Mutagenetix > Incidental Mutation

Incidental Mutation 'R1514:1700017N19Rik'

168630

Institutional Source

Beutler Lab

Gene Symbol

1700017N19Rik

Ensembl Gene

ENSMUSG00000056912

Gene Name

RIKEN cDNA 1700017N19 gene

Synonyms

MMRRC Submission

039561-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.073) question?

Stock #

R1514 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

100426346-100454257 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 100448729 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Glutamine at position 147 (L147Q)

Ref Sequence

ENSEMBL: ENSMUSP00000139857 (fasta)

Gene Model

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

AlphaFold

A0A087WPJ1

Predicted Effect

probably damaging
Transcript: ENSMUST00000041162
AA Change: L348Q

PolyPhen 2 Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)

Predicted Effect

probably benign
Transcript: ENSMUST00000186825

Predicted Effect

probably damaging
Transcript: ENSMUST00000187119
AA Change: L307Q

PolyPhen 2 Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)

Predicted Effect

probably damaging
Transcript: ENSMUST00000188736
AA Change: L347Q

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)

Predicted Effect

probably damaging
Transcript: ENSMUST00000190386
AA Change: L308Q

PolyPhen 2 Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)

Predicted Effect

probably damaging
Transcript: ENSMUST00000190708
AA Change: L402Q

PolyPhen 2 Score 0.990 (Sensitivity: 0.72; Specificity: 0.97)

Predicted Effect

probably damaging
Transcript: ENSMUST00000191033
AA Change: L147Q

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

Predicted Effect

probably damaging
Transcript: ENSMUST00000218464
AA Change: L348Q

PolyPhen 2 Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)

Predicted Effect

probably benign
Transcript: ENSMUST00000191336

Meta Mutation Damage Score

0.6467

Coding Region Coverage

1x: 99.4%
3x: 98.7%
10x: 97.4%
20x: 95.6%

Validation Efficiency

100% (65/65)

