Mutagenetix > Incidental Mutation

Incidental Mutation 'R6702:2810474O19Rik'

528811

Institutional Source

Beutler Lab

Gene Symbol

2810474O19Rik

Ensembl Gene

ENSMUSG00000032712

Gene Name

RIKEN cDNA 2810474O19 gene

Synonyms

GET

MMRRC Submission

Accession Numbers

Genbank: NM_026054; MGI: 1914496

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R6702 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

149309414-149335663 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 149327878 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Lysine at position 807 (N807K)

Ref Sequence

ENSEMBL: ENSMUSP00000139624 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000046689] [ENSMUST00000100765] [ENSMUST00000127680] [ENSMUST00000130664] [ENSMUST00000185930] [ENSMUST00000187881] [ENSMUST00000189837] [ENSMUST00000189932] [ENSMUST00000190785]

AlphaFold

Q5DTW7

Predicted Effect

possibly damaging
Transcript: ENSMUST00000046689
AA Change: N807K

PolyPhen 2 Score 0.912 (Sensitivity: 0.81; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000041180
Gene: ENSMUSG00000032712
AA Change: N807K

Domain	Start	End	E-Value	Type
Pfam:DUF4617	451	1513	N/A	PFAM

Predicted Effect

possibly damaging
Transcript: ENSMUST00000100765
AA Change: N807K

PolyPhen 2 Score 0.912 (Sensitivity: 0.81; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000098328
Gene: ENSMUSG00000032712
AA Change: N807K

Domain	Start	End	E-Value	Type
Pfam:DUF4617	451	1513	N/A	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000127680

Predicted Effect

probably benign
Transcript: ENSMUST00000130664

Predicted Effect

probably benign
Transcript: ENSMUST00000185930

Predicted Effect

probably benign
Transcript: ENSMUST00000187881

Predicted Effect

possibly damaging
Transcript: ENSMUST00000189837
AA Change: N807K

PolyPhen 2 Score 0.912 (Sensitivity: 0.81; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000139660
Gene: ENSMUSG00000032712
AA Change: N807K

Domain	Start	End	E-Value	Type
Pfam:DUF4617	451	1511	N/A	PFAM

Predicted Effect

possibly damaging
Transcript: ENSMUST00000189932
AA Change: N807K

PolyPhen 2 Score 0.912 (Sensitivity: 0.81; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000140026
Gene: ENSMUSG00000032712
AA Change: N807K

Domain	Start	End	E-Value	Type
Pfam:DUF4617	451	1513	N/A	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000190785
AA Change: N807K

PolyPhen 2 Score 0.981 (Sensitivity: 0.75; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000139624
Gene: ENSMUSG00000032712
AA Change: N807K

Domain	Start	End	E-Value	Type
Pfam:DUF4617	451	1173	9.4e-255	PFAM

Meta Mutation Damage Score

0.1050

Coding Region Coverage

1x: 99.9%
3x: 99.7%
10x: 98.4%
20x: 95.5%

Validation Efficiency

97% (59/61)

Allele List at MGI

All alleles(126) : Targeted, knock-out(1) Gene trapped(125)

