Mutagenetix > Incidental Mutation

Incidental Mutation 'R5753:2310003L06Rik'

444885

Institutional Source

Beutler Lab

Gene Symbol

2310003L06Rik

Ensembl Gene

ENSMUSG00000007457

Gene Name

RIKEN cDNA 2310003L06 gene

Synonyms

MMRRC Submission

043358-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.081) question?

Stock #

R5753 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

88117318-88120729 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 88120374 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Isoleucine at position 377 (T377I)

Ref Sequence

ENSEMBL: ENSMUSP00000007601 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000007601] [ENSMUST00000187738]

AlphaFold

Q9CV82

Predicted Effect

probably damaging
Transcript: ENSMUST00000007601
AA Change: T377I

PolyPhen 2 Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000007601
Gene: ENSMUSG00000007457
AA Change: T377I

Domain	Start	End	E-Value	Type
signal peptide	1	22	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000187738

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000190123

Meta Mutation Damage Score

0.6467

Coding Region Coverage

1x: 99.3%
3x: 98.7%
10x: 97.5%
20x: 96.0%

Validation Efficiency

97% (58/60)

Allele List at MGI

Other mutations in this stock

Total: 55 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcb1a	A	G	5: 8,773,160 (GRCm39)	D796G	probably damaging	Het
Actn3	T	C	19: 4,914,595 (GRCm39)		probably null	Het
Ada	A	T	2: 163,577,318 (GRCm39)	S57T	probably benign	Het
Adamts6	A	G	13: 104,483,858 (GRCm39)	Y359C	probably damaging	Het
Adcy1	A	T	11: 7,080,300 (GRCm39)	I348F	probably damaging	Het
Ankrd11	T	C	8: 123,622,043 (GRCm39)	E603G	possibly damaging	Het
Bcas3	A	G	11: 85,712,910 (GRCm39)		probably benign	Het
Cldn1	C	A	16: 26,181,871 (GRCm39)	V113L	probably benign	Het
Dock9	T	C	14: 121,872,037 (GRCm39)	T540A	probably benign	Het
Erp27	A	G	6: 136,896,875 (GRCm39)	F109S	probably damaging	Het
F13a1	G	A	13: 37,082,082 (GRCm39)	Q541*	probably null	Het
Fam124a	T	C	14: 62,843,988 (GRCm39)	S499P	probably benign	Het
Fgd3	T	A	13: 49,428,416 (GRCm39)	E486V	possibly damaging	Het
Flnc	T	C	6: 29,433,488 (GRCm39)	S11P	probably benign	Het
Gm12508	C	A	4: 55,254,787 (GRCm39)		noncoding transcript	Het
Grk2	C	T	19: 4,340,496 (GRCm39)	R295H	probably damaging	Het
Gtf2ird1	A	G	5: 134,439,837 (GRCm39)	M131T	probably damaging	Het
H4c4	G	A	13: 23,765,587 (GRCm39)	M1I	probably null	Het
Itpripl2	A	G	7: 118,090,232 (GRCm39)	V109A	probably damaging	Het
Jakmip2	T	C	18: 43,692,181 (GRCm39)	E585G	probably damaging	Het
Kbtbd3	A	T	9: 4,331,404 (GRCm39)	I593F	possibly damaging	Het
Lgr4	C	T	2: 109,832,857 (GRCm39)	Q316*	probably null	Het
Mcf2l	T	C	8: 13,049,993 (GRCm39)	F305S	probably damaging	Het
Nos1ap	T	A	1: 170,176,968 (GRCm39)	K145M	probably damaging	Het
Or4c3	T	C	2: 89,851,847 (GRCm39)	T188A	possibly damaging	Het
Or4k51	T	A	2: 111,585,146 (GRCm39)	I184K	possibly damaging	Het
Or4q3	T	A	14: 50,583,045 (GRCm39)	T285S	probably damaging	Het
Or51b17	A	G	7: 103,542,408 (GRCm39)	L178P	probably damaging	Het
Or5d18	G	A	2: 87,864,920 (GRCm39)	L188F	probably damaging	Het
Or5w18	A	T	2: 87,633,596 (GRCm39)	M288L	probably benign	Het
Or7a40	A	T	16: 16,491,484 (GRCm39)	Y120*	probably null	Het
Pcdh9	T	A	14: 94,125,597 (GRCm39)	D191V	probably damaging	Het
Pde4d	T	A	13: 109,909,256 (GRCm39)		probably benign	Het
Phkb	C	T	8: 86,604,859 (GRCm39)	A88V	probably damaging	Het
Plec	A	G	15: 76,057,620 (GRCm39)	S4128P	probably damaging	Het
Plekha5	A	T	6: 140,482,730 (GRCm39)		probably null	Het
Rgs13	A	C	1: 144,016,478 (GRCm39)	N88K	probably benign	Het
Rho	T	A	6: 115,912,448 (GRCm39)	I104N	probably damaging	Het
Rnps1	T	C	17: 24,637,138 (GRCm39)		probably benign	Het
Saxo5	A	T	8: 3,534,112 (GRCm39)	I350L	probably benign	Het
Slc10a7	G	T	8: 79,251,928 (GRCm39)		probably null	Het
Slc39a7	C	T	17: 34,249,150 (GRCm39)	R246K	probably damaging	Het
Sort1	G	C	3: 108,253,090 (GRCm39)	G510A	probably damaging	Het
Spag6l	A	G	16: 16,584,831 (GRCm39)		probably null	Het
Sync	T	A	4: 129,187,179 (GRCm39)	Y70*	probably null	Het
Timm8a2	T	C	14: 122,272,289 (GRCm39)	V64A	probably benign	Het
Tnfrsf11b	C	A	15: 54,117,455 (GRCm39)	V267L	possibly damaging	Het
Trim30b	A	G	7: 104,006,544 (GRCm39)	V104A	possibly damaging	Het
Tusc3	T	C	8: 39,564,100 (GRCm39)	S244P	probably damaging	Het
Usp16	T	A	16: 87,279,787 (GRCm39)	Y746N	probably damaging	Het
Vax1	G	T	19: 59,154,814 (GRCm39)	H274Q	probably benign	Het
Vmn2r108	A	G	17: 20,683,179 (GRCm39)	V675A	probably damaging	Het
Vmn2r12	A	T	5: 109,239,670 (GRCm39)	W298R	probably damaging	Het
Zfp948	A	G	17: 21,807,156 (GRCm39)	N116S	probably damaging	Het
Zkscan2	A	G	7: 123,079,923 (GRCm39)	V678A	probably benign	Het