Allele List at MGI

Other mutations in this stock

Total: 66 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aadacl4fm5	T	C	4: 144,504,329 (GRCm39)	N274S	probably damaging	Het
Abcb1a	A	G	5: 8,724,791 (GRCm39)	T75A	possibly damaging	Het
Acvr1	A	T	2: 58,337,597 (GRCm39)	L495*	probably null	Het
Add1	T	C	5: 34,767,961 (GRCm39)	I240T	probably benign	Het
Adgra2	C	A	8: 27,611,306 (GRCm39)	S870*	probably null	Het
Amer3	G	A	1: 34,618,408 (GRCm39)		probably benign	Het
Baz2b	A	T	2: 59,792,670 (GRCm39)	V486D	probably benign	Het
Bcorl1	T	A	X: 47,494,821 (GRCm39)	D1697E	probably damaging	Het
Cenpf	T	C	1: 189,411,338 (GRCm39)	D282G	possibly damaging	Het
Cep112	A	G	11: 108,362,880 (GRCm39)	D200G	probably damaging	Het
Clec4a4	C	T	6: 122,967,401 (GRCm39)	P26S	probably benign	Het
Crygf	A	C	1: 65,967,197 (GRCm39)	R102S	possibly damaging	Het
Cyp2b19	A	T	7: 26,466,585 (GRCm39)	E404D	probably benign	Het
Dcdc2a	A	G	13: 25,245,237 (GRCm39)	I105V	probably benign	Het
Dus4l	T	C	12: 31,690,938 (GRCm39)	M238V	probably damaging	Het
Eprs1	G	A	1: 185,114,031 (GRCm39)	M326I	probably damaging	Het
Evpl	T	C	11: 116,114,661 (GRCm39)	T1010A	probably benign	Het
Fam124b	T	C	1: 80,178,148 (GRCm39)	T284A	possibly damaging	Het
Glb1l2	A	G	9: 26,680,420 (GRCm39)		probably benign	Het
Gm16223	T	A	5: 42,225,298 (GRCm39)		probably null	Het
Gm4952	T	A	19: 12,604,278 (GRCm39)	M230K	probably damaging	Het
Gm5828	C	A	1: 16,839,583 (GRCm39)		noncoding transcript	Het
Hsh2d	G	A	8: 72,954,304 (GRCm39)	D229N	probably benign	Het
Ifna16	T	A	4: 88,594,979 (GRCm39)	T39S	possibly damaging	Het
Kcnc3	G	A	7: 44,245,027 (GRCm39)	G439D	probably damaging	Het
Kif1c	T	C	11: 70,596,555 (GRCm39)	S257P	probably damaging	Het
Kng1	A	G	16: 22,898,510 (GRCm39)	K456E	probably damaging	Het
Lpxn	T	C	19: 12,801,414 (GRCm39)	L142P	probably damaging	Het
Lratd1	C	T	12: 14,199,864 (GRCm39)	V288M	probably damaging	Het
Med23	A	G	10: 24,768,565 (GRCm39)		probably benign	Het
Mks1	A	T	11: 87,751,937 (GRCm39)	D369V	probably benign	Het
Myo1d	A	T	11: 80,576,734 (GRCm39)	Y114N	probably damaging	Het
Npas2	A	G	1: 39,350,935 (GRCm39)	D126G	possibly damaging	Het
Oga	A	G	19: 45,765,370 (GRCm39)	S146P	probably damaging	Het
Onecut2	T	C	18: 64,474,651 (GRCm39)	F401L	possibly damaging	Het
Or10n1	T	C	9: 39,524,992 (GRCm39)	I43T	probably damaging	Het
Or10v1	A	G	19: 11,873,978 (GRCm39)	T198A	probably benign	Het
Or4f61	T	C	2: 111,922,381 (GRCm39)	I222V	probably benign	Het
Parp11	T	A	6: 127,451,256 (GRCm39)	F102Y	possibly damaging	Het
Pcnx1	C	T	12: 81,965,572 (GRCm39)	H580Y	probably damaging	Het
Pde3b	A	G	7: 114,130,001 (GRCm39)	H852R	probably damaging	Het
Pira1	G	A	7: 3,742,639 (GRCm39)	T23I	possibly damaging	Het
Pou2af1	A	G	9: 51,144,508 (GRCm39)	T141A	probably benign	Het
Rgs22	A	C	15: 36,013,246 (GRCm39)	V1190G	probably benign	Het
Rnf112	T	C	11: 61,341,236 (GRCm39)	S450G	probably benign	Het
Rpgrip1l	A	T	8: 91,987,378 (GRCm39)	I893N	probably damaging	Het
Rps3a1	A	G	3: 86,045,834 (GRCm39)	V210A	probably benign	Het
Runx2	C	T	17: 45,046,224 (GRCm39)	A114T	possibly damaging	Het
Sardh	A	G	2: 27,087,702 (GRCm39)	V723A	possibly damaging	Het
Sdk2	C	T	11: 113,729,472 (GRCm39)		silent	Het
Secisbp2	A	G	13: 51,836,131 (GRCm39)	S742G	possibly damaging	Het
Selenow	G	T	7: 15,654,223 (GRCm39)		probably benign	Het
Slc30a4	A	G	2: 122,531,334 (GRCm39)	V226A	probably damaging	Het
Sntb2	A	G	8: 107,718,164 (GRCm39)	N291D	probably damaging	Het
Sorbs2	A	G	8: 46,222,866 (GRCm39)	T190A	probably damaging	Het
Spata31e5	T	A	1: 28,817,829 (GRCm39)	T68S	possibly damaging	Het
Specc1	T	A	11: 62,047,358 (GRCm39)	L909H	probably damaging	Het
Sprr1b	T	C	3: 92,344,414 (GRCm39)	*154W	probably null	Het
Taar4	T	A	10: 23,836,510 (GRCm39)	M40K	possibly damaging	Het
Ubr2	A	T	17: 47,311,749 (GRCm39)	L34H	probably damaging	Het
Ubxn6	T	C	17: 56,376,003 (GRCm39)	K386R	probably benign	Het
Vmn2r112	A	T	17: 22,821,825 (GRCm39)	T168S	probably benign	Het
Xirp2	A	T	2: 67,344,667 (GRCm39)	R2303*	probably null	Het
Zbtb14	C	A	17: 69,695,497 (GRCm39)	F398L	probably damaging	Het
Zfp13	G	T	17: 23,795,386 (GRCm39)	T395K	probably damaging	Het
Zfp281	A	G	1: 136,554,435 (GRCm39)	N471S	probably benign	Het

