Mutagenetix > Incidental Mutation

Incidental Mutation 'R7191:2510009E07Rik'

559617

Institutional Source

Beutler Lab

Gene Symbol

2510009E07Rik

Ensembl Gene

ENSMUSG00000043391

Gene Name

RIKEN cDNA 2510009E07 gene

Synonyms

MMRRC Submission

045274-MU

Accession Numbers

Essential gene?

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

Stock #

R7191 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

21467795-21513415 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 21472314 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Phenylalanine at position 129 (I129F)

Ref Sequence

ENSEMBL: ENSMUSP00000062303 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000053336] [ENSMUST00000232164]

AlphaFold

no structure available at present

Predicted Effect

probably benign
Transcript: ENSMUST00000053336
AA Change: I129F

PolyPhen 2 Score 0.110 (Sensitivity: 0.93; Specificity: 0.86)

SMART Domains

Protein: ENSMUSP00000062303
Gene: ENSMUSG00000043391
AA Change: I129F

Domain	Start	End	E-Value	Type
Pfam:UPF0524	12	248	1e-133	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000232164
AA Change: I59F

PolyPhen 2 Score 0.110 (Sensitivity: 0.93; Specificity: 0.86)

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.8%
20x: 99.2%

Validation Efficiency

100% (52/52)

Allele List at MGI

Other mutations in this stock

Total: 52 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Actmap	G	A	7: 26,900,548 (GRCm39)	A176T	probably damaging	Het
Ank2	T	A	3: 126,740,041 (GRCm39)	T1948S	unknown	Het
Arap1	T	C	7: 101,034,199 (GRCm39)	C214R	probably benign	Het
Ccdc82	C	T	9: 13,252,097 (GRCm39)	Q130*	probably null	Het
Cfh	A	C	1: 140,040,305 (GRCm39)	V597G	probably benign	Het
Clp1	A	T	2: 84,554,490 (GRCm39)	C226*	probably null	Het
Cyp39a1	G	A	17: 44,041,910 (GRCm39)	W372*	probably null	Het
Dchs1	G	A	7: 105,414,646 (GRCm39)	P799S	possibly damaging	Het
Dmbt1	A	T	7: 130,646,250 (GRCm39)	N167I	unknown	Het
Dock10	A	G	1: 80,518,048 (GRCm39)	S1310P	possibly damaging	Het
Fam83h	C	T	15: 75,874,886 (GRCm39)	G817D	probably damaging	Het
Fras1	A	G	5: 96,762,771 (GRCm39)	T758A	probably benign	Het
Fryl	T	C	5: 73,230,255 (GRCm39)	H1634R	probably damaging	Het
Gcg	C	G	2: 62,307,183 (GRCm39)	G126A	probably damaging	Het
Get1	A	G	16: 95,953,145 (GRCm39)	I79V	possibly damaging	Het
Gne	T	C	4: 44,040,266 (GRCm39)	K633E	probably benign	Het
Gpr4	T	C	7: 18,957,155 (GRCm39)	V359A	probably benign	Het
Gprc5c	C	T	11: 114,759,443 (GRCm39)	T422M	possibly damaging	Het
Gria2	C	A	3: 80,639,392 (GRCm39)	V207L	probably benign	Het
Hid1	T	C	11: 115,239,295 (GRCm39)	*789W	probably null	Het
Iigp1c	A	T	18: 60,379,329 (GRCm39)	D288V	probably benign	Het
Jakmip3	G	A	7: 138,591,257 (GRCm39)		probably null	Het
Kin	G	A	2: 10,096,604 (GRCm39)	R151Q	probably benign	Het
Krt16	T	C	11: 100,137,484 (GRCm39)	E407G	probably damaging	Het
Krt81	T	C	15: 101,358,110 (GRCm39)	D381G	probably damaging	Het
Lrrc34	C	T	3: 30,679,027 (GRCm39)	G357S	possibly damaging	Het
Lypd11	C	T	7: 24,422,759 (GRCm39)	V105I	possibly damaging	Het
Mipol1	A	G	12: 57,503,852 (GRCm39)	Q340R	probably benign	Het
Mpzl3	T	G	9: 44,966,542 (GRCm39)	M1R	probably null	Het
Nrcam	A	G	12: 44,619,027 (GRCm39)	N852S	probably benign	Het
Nudcd2	C	T	11: 40,627,430 (GRCm39)	Q117*	probably null	Het
Nup35	A	T	2: 80,488,723 (GRCm39)	E320V	probably damaging	Het
Olfml3	T	C	3: 103,643,176 (GRCm39)	K402E	probably damaging	Het
Or5p56	G	A	7: 107,589,853 (GRCm39)	V94M	possibly damaging	Het
Pkhd1	T	C	1: 20,628,943 (GRCm39)	H668R	probably benign	Het
Ptprc	T	A	1: 138,028,782 (GRCm39)	D333V	probably benign	Het
Rdh16	A	G	10: 127,649,287 (GRCm39)	K248E	probably benign	Het
Samd4b	C	A	7: 28,113,686 (GRCm39)	G93V	probably benign	Het
Scgn	A	G	13: 24,165,476 (GRCm39)	I78T	probably benign	Het
Slfn14	T	C	11: 83,167,575 (GRCm39)	I647V	probably benign	Het
Smyd5	T	C	6: 85,417,093 (GRCm39)	V157A	probably benign	Het
Syde2	T	C	3: 145,708,113 (GRCm39)	M951T	probably benign	Het
Tas2r105	T	C	6: 131,663,945 (GRCm39)	N161S	probably damaging	Het
Tbck	T	C	3: 132,443,316 (GRCm39)	F581L	probably damaging	Het
Traip	A	G	9: 107,847,216 (GRCm39)	N352D	probably benign	Het
Trim29	A	G	9: 43,222,906 (GRCm39)	Y245C	probably damaging	Het
Trpv4	T	C	5: 114,771,201 (GRCm39)	I443V	probably benign	Het
Usp36	C	T	11: 118,159,660 (GRCm39)	E595K	probably benign	Het
Vmn2r51	T	A	7: 9,834,480 (GRCm39)	Y186F	probably null	Het
Vmn2r97	A	G	17: 19,150,548 (GRCm39)	Y465C	probably damaging	Het
Zfp277	A	T	12: 40,379,561 (GRCm39)	H324Q	probably damaging	Het
Zfp987	A	G	4: 146,058,473 (GRCm39)	D17G	probably damaging	Het

