Mutagenetix > Incidental Mutation

Incidental Mutation 'R6282:1700001O22Rik'

507984

Institutional Source

Beutler Lab

Gene Symbol

1700001O22Rik

Ensembl Gene

ENSMUSG00000044320

Gene Name

RIKEN cDNA 1700001O22 gene

Synonyms

MMRRC Submission

044452-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R6282 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

30684781-30693673 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 30690781 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Glutamine at position 185 (L185Q)

Ref Sequence

ENSEMBL: ENSMUSP00000058055 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000050003]

AlphaFold

A2APZ1

Predicted Effect

possibly damaging
Transcript: ENSMUST00000050003
AA Change: L185Q

PolyPhen 2 Score 0.824 (Sensitivity: 0.84; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000058055
Gene: ENSMUSG00000044320
AA Change: L185Q

Domain	Start	End	E-Value	Type
low complexity region	79	89	N/A	INTRINSIC
low complexity region	130	144	N/A	INTRINSIC
Pfam:DUF4685	164	245	2.7e-20	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000126898

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000129484

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000130396

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000131315

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000131937

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000133380

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000150205

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000138959

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000135700

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000139968

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000140168

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000135556

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000136883

Meta Mutation Damage Score

0.1852

Coding Region Coverage

1x: 99.9%
3x: 99.7%
10x: 98.6%
20x: 96.3%

Validation Efficiency

98% (45/46)

Allele List at MGI

Other mutations in this stock

Total: 45 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca6	A	T	11: 110,099,650 (GRCm39)	C966S	probably damaging	Het
Atp13a4	A	T	16: 29,252,822 (GRCm39)	I708N	probably benign	Het
Axin1	C	G	17: 26,362,011 (GRCm39)	D118E	probably damaging	Het
Bace2	A	T	16: 97,216,297 (GRCm39)	I297F	probably damaging	Het
Ccdc30	T	A	4: 119,181,214 (GRCm39)	D649V	probably damaging	Het
Cd180	G	A	13: 102,830,265 (GRCm39)	A20T	possibly damaging	Het
Cdk18	T	C	1: 132,047,758 (GRCm39)	D112G	probably damaging	Het
Cuedc1	A	G	11: 88,074,228 (GRCm39)	N254S	probably damaging	Het
Dnah7a	T	C	1: 53,542,760 (GRCm39)	H2470R	probably damaging	Het
Drap1	G	A	19: 5,474,464 (GRCm39)		probably null	Het
Fbxo5	T	A	10: 5,751,216 (GRCm39)	K257M	probably damaging	Het
Gm11595	G	A	11: 99,663,381 (GRCm39)	R100C	unknown	Het
Gm12790	A	G	4: 101,824,713 (GRCm39)	V185A	possibly damaging	Het
Gm7361	A	G	5: 26,465,411 (GRCm39)	N136S	probably benign	Het
Il10ra	C	A	9: 45,171,703 (GRCm39)	C255F	probably damaging	Het
Insyn2b	A	G	11: 34,352,819 (GRCm39)	D287G	possibly damaging	Het
Itgam	A	T	7: 127,684,114 (GRCm39)	T340S	probably benign	Het
Ktn1	A	T	14: 47,901,428 (GRCm39)	N62I	probably damaging	Het
Ldb2	A	G	5: 44,690,007 (GRCm39)	L204P	probably damaging	Het
Map2k4	T	C	11: 65,597,842 (GRCm39)	T90A	possibly damaging	Het
Mettl3	A	T	14: 52,535,428 (GRCm39)	D287E	probably benign	Het
Mier2	A	G	10: 79,380,576 (GRCm39)	F278S	probably damaging	Het
Mis18bp1	A	G	12: 65,195,937 (GRCm39)	M609T	probably benign	Het
Myo1d	A	T	11: 80,448,338 (GRCm39)	V929D	probably damaging	Het
Naprt	A	T	15: 75,763,828 (GRCm39)	M364K	probably benign	Het
Nod2	T	A	8: 89,397,088 (GRCm39)	C833S	probably benign	Het
Nrip3	C	T	7: 109,362,686 (GRCm39)		probably null	Het
Ntsr2	A	G	12: 16,708,426 (GRCm39)	Y320C	probably damaging	Het
Or14j8	G	A	17: 38,263,315 (GRCm39)	S200F	possibly damaging	Het
Or4p7	C	A	2: 88,221,877 (GRCm39)	C95*	probably null	Het
Or51h1	G	A	7: 102,308,854 (GRCm39)	M275I	probably benign	Het
Osbpl3	A	T	6: 50,325,063 (GRCm39)		probably null	Het
Pcdhb3	C	T	18: 37,434,699 (GRCm39)	R222C	probably damaging	Het
Pik3cd	G	T	4: 149,744,200 (GRCm39)	R184S	probably benign	Het
Pramel32	T	C	4: 88,548,291 (GRCm39)	E38G	probably damaging	Het
Rad50	A	T	11: 53,560,597 (GRCm39)		probably null	Het
Rad51ap2	A	T	12: 11,507,560 (GRCm39)	H494L	probably benign	Het
Rbm25	T	C	12: 83,722,863 (GRCm39)	M762T	probably damaging	Het
Sars1	G	T	3: 108,335,590 (GRCm39)	S338*	probably null	Het
Usp35	T	C	7: 96,975,155 (GRCm39)	E6G	probably damaging	Het
Vash2	T	C	1: 190,692,422 (GRCm39)	Y251C	probably benign	Het
Vmn2r111	T	C	17: 22,778,032 (GRCm39)	N549S	possibly damaging	Het
Wdr20	T	A	12: 110,763,443 (GRCm39)		probably benign	Het
Wfdc1	G	A	8: 120,406,146 (GRCm39)	C87Y	probably damaging	Het
Zfp985	T	A	4: 147,667,805 (GRCm39)	H224Q	probably benign	Het

