damaging	1.00
R0055:4921501E09Rik	UTSW	17	33066722	missense	probably damaging	1.00
R0893:4921501E09Rik	UTSW	17	33065289	missense	probably benign	0.34
R1528:4921501E09Rik	UTSW	17	33067241	missense	probably damaging	1.00
R1558:4921501E09Rik	UTSW	17	33065705	missense	probably benign	0.20
R1664:4921501E09Rik	UTSW	17	33066518	missense	probably damaging	1.00
R1782:4921501E09Rik	UTSW	17	33067688	missense	probably benign	0.06
R1881:4921501E09Rik	UTSW	17	33065284	missense	probably damaging	1.00
R2018:4921501E09Rik	UTSW	17	33066967	missense	probably benign	0.15
R2029:4921501E09Rik	UTSW	17	33067624	nonsense	probably null
R2152:4921501E09Rik	UTSW	17	33066934	missense	probably damaging	1.00
R2298:4921501E09Rik	UTSW	17	33066778	missense	probably damaging	1.00
R2395:4921501E09Rik	UTSW	17	33065962	missense	probably benign	0.28
R2424:4921501E09Rik	UTSW	17	33065756	missense	probably benign	0.00
R3976:4921501E09Rik	UTSW	17	33066431	missense	probably benign	0.24
R4159:4921501E09Rik	UTSW	17	33066049	missense	probably benign	0.01
R4160:4921501E09Rik	UTSW	17	33066049	missense	probably benign	0.01
R4161:4921501E09Rik	UTSW	17	33066049	missense	probably benign	0.01
R4761:4921501E09Rik	UTSW	17	33067198	missense	probably damaging	1.00
R4855:4921501E09Rik	UTSW	17	33066739	missense	probably benign	0.00
R5039:4921501E09Rik	UTSW	17	33067760	missense	probably damaging	1.00
R5255:4921501E09Rik	UTSW	17	33066765	nonsense	probably null
R5383:4921501E09Rik	UTSW	17	33065257	missense	probably benign
R5520:4921501E09Rik	UTSW	17	33065393	missense	probably benign	0.03
R5588:4921501E09Rik	UTSW	17	33066275	nonsense	probably null
R5685:4921501E09Rik	UTSW	17	33066772	missense	probably benign	0.04
R5826:4921501E09Rik	UTSW	17	33065314	missense	possibly damaging	0.87
R5907:4921501E09Rik	UTSW	17	33066150	missense	probably benign	0.01
R6397:4921501E09Rik	UTSW	17	33066245	missense	probably benign	0.28
R6731:4921501E09Rik	UTSW	17	33066226	missense	probably benign	0.02
R6750:4921501E09Rik	UTSW	17	33066398	missense	possibly damaging	0.82
R7043:4921501E09Rik	UTSW	17	33065332	missense	possibly damaging	0.85
R7242:4921501E09Rik	UTSW	17	33067127	missense	probably damaging	1.00
R7262:4921501E09Rik	UTSW	17	33066997	missense	probably damaging	0.99
R7265:4921501E09Rik	UTSW	17	33066997	missense	probably damaging	0.99
R7286:4921501E09Rik	UTSW	17	33065527	missense	probably benign
R7797:4921501E09Rik	UTSW	17	33067690	missense	probably damaging	1.00
R8314:4921501E09Rik	UTSW	17	33067064	missense	probably benign	0.04
R8315:4921501E09Rik	UTSW	17	33067064	missense	probably benign	0.04
R8376:4921501E09Rik	UTSW	17	33067064	missense	probably benign	0.04
R8377:4921501E09Rik	UTSW	17	33067064	missense	probably benign	0.04
R8378:4921501E09Rik	UTSW	17	33067064	missense	probably benign	0.04
R8404:4921501E09Rik	UTSW	17	33067064	missense	probably benign	0.04
R8405:4921501E09Rik	UTSW	17	33067064	missense	probably benign	0.04
R8406:4921501E09Rik	UTSW	17	33067064	missense	probably benign	0.04
R8425:4921501E09Rik	UTSW	17	33067064	missense	probably benign	0.04
R8501:4921501E09Rik	UTSW	17	33067064	missense	probably benign	0.04
R8502:4921501E09Rik	UTSW	17	33067064	missense	probably benign	0.04
R9091:4921501E09Rik	UTSW	17	33067727	missense	probably damaging	1.00
R9220:4921501E09Rik	UTSW	17	33067520	missense	probably benign	0.26
R9270:4921501E09Rik	UTSW	17	33067727	missense	probably damaging	1.00
R9369:4921501E09Rik	UTSW	17	33066605	missense	probably damaging	1.00
R9766:4921501E09Rik	UTSW	17	33066673	missense	probably damaging	0.99
Z1176:4921501E09Rik	UTSW	17	33065657	missense	possibly damaging	0.95

Predicted Primers

PCR Primer
(F):5'- GACAGCCTACCTTCCATTGTTG -3'
(R):5'- ACTTGGCCTTTCAAGCCTG -3'

Sequencing Primer
(F):5'- AGATCCATGAAATTACAGCTATGTTG -3'
(R):5'- GCCTTTCAAGCCTGGACAAG -3'

Posted On

2015-04-30