Mutagenetix > Incidental Mutation

Incidental Mutation 'R4698:1700122O11Rik'

355864

Institutional Source

Beutler Lab

Gene Symbol

1700122O11Rik

Ensembl Gene

ENSMUSG00000094928

Gene Name

RIKEN cDNA 1700122O11 gene

Synonyms

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.058) question?

Stock #

R4698 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

48036745-48038293 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 48038240 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 11 (V11A)

Ref Sequence

ENSEMBL: ENSMUSP00000137519 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000178823]

AlphaFold

J3QPW6

Predicted Effect

possibly damaging
Transcript: ENSMUST00000178823
AA Change: V11A

PolyPhen 2 Score 0.455 (Sensitivity: 0.89; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000137519
Gene: ENSMUSG00000094928
AA Change: V11A

Domain	Start	End	E-Value	Type
coiled coil region	42	73	N/A	INTRINSIC

Coding Region Coverage

1x: 99.2%
3x: 98.5%
10x: 96.9%
20x: 94.3%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 60 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
6030452D12Rik	T	C	8: 106,504,347	I55T	unknown	Het
Aadacl2	A	G	3: 60,025,039	D325G	probably benign	Het
Adh1	A	G	3: 138,282,513	S113G	probably benign	Het
Agxt2	T	C	15: 10,392,044		probably null	Het
Aicda	C	T	6: 122,553,888		probably benign	Het
Aifm2	T	C	10: 61,727,756	M135T	probably benign	Het
Asah2	T	C	19: 32,054,471		probably null	Het
Btbd17	T	C	11: 114,791,717	R390G	probably damaging	Het
Cadps	T	C	14: 12,705,654	E247G	possibly damaging	Het
Cds2	T	C	2: 132,304,953	I383T	probably damaging	Het
Celf3	T	A	3: 94,484,867		probably null	Het
Crhr2	T	C	6: 55,102,867	S162G	possibly damaging	Het
Dapl1	A	T	2: 59,504,774	K91*	probably null	Het
Ddx60	A	C	8: 62,012,424	M1372L	probably benign	Het
Dnah2	A	T	11: 69,498,532	F845I	probably damaging	Het
Dscam	T	C	16: 96,610,324	D1784G	probably damaging	Het
Ech1	T	C	7: 28,832,053	V310A	probably benign	Het
Eef1g	A	G	19: 8,977,966	D393G	possibly damaging	Het
Eif3k	T	C	7: 28,972,544	I172V	possibly damaging	Het
Foxd4	A	G	19: 24,900,261	F192L	probably damaging	Het
Gpr153	T	A	4: 152,281,783	S268R	probably damaging	Het
Hist2h3b	C	A	3: 96,269,078	R129S	probably damaging	Het
Ivl	T	C	3: 92,571,391	K456E	unknown	Het
Kif20b	A	T	19: 34,951,544	D1190V	probably damaging	Het
Kif21a	T	A	15: 90,956,305	I1223L	possibly damaging	Het
Lmf1	T	C	17: 25,579,350	V55A	probably damaging	Het
Loxhd1	A	G	18: 77,372,291	E659G	possibly damaging	Het
Lrrc37a	T	C	11: 103,504,104	E165G	possibly damaging	Het
Mios	T	C	6: 8,228,113	Y677H	possibly damaging	Het
Mnx1	T	A	5: 29,474,059	K342M	unknown	Het
Mtpap	A	T	18: 4,375,724	T35S	possibly damaging	Het
Ndc1	C	G	4: 107,411,137	D623E	probably benign	Het
Nedd4l	A	G	18: 65,203,880	Y666C	probably damaging	Het
Olfr1022	A	G	2: 85,869,252	Y220C	possibly damaging	Het
Olfr1445	T	G	19: 12,884,621	F247V	probably benign	Het
Olfr204	T	C	16: 59,315,357	T17A	probably damaging	Het
Olfr605	T	A	7: 103,442,635	I163F	possibly damaging	Het
Papss1	G	T	3: 131,607,331	V369F	probably damaging	Het
Pcdhac2	T	A	18: 37,145,769	Y601N	probably damaging	Het
Pde7a	C	T	3: 19,310,931	R24Q	probably damaging	Het
Phf21a	A	G	2: 92,356,952	D445G	probably damaging	Het
Plekho1	T	A	3: 95,995,652	N15I	possibly damaging	Het
Pprc1	T	C	19: 46,069,195		probably benign	Het
Ralgapa1	A	T	12: 55,677,276		probably null	Het
Rrp12	T	C	19: 41,873,042	E942G	probably benign	Het
Skor1	T	C	9: 63,144,548	D685G	probably benign	Het
Smim23	A	T	11: 32,824,510	I3N	possibly damaging	Het
Spata7	A	T	12: 98,664,277	I333F	probably damaging	Het
Sppl2c	T	C	11: 104,188,315	I647T	probably benign	Het
Srgap1	C	A	10: 121,792,487	R837L	probably benign	Het
Stpg2	C	A	3: 139,309,229	P385H	probably damaging	Het
Tmem238	C	A	7: 4,789,017	E19*	probably null	Het
Top2b	A	T	14: 16,387,331	K140*	probably null	Het
Trp53	T	A	11: 69,588,422	L142*	probably null	Het
Tyro3	A	T	2: 119,803,270	D133V	probably damaging	Het
Virma	T	A	4: 11,528,636	I1291N	probably damaging	Het
Vmn1r213	A	G	13: 23,011,337		probably benign	Het
Zbtb10	T	C	3: 9,264,550	S323P	possibly damaging	Het
Zfp521	A	T	18: 13,845,603	N584K	probably damaging	Het
Zfp944	A	G	17: 22,339,199	C356R	probably damaging	Het

Other mutations in 1700122O11Rik

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02830:1700122O11Rik	APN	17	48037426	missense	possibly damaging	0.46
IGL02927:1700122O11Rik	APN	17	48036920	nonsense	probably null
R2013:1700122O11Rik	UTSW	17	48036914	missense	possibly damaging	0.53
R2014:1700122O11Rik	UTSW	17	48036914	missense	possibly damaging	0.53
R5194:1700122O11Rik	UTSW	17	48037250	missense	probably benign
R6352:1700122O11Rik	UTSW	17	48037136	missense	probably benign	0.08
R6512:1700122O11Rik	UTSW	17	48036863	missense	possibly damaging	0.83
R7546:1700122O11Rik	UTSW	17	48037521	missense	probably benign
R8429:1700122O11Rik	UTSW	17	48037066	nonsense	probably null
R9089:1700122O11Rik	UTSW	17	48037142	nonsense	probably null
R9165:1700122O11Rik	UTSW	17	48037548	missense	probably benign	0.05
R9377:1700122O11Rik	UTSW	17	48037464	missense	probably benign
R9442:1700122O11Rik	UTSW	17	48036771	missense	possibly damaging	0.82

Predicted Primers

PCR Primer
(F):5'- CTCCGATGGCTACCATTACC -3'
(R):5'- AGACATGATGGCTCCTTTGG -3'

Sequencing Primer
(F):5'- GCCTTACTAAGCCATAGTGGG -3'
(R):5'- GACTTATGGCTCACAAGGATGATGTC -3'

Posted On

2015-10-21