Mutagenetix > Incidental Mutation

Incidental Mutation 'R9004:1700017N19Rik'

706158

Institutional Source

Beutler Lab

Gene Symbol

1700017N19Rik

Ensembl Gene

ENSMUSG00000056912

Gene Name

RIKEN cDNA 1700017N19 gene

Synonyms

MMRRC Submission

Accession Numbers

Essential gene?

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

Stock #

R9004 (G1)

Quality Score

57.0073

Status

Validated

Chromosome

Chromosomal Location

100590484-100618401 bp(+) (GRCm38)

Type of Mutation

unclassified

DNA Base Change (assembly)

T to A at 100618335 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000151731 (fasta)

Gene Model

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

AlphaFold

A0A087WPJ1

Predicted Effect

probably benign
Transcript: ENSMUST00000041162

Predicted Effect

probably benign
Transcript: ENSMUST00000186825

Predicted Effect

probably benign
Transcript: ENSMUST00000187119

Predicted Effect

probably benign
Transcript: ENSMUST00000188736

Predicted Effect

probably benign
Transcript: ENSMUST00000190386

Predicted Effect

probably benign
Transcript: ENSMUST00000190708

Predicted Effect

probably benign
Transcript: ENSMUST00000191033

Predicted Effect

probably benign
Transcript: ENSMUST00000218464

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.4%
20x: 98.3%

Validation Efficiency

100% (69/69)

Allele List at MGI

Other mutations in this stock

Total: 69 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2310057N15Rik	C	A	16: 88,774,098	C18F	probably damaging	Het
Abca7	T	A	10: 80,005,649	M941K	probably damaging	Het
Abcd2	A	G	15: 91,190,848	I254T	probably benign	Het
Abcg8	C	A	17: 84,697,362	T519K	probably benign	Het
Adcy9	A	G	16: 4,288,514	V1149A	probably damaging	Het
Alg10b	A	G	15: 90,225,691	Y69C	probably damaging	Het
Arhgef10l	T	C	4: 140,552,610	D529G	probably damaging	Het
Ascc3	T	A	10: 50,842,180	C1990S	probably benign	Het
BC034090	T	A	1: 155,226,392	N42I	possibly damaging	Het
Bptf	G	A	11: 107,054,887	P2509S	probably damaging	Het
Carmil1	T	A	13: 24,041,679	D1042V	probably damaging	Het
Ccny	A	G	18: 9,332,883	V216A	possibly damaging	Het
Cdr2	T	C	7: 120,958,499	N268D	probably benign	Het
Cep152	T	C	2: 125,611,100	S351G	probably benign	Het
Chrm1	T	C	19: 8,678,545	C205R	possibly damaging	Het
Dalrd3	C	A	9: 108,572,231	D454E	probably benign	Het
Dmbt1	T	C	7: 131,112,069	L1622P	unknown	Het
Eif2s2	A	G	2: 154,878,484	Y172H	probably benign	Het
Ell	T	A	8: 70,578,954	S101T	probably damaging	Het
Faf1	A	G	4: 109,841,353	T337A	probably benign	Het
Fhad1	A	T	4: 141,922,424		probably benign	Het
Gen1	T	C	12: 11,255,021		probably benign	Het
Gfap	A	G	11: 102,891,442	I414T	probably benign	Het
Ginm1	A	C	10: 7,775,255	V129G	probably damaging	Het
Helq	C	T	5: 100,778,732		probably benign	Het
Hoxb3	A	G	11: 96,346,311	D405G	possibly damaging	Het
Hsp90aa1	A	G	12: 110,692,611	V584A	probably damaging	Het
Iglc2	T	C	16: 19,198,675	K59R	probably benign	Het
Inhba	T	C	13: 16,026,941	S363P	probably benign	Het
Kif1c	A	G	11: 70,725,132	K656E	probably benign	Het
Mroh4	G	T	15: 74,614,322	L492I	possibly damaging	Het
Mthfd1	C	T	12: 76,303,980	T712M	probably benign	Het
Naaladl1	C	A	19: 6,105,935	D46E	probably damaging	Het
Nbea	C	T	3: 56,002,938	V1279I	probably benign	Het
Nceh1	T	A	3: 27,239,577	D161E	possibly damaging	Het
Nck2	A	T	1: 43,554,350	N239I		Het
Nlrx1	C	T	9: 44,256,347	R751H	probably benign	Het
Olfr1116	T	A	2: 87,269,351	F190Y	possibly damaging	Het
Olfr146	C	A	9: 39,019,284	V86L	probably benign	Het
Olfr910	A	G	9: 38,539,234	Y113C	probably benign	Het
Oscar	A	T	7: 3,616,041	C13S	possibly damaging	Het
Pappa2	T	A	1: 158,936,409	I511F	probably damaging	Het
Pappa2	T	C	1: 158,936,948	D331G	possibly damaging	Het
Pde4c	C	T	8: 70,746,866	S265L	possibly damaging	Het
Pex1	A	G	5: 3,612,914	S502G	probably benign	Het
Pigl	A	G	11: 62,512,953	Y237C	probably damaging	Het
Pkd1	A	T	17: 24,580,447	Q2880L	probably benign	Het
Pkhd1l1	A	T	15: 44,543,372	H2335L	probably benign	Het
Ppp1r17	A	G	6: 56,031,528	E151G	probably damaging	Het
Ppp1r27	A	G	11: 120,551,023	Y11H	probably damaging	Het
Prss54	C	A	8: 95,565,509	K147N	possibly damaging	Het
Ptchd3	T	A	11: 121,841,861	F526I	possibly damaging	Het
Ptprt	T	C	2: 161,766,394	N661D	probably benign	Het
Rfpl4b	T	C	10: 38,821,775		probably benign	Het
Sdad1	T	C	5: 92,291,961	T402A	probably benign	Het
Stk32c	T	C	7: 139,122,943	D178G	probably damaging	Het
Tas2r119	T	C	15: 32,177,963	L225P	probably damaging	Het
Tdpoz4	A	T	3: 93,796,711	E105V	probably benign	Het
Tlk1	A	G	2: 70,721,946	I520T	probably damaging	Het
Tmf1	A	G	6: 97,175,777	V445A	probably benign	Het
Tomm6	T	C	17: 47,687,908	D40G	possibly damaging	Het
Traf6	C	A	2: 101,690,098	Q164K	probably benign	Het
Tspoap1	A	G	11: 87,779,458	H150R		Het
Ube2g2	A	T	10: 77,643,600	M126L	probably benign	Het
Unc45b	A	G	11: 82,928,689	D496G	probably damaging	Het
Vmn1r74	A	C	7: 11,846,913	I47L	probably benign	Het
Vmn2r88	A	T	14: 51,413,167	L112F		Het
Wwc2	A	C	8: 47,920,697	L45V	probably damaging	Het
Zfp459	A	C	13: 67,408,595	I123R	probably 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
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
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'- GAGAGAAGCTCCAGCCATCATC -3'
(R):5'- TGAGAGCCCTGCCTGAAATC -3'

Sequencing Primer
(F):5'- GAAGCTCCAGCCATCATCTGATTC -3'
(R):5'- CTGAAATCCAGGAGGGGAAAAAG -3'

Posted On

2022-04-06