Other mutations in this stock

Total: 61 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700020N01Rik	T	A	10: 21,621,659	Y66*	probably null	Het
Ak3	A	G	19: 29,026,227	V183A	probably damaging	Het
Ano10	G	T	9: 122,259,564	Q397K	possibly damaging	Het
Atg7	C	A	6: 114,671,097		probably null	Het
Brpf3	A	C	17: 28,810,659	N531T	probably benign	Het
Casp2	T	C	6: 42,268,051	V128A	probably benign	Het
Cdcp2	T	C	4: 107,107,086	C378R	probably benign	Het
Cfap54	T	A	10: 92,868,734	D2828V	unknown	Het
Col6a3	T	C	1: 90,779,439	D1984G	unknown	Het
Csnk2a1	A	G	2: 152,258,688	T93A	probably benign	Het
Ddx54	T	A	5: 120,626,503	D758E	possibly damaging	Het
Dlx2	A	G	2: 71,546,227	S56P	probably damaging	Het
Dna2	T	A	10: 62,973,294	I1055N	possibly damaging	Het
Dnah10	A	G	5: 124,805,805	Y2909C	probably damaging	Het
Dnm3	A	G	1: 162,318,687	F296L	probably benign	Het
Fat1	A	G	8: 44,953,046	T945A	probably benign	Het
Herpud1	T	C	8: 94,392,526		probably null	Het
Iqub	T	A	6: 24,449,745	N707I	probably damaging	Het
Kif26b	C	G	1: 178,917,287	S1649R	possibly damaging	Het
Lamp5	C	G	2: 136,059,563	N102K	possibly damaging	Het
Ltbr	A	G	6: 125,308,068	S290P	probably benign	Het
Map4k1	T	G	7: 29,002,396	S803A	possibly damaging	Het
Mef2c	T	A	13: 83,625,406	C134S	possibly damaging	Het
Myo15	A	G	11: 60,492,992	I1622V	probably benign	Het
Nbea	A	G	3: 56,005,502	Y955H	probably benign	Het
Ndor1	A	G	2: 25,249,890	F142S	possibly damaging	Het
Nynrin	A	G	14: 55,864,478	T535A	possibly damaging	Het
Olfr1176	G	A	2: 88,340,242	V226I	probably benign	Het
Olfr1290	T	A	2: 111,490,109		probably null	Het
Olfr205	C	T	16: 59,328,598	V304I	probably benign	Het
Olfr727	A	G	14: 50,127,231	Y218C	probably damaging	Het
Olfr916	A	T	9: 38,657,777	I205N	possibly damaging	Het
Pcdhb13	T	G	18: 37,444,775	H735Q	probably benign	Het
Pcdhb7	A	T	18: 37,341,906	M32L	probably benign	Het
Peg10	GC	GCTCC	6: 4,756,452		probably benign	Het
Per2	C	T	1: 91,427,949	E696K	probably damaging	Het
Pld4	T	C	12: 112,765,051	S213P	probably damaging	Het
Prkg1	T	A	19: 30,993,084	H209L	probably benign	Het
Psg16	T	C	7: 17,090,396	L35P	probably damaging	Het
Pxn	C	T	5: 115,551,896	L160F	probably benign	Het
Rab3a	A	G	8: 70,756,448	D77G	probably damaging	Het
Rgma	A	T	7: 73,417,320	T108S	probably damaging	Het
Rxrg	A	G	1: 167,613,805	S51G	probably benign	Het
S1pr3	A	T	13: 51,419,439	I219F	probably damaging	Het
Sec23b	A	T	2: 144,559,189		probably null	Het
Sfrp5	G	T	19: 42,201,827	T62K	probably benign	Het
Slco1a6	T	A	6: 142,103,100	Y318F	probably damaging	Het
Slit1	A	C	19: 41,614,870	S931A	possibly damaging	Het
Sorl1	A	T	9: 42,071,201	V361E	probably damaging	Het
St6galnac2	A	G	11: 116,684,387	S209P	probably benign	Het
Supt6	C	A	11: 78,231,800	R199L	possibly damaging	Het
Tas2r107	A	C	6: 131,659,384	M234R	probably benign	Het
Tmem72	C	G	6: 116,698,349	V61L	probably benign	Het
Trpm5	C	A	7: 143,069,318		probably benign	Het
Ttn	T	G	2: 76,720,112	T23282P	probably damaging	Het
Ubap2	GCCCGCTTGCCCCGCT	GCCCGCTTGCCCCGCTTGCCCCGCT	4: 41,227,210		probably benign	Het
Ubr3	A	T	2: 69,956,049	R836W	probably benign	Het
Umodl1	A	G	17: 30,986,299		probably null	Het
Ythdf1	A	G	2: 180,919,133		probably null	Het
Zfp780b	T	C	7: 27,971,641	T81A	possibly damaging	Het
Zfp811	T	C	17: 32,797,842	E407G	probably damaging	Het

