Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL03410:1700086D15Rik'

421771

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

1700086D15Rik

Ensembl Gene

ENSMUSG00000020548

Gene Name

RIKEN cDNA 1700086D15 gene

Synonyms

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.099) question?

Stock #

IGL03410

Quality Score

Status

Chromosome

Chromosomal Location

65151910-65159891 bp(-) (GRCm38)

Type of Mutation

intron

DNA Base Change (assembly)

A to G at 65152567 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000090681 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000020855] [ENSMUST00000047463] [ENSMUST00000093001] [ENSMUST00000093002] [ENSMUST00000108696]

AlphaFold

Q9D9E9

Predicted Effect

unknown
Transcript: ENSMUST00000020855
AA Change: S129P

SMART Domains

Protein: ENSMUSP00000020855
Gene: ENSMUSG00000020548
AA Change: S129P

Domain	Start	End	E-Value	Type
signal peptide	1	23	N/A	INTRINSIC
low complexity region	106	115	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000047463

SMART Domains

Protein: ENSMUSP00000039139
Gene: ENSMUSG00000033389

Domain	Start	End	E-Value	Type
BAR	1	242	2.27e-71	SMART
RhoGAP	266	442	1.07e-66	SMART
low complexity region	530	556	N/A	INTRINSIC
low complexity region	561	575	N/A	INTRINSIC
low complexity region	592	606	N/A	INTRINSIC
low complexity region	616	631	N/A	INTRINSIC
low complexity region	664	689	N/A	INTRINSIC
low complexity region	695	707	N/A	INTRINSIC
low complexity region	716	746	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000093001

SMART Domains

Protein: ENSMUSP00000090680
Gene: ENSMUSG00000033389

Domain	Start	End	E-Value	Type
BAR	5	210	8.8e-26	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000093002

SMART Domains

Protein: ENSMUSP00000090681
Gene: ENSMUSG00000033389

Domain	Start	End	E-Value	Type
BAR	1	242	2.27e-71	SMART
RhoGAP	266	442	1.07e-66	SMART
low complexity region	536	562	N/A	INTRINSIC
low complexity region	567	581	N/A	INTRINSIC
low complexity region	598	612	N/A	INTRINSIC
low complexity region	622	637	N/A	INTRINSIC
low complexity region	670	695	N/A	INTRINSIC
low complexity region	701	713	N/A	INTRINSIC
low complexity region	722	752	N/A	INTRINSIC

Predicted Effect

unknown
Transcript: ENSMUST00000108696
AA Change: S129P

SMART Domains

Protein: ENSMUSP00000104336
Gene: ENSMUSG00000020548
AA Change: S129P

Domain	Start	End	E-Value	Type
signal peptide	1	23	N/A	INTRINSIC
low complexity region	106	115	N/A	INTRINSIC

