Mutagenetix > Incidental Mutations

Incidental Mutation 'R1978:2810474O19Rik'

222002

Institutional Source

Beutler Lab

Gene Symbol

2810474O19Rik

Ensembl Gene

ENSMUSG00000032712

Gene Name

RIKEN cDNA 2810474O19 gene

Synonyms

GET

MMRRC Submission

039991-MU

Accession Numbers

Genbank: NM_026054; MGI: 1914496

Is this an essential gene?

Non essential (E-score: 0.000) question?

Stock #

R1978 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

149309414-149335663 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 149326432 bp

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Lysine at position 325 (N325K)

Ref Sequence

ENSEMBL: ENSMUSP00000115573 (fasta)

Gene Model

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

Predicted Effect

probably benign
Transcript: ENSMUST00000046689
AA Change: N325K

PolyPhen 2 Score 0.119 (Sensitivity: 0.93; Specificity: 0.86)

SMART Domains

Protein: ENSMUSP00000041180
Gene: ENSMUSG00000032712
AA Change: N325K

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

Predicted Effect

probably benign
Transcript: ENSMUST00000100765
AA Change: N325K

PolyPhen 2 Score 0.119 (Sensitivity: 0.93; Specificity: 0.86)

SMART Domains

Protein: ENSMUSP00000098328
Gene: ENSMUSG00000032712
AA Change: N325K

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

Predicted Effect

probably benign
Transcript: ENSMUST00000127680

Predicted Effect

probably damaging
Transcript: ENSMUST00000130664
AA Change: N325K

PolyPhen 2 Score 0.971 (Sensitivity: 0.77; Specificity: 0.96)

Predicted Effect

probably benign
Transcript: ENSMUST00000185930

Predicted Effect

probably benign
Transcript: ENSMUST00000187881

Predicted Effect

probably benign
Transcript: ENSMUST00000189837
AA Change: N325K

PolyPhen 2 Score 0.119 (Sensitivity: 0.93; Specificity: 0.86)

SMART Domains

Protein: ENSMUSP00000139660
Gene: ENSMUSG00000032712
AA Change: N325K

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

Predicted Effect

probably benign
Transcript: ENSMUST00000189932
AA Change: N325K

PolyPhen 2 Score 0.119 (Sensitivity: 0.93; Specificity: 0.86)

SMART Domains

Protein: ENSMUSP00000140026
Gene: ENSMUSG00000032712
AA Change: N325K

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

Predicted Effect

probably benign
Transcript: ENSMUST00000190785
AA Change: N325K

PolyPhen 2 Score 0.246 (Sensitivity: 0.91; Specificity: 0.88)

