Mutagenetix > Incidental Mutation

Incidental Mutation 'R4327:1700019A02Rik'

324393

Institutional Source

Beutler Lab

Gene Symbol

1700019A02Rik

Ensembl Gene

ENSMUSG00000060715

Gene Name

RIKEN cDNA 1700019A02 gene

Synonyms

MMRRC Submission

041097-MU

Accession Numbers

Essential gene?

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

Stock #

R4327 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

53197736-53226795 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 53221664 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glycine at position 55 (D55G)

Ref Sequence

ENSEMBL: ENSMUSP00000139938 (fasta)

Gene Model

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

AlphaFold

A0A087WPV9

Predicted Effect

possibly damaging
Transcript: ENSMUST00000072235
AA Change: D55G

PolyPhen 2 Score 0.904 (Sensitivity: 0.82; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000072089
Gene: ENSMUSG00000060715
AA Change: D55G

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

Predicted Effect

possibly damaging
Transcript: ENSMUST00000190748
AA Change: D55G

PolyPhen 2 Score 0.904 (Sensitivity: 0.82; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000139938
Gene: ENSMUSG00000060715
AA Change: D55G

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

Meta Mutation Damage Score

0.1795

Coding Region Coverage

1x: 99.3%
3x: 98.8%
10x: 97.6%
20x: 95.9%

Validation Efficiency

98% (64/65)

Allele List at MGI

Other mutations in this stock

Total: 57 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Alcam	T	C	16: 52,073,579 (GRCm39)	N549S	possibly damaging	Het
Arap2	A	T	5: 62,779,206 (GRCm39)	H1461Q	possibly damaging	Het
Arhgef12	C	A	9: 42,886,525 (GRCm39)	E1152*	probably null	Het
Arrdc5	T	C	17: 56,601,420 (GRCm39)	E235G	possibly damaging	Het
Atp1a3	A	G	7: 24,687,056 (GRCm39)		probably benign	Het
Bcl2l1	A	G	2: 152,624,099 (GRCm39)	V223A	probably benign	Het
C9orf72	T	A	4: 35,225,985 (GRCm39)		probably benign	Het
Cela3b	G	T	4: 137,151,242 (GRCm39)	A137E	probably benign	Het
Col13a1	T	C	10: 61,699,758 (GRCm39)	T476A	unknown	Het
Col16a1	T	C	4: 129,988,344 (GRCm39)		probably null	Het
Ctcfl	G	A	2: 172,955,299 (GRCm39)		probably benign	Het
Cyp2j8	T	A	4: 96,395,566 (GRCm39)	T20S	probably benign	Het
Fastkd2	A	G	1: 63,791,516 (GRCm39)	K675E	probably benign	Het
Fsip2	A	T	2: 82,817,403 (GRCm39)	I4379F	probably benign	Het
Gm10722	T	C	9: 3,000,937 (GRCm39)	C6R	probably benign	Het
Hmgxb3	A	T	18: 61,300,611 (GRCm39)	M155K	probably benign	Het
Ip6k2	G	A	9: 108,682,847 (GRCm39)	R319Q	probably benign	Het
Kcnn1	A	T	8: 71,305,307 (GRCm39)	V301E	probably damaging	Het
Kcnq4	T	C	4: 120,568,561 (GRCm39)	E385G	probably benign	Het
Klhl28	G	A	12: 64,996,952 (GRCm39)	A463V	probably damaging	Het
Lhb	A	G	7: 45,070,383 (GRCm39)	R3G	possibly damaging	Het
Lingo2	T	A	4: 35,708,462 (GRCm39)	D506V	probably damaging	Het
Macf1	C	T	4: 123,276,005 (GRCm39)	A4176T	probably damaging	Het
Marchf6	C	T	15: 31,498,887 (GRCm39)	E137K	probably benign	Het
Med12l	T	C	3: 59,172,688 (GRCm39)	S1813P	probably benign	Het
Mpp3	T	C	11: 101,914,337 (GRCm39)		probably benign	Het
Muc2	A	C	7: 141,281,577 (GRCm39)	S479R	probably damaging	Het
Or11g27	T	A	14: 50,770,971 (GRCm39)	I34N	probably benign	Het
Or12e10	G	T	2: 87,640,496 (GRCm39)	V111L	probably benign	Het
Or2t1	T	A	14: 14,328,193 (GRCm38)	F27L	probably damaging	Het
Or52n1	G	A	7: 104,382,833 (GRCm39)	T246I	probably damaging	Het
Pafah1b1	T	C	11: 74,573,066 (GRCm39)	T333A	probably benign	Het
Palm	G	A	10: 79,643,520 (GRCm39)	G83S	probably benign	Het
Pcdhb9	A	T	18: 37,534,875 (GRCm39)	S290C	probably benign	Het
Pcdhb9	G	T	18: 37,534,876 (GRCm39)	S290I	probably benign	Het
Pdgfrb	A	T	18: 61,204,792 (GRCm39)	I551F	possibly damaging	Het
Pex26	A	T	6: 121,164,373 (GRCm39)	E172V	probably damaging	Het
Pitrm1	A	G	13: 6,629,809 (GRCm39)		probably benign	Het
Ptprs	C	A	17: 56,754,468 (GRCm39)	A191S	possibly damaging	Het
Rdm1	T	A	11: 101,521,734 (GRCm39)	V92E	probably damaging	Het
Scn7a	A	G	2: 66,567,815 (GRCm39)	F260L	probably damaging	Het
Serpinb3a	T	A	1: 106,979,500 (GRCm39)	M1L	probably damaging	Het
Sh3d19	T	C	3: 86,031,020 (GRCm39)	I728T	probably benign	Het
Sin3a	T	C	9: 57,002,642 (GRCm39)	L178P	probably damaging	Het
Slc13a1	A	G	6: 24,103,478 (GRCm39)	V355A	probably benign	Het
St7	G	A	6: 17,819,287 (GRCm39)	V64M	probably damaging	Het
Tcf25	T	A	8: 124,127,882 (GRCm39)	L622*	probably null	Het
Tiam1	A	G	16: 89,652,779 (GRCm39)	V781A	possibly damaging	Het
Tigd2	C	A	6: 59,187,562 (GRCm39)	T143K	probably benign	Het
Tmem107	G	T	11: 68,962,301 (GRCm39)		probably null	Het
Tmem161b	G	A	13: 84,399,359 (GRCm39)	G5D	probably damaging	Het
Tonsl	G	A	15: 76,523,916 (GRCm39)	A28V	probably benign	Het
Treml4	T	C	17: 48,581,417 (GRCm39)	Y222H	probably damaging	Het
Trp53bp1	A	T	2: 121,087,131 (GRCm39)	V175D	probably damaging	Het
Zfp184	T	C	13: 22,144,072 (GRCm39)	Y593H	probably damaging	Het
Zfp286	A	G	11: 62,670,844 (GRCm39)	C410R	probably damaging	Het
Zfp934	T	G	13: 62,665,373 (GRCm39)	N312H	probably benign	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
R4060:1700019A02Rik	UTSW	1	53,197,928 (GRCm39)	missense	probably damaging	0.97
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
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'- TCAGACAAGTATCAGAATCAGGGC -3'
(R):5'- TGCAGACTCATTGGGAACTGAATG -3'

Sequencing Primer
(F):5'- GGGCAAATTTATATAAACACCAAGC -3'
(R):5'- CTTGGGTGTGAAGCCAAAGC -3'

Posted On

2015-06-24