Mutagenetix > Incidental Mutation

Incidental Mutation 'R3881:4933402N03Rik'

308765

Institutional Source

Beutler Lab

Gene Symbol

4933402N03Rik

Ensembl Gene

ENSMUSG00000013668

Gene Name

RIKEN cDNA 4933402N03 gene

Synonyms

MMRRC Submission

040795-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R3881 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

131137713-131146314 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 131139094 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Glycine at position 131 (E131G)

Ref Sequence

ENSEMBL: ENSMUSP00000070291 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000070980] [ENSMUST00000124096]

AlphaFold

Q8CDT9

Predicted Effect

probably benign
Transcript: ENSMUST00000070980
AA Change: E131G

PolyPhen 2 Score 0.189 (Sensitivity: 0.92; Specificity: 0.87)

Predicted Effect

probably benign
Transcript: ENSMUST00000124096

SMART Domains

Protein: ENSMUSP00000130971
Gene: ENSMUSG00000030849

Domain	Start	End	E-Value	Type
Pfam:Pkinase	1	118	4.8e-19	PFAM
Pfam:Pkinase_Tyr	1	118	1.7e-50	PFAM
low complexity region	146	160	N/A	INTRINSIC

Coding Region Coverage

1x: 99.2%
3x: 98.7%
10x: 97.5%
20x: 95.7%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 55 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2010003K11Rik	T	G	19: 4,498,389	K44T	possibly damaging	Het
9530053A07Rik	T	A	7: 28,140,038	C425*	probably null	Het
Angptl4	G	A	17: 33,777,034	P323S	possibly damaging	Het
Cep41	A	G	6: 30,658,398	S201P	probably damaging	Het
Cep95	A	G	11: 106,806,292	I257V	probably damaging	Het
Clca4a	T	C	3: 144,957,318	N590S	probably benign	Het
Cyfip2	A	G	11: 46,208,335	L716P	probably damaging	Het
Cyp2d34	T	A	15: 82,618,617	Q136L	probably benign	Het
Def6	T	C	17: 28,220,215	C267R	probably damaging	Het
Dgat2	G	A	7: 99,169,743	Q69*	probably null	Het
Dlgap1	T	A	17: 70,786,815	S710R	probably damaging	Het
Dnah10	T	C	5: 124,773,031	I1539T	probably benign	Het
Dnah2	T	A	11: 69,451,347	I2932F	possibly damaging	Het
Enpp2	A	G	15: 54,919,692	S76P	probably damaging	Het
Esr2	T	C	12: 76,167,620	D19G	probably damaging	Het
Fam13b	A	T	18: 34,462,059		probably null	Het
Fbxw14	A	T	9: 109,271,194	V464D	possibly damaging	Het
Gm21961	A	G	15: 65,014,867		probably null	Het
Gpd2	C	T	2: 57,338,975	R264*	probably null	Het
Hps5	A	G	7: 46,771,996	V648A	possibly damaging	Het
Ints4	A	G	7: 97,516,257	T517A	possibly damaging	Het
Itpr3	A	G	17: 27,113,840	N1860S	probably benign	Het
Itsn2	G	A	12: 4,634,546		probably benign	Het
Jup	A	G	11: 100,378,381	V402A	probably benign	Het
Letm2	C	A	8: 25,593,868	E116*	probably null	Het
Ly6c1	T	C	15: 75,045,587	T71A	probably benign	Het
Mcm3ap	G	A	10: 76,506,446	S1591N	probably benign	Het
Mier2	C	T	10: 79,548,750		probably null	Het
Mocs2	T	A	13: 114,819,346	L10*	probably null	Het
Myo6	A	G	9: 80,264,256	D513G	probably damaging	Het
Myoz2	T	C	3: 123,013,720	Y147C	probably damaging	Het
Nin	C	T	12: 70,042,541	V1367M	probably benign	Het
Nr2f6	C	T	8: 71,376,031	A200T	probably damaging	Het
Obscn	C	T	11: 59,056,949	C4418Y	probably damaging	Het
Olfr1331	A	G	4: 118,869,353	M191V	probably benign	Het
Olfr1495	T	C	19: 13,768,780	V146A	probably benign	Het
Olfr154	T	A	2: 85,664,425	H3L	probably benign	Het
Paxip1	C	T	5: 27,748,839	R953Q	probably damaging	Het
Pcdha1	A	T	18: 36,931,401	I373F	possibly damaging	Het
Pcdha7	G	A	18: 36,975,379	E486K	probably benign	Het
Recql5	G	A	11: 115,893,954	P849L	probably benign	Het
Recql5	G	T	11: 115,893,955	P849T	probably benign	Het
Rnf180	A	T	13: 105,250,407	M131K	possibly damaging	Het
Rplp1	A	G	9: 61,914,422	S3P	probably benign	Het
Rpp38	T	A	2: 3,329,246	R206S	probably benign	Het
Sdha	G	T	13: 74,339,192	P159Q	probably damaging	Het
Shank2	T	C	7: 144,405,384	V199A	probably benign	Het
Tex11	C	A	X: 100,933,415	A487S	possibly damaging	Het
Timm50	C	A	7: 28,311,007	A41S	probably benign	Het
Tmbim1	A	G	1: 74,289,998		probably benign	Het
Tmprss11a	C	T	5: 86,445,805	V29M	possibly damaging	Het
Ttc28	A	T	5: 111,183,240	H411L	probably damaging	Het
Ube4b	A	T	4: 149,365,404		probably null	Het
Zdhhc22	T	A	12: 86,983,626	M183L	probably benign	Het
Zfp106	A	G	2: 120,532,149	S830P	probably benign	Het

