Mutagenetix > Incidental Mutation

Incidental Mutation 'R4060:1700019A02Rik'

315799

Institutional Source

Beutler Lab

Gene Symbol

1700019A02Rik

Ensembl Gene

ENSMUSG00000060715

Gene Name

RIKEN cDNA 1700019A02 gene

Synonyms

MMRRC Submission

041618-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.164) question?

Stock #

R4060 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

53197736-53226795 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 53197928 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Glutamine at position 140 (L140Q)

Ref Sequence

ENSEMBL: ENSMUSP00000139938 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000072235] [ENSMUST00000190748]

AlphaFold

A0A087WPV9

Predicted Effect

probably damaging
Transcript: ENSMUST00000072235
AA Change: L140Q

PolyPhen 2 Score 0.974 (Sensitivity: 0.76; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000072089
Gene: ENSMUSG00000060715
AA Change: L140Q

Domain	Start	End	E-Value	Type
coiled coil region	38	68	N/A	INTRINSIC

Predicted Effect

probably damaging
Transcript: ENSMUST00000190748
AA Change: L140Q

PolyPhen 2 Score 0.974 (Sensitivity: 0.76; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000139938
Gene: ENSMUSG00000060715
AA Change: L140Q

Domain	Start	End	E-Value	Type
coiled coil region	38	68	N/A	INTRINSIC

Meta Mutation Damage Score

0.6467

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.4%
20x: 95.7%

Validation Efficiency

95% (41/43)

Allele List at MGI

Other mutations in this stock

Total: 38 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca8b	A	T	11: 109,848,027 (GRCm39)	M756K	probably benign	Het
Cd44	T	C	2: 102,731,687 (GRCm39)	D2G	probably damaging	Het
Cdan1	T	C	2: 120,556,224 (GRCm39)	I681V	probably benign	Het
Cdc5l	C	T	17: 45,721,816 (GRCm39)	A485T	probably benign	Het
Cfh	T	C	1: 140,047,664 (GRCm39)	I488M	possibly damaging	Het
Cntn2	T	A	1: 132,453,634 (GRCm39)	L346F	probably damaging	Het
Creb3l2	T	C	6: 37,311,484 (GRCm39)	H435R	probably benign	Het
Dmbt1	A	G	7: 130,675,932 (GRCm39)		probably benign	Het
Fam162a	C	T	16: 35,864,451 (GRCm39)	R38K	probably benign	Het
Fat1	A	T	8: 45,478,518 (GRCm39)	E2521D	probably benign	Het
Foxo1	A	G	3: 52,252,583 (GRCm39)	R249G	probably damaging	Het
Grm6	A	G	11: 50,744,051 (GRCm39)	E174G	probably damaging	Het
Gtpbp2	G	A	17: 46,478,253 (GRCm39)	R467H	probably damaging	Het
Hypk	A	G	2: 121,284,160 (GRCm39)		probably benign	Het
Ifih1	T	C	2: 62,429,143 (GRCm39)	T932A	possibly damaging	Het
Igfbp1	C	A	11: 7,148,091 (GRCm39)	P45T	probably damaging	Het
Ik	A	G	18: 36,881,943 (GRCm39)	K142E	probably damaging	Het
Ltbp3	T	C	19: 5,792,348 (GRCm39)	L27P	probably benign	Het
Mast3	A	G	8: 71,233,838 (GRCm39)	V969A	probably damaging	Het
Mrps24	G	A	11: 5,654,676 (GRCm39)	R93*	probably null	Het
Or13a20	T	C	7: 140,232,033 (GRCm39)	I47T	probably damaging	Het
Or1j14	A	G	2: 36,417,426 (GRCm39)	M1V	probably null	Het
Or7g19	T	C	9: 18,856,346 (GRCm39)	V134A	probably benign	Het
Otop2	G	A	11: 115,220,201 (GRCm39)	G347D	probably damaging	Het
Pcdhb20	A	G	18: 37,639,217 (GRCm39)	E581G	probably damaging	Het
Rnf146	T	C	10: 29,223,363 (GRCm39)	I174M	probably damaging	Het
Serpinb9g	G	A	13: 33,679,089 (GRCm39)	V320I	probably benign	Het
Sh3pxd2b	G	T	11: 32,372,263 (GRCm39)	A477S	probably benign	Het
Slc23a3	T	G	1: 75,109,964 (GRCm39)		probably benign	Het
Ssrp1	T	G	2: 84,871,978 (GRCm39)	Y401D	probably damaging	Het
Tas2r109	A	T	6: 132,957,148 (GRCm39)	W261R	probably damaging	Het
Tas2r144	T	C	6: 42,192,563 (GRCm39)	V101A	possibly damaging	Het
Tead1	T	A	7: 112,475,269 (GRCm39)		probably null	Het
Tiam2	A	G	17: 3,479,255 (GRCm39)	S663G	probably benign	Het
Trbv20	T	G	6: 41,165,195 (GRCm39)		probably benign	Het
Tspan9	T	C	6: 128,011,135 (GRCm39)	I19M	probably benign	Het
Ttbk2	T	A	2: 120,579,465 (GRCm39)	E552D	probably benign	Het
Zfp292	A	G	4: 34,810,863 (GRCm39)	V727A	probably damaging	Het

Other mutations in 1700019A02Rik

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01728:1700019A02Rik	APN	1	53,221,668 (GRCm39)	missense	probably benign	0.03
IGL02249:1700019A02Rik	APN	1	53,224,431 (GRCm39)	nonsense	probably null
IGL02727:1700019A02Rik	APN	1	53,226,724 (GRCm39)	missense	probably benign	0.00
IGL02970:1700019A02Rik	APN	1	53,226,748 (GRCm39)	missense	probably damaging	0.99
IGL03402:1700019A02Rik	APN	1	53,216,972 (GRCm39)	missense	probably benign	0.00
R1557:1700019A02Rik	UTSW	1	53,221,025 (GRCm39)	missense	possibly damaging	0.81
R1955:1700019A02Rik	UTSW	1	53,202,400 (GRCm39)	missense	probably benign	0.09
R4030:1700019A02Rik	UTSW	1	53,221,668 (GRCm39)	missense	probably benign	0.03
R4061:1700019A02Rik	UTSW	1	53,197,928 (GRCm39)	missense	probably damaging	0.97
R4062:1700019A02Rik	UTSW	1	53,197,928 (GRCm39)	missense	probably damaging	0.97
R4327:1700019A02Rik	UTSW	1	53,221,664 (GRCm39)	missense	possibly damaging	0.90
R6018:1700019A02Rik	UTSW	1	53,202,405 (GRCm39)	critical splice acceptor site	probably null
R7490:1700019A02Rik	UTSW	1	53,202,389 (GRCm39)	missense	possibly damaging	0.90
R7715:1700019A02Rik	UTSW	1	53,221,659 (GRCm39)	missense	probably benign
R9487:1700019A02Rik	UTSW	1	53,221,665 (GRCm39)	missense	possibly damaging	0.90

Predicted Primers

PCR Primer
(F):5'- TCATCTCAAGCATGACAAGATAATG -3'
(R):5'- AAGCTGCATCTGGTGGTGAAG -3'

Sequencing Primer
(F):5'- AGCAATTCCATTCTGTTCTA -3'
(R):5'- GCCATGTCGGAACTAACATCTTGTG -3'

Posted On

2015-05-15