Mutagenetix > Incidental Mutation

Incidental Mutation 'R1236:1700001O22Rik'

152416

Institutional Source

Beutler Lab

Gene Symbol

1700001O22Rik

Ensembl Gene

ENSMUSG00000044320

Gene Name

RIKEN cDNA 1700001O22 gene

Synonyms

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R1236 (G1)

Quality Score

218

Status

Not validated

Chromosome

Chromosomal Location

30794769-30803661 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 30795744 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Cysteine at position 360 (Y360C)

Ref Sequence

ENSEMBL: ENSMUSP00000058055 (fasta)

Gene Model

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

AlphaFold

A2APZ1

Predicted Effect

probably damaging
Transcript: ENSMUST00000050003
AA Change: Y360C

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000058055
Gene: ENSMUSG00000044320
AA Change: Y360C

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: ENSMUST00000140168

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000150205

Coding Region Coverage

1x: 99.1%
3x: 98.3%
10x: 96.3%
20x: 92.8%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 29 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Afap1l2	T	A	19: 56,916,472	H566L	possibly damaging	Het
Aqr	G	T	2: 114,116,655	F1015L	probably damaging	Het
Atp5s	T	C	12: 69,741,818		probably null	Het
Cep112	T	A	11: 108,859,374	L901H	probably damaging	Het
Col26a1	A	G	5: 136,754,926	V229A	probably benign	Het
Cyp4a14	T	C	4: 115,492,170	N231S	probably benign	Het
G530012D18Rik	CAGAGAGA	CAGAGAGAGA	1: 85,577,224		probably null	Het
Gm37240	T	A	3: 84,527,696	N13I	probably benign	Het
Kbtbd7	G	T	14: 79,427,832	C368F	probably benign	Het
Kyat3	A	G	3: 142,738,259	D418G	probably benign	Het
Lpcat2	A	G	8: 92,886,569	M246V	probably damaging	Het
Nbas	T	A	12: 13,269,241	W31R	probably damaging	Het
Nckap1	C	T	2: 80,517,942	S889N	probably benign	Het
Npepl1	T	A	2: 174,114,480		probably null	Het
Olfr805	A	G	10: 129,722,806	V246A	probably damaging	Het
Olfr906	T	C	9: 38,488,229	S67P	probably damaging	Het
P4ha3	T	C	7: 100,293,849	L147P	probably damaging	Het
Pkp2	C	A	16: 16,225,902	H173Q	probably benign	Het
Prlr	C	A	15: 10,325,281	T180K	probably benign	Het
Psph	A	G	5: 129,771,476	M47T	probably damaging	Het
Rufy2	A	G	10: 62,994,770	N217S	probably benign	Het
Sgcg	T	C	14: 61,245,770	M61V	probably damaging	Het
Snrnp40	C	G	4: 130,378,043		probably null	Het
Spint1	A	G	2: 119,245,573	T217A	probably benign	Het
Tert	T	C	13: 73,636,379	L648P	probably damaging	Het
Vwde	A	T	6: 13,187,153	Y778*	probably null	Het
Zeb2	T	A	2: 44,994,646	D967V	probably damaging	Het
Zfp687	T	C	3: 95,012,044	N139S	probably benign	Het
Zscan26	T	C	13: 21,445,770	M188V	probably benign	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
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
R5196:1700001O22Rik	UTSW	2	30796438	missense	possibly damaging	0.70
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'- CAGGCACCTAGAGTGGCTTTTACTG -3'
(R):5'- GGACACCCCTAACAATGTGGATCAG -3'

Sequencing Primer
(F):5'- ACTGGGAGACCTAGTGATCCATC -3'
(R):5'- CTTGAGCCAGGCTAGTGAG -3'

Posted On

2014-01-29