Mutagenetix > Incidental Mutation

Incidental Mutation 'R2154:1700030K09Rik'

234624

Institutional Source

Beutler Lab

Gene Symbol

1700030K09Rik

Ensembl Gene

ENSMUSG00000052794

Gene Name

RIKEN cDNA 1700030K09 gene

Synonyms

MMRRC Submission

040157-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.049) question?

Stock #

R2154 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

73197724-73214385 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 73208959 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Glycine at position 363 (E363G)

Ref Sequence

ENSEMBL: ENSMUSP00000063244 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000064853] [ENSMUST00000121902]

AlphaFold

no structure available at present

Predicted Effect

probably benign
Transcript: ENSMUST00000064853
AA Change: E363G

PolyPhen 2 Score 0.008 (Sensitivity: 0.96; Specificity: 0.76)

SMART Domains

Protein: ENSMUSP00000063244
Gene: ENSMUSG00000052794
AA Change: E363G

Domain	Start	End	E-Value	Type
low complexity region	200	216	N/A	INTRINSIC
low complexity region	250	262	N/A	INTRINSIC
low complexity region	320	333	N/A	INTRINSIC
low complexity region	374	383	N/A	INTRINSIC
low complexity region	421	432	N/A	INTRINSIC
Pfam:DUF4614	438	608	2e-71	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000121902

SMART Domains

Protein: ENSMUSP00000113279
Gene: ENSMUSG00000052794

Domain	Start	End	E-Value	Type
low complexity region	200	216	N/A	INTRINSIC
low complexity region	250	262	N/A	INTRINSIC
low complexity region	320	333	N/A	INTRINSIC
low complexity region	387	398	N/A	INTRINSIC
Pfam:DUF4614	400	575	1.3e-75	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000139130

