Mutagenetix > Incidental Mutations

Incidental Mutation 'R5039:4921501E09Rik'

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395728

Institutional Source

Beutler Lab

Gene Symbol

4921501E09Rik

Ensembl Gene

ENSMUSG00000023350

Gene Name

RIKEN cDNA 4921501E09 gene

Synonyms

MMRRC Submission

042629-MU

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.142) question?

Stock #

R5039 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

33064143-33068058 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to C at 33067760 bp

Zygosity

Heterozygous

Amino Acid Change

Cysteine to Glycine at position 23 (C23G)

Ref Sequence

ENSEMBL: ENSMUSP00000024121 (fasta)

Gene Model

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000024121
AA Change: C23G

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000024121
Gene: ENSMUSG00000023350
AA Change: C23G

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

0.9748

Coding Region Coverage

1x: 99.2%
3x: 98.5%
10x: 97.0%
20x: 94.5%

Validation Efficiency

100% (61/61)

Allele List at MGI

Other mutations in this stock

Total: 52 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcg4	G	A	9: 44,281,566	A161V	probably damaging	Het
Anapc2	T	C	2: 25,274,796	I64T	possibly damaging	Het
Arfgef1	T	C	1: 10,199,736	D396G	probably benign	Het
Axl	C	T	7: 25,785,915	V163M	probably damaging	Het
Blm	G	A	7: 80,505,873	P353S	possibly damaging	Het
Btaf1	T	C	19: 36,990,762	Y1116H	probably benign	Het
Ccdc18	T	A	5: 108,158,648		probably null	Het
Ccdc87	T	C	19: 4,840,401		probably null	Het
Cdhr1	T	C	14: 37,079,643	N781S	probably benign	Het
Ctr9	C	A	7: 111,042,857	H297Q	probably benign	Het
Cyp2c55	A	G	19: 39,038,143	D398G	probably benign	Het
Dnase1l1	C	T	X: 74,277,038		probably null	Het
Dnmt3l	T	C	10: 78,052,900		probably null	Het
Dock4	C	A	12: 40,817,746	N1440K	probably damaging	Het
Etnk1	T	A	6: 143,195,317		probably null	Het
Fam120a	A	T	13: 48,910,250		probably null	Het
Fanca	T	C	8: 123,284,046	D908G	probably benign	Het
Gm17535	T	A	9: 3,035,786	L218H	probably benign	Het
Gm3633	A	C	14: 42,639,204	N42K	possibly damaging	Het
Gm4781	C	A	10: 100,396,989		noncoding transcript	Het
Gm8741	G	T	17: 35,336,086		noncoding transcript	Het
Gpr139	A	G	7: 119,144,942	V140A	probably benign	Het
Ighv1-62-3	G	T	12: 115,461,394	T13K	probably benign	Het
Itgb2l	T	C	16: 96,425,005	T629A	possibly damaging	Het
Kcnb2	T	C	1: 15,709,500	S199P	probably damaging	Het
Kdm1b	G	A	13: 47,077,486	G663D	probably damaging	Het
Lama1	A	G	17: 67,745,893	D407G	possibly damaging	Het
Macf1	T	C	4: 123,511,220	K391R	probably damaging	Het
Magi3	A	T	3: 104,105,791	S127T	probably damaging	Het
Map2	A	T	1: 66,438,796	D1759V	probably damaging	Het
Mllt6	G	A	11: 97,669,500	S210N	possibly damaging	Het
Myrfl	T	C	10: 116,822,711	D447G	probably damaging	Het
Ndufb7	A	G	8: 83,571,465		probably benign	Het
Nt5e	T	A	9: 88,363,581	N301K	probably benign	Het
Olfr944	T	A	9: 39,218,114	Y252*	probably null	Het
Olfr960	A	T	9: 39,623,560	T146S	possibly damaging	Het
Pcdh10	A	G	3: 45,381,861	N870S	probably damaging	Het
Pcdh18	A	G	3: 49,754,856	V670A	probably benign	Het
Polr1c	G	T	17: 46,247,709		probably benign	Het
Ric3	G	C	7: 109,038,723	S274R	probably benign	Het
Rimbp3	A	G	16: 17,213,331	T1540A	probably damaging	Het
Rnf165	A	G	18: 77,462,912	S107P	probably damaging	Het
Rp1l1	A	T	14: 64,031,356	M1464L	probably benign	Het
Slc41a3	A	G	6: 90,626,417	Y140C	probably damaging	Het
Ssb	A	T	2: 69,866,237	E38D	possibly damaging	Het
Syt14	A	T	1: 193,026,984	I16N	probably damaging	Het
Tet3	T	C	6: 83,375,896	T973A	probably damaging	Het
Tial1	T	C	7: 128,443,968		probably benign	Het
Tnfrsf1a	A	G	6: 125,360,712	T89A	possibly damaging	Het
Trpv5	T	C	6: 41,675,945	Y98C	possibly damaging	Het
Ylpm1	T	A	12: 85,015,493	S265T	probably damaging	Het
Ylpm1	A	G	12: 85,042,239	D1006G	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
R3973:4921501E09Rik	UTSW	17	33066431	missense	probably benign	0.24
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
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
Z1176:4921501E09Rik	UTSW	17	33065657	missense	possibly damaging	0.95

Predicted Primers

PCR Primer
(F):5'- AATAGAGGTAGGGCTCCCAGTC -3'
(R):5'- GGTCAAAGTAAGTGGCCTGTG -3'

Sequencing Primer
(F):5'- TAGGGCTCCCAGTCATCAATG -3'
(R):5'- GCCTGTGAAGGGCTCAAAG -3'

Posted On

2016-06-21