Mutagenetix > Incidental Mutation

Incidental Mutation 'R6352:1700122O11Rik'

513308

Institutional Source

Beutler Lab

Gene Symbol

1700122O11Rik

Ensembl Gene

ENSMUSG00000094928

Gene Name

RIKEN cDNA 1700122O11 gene

Synonyms

MMRRC Submission

044504-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.055) question?

Stock #

R6352 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

48347554-48349102 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 48347945 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Glycine at position 120 (S120G)

Ref Sequence

ENSEMBL: ENSMUSP00000137519 (fasta)

Gene Model

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

AlphaFold

J3QPW6

Predicted Effect

probably benign
Transcript: ENSMUST00000178823
AA Change: S120G

PolyPhen 2 Score 0.084 (Sensitivity: 0.93; Specificity: 0.85)

SMART Domains

Protein: ENSMUSP00000137519
Gene: ENSMUSG00000094928
AA Change: S120G

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

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 99.9%
3x: 99.6%
10x: 98.3%
20x: 95.2%

Validation Efficiency

96% (48/50)

Allele List at MGI

Other mutations in this stock

Total: 49 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca13	G	A	11: 9,259,139 (GRCm39)		probably null	Het
Aco1	G	A	4: 40,186,367 (GRCm39)	R593Q	probably benign	Het
Adgra3	T	A	5: 50,136,478 (GRCm39)	D669V	probably benign	Het
Adgra3	T	A	5: 50,147,592 (GRCm39)	M483L	probably benign	Het
Ccdc42	T	C	11: 68,485,191 (GRCm39)	V88A	probably damaging	Het
Cdh16	G	C	8: 105,343,624 (GRCm39)	S624C	probably damaging	Het
Cpt1c	A	T	7: 44,616,219 (GRCm39)		probably null	Het
Cul9	T	C	17: 46,822,241 (GRCm39)	T1795A	probably benign	Het
Dnah2	C	T	11: 69,339,053 (GRCm39)	V3098I	probably damaging	Het
Fbxl16	T	C	17: 26,037,919 (GRCm39)	L426P	probably damaging	Het
Flt4	T	C	11: 49,534,333 (GRCm39)	I1168T	probably benign	Het
Fmo5	T	C	3: 97,552,991 (GRCm39)	V313A	probably benign	Het
Foxj3	A	G	4: 119,442,975 (GRCm39)	N133S	probably damaging	Het
Gbp8	T	C	5: 105,162,926 (GRCm39)	I489M	possibly damaging	Het
Gm10801	TC	TCGAC	2: 98,494,151 (GRCm39)		probably benign	Het
Hdgfl1	T	G	13: 26,953,733 (GRCm39)	E113D	probably benign	Het
Heatr5a	A	T	12: 51,997,949 (GRCm39)	S317T	possibly damaging	Het
Hycc2	A	G	1: 58,596,471 (GRCm39)	V38A	probably damaging	Het
Insr	C	T	8: 3,223,479 (GRCm39)		probably null	Het
Iqcf5	A	G	9: 106,392,929 (GRCm39)	E62G	possibly damaging	Het
Kcnj3	G	A	2: 55,327,561 (GRCm39)	V117I	probably benign	Het
Klf9	T	A	19: 23,119,138 (GRCm39)	M7K	probably benign	Het
Mboat1	G	A	13: 30,386,403 (GRCm39)	G139E	possibly damaging	Het
Mical3	T	C	6: 120,929,434 (GRCm39)	T1811A	probably damaging	Het
Mllt10	A	C	2: 18,128,604 (GRCm39)	K117T	probably damaging	Het
Mpped1	A	G	15: 83,720,564 (GRCm39)	D8G	probably damaging	Het
Myh4	A	T	11: 67,143,108 (GRCm39)	D1012V	probably damaging	Het
Myo9b	C	A	8: 71,801,054 (GRCm39)	P1070T	probably benign	Het
Myo9b	C	T	8: 71,801,055 (GRCm39)	P1071L	probably benign	Het
Nlrp1b	T	A	11: 71,072,527 (GRCm39)	I439F	probably damaging	Het
Nlrp9a	T	A	7: 26,257,051 (GRCm39)	I134N	probably damaging	Het
Nop2	C	T	6: 125,114,170 (GRCm39)	T212M	probably benign	Het
Notch4	T	C	17: 34,786,435 (GRCm39)	C188R	probably damaging	Het
Or10q12	A	T	19: 13,745,828 (GRCm39)	M41L	probably benign	Het
Or2ag19	G	T	7: 106,444,429 (GRCm39)	V204F	probably damaging	Het
Pgd	C	T	4: 149,245,209 (GRCm39)		probably null	Het
Plet1	T	C	9: 50,412,407 (GRCm39)	S142P	probably damaging	Het
Ptk7	A	T	17: 46,887,816 (GRCm39)	W539R	probably benign	Het
Ptprd	A	T	4: 76,009,789 (GRCm39)		probably null	Het
Rgs22	T	G	15: 36,093,067 (GRCm39)	Q402P	probably damaging	Het
Rpl10a	T	C	17: 28,549,820 (GRCm39)	V167A	possibly damaging	Het
Sdr16c5	A	G	4: 4,016,421 (GRCm39)	S2P	probably benign	Het
Slc14a2	T	C	18: 78,252,309 (GRCm39)	M1V	probably null	Het
Spta1	T	A	1: 174,039,212 (GRCm39)	M1185K	possibly damaging	Het
Syde2	G	T	3: 145,704,229 (GRCm39)	E127*	probably null	Het
Thoc2l	A	G	5: 104,668,064 (GRCm39)	E862G	probably benign	Het
Ugt2b38	T	A	5: 87,571,860 (GRCm39)	R57S	possibly damaging	Het
Wdr11	C	T	7: 129,208,399 (GRCm39)	L385F	possibly damaging	Het
Wdr74	T	C	19: 8,716,822 (GRCm39)	V200A	possibly damaging	Het