Other mutations in 2810474O19Rik

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00767:2810474O19Rik	APN	6	149334750	utr 3 prime	probably benign
IGL01401:2810474O19Rik	APN	6	149326896	missense	probably damaging	0.98
IGL01461:2810474O19Rik	APN	6	149331515	unclassified	probably benign
IGL01610:2810474O19Rik	APN	6	149328951	missense	probably benign	0.01
IGL02873:2810474O19Rik	APN	6	149327040	missense	probably damaging	1.00
IGL03202:2810474O19Rik	APN	6	149326439	missense	probably benign	0.08
grand_junction	UTSW	6	149327878	missense	probably damaging	0.98
grand_marais	UTSW	6	149326460	nonsense	probably null
3-1:2810474O19Rik	UTSW	6	149327729	missense	probably damaging	0.98
B6584:2810474O19Rik	UTSW	6	149329346	missense	probably damaging	0.96
PIT4280001:2810474O19Rik	UTSW	6	149325525	missense	probably benign	0.23
R0053:2810474O19Rik	UTSW	6	149327590	missense	probably benign	0.00
R0053:2810474O19Rik	UTSW	6	149327590	missense	probably benign	0.00
R0243:2810474O19Rik	UTSW	6	149326241	missense	probably damaging	1.00
R0620:2810474O19Rik	UTSW	6	149328375	missense	probably damaging	1.00
R0633:2810474O19Rik	UTSW	6	149325701	missense	probably benign	0.00
R0727:2810474O19Rik	UTSW	6	149325822	missense	possibly damaging	0.94
R0904:2810474O19Rik	UTSW	6	149328269	missense	probably damaging	0.99
R1221:2810474O19Rik	UTSW	6	149326221	missense	probably benign	0.24
R1282:2810474O19Rik	UTSW	6	149329172	nonsense	probably null
R1435:2810474O19Rik	UTSW	6	149326082	missense	probably benign	0.04
R1452:2810474O19Rik	UTSW	6	149326632	missense	probably damaging	1.00
R1587:2810474O19Rik	UTSW	6	149326520	missense	probably damaging	1.00
R1912:2810474O19Rik	UTSW	6	149328844	missense	possibly damaging	0.80
R1926:2810474O19Rik	UTSW	6	149329404	missense	probably benign	0.39
R1978:2810474O19Rik	UTSW	6	149326432	missense	probably benign	0.12
R2035:2810474O19Rik	UTSW	6	149329226	missense	possibly damaging	0.91
R2136:2810474O19Rik	UTSW	6	149328822	missense	probably benign	0.01
R2333:2810474O19Rik	UTSW	6	149327511	missense	probably damaging	1.00
R2360:2810474O19Rik	UTSW	6	149334647	missense	probably benign	0.05
R3027:2810474O19Rik	UTSW	6	149329035	missense	probably benign	0.02
R3121:2810474O19Rik	UTSW	6	149329243	nonsense	probably null
R3707:2810474O19Rik	UTSW	6	149329113	missense	probably damaging	0.98
R4204:2810474O19Rik	UTSW	6	149329544	nonsense	probably null
R4247:2810474O19Rik	UTSW	6	149325543	missense	possibly damaging	0.87
R4249:2810474O19Rik	UTSW	6	149325543	missense	possibly damaging	0.87
R4304:2810474O19Rik	UTSW	6	149326238	nonsense	probably null
R4385:2810474O19Rik	UTSW	6	149326208	missense	possibly damaging	0.93
R4702:2810474O19Rik	UTSW	6	149329403	missense	probably benign	0.05
R4747:2810474O19Rik	UTSW	6	149326894	missense	probably damaging	0.96
R4912:2810474O19Rik	UTSW	6	149329389	missense	probably damaging	1.00
R4913:2810474O19Rik	UTSW	6	149329389	missense	probably damaging	1.00
