Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02814:2700081O15Rik'

360717

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

2700081O15Rik

Ensembl Gene

ENSMUSG00000053080

Gene Name

RIKEN cDNA 2700081O15 gene

Synonyms

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.063) question?

Stock #

IGL02814

Quality Score

Status

Chromosome

Chromosomal Location

7417625-7425904 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

C to A at 7420422 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Lysine at position 111 (N111K)

Ref Sequence

ENSEMBL: ENSMUSP00000139847 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000159348] [ENSMUST00000161907]

AlphaFold

no structure available at present

Predicted Effect

unknown
Transcript: ENSMUST00000159346
AA Change: N1K

SMART Domains

Protein: ENSMUSP00000124442
Gene: ENSMUSG00000053080
AA Change: N1K

Domain	Start	End	E-Value	Type
coiled coil region	14	41	N/A	INTRINSIC
low complexity region	42	67	N/A	INTRINSIC
low complexity region	72	97	N/A	INTRINSIC
low complexity region	178	215	N/A	INTRINSIC
ZnF_C2H2	231	256	2.06e1	SMART

Predicted Effect

unknown
Transcript: ENSMUST00000159348
AA Change: N165K

SMART Domains

Protein: ENSMUSP00000123773
Gene: ENSMUSG00000053080
AA Change: N165K

Domain	Start	End	E-Value	Type
low complexity region	3	20	N/A	INTRINSIC
low complexity region	46	58	N/A	INTRINSIC
low complexity region	66	78	N/A	INTRINSIC
low complexity region	99	108	N/A	INTRINSIC
ZnF_C2H2	124	149	3.38e1	SMART
low complexity region	171	201	N/A	INTRINSIC
low complexity region	205	230	N/A	INTRINSIC
low complexity region	235	260	N/A	INTRINSIC
ZnF_C2H2	283	308	1.06e2	SMART
low complexity region	382	419	N/A	INTRINSIC
ZnF_C2H2	435	460	2.06e1	SMART
low complexity region	491	522	N/A	INTRINSIC
low complexity region	540	547	N/A	INTRINSIC
low complexity region	557	572	N/A	INTRINSIC
ZnF_C2H2	600	625	2.54e1	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000160561

SMART Domains

Protein: ENSMUSP00000124645
Gene: ENSMUSG00000053080

Domain	Start	End	E-Value	Type
ZnF_C2H2	10	35	1.06e2	SMART
low complexity region	109	146	N/A	INTRINSIC
ZnF_C2H2	162	187	2.06e1	SMART
low complexity region	218	249	N/A	INTRINSIC
low complexity region	267	274	N/A	INTRINSIC
low complexity region	284	299	N/A	INTRINSIC
ZnF_C2H2	327	352	2.54e1	SMART

Predicted Effect

possibly damaging
Transcript: ENSMUST00000161907
AA Change: N111K

PolyPhen 2 Score 0.935 (Sensitivity: 0.80; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000139847
Gene: ENSMUSG00000053080
AA Change: N111K

Domain	Start	End	E-Value	Type
low complexity region	12	24	N/A	INTRINSIC
low complexity region	45	54	N/A	INTRINSIC
ZnF_C2H2	70	95	1.4e-1	SMART
coiled coil region	124	151	N/A	INTRINSIC
low complexity region	173	180	N/A	INTRINSIC
low complexity region	190	205	N/A	INTRINSIC
ZnF_C2H2	233	258	1.1e-1	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000183837

