Mutagenetix > Incidental Mutation

Incidental Mutation 'R4905:1700017N19Rik'

378114

Institutional Source

Beutler Lab

Gene Symbol

1700017N19Rik

Ensembl Gene

ENSMUSG00000056912

Gene Name

RIKEN cDNA 1700017N19 gene

Synonyms

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.067) question?

Stock #

R4905 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

100590484-100618401 bp(+) (GRCm38)

Type of Mutation

splice site (301 bp from exon)

DNA Base Change (assembly)

A to T at 100612818 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000140717 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000041162] [ENSMUST00000186825] [ENSMUST00000187119] [ENSMUST00000188736] [ENSMUST00000190386] [ENSMUST00000190708] [ENSMUST00000191033] [ENSMUST00000191336] [ENSMUST00000218464]

AlphaFold

A0A087WPJ1

Predicted Effect

probably damaging
Transcript: ENSMUST00000041162
AA Change: N332Y

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

Predicted Effect

probably benign
Transcript: ENSMUST00000186825

Predicted Effect

probably damaging
Transcript: ENSMUST00000187119
AA Change: N291Y

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

Predicted Effect

probably damaging
Transcript: ENSMUST00000188736
AA Change: N331Y

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

Predicted Effect

probably damaging
Transcript: ENSMUST00000190386
AA Change: N292Y

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

Predicted Effect

probably damaging
Transcript: ENSMUST00000190708
AA Change: N386Y

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

Predicted Effect

probably damaging
Transcript: ENSMUST00000191033
AA Change: N131Y

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

Predicted Effect

probably null
Transcript: ENSMUST00000191336

Predicted Effect

probably damaging
Transcript: ENSMUST00000218464
AA Change: N332Y

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

Coding Region Coverage

1x: 98.9%
3x: 98.0%
10x: 95.0%
20x: 87.5%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 61 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700123L14Rik	T	A	6: 96,165,930	R44S	possibly damaging	Het
2700049A03Rik	G	T	12: 71,164,546	E685*	probably null	Het
2700049A03Rik	A	T	12: 71,164,547	E685V	possibly damaging	Het
9530053A07Rik	A	T	7: 28,156,983	K2065M	possibly damaging	Het
Abcc5	A	G	16: 20,399,928	S235P	probably damaging	Het
Abcc6	T	C	7: 45,995,225	N842S	probably benign	Het
Acbd6	G	A	1: 155,624,923	V210I	probably benign	Het
Ahctf1	A	T	1: 179,748,627	V2130D	probably damaging	Het
Akap5	A	G	12: 76,328,433	E213G	probably damaging	Het
Alyref	T	G	11: 120,596,053		probably null	Het
Anapc5	G	T	5: 122,817,910	N152K	probably benign	Het
Atp8b2	A	T	3: 89,949,008	D416E	probably benign	Het
AW551984	A	T	9: 39,597,158	V354E	probably damaging	Het
Bag6	A	G	17: 35,145,186	E844G	probably damaging	Het
Bmp1	C	T	14: 70,491,362	R590H	probably benign	Het
Ccnh	T	C	13: 85,206,135	S233P	possibly damaging	Het
Cdca7	TGAAGAAGAAGAAGAAGAAGAAGAAGAAGAAGA	TGAAGAAGAAGAAGAAGAAGAAGAAGAAGA	2: 72,481,861		probably benign	Het
Col6a6	A	G	9: 105,767,424	S1222P	probably damaging	Het
Dhfr	G	A	13: 92,365,774	G118S	probably damaging	Het
Dnah9	G	A	11: 65,874,124	R1414*	probably null	Het
Dnaic1	A	G	4: 41,614,269	D315G	probably benign	Het
Eogt	T	C	6: 97,142,831	R139G	probably benign	Het
Fh1	C	T	1: 175,619,073	G79E	probably damaging	Het
Gabrg3	A	G	7: 56,724,556	Y421H	probably damaging	Het
Glipr1	C	A	10: 111,985,640	R219L	probably damaging	Het
Gm1123	T	C	9: 99,009,316	D360G	probably benign	Het
Ift81	C	T	5: 122,591,079		probably null	Het
Itsn2	A	G	12: 4,634,583		probably benign	Het
Kri1	A	T	9: 21,287,702	H55Q	probably benign	Het
Mcidas	C	A	13: 112,994,417	A92E	possibly damaging	Het
Mcidas	C	T	13: 112,997,504	T174M	possibly damaging	Het
Mmp25	C	A	17: 23,644,048	G130*	probably null	Het
Myh11	G	A	16: 14,250,523	T211M	probably benign	Het
Myo10	A	G	15: 25,800,212	D1458G	probably damaging	Het
Ncf4	A	G	15: 78,254,904	T154A	probably damaging	Het
Nfatc4	T	C	14: 55,830,582	I620T	probably benign	Het
Nos3	A	T	5: 24,367,331	Y134F	probably benign	Het
Olfr1459	C	A	19: 13,146,177	A161S	probably benign	Het
Olfr273	T	C	4: 52,855,613	N300S	probably damaging	Het
Olfr575	A	T	7: 102,955,514	I36N	probably damaging	Het
Olfr799	T	A	10: 129,647,923	V265E	possibly damaging	Het
Pax9	G	T	12: 56,696,626	R19S	probably damaging	Het
Pcdha9	T	C	18: 36,998,892	I338T	probably damaging	Het
Plxnb2	G	T	15: 89,157,411	T1730K	probably damaging	Het
Rac1	A	G	5: 143,517,152		probably null	Het
Samsn1	G	T	16: 75,876,465	F174L	possibly damaging	Het
Scaf1	G	A	7: 45,012,705	T86M	probably damaging	Het
Smc1b	A	G	15: 85,066,227	Y1199H	probably damaging	Het
Svep1	A	G	4: 58,069,308	I2826T	probably benign	Het
Tex36	A	G	7: 133,587,453	V130A	probably damaging	Het
Tigd5	A	G	15: 75,911,403	H538R	probably damaging	Het
Tlr3	C	A	8: 45,399,223		probably null	Het
Tubb2b	A	T	13: 34,128,204	I202N	probably damaging	Het
Unc13c	A	G	9: 73,680,392	V1453A	probably benign	Het
Unc5c	A	T	3: 141,801,310	T608S	probably benign	Het
Vrk1	C	A	12: 106,051,828	H119N	probably damaging	Het
Wdr53	T	A	16: 32,256,658	M227K	probably benign	Het
Xpo4	T	C	14: 57,638,289	D129G	possibly damaging	Het
Zcchc4	T	C	5: 52,796,650	I224T	probably damaging	Het
Zdhhc1	T	A	8: 105,483,694	E30D	probably damaging	Het
Zscan29	C	G	2: 121,161,383	R540T	possibly damaging	Het