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.3%
20x: 95.2%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 75 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca3	A	G	17: 24,596,693 (GRCm39)	Y382C	probably damaging	Het
Abca5	A	G	11: 110,183,000 (GRCm39)	I1019T	probably benign	Het
Acox3	A	T	5: 35,762,568 (GRCm39)	S481C	probably damaging	Het
Ankrd7	T	A	6: 18,870,030 (GRCm39)	M261K	probably benign	Het
Aqr	A	C	2: 113,967,485 (GRCm39)	M510R	probably damaging	Het
Arpc1a	A	T	5: 145,029,369 (GRCm39)	T56S	probably benign	Het
Asap2	A	T	12: 21,162,084 (GRCm39)	T14S	probably damaging	Het
Aspg	A	G	12: 112,087,408 (GRCm39)	E288G	probably benign	Het
Atp2c2	A	G	8: 120,482,841 (GRCm39)	N901S	probably benign	Het
Cabcoco1	A	G	10: 68,267,092 (GRCm39)	L205P	probably damaging	Het
Cant1	A	G	11: 118,302,263 (GRCm39)	L18P	probably damaging	Het
Cdca2	G	A	14: 67,914,425 (GRCm39)	P945S	probably damaging	Het
Cfap74	A	G	4: 155,513,753 (GRCm39)	K522E	possibly damaging	Het
Chek1	C	A	9: 36,635,279 (GRCm39)	V35F	probably damaging	Het
Cpa6	A	T	1: 10,407,547 (GRCm39)	M330K	probably damaging	Het
Creb3l4	G	T	3: 90,145,792 (GRCm39)	N246K	probably damaging	Het
Cyp2c55	T	A	19: 39,022,819 (GRCm39)	V319D	probably damaging	Het
Dapk1	T	A	13: 60,877,317 (GRCm39)	S519T	probably benign	Het
Dhx38	T	C	8: 110,287,306 (GRCm39)	S221G	probably benign	Het
Dis3l	T	A	9: 64,214,545 (GRCm39)	N981I	probably benign	Het
Dock4	T	A	12: 40,870,661 (GRCm39)	V1467E	probably damaging	Het
Dock4	ACCTGCTCTGCC	ACCTGCTCTGCCTGCTCTGCC	12: 40,894,547 (GRCm39)		probably benign	Het
Dok5	G	A	2: 170,642,816 (GRCm39)	G38D	probably damaging	Het
Ercc6l2	T	C	13: 64,013,821 (GRCm39)	S631P	probably damaging	Het
Fat4	A	T	3: 38,941,688 (GRCm39)	S194C	probably damaging	Het
Fcsk	T	A	8: 111,615,704 (GRCm39)	T542S	probably benign	Het
Garem2	T	C	5: 30,313,297 (GRCm39)	S54P	probably damaging	Het
Gdf10	T	C	14: 33,656,346 (GRCm39)	I436T	probably damaging	Het
Gfod1	T	C	13: 43,456,946 (GRCm39)	T10A	possibly damaging	Het
Gucy1a1	A	G	3: 82,018,458 (GRCm39)		probably null	Het
Heatr5b	G	T	17: 79,138,873 (GRCm39)	Q90K	probably benign	Het
Ikzf3	T	A	11: 98,376,475 (GRCm39)	K211*	probably null	Het
Itgam	A	C	7: 127,684,749 (GRCm39)	D373A	probably damaging	Het
Itpripl2	A	G	7: 118,089,107 (GRCm39)	F484S	probably damaging	Het
Kat6b	A	T	14: 21,718,735 (GRCm39)	H1138L	probably benign	Het
Kif16b	T	C	2: 142,532,500 (GRCm39)	K1213R	probably damaging	Het
Klra3	G	C	6: 130,310,107 (GRCm39)	R138G	probably benign	Het
Mmp25	T	A	17: 23,850,048 (GRCm39)	Y504F	probably damaging	Het
Mtf2	A	G	5: 108,228,797 (GRCm39)	K38E	possibly damaging	Het
Myh14	A	C	7: 44,301,853 (GRCm39)		probably null	Het
Nedd4l	T	A	18: 65,343,401 (GRCm39)	H820Q	probably damaging	Het
Nfkb1	T	C	3: 135,307,240 (GRCm39)	T562A	probably benign	Het
Or8b49	G	T	9: 38,505,707 (GRCm39)	L63F	probably damaging	Het
Pds5a	A	T	5: 65,807,841 (GRCm39)	V464E	probably damaging	Het
Peak1	C	T	9: 56,114,496 (GRCm39)	V452M	probably damaging	Het
Phf2	T	C	13: 48,973,549 (GRCm39)	Y372C	unknown	Het
Poc1a	T	A	9: 106,162,773 (GRCm39)		probably null	Het
Prss33	C	T	17: 24,053,817 (GRCm39)	V87M	probably damaging	Het
Psmc2	C	G	5: 22,008,127 (GRCm39)	L344V	possibly damaging	Het
Ptpn12	C	A	5: 21,207,466 (GRCm39)	Q297H	probably damaging	Het
Rabgap1	T	C	2: 37,365,453 (GRCm39)	V242A	probably damaging	Het
Rad1	C	A	15: 10,486,721 (GRCm39)	H39Q	possibly damaging	Het
Rad51ap2	A	G	12: 11,507,986 (GRCm39)	H636R	probably benign	Het
Samd9l	C	T	6: 3,372,945 (GRCm39)	D1439N	possibly damaging	Het
Sbno1	A	T	5: 124,516,574 (GRCm39)	D1266E	probably benign	Het
Sidt2	T	C	9: 45,856,638 (GRCm39)	D477G	probably damaging	Het
Slc22a13	T	C	9: 119,037,753 (GRCm39)	K125R	probably benign	Het
Slc6a1	G	T	6: 114,284,731 (GRCm39)	G263V	probably damaging	Het
Slmap	A	G	14: 26,139,402 (GRCm39)	Y771H	probably damaging	Het
Smg1	A	T	7: 117,757,299 (GRCm39)		probably benign	Het
Spinkl	A	T	18: 44,302,194 (GRCm39)	N32K	probably benign	Het
Stxbp1	T	A	2: 32,692,868 (GRCm39)	I383F	probably damaging	Het
Taf3	C	T	2: 9,956,377 (GRCm39)	E597K	possibly damaging	Het
Tln2	T	C	9: 67,209,842 (GRCm39)	T432A	probably damaging	Het
Tmco6	T	C	18: 36,874,740 (GRCm39)	V409A	probably benign	Het
Tstd2	T	C	4: 46,129,235 (GRCm39)	T198A	probably damaging	Het
Vmn1r230	T	A	17: 21,067,063 (GRCm39)	M84K	probably damaging	Het
Vmn1r45	T	A	6: 89,910,965 (GRCm39)	S2C	possibly damaging	Het
Vmn2r25	T	A	6: 123,816,805 (GRCm39)	T259S	probably benign	Het
Vmn2r70	A	G	7: 85,212,923 (GRCm39)	S495P	possibly damaging	Het
Vmn2r97	A	T	17: 19,167,584 (GRCm39)	R613*	probably null	Het
Yme1l1	T	C	2: 23,052,520 (GRCm39)	L58P	probably damaging	Het
Zan	G	A	5: 137,412,511 (GRCm39)		probably benign	Het
Zfhx4	A	G	3: 5,466,801 (GRCm39)	T2320A	possibly damaging	Het
Zfp407	T	C	18: 84,227,774 (GRCm39)	D1945G	possibly damaging	Het