Other mutations in 4933402N03Rik

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01289:4933402N03Rik	APN	7	131138621	missense	probably benign	0.14
IGL01374:4933402N03Rik	APN	7	131146101	missense	probably benign	0.34
IGL01394:4933402N03Rik	APN	7	131146231	nonsense	probably null
IGL01640:4933402N03Rik	APN	7	131139119	missense	possibly damaging	0.90
IGL01713:4933402N03Rik	APN	7	131139043	missense	possibly damaging	0.92
H8786:4933402N03Rik	UTSW	7	131139177	missense	probably damaging	0.96
R0321:4933402N03Rik	UTSW	7	131146227	missense	probably benign	0.00
R0496:4933402N03Rik	UTSW	7	131146131	missense	probably benign
R0541:4933402N03Rik	UTSW	7	131139143	missense	probably benign	0.01
R1527:4933402N03Rik	UTSW	7	131138860	missense	probably benign	0.10
R1750:4933402N03Rik	UTSW	7	131146130	missense	probably benign	0.09
R2047:4933402N03Rik	UTSW	7	131146107	missense	probably damaging	0.96
R2404:4933402N03Rik	UTSW	7	131139194	missense	possibly damaging	0.94
R4507:4933402N03Rik	UTSW	7	131145872	missense	probably damaging	1.00
R4684:4933402N03Rik	UTSW	7	131138684	missense	probably damaging	0.96
R5368:4933402N03Rik	UTSW	7	131139196	missense	possibly damaging	0.92
R5814:4933402N03Rik	UTSW	7	131139082	missense	probably benign	0.09
R6238:4933402N03Rik	UTSW	7	131146134	missense	probably benign	0.05
R8964:4933402N03Rik	UTSW	7	131138987	missense	probably benign	0.15
R9655:4933402N03Rik	UTSW	7	131138966	missense	possibly damaging	0.92

Predicted Primers

PCR Primer
(F):5'- GACTGCTTGTTTTCCAGGGCTC -3'
(R):5'- AATTCTCATTGCTGGGGCTG -3'

Sequencing Primer
(F):5'- ACACCTTCGCTGTCCATA -3'
(R):5'- TCATTGCTGGGGCTGCCTAC -3'

Posted On

2015-04-17