Mutagenetix > Incidental Mutation

Incidental Mutation 'R1680:1700017N19Rik'

188433

Institutional Source

Beutler Lab

Gene Symbol

1700017N19Rik

Ensembl Gene

ENSMUSG00000056912

Gene Name

RIKEN cDNA 1700017N19 gene

Synonyms

MMRRC Submission

039716-MU

Accession Numbers

Essential gene?

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

Stock #

R1680 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

100590484-100618401 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

C to G at 100603528 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Proline to Arginine at position 187 (P187R)

Ref Sequence

ENSEMBL: ENSMUSP00000139797 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000041162] [ENSMUST00000186825] [ENSMUST00000187119] [ENSMUST00000188736] [ENSMUST00000188930] [ENSMUST00000190386] [ENSMUST00000190708] [ENSMUST00000191336] [ENSMUST00000218464]

AlphaFold

A0A087WPJ1

Predicted Effect

probably damaging
Transcript: ENSMUST00000041162
AA Change: P133R

PolyPhen 2 Score 0.980 (Sensitivity: 0.75; Specificity: 0.96)

Predicted Effect

probably benign
Transcript: ENSMUST00000186825

Predicted Effect

probably damaging
Transcript: ENSMUST00000187119
AA Change: P133R

PolyPhen 2 Score 0.965 (Sensitivity: 0.78; Specificity: 0.95)

Predicted Effect

probably damaging
Transcript: ENSMUST00000188736
AA Change: P133R

PolyPhen 2 Score 0.980 (Sensitivity: 0.75; Specificity: 0.96)

Predicted Effect

probably benign
Transcript: ENSMUST00000188930

Predicted Effect

probably damaging
Transcript: ENSMUST00000190386
AA Change: P133R

PolyPhen 2 Score 0.965 (Sensitivity: 0.78; Specificity: 0.95)

Predicted Effect

probably damaging
Transcript: ENSMUST00000190708
AA Change: P187R

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000191336
AA Change: P65R

PolyPhen 2 Score 0.964 (Sensitivity: 0.78; Specificity: 0.95)

Predicted Effect

probably damaging
Transcript: ENSMUST00000218464
AA Change: P133R

PolyPhen 2 Score 0.980 (Sensitivity: 0.75; Specificity: 0.96)