SMART Domains

Protein: ENSMUSP00000139624
Gene: ENSMUSG00000032712
AA Change: N325K

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

Coding Region Coverage

1x: 99.1%
3x: 98.4%
10x: 96.7%
20x: 93.9%

Validation Efficiency

Allele List at MGI

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

Other mutations in this stock

Total: 74 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
0610040J01Rik	T	A	5: 63,898,537	C205*	probably null	Het
4921539E11Rik	T	A	4: 103,270,764	T55S	possibly damaging	Het
Akap12	A	G	10: 4,313,855	D88G	probably benign	Het
Ankrd53	C	A	6: 83,763,203	F84L	probably damaging	Het
Apol7b	A	C	15: 77,423,339	F319V	probably damaging	Het
Bsn	A	G	9: 108,114,549	S1335P	probably benign	Het
Cep192	T	C	18: 67,803,158		probably null	Het
Cfap57	A	G	4: 118,593,132	S598P	probably benign	Het
Commd8	T	C	5: 72,165,499	H25R	probably damaging	Het
Crisp4	T	C	1: 18,128,665	I143V	probably benign	Het
Cyp4a12b	A	T	4: 115,438,145	T483S	probably benign	Het
Dbx2	C	T	15: 95,632,353	M244I	probably damaging	Het
Dnah6	T	G	6: 73,121,970	H1982P	possibly damaging	Het
Fam220a	C	A	5: 143,563,127	P98Q	probably damaging	Het
Ggnbp1	A	G	17: 27,029,543	K29E	possibly damaging	Het
Gm14569	A	C	X: 36,432,128	M976R	probably benign	Het
Gm9573	T	A	17: 35,622,965		probably benign	Het
Hck	G	T	2: 153,129,856	W112C	probably damaging	Het
Heatr5a	A	T	12: 51,939,658	S591T	possibly damaging	Het
Hhat	A	G	1: 192,717,107	S242P	probably benign	Het
Hnrnpll	A	G	17: 80,044,518	S333P	probably benign	Het
Hoxc6	T	C	15: 103,010,007		probably null	Het
Inpp5j	G	A	11: 3,502,150	P367S	probably damaging	Het
Lamc2	A	G	1: 153,133,597		probably null	Het
Loxhd1	T	A	18: 77,321,642	I194N	possibly damaging	Het
Miga1	CCAGGGCAG	CCAG	3: 152,335,304		probably null	Het
Mkln1	C	T	6: 31,490,530	Q60*	probably null	Het
Mybph	C	A	1: 134,196,996	H185N	probably benign	Het
Myo1g	T	C	11: 6,520,829	D9G	possibly damaging	Het
Myo6	A	T	9: 80,228,925	D110V	probably damaging	Het
Ncoa7	A	G	10: 30,691,299	V412A	probably benign	Het
Neb	T	C	2: 52,287,345	K1328R	probably damaging	Het
Olfm5	T	A	7: 104,164,741	Q22L	unknown	Het
Olfr1106	C	T	2: 87,048,835	V134M	possibly damaging	Het
Olfr1328	A	T	4: 118,934,184	Y221*	probably null	Het
Olfr1355	A	G	10: 78,879,280	Y36C	probably damaging	Het
Olfr1414	C	A	1: 92,511,777	G84C	probably damaging	Het
Olfr1423	T	C	19: 12,036,341	T134A	probably benign	Het
Olfr414	T	A	1: 174,431,091	I221N	probably damaging	Het
P3h1	A	T	4: 119,247,976	Q717L	probably null	Het
Pclo	T	C	5: 14,713,795	I4094T	unknown	Het
Pfdn6	G	A	17: 33,939,077	R73W	probably benign	Het
Phyhipl	A	C	10: 70,559,761	M205R	possibly damaging	Het
Pitpnm1	C	T	19: 4,107,973		probably null	Het
Plcg1	A	G	2: 160,752,578		probably null	Het
Pnldc1	A	G	17: 12,906,505	S81P	possibly damaging	Het
Pno1	T	C	11: 17,204,519	I221V	possibly damaging	Het
Porcn	A	G	X: 8,204,301	V75A	probably damaging	Het
Prkcg	T	A	7: 3,305,346	C69S	probably damaging	Het
Rbbp6	G	T	7: 122,999,488		probably benign	Het
Rif1	GCCACCA	GCCA	2: 52,110,324		probably benign	Het
Scly	A	G	1: 91,320,169	D413G	probably damaging	Het
Scn11a	G	A	9: 119,780,795	R996*	probably null	Het
Slc6a13	A	T	6: 121,332,373	D281V	probably damaging	Het
Slfn5	T	C	11: 82,956,616	V109A	probably benign	Het
Smyd1	A	T	6: 71,312,719		probably null	Het
Snx29	T	A	16: 11,367,724	M57K	probably benign	Het
Stag1	T	G	9: 100,888,086	I603S	probably benign	Het
Svep1	C	A	4: 58,097,292	C1417F	possibly damaging	Het
Tbc1d23	T	C	16: 57,189,351	I392V	probably benign	Het
Tchh	T	C	3: 93,446,799	L1182P	unknown	Het
Tle3	T	A	9: 61,394,633	V108E	probably damaging	Het
Tmem144	T	C	3: 79,825,400		probably null	Het
Tpr	T	G	1: 150,419,907	L894V	possibly damaging	Het
Trappc9	A	T	15: 73,000,025	V472E	probably damaging	Het
Trim38	T	C	13: 23,791,098	V340A	probably damaging	Het
Ttc37	T	C	13: 76,134,815	V752A	probably benign	Het
Ttn	A	T	2: 76,811,243	L5176Q	possibly damaging	Het
Vmn1r12	T	A	6: 57,159,509	I197N	possibly damaging	Het
Vmn1r26	T	C	6: 58,009,126	Y26C	possibly damaging	Het
Vwa3a	A	G	7: 120,758,954	I83V	probably null	Het
Xirp1	C	T	9: 120,018,591	E409K	probably benign	Het
Zc3h14	T	G	12: 98,763,922	I46R	probably damaging	Het
Zfp976	A	G	7: 42,613,841	C191R	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
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
R6702:2810474O19Rik	UTSW	6	149327878	missense	probably damaging	0.98
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

Predicted Primers

PCR Primer
(F):5'- GCAAAAGACTCTCTGCCCTTC -3'
(R):5'- GTTTTACTACAACCAGCTGCC -3'

Sequencing Primer
(F):5'- CCTTACAGCTGTAGATATGAAAACC -3'
(R):5'- TAGAGATTTAATATCCCTCACCAGC -3'

Posted On

2014-08-25