Mutagenetix > Incidental Mutation

Incidental Mutation 'R5043:1700018F24Rik'

393297

Institutional Source

Beutler Lab

Gene Symbol

1700018F24Rik

Ensembl Gene

ENSMUSG00000029620

Gene Name

RIKEN cDNA 1700018F24 gene

Synonyms

MMRRC Submission

042633-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.056) question?

Stock #

R5043 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

144979800-144982491 bp(+) (GRCm39)

Type of Mutation

nonsense

DNA Base Change (assembly)

T to A at 144980910 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Stop codon at position 106 (Y106*)

Ref Sequence

ENSEMBL: ENSMUSP00000031624 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000031624] [ENSMUST00000151196]

AlphaFold

B2RW27

Predicted Effect

probably null
Transcript: ENSMUST00000031624
AA Change: Y106*

SMART Domains

Protein: ENSMUSP00000031624
Gene: ENSMUSG00000029620
AA Change: Y106*

Domain	Start	End	E-Value	Type
Pfam:RasGEF_N	62	153	2.9e-10	PFAM
low complexity region	166	186	N/A	INTRINSIC
low complexity region	230	241	N/A	INTRINSIC
low complexity region	260	286	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000151196

Meta Mutation Damage Score

0.9755

Coding Region Coverage

1x: 99.1%
3x: 98.3%
10x: 96.3%
20x: 92.4%

Validation Efficiency

98% (44/45)

Allele List at MGI

Other mutations in this stock

Total: 40 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acsbg3	A	G	17: 57,192,198 (GRCm39)	Y587C	probably damaging	Het
Akap12	G	C	10: 4,305,047 (GRCm39)	G619A	probably damaging	Het
Arhgap29	A	G	3: 121,767,653 (GRCm39)	K32E	probably benign	Het
Capg	T	A	6: 72,535,237 (GRCm39)	Y253*	probably null	Het
Cntnap3	A	T	13: 64,942,162 (GRCm39)	F189L	probably damaging	Het
Cp	T	C	3: 20,028,081 (GRCm39)	S496P	probably benign	Het
Cxcl11	T	C	5: 92,511,011 (GRCm39)		probably null	Het
Dennd3	T	C	15: 73,399,785 (GRCm39)	L217P	probably benign	Het
Dip2c	G	T	13: 9,601,863 (GRCm39)	R274L	possibly damaging	Het
Dnah12	C	T	14: 26,606,147 (GRCm39)	S3776L	probably damaging	Het
Emcn	A	G	3: 137,097,362 (GRCm39)	T94A	possibly damaging	Het
Fnip2	A	T	3: 79,400,174 (GRCm39)	Y397*	probably null	Het
Gabrp	T	C	11: 33,518,072 (GRCm39)	N79D	probably benign	Het
Glmp	T	G	3: 88,233,983 (GRCm39)		probably benign	Het
Gm5921	C	T	9: 115,267,087 (GRCm39)		noncoding transcript	Het
Gm6483	A	G	8: 19,743,686 (GRCm39)	T104A	probably benign	Het
Ifi206	A	T	1: 173,314,284 (GRCm39)	M52K	probably damaging	Het
Iqcc	T	C	4: 129,512,070 (GRCm39)		probably benign	Het
Klra2	T	A	6: 131,197,135 (GRCm39)	H288L	probably benign	Het
Myo5b	T	C	18: 74,771,224 (GRCm39)		probably null	Het
Nisch	A	G	14: 30,898,422 (GRCm39)		probably benign	Het
Nlrp4c	A	G	7: 6,069,824 (GRCm39)	N575S	probably benign	Het
Or1n2	A	C	2: 36,796,977 (GRCm39)	R6S	probably benign	Het
Or8b49	A	G	9: 38,506,137 (GRCm39)	I207V	probably damaging	Het
Phlda1	T	A	10: 111,343,152 (GRCm39)	L296Q	unknown	Het
Pramel19	T	C	4: 101,797,721 (GRCm39)	F40L	possibly damaging	Het
Rab36	G	A	10: 74,886,837 (GRCm39)	E182K	probably benign	Het
Rasa3	G	A	8: 13,620,368 (GRCm39)	T767M	possibly damaging	Het
Serpinb11	G	A	1: 107,297,195 (GRCm39)	V24M	probably damaging	Het
Slc7a14	T	G	3: 31,291,615 (GRCm39)	N221T	probably damaging	Het
Smg6	T	C	11: 74,820,721 (GRCm39)	S331P	possibly damaging	Het
Snx1	C	T	9: 66,004,718 (GRCm39)	A183T	probably benign	Het
Srpk2	T	C	5: 23,729,515 (GRCm39)	T375A	probably benign	Het
Tecpr1	T	C	5: 144,134,672 (GRCm39)		probably null	Het
Topaz1	A	T	9: 122,577,469 (GRCm39)	E126D	probably benign	Het
Ugt2b1	C	G	5: 87,065,503 (GRCm39)	C512S	possibly damaging	Het
Ugt2b37	C	T	5: 87,399,719 (GRCm39)	W263*	probably null	Het
Utp20	A	T	10: 88,634,608 (GRCm39)	M750K	possibly damaging	Het
Yeats2	A	T	16: 20,027,215 (GRCm39)	Q822L	probably damaging	Het
Zfp609	T	C	9: 65,608,109 (GRCm39)	Y1257C	probably damaging	Het

