Mutagenetix > Incidental Mutation

Incidental Mutation 'R5196:1700001O22Rik'

400214

Institutional Source

Beutler Lab

Gene Symbol

1700001O22Rik

Ensembl Gene

ENSMUSG00000044320

Gene Name

RIKEN cDNA 1700001O22 gene

Synonyms

MMRRC Submission

042772-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R5196 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

30794769-30803661 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 30796438 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Alanine at position 281 (T281A)

Ref Sequence

ENSEMBL: ENSMUSP00000058055 (fasta)

Gene Model

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

AlphaFold

A2APZ1

Predicted Effect

possibly damaging
Transcript: ENSMUST00000050003
AA Change: T281A

PolyPhen 2 Score 0.699 (Sensitivity: 0.86; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000058055
Gene: ENSMUSG00000044320
AA Change: T281A

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: ENSMUST00000135556

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000136883

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000138959

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000139968

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000150205

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000140168

Meta Mutation Damage Score

0.0966

Coding Region Coverage

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

Validation Efficiency

100% (62/62)

Allele List at MGI

Other mutations in this stock

Total: 52 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930503B20Rik	A	G	3: 146,646,263		probably benign	Het
6330409D20Rik	T	A	2: 32,740,540		probably benign	Het
Afg3l2	G	T	18: 67,421,259	L458M	probably damaging	Het
Amigo2	A	G	15: 97,246,061	F160S	probably damaging	Het
Arcn1	A	T	9: 44,760,027	L68M	probably damaging	Het
Arhgef25	A	G	10: 127,185,109	S303P	probably damaging	Het
Asph	A	T	4: 9,607,830	S163T	probably damaging	Het
BC003331	T	A	1: 150,382,389	D165V	probably damaging	Het
Birc6	T	C	17: 74,606,141		probably benign	Het
Ccm2	G	A	11: 6,561,181		probably benign	Het
Cdc42bpa	T	C	1: 180,072,413	V431A	probably benign	Het
Cdh7	T	A	1: 110,138,000	M668K	probably damaging	Het
Cfap43	A	T	19: 47,825,925	W157R	probably damaging	Het
Chrm5	T	C	2: 112,480,384	Y129C	probably damaging	Het
Chrna5	A	G	9: 55,006,519	I421V	possibly damaging	Het
Clk1	T	A	1: 58,414,613	T301S	probably benign	Het
Col6a3	G	T	1: 90,816,538		probably null	Het
Eml2	G	A	7: 19,201,163	V432I	probably damaging	Het
Fam198a	T	G	9: 121,965,661	S294A	probably benign	Het
Fbxw19	T	C	9: 109,484,428	Y234C	probably benign	Het
Fgd4	T	A	16: 16,484,142	N183I	probably benign	Het
Fnip2	T	C	3: 79,572,538		probably benign	Het
Gm9847	T	A	12: 14,495,015		noncoding transcript	Het
H2-T23	A	G	17: 36,032,607		probably null	Het
Hdlbp	T	C	1: 93,420,193	E613G	probably damaging	Het
Kat6a	G	A	8: 22,911,713	R366H	probably damaging	Het
Kctd4	A	G	14: 75,962,687	T33A	probably benign	Het
Klrb1c	T	A	6: 128,780,299	S268C	probably benign	Het
Lgr6	C	T	1: 134,994,010	A199T	probably damaging	Het
Lrrfip1	A	G	1: 91,114,608	E245G	probably damaging	Het
Mast3	A	T	8: 70,788,245	I220N	probably damaging	Het
Mfap3	A	G	11: 57,529,813	T207A	probably damaging	Het
Mtdh	G	T	15: 34,118,004	K75N	probably damaging	Het
Mybpc1	A	G	10: 88,536,351	Y806H	probably damaging	Het
Ntng1	T	C	3: 109,934,983	D158G	probably damaging	Het
Olfr1176	A	G	2: 88,339,748	Y61C	possibly damaging	Het
Olfr812	T	A	10: 129,842,781	D87V	possibly damaging	Het
Pask	A	G	1: 93,310,083		probably benign	Het
Pif1	G	T	9: 65,588,092	A95S	probably benign	Het
Plppr2	T	C	9: 21,941,132	F104S	probably damaging	Het
Prmt9	G	A	8: 77,564,997	V333M	probably benign	Het
Pten	A	T	19: 32,815,497	M239L	probably benign	Het
Rb1cc1	A	G	1: 6,234,230	D67G	probably damaging	Het
Reg2	T	A	6: 78,405,547	L12*	probably null	Het
Rufy4	T	C	1: 74,147,663	C537R	probably damaging	Het
Slc5a7	C	A	17: 54,281,722		probably null	Het
Tcaf3	G	T	6: 42,593,715	R368S	probably benign	Het
Tfcp2	A	G	15: 100,520,714	V189A	probably damaging	Het
Uhrf1bp1	A	G	17: 27,856,763	I5V	probably benign	Het
Wdr12	T	C	1: 60,087,084	S191G	probably damaging	Het
Zfp536	G	A	7: 37,480,760	R807W	probably damaging	Het
Zfp647	G	A	15: 76,912,085	P125L	probably damaging	Het

Other mutations in 1700001O22Rik

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01107:1700001O22Rik	APN	2	30797936	missense	probably damaging	0.97
IGL02627:1700001O22Rik	APN	2	30795765	missense	probably damaging	1.00
R1236:1700001O22Rik	UTSW	2	30795744	missense	probably damaging	1.00
R1879:1700001O22Rik	UTSW	2	30796476	missense	possibly damaging	0.73
R1971:1700001O22Rik	UTSW	2	30796554	missense	probably benign	0.35
R2082:1700001O22Rik	UTSW	2	30796379	splice site	probably null
R2107:1700001O22Rik	UTSW	2	30795732	missense	probably damaging	1.00
R5821:1700001O22Rik	UTSW	2	30796446	missense	possibly damaging	0.61
R6282:1700001O22Rik	UTSW	2	30800769	missense	possibly damaging	0.82
R7192:1700001O22Rik	UTSW	2	30796176	missense	probably damaging	0.99
R7644:1700001O22Rik	UTSW	2	30797954	missense	possibly damaging	0.92
R8266:1700001O22Rik	UTSW	2	30801242	missense	possibly damaging	0.67
R9696:1700001O22Rik	UTSW	2	30801244	missense	possibly damaging	0.51

Predicted Primers

PCR Primer
(F):5'- GTTCCTGAGCTGACCTGATG -3'
(R):5'- AACCCAGGACTTCTCTGGAG -3'

Sequencing Primer
(F):5'- CTGAGCTGACCTGATGGGGAG -3'
(R):5'- AGGACTTCTCTGGAGGCAAC -3'

Posted On

2016-07-06