Other mutations in 1700122O11Rik

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02830:1700122O11Rik	APN	17	48,348,235 (GRCm39)	missense	possibly damaging	0.46
IGL02927:1700122O11Rik	APN	17	48,347,729 (GRCm39)	nonsense	probably null
R2013:1700122O11Rik	UTSW	17	48,347,723 (GRCm39)	missense	possibly damaging	0.53
R2014:1700122O11Rik	UTSW	17	48,347,723 (GRCm39)	missense	possibly damaging	0.53
R4698:1700122O11Rik	UTSW	17	48,349,049 (GRCm39)	missense	possibly damaging	0.46
R5194:1700122O11Rik	UTSW	17	48,348,059 (GRCm39)	missense	probably benign
R6512:1700122O11Rik	UTSW	17	48,347,672 (GRCm39)	missense	possibly damaging	0.83
R7546:1700122O11Rik	UTSW	17	48,348,330 (GRCm39)	missense	probably benign
R8429:1700122O11Rik	UTSW	17	48,347,875 (GRCm39)	nonsense	probably null
R9089:1700122O11Rik	UTSW	17	48,347,951 (GRCm39)	nonsense	probably null
R9165:1700122O11Rik	UTSW	17	48,348,357 (GRCm39)	missense	probably benign	0.05
R9377:1700122O11Rik	UTSW	17	48,348,273 (GRCm39)	missense	probably benign
R9442:1700122O11Rik	UTSW	17	48,347,580 (GRCm39)	missense	possibly damaging	0.82

Predicted Primers

PCR Primer
(F):5'- CCCTGTCTTGGGCATAGTAG -3'
(R):5'- GCCTCACTCTATGACCATATCGG -3'

Sequencing Primer
(F):5'- CCTGTCTTGGGCATAGTAGATCTC -3'
(R):5'- ATATCGGTCCGCTGCCC -3'

Posted On

2018-04-27