R4965:2810474O19Rik	UTSW	6	149328398	nonsense	probably null
R4971:2810474O19Rik	UTSW	6	149325599	unclassified	probably benign
R5077:2810474O19Rik	UTSW	6	149326030	missense	probably benign	0.14
R5213:2810474O19Rik	UTSW	6	149326053	missense	possibly damaging	0.77
R5382:2810474O19Rik	UTSW	6	149326460	nonsense	probably null
R5418:2810474O19Rik	UTSW	6	149326136	missense	probably damaging	1.00
R5452:2810474O19Rik	UTSW	6	149329113	nonsense	probably null
R5498:2810474O19Rik	UTSW	6	149328240	missense	probably damaging	0.99
R5673:2810474O19Rik	UTSW	6	149327993	nonsense	probably null
R5690:2810474O19Rik	UTSW	6	149328237	missense	possibly damaging	0.95
R5916:2810474O19Rik	UTSW	6	149326578	missense	probably damaging	0.99
R5917:2810474O19Rik	UTSW	6	149334681	missense	probably damaging	0.98
R6160:2810474O19Rik	UTSW	6	149331507	critical splice donor site	probably null
R6280:2810474O19Rik	UTSW	6	149327057	missense	probably damaging	1.00
R6326:2810474O19Rik	UTSW	6	149328995	missense	probably damaging	0.96
R6396:2810474O19Rik	UTSW	6	149327919	missense	probably damaging	1.00
R6972:2810474O19Rik	UTSW	6	149326109	missense	probably damaging	0.99
R7127:2810474O19Rik	UTSW	6	149327945	missense	possibly damaging	0.95
R7168:2810474O19Rik	UTSW	6	149327843	missense	probably benign
R7316:2810474O19Rik	UTSW	6	149326638	missense	probably damaging	0.99
R7586:2810474O19Rik	UTSW	6	149326793	missense	possibly damaging	0.76
R7719:2810474O19Rik	UTSW	6	149327355	missense	probably benign
R7751:2810474O19Rik	UTSW	6	149325438	start gained	probably benign
R8013:2810474O19Rik	UTSW	6	149328870	missense	probably damaging	0.96
R8358:2810474O19Rik	UTSW	6	149326578	missense	probably damaging	0.99
R8393:2810474O19Rik	UTSW	6	149328500	missense	possibly damaging	0.56
R8968:2810474O19Rik	UTSW	6	149327166	missense	probably damaging	0.96
R8977:2810474O19Rik	UTSW	6	149328408	missense	probably damaging	0.99
R8981:2810474O19Rik	UTSW	6	149326499	missense	probably benign	0.06
R9106:2810474O19Rik	UTSW	6	149328870	missense	possibly damaging	0.77
R9208:2810474O19Rik	UTSW	6	149326529	missense	probably damaging	0.99
R9294:2810474O19Rik	UTSW	6	149326432	missense	probably benign	0.12
R9352:2810474O19Rik	UTSW	6	149334682	missense	probably damaging	1.00
R9361:2810474O19Rik	UTSW	6	149326634	missense	possibly damaging	0.70
R9513:2810474O19Rik	UTSW	6	149328295	nonsense	probably null
R9566:2810474O19Rik	UTSW	6	149325854	missense	possibly damaging	0.91
R9623:2810474O19Rik	UTSW	6	149325467	missense	possibly damaging	0.91
R9689:2810474O19Rik	UTSW	6	149328268	nonsense	probably null
R9752:2810474O19Rik	UTSW	6	149326570	missense	probably benign	0.07
R9794:2810474O19Rik	UTSW	6	149326741	nonsense	probably null

Predicted Primers

PCR Primer
(F):5'- GCATCTAGTGAGTATGTGGAAGC -3'
(R):5'- CAGGGCTGATCATCTTCAGG -3'

Sequencing Primer
(F):5'- TCTAGTGAGTATGTGGAAGCAAACAG -3'
(R):5'- GGCTGATCATCTTCAGGAAATAGTTC -3'

Posted On

2018-07-24