Other mutations in 2310003L06Rik

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01396:2310003L06Rik	APN	5	88,120,649 (GRCm39)	missense	probably benign	0.37
IGL01938:2310003L06Rik	APN	5	88,119,567 (GRCm39)	missense	probably damaging	0.99
IGL03032:2310003L06Rik	APN	5	88,119,774 (GRCm39)	missense	possibly damaging	0.94
D3080:2310003L06Rik	UTSW	5	88,119,846 (GRCm39)	missense	possibly damaging	0.53
G1Funyon:2310003L06Rik	UTSW	5	88,120,364 (GRCm39)	missense	probably benign	0.01
IGL02984:2310003L06Rik	UTSW	5	88,120,662 (GRCm39)	missense	probably damaging	0.97
PIT4243001:2310003L06Rik	UTSW	5	88,119,999 (GRCm39)	missense	possibly damaging	0.95
R0359:2310003L06Rik	UTSW	5	88,112,455 (GRCm39)	unclassified	probably benign
R0676:2310003L06Rik	UTSW	5	88,112,516 (GRCm39)	unclassified	probably benign
R1524:2310003L06Rik	UTSW	5	88,119,548 (GRCm39)	missense	probably benign	0.37
R1536:2310003L06Rik	UTSW	5	88,118,524 (GRCm39)	missense	probably benign
R1998:2310003L06Rik	UTSW	5	88,118,553 (GRCm39)	missense	probably damaging	0.98
R2080:2310003L06Rik	UTSW	5	88,119,792 (GRCm39)	missense	probably damaging	1.00
R2132:2310003L06Rik	UTSW	5	88,112,335 (GRCm39)	unclassified	probably benign
R2177:2310003L06Rik	UTSW	5	88,120,312 (GRCm39)	missense	probably damaging	0.98
R2399:2310003L06Rik	UTSW	5	88,120,338 (GRCm39)	missense	probably damaging	0.98
R3748:2310003L06Rik	UTSW	5	88,112,422 (GRCm39)	unclassified	probably benign
R4010:2310003L06Rik	UTSW	5	88,120,136 (GRCm39)	missense	probably damaging	0.96
R4096:2310003L06Rik	UTSW	5	88,120,008 (GRCm39)	missense	possibly damaging	0.57
R4656:2310003L06Rik	UTSW	5	88,112,534 (GRCm39)	unclassified	probably benign
R4823:2310003L06Rik	UTSW	5	88,120,457 (GRCm39)	missense	probably benign	0.00
R6087:2310003L06Rik	UTSW	5	88,119,621 (GRCm39)	missense	possibly damaging	0.94
R6931:2310003L06Rik	UTSW	5	88,118,561 (GRCm39)	missense	probably damaging	0.97
R7032:2310003L06Rik	UTSW	5	88,120,438 (GRCm39)	missense	possibly damaging	0.79
R7703:2310003L06Rik	UTSW	5	88,120,671 (GRCm39)	missense	possibly damaging	0.90
R7912:2310003L06Rik	UTSW	5	88,120,451 (GRCm39)	missense	probably benign	0.35
R8185:2310003L06Rik	UTSW	5	88,120,011 (GRCm39)	missense	possibly damaging	0.73
R8301:2310003L06Rik	UTSW	5	88,120,364 (GRCm39)	missense	probably benign	0.01
R9010:2310003L06Rik	UTSW	5	88,119,504 (GRCm39)	missense	possibly damaging	0.68
R9179:2310003L06Rik	UTSW	5	88,119,890 (GRCm39)	missense	probably benign	0.00
R9225:2310003L06Rik	UTSW	5	88,120,433 (GRCm39)	missense	probably benign
R9226:2310003L06Rik	UTSW	5	88,118,518 (GRCm39)	start codon destroyed	probably benign	0.14
R9309:2310003L06Rik	UTSW	5	88,120,332 (GRCm39)	missense	probably damaging	0.99
R9373:2310003L06Rik	UTSW	5	88,120,668 (GRCm39)	missense	probably benign	0.37
R9431:2310003L06Rik	UTSW	5	88,120,325 (GRCm39)	missense	possibly damaging	0.78
Z1088:2310003L06Rik	UTSW	5	88,120,165 (GRCm39)	missense	probably damaging	0.97

Predicted Primers

PCR Primer
(F):5'- GATGCTGTCTTTCAGGAAACAG -3'
(R):5'- GCATCAGGAATTGGTTTGGAGATAG -3'

Sequencing Primer
(F):5'- GTCTTTCAGGAAACAGAAGATATTCC -3'
(R):5'- AGATGTAGGGACTGCAGT -3'

Posted On

2016-11-21