Coding Region Coverage

1x: 99.1%
3x: 98.4%
10x: 96.6%
20x: 93.4%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 68 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Ahnak	T	A	19: 9,009,963	H2870Q	probably benign	Het
Arhgef33	C	T	17: 80,347,651	S95F	probably damaging	Het
Atp1a2	T	A	1: 172,278,954	D827V	probably damaging	Het
Bcat1	T	G	6: 145,039,628	D96A	probably damaging	Het
Birc6	A	T	17: 74,548,746	I184L	probably benign	Het
Ccdc129	C	T	6: 55,968,766	T824I	probably damaging	Het
Clca3b	A	T	3: 144,837,824	L415M	probably damaging	Het
Clstn1	T	C	4: 149,643,726	V617A	probably benign	Het
Col22a1	G	A	15: 71,799,361	A1050V	unknown	Het
Col5a3	C	T	9: 20,784,668		probably null	Het
Csmd3	G	A	15: 47,741,170	T1059I	probably damaging	Het
Dclk2	C	T	3: 86,805,639	R503Q	possibly damaging	Het
Dnm3	A	G	1: 162,010,976	V272A	probably benign	Het
Dnmt3a	A	G	12: 3,873,361	Q187R	probably damaging	Het
Dpp9	A	G	17: 56,190,103	Y710H	probably benign	Het
Eef1a2	A	T	2: 181,152,941	M155K	possibly damaging	Het
Entpd8	G	A	2: 25,084,024	C331Y	probably damaging	Het
Erc1	A	C	6: 119,575,761	L1072R	probably damaging	Het
Fam160b2	T	C	14: 70,586,851	Y482C	probably damaging	Het
Gtf3c2	A	G	5: 31,173,868	S155P	probably damaging	Het
Gucy2c	A	G	6: 136,722,493	S617P	probably damaging	Het
Ice1	T	C	13: 70,605,448	R840G	probably benign	Het
Il1rl2	T	C	1: 40,351,793	Y299H	possibly damaging	Het
Ints7	T	G	1: 191,621,162		probably null	Het
Ireb2	C	T	9: 54,881,518	T92I	probably damaging	Het
Kcnj8	A	T	6: 142,570,189	L64*	probably null	Het
Mapk8ip3	A	G	17: 24,901,011	V983A	probably damaging	Het
Mertk	A	G	2: 128,801,636	D985G	probably benign	Het
Mical3	A	T	6: 120,959,643	S1307R	probably benign	Het
Ncaph2	A	G	15: 89,364,622	D222G	probably benign	Het
Nf1	C	A	11: 79,550,998	S295*	probably null	Het
Nlrp12	T	A	7: 3,241,174	D236V	probably damaging	Het
Npnt	A	G	3: 132,906,802	V74A	probably benign	Het
Oasl1	A	G	5: 114,935,944	D304G	probably damaging	Het
Olfr1098	C	T	2: 86,923,161	V124I	probably benign	Het
Olfr556	A	G	7: 102,670,733	D271G	possibly damaging	Het
Olfr834	A	G	9: 18,988,516	H176R	possibly damaging	Het
Olfr936	T	C	9: 39,047,000	I140V	probably benign	Het
Patz1	A	G	11: 3,307,812	K604E	probably damaging	Het
Pcsk6	T	A	7: 66,035,250	V793E	probably benign	Het
Pla2g4d	C	T	2: 120,277,750		probably null	Het
Plxnc1	A	C	10: 94,841,551	L938R	probably benign	Het
Pou4f2	G	T	8: 78,434,831	A381D	probably damaging	Het
Prdm4	A	G	10: 85,899,223	L685P	possibly damaging	Het
Pxn	T	A	5: 115,552,147	V383E	probably damaging	Het
Rbl1	A	G	2: 157,174,783	L632P	probably damaging	Het
Rnf135	T	A	11: 80,196,881	S219T	possibly damaging	Het
Sdk2	T	C	11: 113,791,436	D2039G	possibly damaging	Het
Sdk2	C	T	11: 113,838,646		silent	Het
Slc5a6	A	G	5: 31,042,644	Y131H	probably damaging	Het
Slc9a1	T	C	4: 133,418,080	I492T	probably damaging	Het
Soga3	A	T	10: 29,196,839	Q709L	probably damaging	Het
Spag5	A	G	11: 78,320,616	K993E	probably damaging	Het
Sptbn1	T	G	11: 30,159,371	I75L	possibly damaging	Het
Syngap1	T	C	17: 26,952,579	S46P	possibly damaging	Het
Tfcp2l1	T	A	1: 118,675,605	F458I	probably damaging	Het
Tmem67	A	G	4: 12,087,840	V102A	probably benign	Het
Tomm70a	T	C	16: 57,121,961	S34P	unknown	Het
Txlnb	G	T	10: 17,843,233	G604V	probably benign	Het
Ube2q1	A	G	3: 89,776,176	T143A	probably benign	Het
Unc80	C	T	1: 66,503,669	R361*	probably null	Het
Vcan	T	C	13: 89,703,547	D1098G	probably benign	Het
Vmn1r176	T	A	7: 23,835,381	T116S	probably damaging	Het
Wdr81	C	T	11: 75,454,423	R6K	probably benign	Het
Zan	T	A	5: 137,403,050	T4136S	unknown	Het
Zbtb14	C	A	17: 69,388,502	F398L	probably damaging	Het
Zfp606	A	T	7: 12,493,971	H615L	probably damaging	Het
Zp3r	A	T	1: 130,582,880	N433K	probably benign	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
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
R4905:1700017N19Rik	UTSW	10	100612818	splice site	probably null
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'- AGGCATAAGCCCACTCTCTTCTACC -3'
(R):5'- AGTGCCTTTCTCACTCACAAACTGG -3'

Sequencing Primer
(F):5'- GCATCTTGAAATAAGAGTTTGCACAC -3'
(R):5'- ATTTATCATTTCATCCTGCTCTAGTG -3'

Posted On

2014-05-09