Other mutations in 2510009E07Rik

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00093:2510009E07Rik	APN	16	21,472,310 (GRCm39)	missense	probably damaging	1.00
R1624:2510009E07Rik	UTSW	16	21,472,496 (GRCm39)	missense	probably damaging	1.00
R1840:2510009E07Rik	UTSW	16	21,472,236 (GRCm39)	missense	probably benign
R1971:2510009E07Rik	UTSW	16	21,472,048 (GRCm39)	nonsense	probably null
R4740:2510009E07Rik	UTSW	16	21,513,146 (GRCm39)	missense	probably benign	0.01
R5493:2510009E07Rik	UTSW	16	21,471,993 (GRCm39)	missense	possibly damaging	0.94
R5519:2510009E07Rik	UTSW	16	21,472,218 (GRCm39)	missense	probably benign	0.00
R7239:2510009E07Rik	UTSW	16	21,472,268 (GRCm39)	missense	probably damaging	0.97
R7487:2510009E07Rik	UTSW	16	21,472,479 (GRCm39)	missense	probably damaging	1.00
R7623:2510009E07Rik	UTSW	16	21,513,092 (GRCm39)	missense	probably damaging	0.99
R8904:2510009E07Rik	UTSW	16	21,472,148 (GRCm39)	frame shift	probably null
R8906:2510009E07Rik	UTSW	16	21,472,148 (GRCm39)	frame shift	probably null

Predicted Primers

PCR Primer
(F):5'- AGGATTCCACATAGTGAGCCC -3'
(R):5'- GTGTATCAGCCTATGACCCC -3'

Sequencing Primer
(F):5'- TTCCACATAGTGAGCCCCAATGG -3'
(R):5'- TATGACCCCCGTGGAGCAG -3'

Posted On

2019-06-26