Mutagenetix > Incidental Mutation

Incidental Mutation 'R2041:1700018F24Rik'

224909

Institutional Source

Beutler Lab

Gene Symbol

1700018F24Rik

Ensembl Gene

ENSMUSG00000029620

Gene Name

RIKEN cDNA 1700018F24 gene

Synonyms

MMRRC Submission

040048-MU

Accession Numbers

Essential gene?

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

Stock #

R2041 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

144979800-144982491 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 144982211 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glutamic Acid at position 265 (D265E)

Ref Sequence

ENSEMBL: ENSMUSP00000031624 (fasta)

Gene Model

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

AlphaFold

B2RW27

Predicted Effect

probably damaging
Transcript: ENSMUST00000031624
AA Change: D265E

PolyPhen 2 Score 0.988 (Sensitivity: 0.73; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000031624
Gene: ENSMUSG00000029620
AA Change: D265E

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

0.6467

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.2%
20x: 95.1%

Validation Efficiency

100% (61/61)

Allele List at MGI

Other mutations in this stock

Total: 58 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2610021A01Rik	A	G	7: 41,275,403 (GRCm39)	R369G	possibly damaging	Het
Actr3b	T	C	5: 25,965,128 (GRCm39)		probably null	Het
Adamts12	A	T	15: 11,215,821 (GRCm39)	M281L	probably damaging	Het
Aipl1	T	A	11: 71,922,332 (GRCm39)	M126L	possibly damaging	Het
Akap12	C	T	10: 4,306,489 (GRCm39)	P1100S	probably benign	Het
Alox8	T	A	11: 69,088,517 (GRCm39)	H40L	possibly damaging	Het
Anks1	T	A	17: 28,227,388 (GRCm39)	F659L	probably damaging	Het
Asxl3	G	T	18: 22,656,508 (GRCm39)	R1506L	probably benign	Het
Bicd2	A	G	13: 49,495,252 (GRCm39)	T36A	probably benign	Het
Ccar1	A	T	10: 62,601,827 (GRCm39)	L448Q	probably damaging	Het
Ccdc17	T	G	4: 116,456,789 (GRCm39)	N497K	probably damaging	Het
Chek2	T	C	5: 110,996,530 (GRCm39)	I164T	probably damaging	Het
Cntnap5c	T	C	17: 58,411,765 (GRCm39)		probably null	Het
Cntnap5c	T	A	17: 58,505,984 (GRCm39)	D669E	probably benign	Het
Cpsf6	A	G	10: 117,195,033 (GRCm39)	I482T	probably damaging	Het
Csf3	C	T	11: 98,592,483 (GRCm39)	S65L	possibly damaging	Het
Dlc1	A	G	8: 37,049,922 (GRCm39)	Y1049H	probably damaging	Het
Dnah6	T	C	6: 73,050,422 (GRCm39)	D3048G	probably damaging	Het
Eif4g3	T	A	4: 137,832,617 (GRCm39)		probably benign	Het
Epb41l4b	T	C	4: 57,084,070 (GRCm39)	K195R	probably damaging	Het
Epn1	T	C	7: 5,086,874 (GRCm39)	S41P	probably damaging	Het
Fam120a	C	A	13: 49,051,243 (GRCm39)	V721L	probably benign	Het
Fchsd1	T	A	18: 38,100,729 (GRCm39)		probably null	Het
Fer1l6	G	A	15: 58,430,155 (GRCm39)	G194D	probably damaging	Het
Fpr-rs4	CAGGAA	CA	17: 18,242,596 (GRCm39)		probably null	Het
Fyb1	A	C	15: 6,674,268 (GRCm39)	T635P	possibly damaging	Het
Gpr153	A	G	4: 152,367,810 (GRCm39)	S554G	probably benign	Het
Grm1	A	G	10: 10,622,347 (GRCm39)	F459L	probably damaging	Het
H60c	C	T	10: 3,209,972 (GRCm39)	G105D	probably damaging	Het
Ifnlr1	T	A	4: 135,433,148 (GRCm39)	M528K	possibly damaging	Het
Lama4	A	T	10: 38,945,987 (GRCm39)	D790V	probably damaging	Het
Mfsd13b	T	C	7: 120,591,139 (GRCm39)		probably benign	Het
Mis12	T	A	11: 70,916,132 (GRCm39)	I55N	probably damaging	Het
Morn1	T	C	4: 155,175,399 (GRCm39)	Y103H	probably damaging	Het
Mrgpra2b	C	T	7: 47,113,908 (GRCm39)	V249I	probably benign	Het
Ndst3	C	A	3: 123,465,864 (GRCm39)	G36V	probably benign	Het
Nlrp4a	T	A	7: 26,149,611 (GRCm39)	M406K	probably damaging	Het
Or4p18	T	C	2: 88,232,568 (GRCm39)	T237A	probably damaging	Het
Or51t4	T	A	7: 102,598,170 (GRCm39)	V156E	probably damaging	Het
Or5b106	A	T	19: 13,124,041 (GRCm39)		probably benign	Het
Or7g32	A	T	9: 19,408,131 (GRCm39)	D29V	probably benign	Het
Or9m1	T	C	2: 87,733,141 (GRCm39)	N293S	probably damaging	Het
Pars2	A	G	4: 106,510,814 (GRCm39)	T199A	probably damaging	Het
Plcb4	C	T	2: 135,780,191 (GRCm39)	T172I	probably damaging	Het
Pomgnt2	A	T	9: 121,811,354 (GRCm39)	W476R	probably benign	Het
Psg23	T	A	7: 18,348,703 (GRCm39)	S35C	possibly damaging	Het
Pycr3	T	A	15: 75,791,144 (GRCm39)		probably null	Het
Rab3gap1	T	C	1: 127,865,727 (GRCm39)	V764A	possibly damaging	Het
Rgs2	A	G	1: 143,877,960 (GRCm39)	F80S	probably damaging	Het
Sall1	A	G	8: 89,759,429 (GRCm39)	L225P	probably benign	Het
Setd3	A	G	12: 108,079,651 (GRCm39)	I284T	possibly damaging	Het
Slc4a9	C	T	18: 36,663,846 (GRCm39)	T290I	possibly damaging	Het
Tmem87b	T	C	2: 128,673,509 (GRCm39)	V251A	probably damaging	Het
Ube3b	T	C	5: 114,525,294 (GRCm39)	L39P	probably damaging	Het
Ubr2	C	A	17: 47,296,973 (GRCm39)	R269L	probably damaging	Het
Vrk2	A	T	11: 26,497,914 (GRCm39)	I90K	probably benign	Het
Zer1	G	A	2: 29,998,286 (GRCm39)	L342F	probably damaging	Het
Zfp984	A	T	4: 147,839,796 (GRCm39)	C352S	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
R4625:1700018F24Rik	UTSW	5	144,981,693 (GRCm39)	missense	possibly damaging	0.95
R5043:1700018F24Rik	UTSW	5	144,980,910 (GRCm39)	nonsense	probably null
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'- CAGGATGCCTCCAGAATGCAAG -3'
(R):5'- ACAGCTGGGTGGAACTCAGTAG -3'

Sequencing Primer
(F):5'- AGAATCTGGCTCTGAGGCTAGC -3'
(R):5'- GGTGGAACTCAGTAGATCATTTTCC -3'

Posted On

2014-08-25