Other mutations in 1700018F24Rik

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01625:1700018F24Rik	APN	5	144,979,957 (GRCm39)	missense	possibly damaging	0.83
IGL01751:1700018F24Rik	APN	5	144,979,981 (GRCm39)	splice site	probably null
IGL02928:1700018F24Rik	APN	5	144,980,327 (GRCm39)	missense	probably damaging	1.00
IGL03324:1700018F24Rik	APN	5	144,982,261 (GRCm39)	missense	probably benign	0.01
PIT4486001:1700018F24Rik	UTSW	5	144,980,914 (GRCm39)	missense	probably damaging	1.00
R0359:1700018F24Rik	UTSW	5	144,982,181 (GRCm39)	nonsense	probably null
R0554:1700018F24Rik	UTSW	5	144,982,181 (GRCm39)	nonsense	probably null
R0724:1700018F24Rik	UTSW	5	144,981,573 (GRCm39)	missense	probably benign	0.10
R1774:1700018F24Rik	UTSW	5	144,982,351 (GRCm39)	missense	probably damaging	0.99
R2041:1700018F24Rik	UTSW	5	144,982,211 (GRCm39)	missense	probably damaging	0.99
R4625:1700018F24Rik	UTSW	5	144,981,693 (GRCm39)	missense	possibly damaging	0.95
R5610:1700018F24Rik	UTSW	5	144,982,156 (GRCm39)	missense	possibly damaging	0.92
R5712:1700018F24Rik	UTSW	5	144,981,563 (GRCm39)	missense	probably benign	0.32
R6163:1700018F24Rik	UTSW	5	144,982,098 (GRCm39)	nonsense	probably null
R6799:1700018F24Rik	UTSW	5	144,981,624 (GRCm39)	missense	probably damaging	1.00
R7174:1700018F24Rik	UTSW	5	144,981,627 (GRCm39)	missense	probably benign	0.27
R8127:1700018F24Rik	UTSW	5	144,980,249 (GRCm39)	missense	possibly damaging	0.93
R8688:1700018F24Rik	UTSW	5	144,982,183 (GRCm39)	missense	probably damaging	0.98
R8975:1700018F24Rik	UTSW	5	144,980,192 (GRCm39)	missense	probably damaging	0.97
R9289:1700018F24Rik	UTSW	5	144,982,333 (GRCm39)	missense	probably benign	0.00
R9473:1700018F24Rik	UTSW	5	144,980,912 (GRCm39)	missense	probably benign	0.01

Predicted Primers

PCR Primer
(F):5'- TGGAACCAACCAAGAGCTCTG -3'
(R):5'- ATACCTCACTCCACAGTTGGG -3'

Sequencing Primer
(F):5'- CTCTGATAGGGAACAGCTAGGCTTC -3'
(R):5'- ACTCCACAGTTGGGCCTTAC -3'

Posted On

2016-06-15