Other mutations in 1700017N19Rik

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01565:1700017N19Rik	APN	10	100,439,222 (GRCm39)	missense	probably damaging	1.00
IGL02159:1700017N19Rik	APN	10	100,446,527 (GRCm39)	missense	probably damaging	1.00
IGL02556:1700017N19Rik	APN	10	100,446,579 (GRCm39)	critical splice donor site	probably null
IGL02629:1700017N19Rik	APN	10	100,445,006 (GRCm39)	splice site	probably benign
IGL02692:1700017N19Rik	APN	10	100,439,410 (GRCm39)	missense	probably benign	0.05
IGL02962:1700017N19Rik	APN	10	100,446,455 (GRCm39)	splice site	probably null
R0145:1700017N19Rik	UTSW	10	100,437,783 (GRCm39)	missense	probably damaging	0.96
R0402:1700017N19Rik	UTSW	10	100,445,115 (GRCm39)	missense	probably damaging	0.99
R1519:1700017N19Rik	UTSW	10	100,439,390 (GRCm39)	missense	probably damaging	0.98
R1680:1700017N19Rik	UTSW	10	100,439,390 (GRCm39)	missense	probably damaging	0.98
R1686:1700017N19Rik	UTSW	10	100,448,722 (GRCm39)	missense	probably damaging	0.97
R3951:1700017N19Rik	UTSW	10	100,451,158 (GRCm39)	splice site	probably benign
R3952:1700017N19Rik	UTSW	10	100,451,158 (GRCm39)	splice site	probably benign
R4423:1700017N19Rik	UTSW	10	100,441,495 (GRCm39)	missense	probably damaging	0.99
R4905:1700017N19Rik	UTSW	10	100,448,680 (GRCm39)	splice site	probably null
R5507:1700017N19Rik	UTSW	10	100,445,095 (GRCm39)	missense	probably benign	0.02
R5898:1700017N19Rik	UTSW	10	100,451,070 (GRCm39)	missense	probably benign	0.20
R5898:1700017N19Rik	UTSW	10	100,448,762 (GRCm39)	missense	possibly damaging	0.56
R5977:1700017N19Rik	UTSW	10	100,451,106 (GRCm39)	missense	probably damaging	0.99
R7034:1700017N19Rik	UTSW	10	100,445,118 (GRCm39)	critical splice donor site	probably null
R7036:1700017N19Rik	UTSW	10	100,445,118 (GRCm39)	critical splice donor site	probably null
R7394:1700017N19Rik	UTSW	10	100,445,038 (GRCm39)	missense	probably benign	0.01
R7412:1700017N19Rik	UTSW	10	100,448,691 (GRCm39)	nonsense	probably null
R7870:1700017N19Rik	UTSW	10	100,441,505 (GRCm39)	missense	probably benign
R7914:1700017N19Rik	UTSW	10	100,428,538 (GRCm39)	missense	probably benign
R8466:1700017N19Rik	UTSW	10	100,437,873 (GRCm39)	missense	probably benign	0.00
R8558:1700017N19Rik	UTSW	10	100,430,497 (GRCm39)	missense	probably benign	0.23
R9004:1700017N19Rik	UTSW	10	100,454,197 (GRCm39)	unclassified	probably benign
R9105:1700017N19Rik	UTSW	10	100,439,407 (GRCm39)	nonsense	probably null
R9641:1700017N19Rik	UTSW	10	100,430,498 (GRCm39)	missense	possibly damaging	0.91
Z1088:1700017N19Rik	UTSW	10	100,441,501 (GRCm39)	missense	probably damaging	1.00
Z1176:1700017N19Rik	UTSW	10	100,448,291 (GRCm39)	missense	probably damaging	0.98

Predicted Primers

PCR Primer
(F):5'- TGATACCCCATGCTTCACGTTCAG -3'
(R):5'- GGATGCTATCTTCCGGCCACTATTG -3'

Sequencing Primer
(F):5'- GCTTCACGTTCAGTGTATTTCTATG -3'
(R):5'- TCCGGCCACTATTGAAGATG -3'

Posted On

2014-04-13