Other mutations in 1700001O22Rik

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01107:1700001O22Rik	APN	2	30,687,948 (GRCm39)	missense	probably damaging	0.97
IGL02627:1700001O22Rik	APN	2	30,685,777 (GRCm39)	missense	probably damaging	1.00
R1236:1700001O22Rik	UTSW	2	30,685,756 (GRCm39)	missense	probably damaging	1.00
R1879:1700001O22Rik	UTSW	2	30,686,488 (GRCm39)	missense	possibly damaging	0.73
R1971:1700001O22Rik	UTSW	2	30,686,566 (GRCm39)	missense	probably benign	0.35
R2082:1700001O22Rik	UTSW	2	30,686,391 (GRCm39)	splice site	probably null
R2107:1700001O22Rik	UTSW	2	30,685,744 (GRCm39)	missense	probably damaging	1.00
R5196:1700001O22Rik	UTSW	2	30,686,450 (GRCm39)	missense	possibly damaging	0.70
R5821:1700001O22Rik	UTSW	2	30,686,458 (GRCm39)	missense	possibly damaging	0.61
R7192:1700001O22Rik	UTSW	2	30,686,188 (GRCm39)	missense	probably damaging	0.99
R7644:1700001O22Rik	UTSW	2	30,687,966 (GRCm39)	missense	possibly damaging	0.92
R8266:1700001O22Rik	UTSW	2	30,691,254 (GRCm39)	missense	possibly damaging	0.67
R9696:1700001O22Rik	UTSW	2	30,691,256 (GRCm39)	missense	possibly damaging	0.51

Predicted Primers

PCR Primer
(F):5'- GAACGAATGCCTTCCTGTTCC -3'
(R):5'- AATCACTGCCTAGCTTCTCG -3'

Sequencing Primer
(F):5'- ATTCCCAGAACTCATGGCTTGGG -3'
(R):5'- AGCTTCTCGGTCTTCCAGCTG -3'

Posted On

2018-03-15