Other mutations in 1700030K09Rik

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00832:1700030K09Rik	APN	8	73,209,193 (GRCm39)	missense	probably damaging	1.00
IGL01010:1700030K09Rik	APN	8	73,199,059 (GRCm39)	missense	probably damaging	0.98
IGL01449:1700030K09Rik	APN	8	73,198,693 (GRCm39)	missense	probably benign	0.10
IGL01714:1700030K09Rik	APN	8	73,209,413 (GRCm39)	critical splice donor site	probably null
IGL03256:1700030K09Rik	APN	8	73,199,043 (GRCm39)	missense	probably benign	0.01
IGL03275:1700030K09Rik	APN	8	73,198,968 (GRCm39)	missense	probably damaging	1.00
R0417:1700030K09Rik	UTSW	8	73,199,244 (GRCm39)	missense	probably damaging	0.97
R0501:1700030K09Rik	UTSW	8	73,209,216 (GRCm39)	missense	probably benign	0.01
R1444:1700030K09Rik	UTSW	8	73,205,230 (GRCm39)	missense	probably damaging	1.00
R1556:1700030K09Rik	UTSW	8	73,203,477 (GRCm39)	missense	probably damaging	1.00
R2153:1700030K09Rik	UTSW	8	73,208,959 (GRCm39)	missense	probably benign	0.01
R2298:1700030K09Rik	UTSW	8	73,209,247 (GRCm39)	missense	probably benign	0.08
R3743:1700030K09Rik	UTSW	8	73,199,013 (GRCm39)	missense	probably benign	0.41
R4787:1700030K09Rik	UTSW	8	73,199,008 (GRCm39)	nonsense	probably null
R4860:1700030K09Rik	UTSW	8	73,209,267 (GRCm39)	missense	possibly damaging	0.87
R4860:1700030K09Rik	UTSW	8	73,209,267 (GRCm39)	missense	possibly damaging	0.87
R4994:1700030K09Rik	UTSW	8	73,208,962 (GRCm39)	missense	probably benign	0.02
R5857:1700030K09Rik	UTSW	8	73,203,369 (GRCm39)	missense	probably benign	0.04
R6256:1700030K09Rik	UTSW	8	73,205,272 (GRCm39)	missense	probably damaging	1.00
R7129:1700030K09Rik	UTSW	8	73,209,199 (GRCm39)	missense	probably damaging	1.00
R7366:1700030K09Rik	UTSW	8	73,203,303 (GRCm39)	missense	possibly damaging	0.65
R7923:1700030K09Rik	UTSW	8	73,198,755 (GRCm39)	missense	probably damaging	1.00
R8322:1700030K09Rik	UTSW	8	73,199,219 (GRCm39)	missense	probably benign	0.32
R9109:1700030K09Rik	UTSW	8	73,198,923 (GRCm39)	missense	probably benign	0.01
R9298:1700030K09Rik	UTSW	8	73,198,923 (GRCm39)	missense	probably benign	0.01
R9409:1700030K09Rik	UTSW	8	73,211,888 (GRCm39)	missense	possibly damaging	0.86

Predicted Primers

PCR Primer
(F):5'- GCTTTGCCTGAATGTATGTCTTTGTA -3'
(R):5'- CTGCTGAGGAGCTGGTCC -3'

Sequencing Primer
(F):5'- ACAAGTCTGGTACACCTTGG -3'
(R):5'- CCCGGGGGCTCTGAGAC -3'

Posted On

2014-10-01