Other mutations in 1700017N19Rik

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01565:1700017N19Rik	APN	10	100603360	missense	probably damaging	1.00
IGL02159:1700017N19Rik	APN	10	100610665	missense	probably damaging	1.00
IGL02556:1700017N19Rik	APN	10	100610717	critical splice donor site	probably null
IGL02629:1700017N19Rik	APN	10	100609144	splice site	probably benign
IGL02692:1700017N19Rik	APN	10	100603548	missense	probably benign	0.05
IGL02962:1700017N19Rik	APN	10	100610593	splice site	probably null
R0145:1700017N19Rik	UTSW	10	100601921	missense	probably damaging	0.96
R0402:1700017N19Rik	UTSW	10	100609253	missense	probably damaging	0.99
R1514:1700017N19Rik	UTSW	10	100612867	missense	probably damaging	1.00
R1519:1700017N19Rik	UTSW	10	100603528	missense	probably damaging	0.98
R1680:1700017N19Rik	UTSW	10	100603528	missense	probably damaging	0.98
R1686:1700017N19Rik	UTSW	10	100612860	missense	probably damaging	0.97
R3951:1700017N19Rik	UTSW	10	100615296	splice site	probably benign
R3952:1700017N19Rik	UTSW	10	100615296	splice site	probably benign
R4423:1700017N19Rik	UTSW	10	100605633	missense	probably damaging	0.99
R5507:1700017N19Rik	UTSW	10	100609233	missense	probably benign	0.02
R5898:1700017N19Rik	UTSW	10	100612900	missense	possibly damaging	0.56
R5898:1700017N19Rik	UTSW	10	100615208	missense	probably benign	0.20
R5977:1700017N19Rik	UTSW	10	100615244	missense	probably damaging	0.99
R7034:1700017N19Rik	UTSW	10	100609256	critical splice donor site	probably null
R7036:1700017N19Rik	UTSW	10	100609256	critical splice donor site	probably null
R7394:1700017N19Rik	UTSW	10	100609176	missense	probably benign	0.01
R7412:1700017N19Rik	UTSW	10	100612829	nonsense	probably null
R7870:1700017N19Rik	UTSW	10	100605643	missense	probably benign
R7914:1700017N19Rik	UTSW	10	100592676	missense	probably benign
R8466:1700017N19Rik	UTSW	10	100602011	missense	probably benign	0.00
R8558:1700017N19Rik	UTSW	10	100594635	missense	probably benign	0.23
R9004:1700017N19Rik	UTSW	10	100618335	unclassified	probably benign
R9105:1700017N19Rik	UTSW	10	100603545	nonsense	probably null
R9641:1700017N19Rik	UTSW	10	100594636	missense	possibly damaging	0.91
Z1088:1700017N19Rik	UTSW	10	100605639	missense	probably damaging	1.00
Z1176:1700017N19Rik	UTSW	10	100612429	missense	probably damaging	0.98

Predicted Primers

PCR Primer
(F):5'- AGCTTGGATCATCTTCTGTCTTGATAC -3'
(R):5'- GCTGGTCCAGGAAAAGCAAC -3'

Sequencing Primer
(F):5'- GATACCCCATGCTTCACGTTCAG -3'
(R):5'- TCCTGAGTCAAAGTGCAGTC -3'

Posted On

2016-04-15