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000189779

Predicted Effect

unknown
Transcript: ENSMUST00000191580
AA Change: N4K

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 61 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca9	A	T	11: 110,154,467	F347I	possibly damaging	Het
Adcy5	A	G	16: 35,303,649	T1233A	probably benign	Het
Blnk	C	T	19: 40,962,429	D93N	probably damaging	Het
Cadps2	T	C	6: 23,321,707	E1083G	probably damaging	Het
Capn8	C	A	1: 182,598,771	L224M	probably damaging	Het
Cdh4	A	T	2: 179,780,474	E130D	probably benign	Het
Cgn	G	A	3: 94,774,240	T515M	probably benign	Het
Chrna10	C	T	7: 102,112,262	G374D	probably benign	Het
Chrnb1	T	A	11: 69,795,680	Y38F	probably damaging	Het
Cyld	A	G	8: 88,744,897	D621G	probably benign	Het
Cyp4f37	T	C	17: 32,634,671	F443S	probably benign	Het
Dctn1	C	A	6: 83,189,914	A152E	probably damaging	Het
Eml4	T	A	17: 83,441,362	Y228*	probably null	Het
Fbln2	T	A	6: 91,265,857	C846*	probably null	Het
Fut2	C	T	7: 45,650,769	G193E	possibly damaging	Het
Gart	T	C	16: 91,623,457	S833G	possibly damaging	Het
Gda	T	C	19: 21,428,475		probably null	Het
Gjb5	C	T	4: 127,355,562	R263Q	probably benign	Het
Gtf2i	T	C	5: 134,286,704	K193E	probably damaging	Het
Hist2h4	C	A	3: 96,263,287	K6N	probably benign	Het
Ints1	C	T	5: 139,772,391	E244K	possibly damaging	Het
Kat14	G	A	2: 144,402,463	S412N	probably benign	Het
Kcnn3	A	T	3: 89,521,175	H236L	possibly damaging	Het
Kif15	T	A	9: 123,003,640	I1005K	possibly damaging	Het
Klrc1	T	C	6: 129,678,892	T7A	possibly damaging	Het
Lcp2	T	C	11: 34,071,033	S130P	probably damaging	Het
Ldha	T	A	7: 46,850,891	Y133*	probably null	Het
Lrp2	A	G	2: 69,506,736	C1231R	probably damaging	Het
Lrrn1	T	A	6: 107,567,352	V37D	probably damaging	Het
Mep1a	T	A	17: 43,477,221	H648L	probably benign	Het
Mmp25	C	T	17: 23,639,762	G272R	probably damaging	Het
Myh15	A	G	16: 49,145,438		probably benign	Het
Myl3	G	T	9: 110,767,991	E140*	probably null	Het
Nlrp4f	A	G	13: 65,185,042	S809P	probably damaging	Het
Nrde2	T	C	12: 100,144,135	I207M	probably null	Het
Olfr1373	C	T	11: 52,144,810	C240Y	probably damaging	Het
Olfr474	T	C	7: 107,954,770	I43T	probably benign	Het
Olfr541	T	C	7: 140,705,133	L294P	probably damaging	Het
Paics	T	G	5: 76,962,473	V245G	probably damaging	Het
Pank1	A	G	19: 34,840,855	F95L	probably damaging	Het
Pde4dip	A	C	3: 97,767,100	C167G	probably damaging	Het
Picalm	C	A	7: 90,191,749	T542K	possibly damaging	Het
Piezo1	A	G	8: 122,498,215	Y651H	probably damaging	Het
Pikfyve	T	A	1: 65,250,194	C1208*	probably null	Het
Pkd1l1	T	A	11: 8,902,582	T634S	probably benign	Het
Rab32	T	C	10: 10,546,427	T183A	probably benign	Het
Rad18	T	C	6: 112,644,622	I206V	possibly damaging	Het
Rbm15b	T	C	9: 106,885,776	I398V	probably benign	Het
Rbm28	T	C	6: 29,159,726	E101G	probably benign	Het
Rsf1	T	C	7: 97,661,227	L388P	probably damaging	Het
Scnn1g	A	G	7: 121,740,365	Y129C	probably damaging	Het
Slc7a13	G	A	4: 19,839,387	C330Y	probably benign	Het
Spock1	A	T	13: 57,587,673	V101E	probably damaging	Het
Sympk	T	A	7: 19,053,273	W1029R	probably damaging	Het
Syne2	T	A	12: 75,945,376	H2008Q	possibly damaging	Het
Tgs1	T	A	4: 3,585,719	Y199N	probably damaging	Het
Trim10	T	A	17: 36,877,336	C481*	probably null	Het
Vmn2r102	A	G	17: 19,677,908	E395G	probably damaging	Het
Wfs1	A	C	5: 36,967,669	V626G	possibly damaging	Het
Zfp689	A	G	7: 127,445,021	S146P	possibly damaging	Het
Zfp786	T	C	6: 47,819,841	H721R	probably damaging	Het

Other mutations in 2700081O15Rik

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02376:2700081O15Rik	APN	19	7422376	missense	probably damaging	1.00
H8562:2700081O15Rik	UTSW	19	7422921	missense	probably benign	0.01
R0034:2700081O15Rik	UTSW	19	7420359	missense	probably damaging	1.00
R0583:2700081O15Rik	UTSW	19	7420274	missense	probably damaging	1.00
R2351:2700081O15Rik	UTSW	19	7422244	missense	probably damaging	1.00
R4326:2700081O15Rik	UTSW	19	7421226	intron	probably benign
R4329:2700081O15Rik	UTSW	19	7421226	intron	probably benign
R5474:2700081O15Rik	UTSW	19	7420159	missense	probably damaging	1.00
R5735:2700081O15Rik	UTSW	19	7422796	missense	probably benign
R6168:2700081O15Rik	UTSW	19	7422940	missense	probably benign	0.40
R6739:2700081O15Rik	UTSW	19	7421347	nonsense	probably null
R7780:2700081O15Rik	UTSW	19	7422372	missense	probably damaging	0.96
R7855:2700081O15Rik	UTSW	19	7422256	missense	probably damaging	1.00
R8550:2700081O15Rik	UTSW	19	7422955	missense	probably benign	0.00
R9423:2700081O15Rik	UTSW	19	7420259	missense	probably damaging	1.00
R9429:2700081O15Rik	UTSW	19	7422229	missense	probably damaging	1.00
Z1176:2700081O15Rik	UTSW	19	7422747	missense	unknown

Posted On

2015-12-18