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 52 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700010I14Rik	T	A	17: 9,001,896	V409E	probably damaging	Het
Apba1	A	G	19: 23,937,581	N715S	possibly damaging	Het
Arfgef3	G	T	10: 18,600,490	A1527D	probably damaging	Het
Cmtm2a	G	T	8: 104,283,869	P133T	probably damaging	Het
Cyp2d9	T	C	15: 82,456,699	V483A	probably benign	Het
Dclre1b	T	A	3: 103,808,140	D14V	probably damaging	Het
Dock5	T	C	14: 67,846,086	I125V	probably benign	Het
Dok3	G	T	13: 55,524,231	Y211*	probably null	Het
Fat4	T	C	3: 38,891,176	V1406A	probably damaging	Het
Fbn2	A	G	18: 58,050,243	F1790S	possibly damaging	Het
Gm13083	C	A	4: 143,615,281	H93Q	probably benign	Het
Gm4787	A	T	12: 81,379,174	M70K	probably damaging	Het
Gulp1	A	T	1: 44,708,617	D10V	probably damaging	Het
Hagh	T	C	17: 24,860,942		probably benign	Het
Htt	A	G	5: 34,799,445	E206G	probably damaging	Het
Hyou1	A	G	9: 44,388,058	E682G	probably benign	Het
Igkv4-59	G	T	6: 69,438,466	A35E	probably damaging	Het
Krt78	A	G	15: 101,953,986	V80A	probably damaging	Het
Lars2	G	A	9: 123,418,776	A333T	possibly damaging	Het
Lrrc4	G	A	6: 28,830,516	R367W	probably damaging	Het
Med1	A	T	11: 98,189,183	M44K	possibly damaging	Het
Mep1a	T	A	17: 43,478,095		probably null	Het
Mmrn1	A	G	6: 60,975,835	I367V	probably benign	Het
Myo18a	T	C	11: 77,848,004	L1677P	probably damaging	Het
Neb	T	C	2: 52,319,705	T246A	probably benign	Het
Nkiras1	A	G	14: 18,280,073	R155G	probably benign	Het
Nrip1	T	C	16: 76,292,491	N726S	probably benign	Het
Nyap2	A	G	1: 81,241,441	T393A	possibly damaging	Het
Olfr1029	T	A	2: 85,975,420	M59K	probably damaging	Het
Olfr1272	A	G	2: 90,282,213	Y121H	probably damaging	Het
Olfr32	G	A	2: 90,139,145		probably benign	Het
Oprm1	A	T	10: 6,830,051	I238F	probably damaging	Het
Pcnx2	T	A	8: 125,887,040	E557D	probably damaging	Het
Pole	A	G	5: 110,324,559	I1563V	probably benign	Het
Prdx3	T	G	19: 60,871,410		probably benign	Het
Rgsl1	C	T	1: 153,793,755	R295K	probably null	Het
Rhbdl2	T	A	4: 123,829,670	L289*	probably null	Het
Rnps1	A	G	17: 24,421,861		probably benign	Het
Rpgrip1	A	G	14: 52,158,366		probably benign	Het
Ryr2	A	T	13: 11,588,147	Y4518N	probably damaging	Het
Scyl3	A	G	1: 163,944,867	N296S	probably damaging	Het
Sipa1l3	G	A	7: 29,348,539	T1308M	probably damaging	Het
Slc39a9	A	G	12: 80,644,888	D3G	probably damaging	Het
Slc4a9	A	G	18: 36,529,687	E165G	probably benign	Het
Slc6a3	A	T	13: 73,538,657	I48F	probably benign	Het
Stxbp3	C	T	3: 108,802,160	C354Y	probably damaging	Het
Terb1	C	A	8: 104,473,042		probably benign	Het
Tfrc	G	A	16: 32,624,831		probably null	Het
Toporsl	A	C	4: 52,611,134	R342S	probably benign	Het
Ttc26	T	C	6: 38,385,500	L70P	probably damaging	Het
Ube2d3	T	A	3: 135,465,217	W141R	probably damaging	Het
Vps13b	G	T	15: 35,910,340	V3417L	probably benign	Het

Other mutations in 1700086D15Rik

Allele	Source	Chr	Coord	Type	Predicted Effect
R4824:1700086D15Rik	UTSW	11	65152615	intron	probably benign
R5381:1700086D15Rik	UTSW	11	65153311	nonsense	probably null
R5765:1700086D15Rik	UTSW	11	65153240	intron	probably benign
R6919:1700086D15Rik	UTSW	11	65152530	intron	probably benign
R7200:1700086D15Rik	UTSW	11	65153010	missense	unknown
R7526:1700086D15Rik	UTSW	11	65152981	missense	unknown
Z1186:1700086D15Rik	UTSW	11	65152968	missense	unknown
Z1186:1700086D15Rik	UTSW	11	65152983	missense	unknown
Z1186:1700086D15Rik	UTSW	11	65153254	missense	unknown
Z1186:1700086D15Rik	UTSW	11	65153288	missense	unknown
Z1186:1700086D15Rik	UTSW	11	65153302	missense	unknown
Z1187:1700086D15Rik	UTSW	11	65152968	missense	unknown
Z1187:1700086D15Rik	UTSW	11	65152983	missense	unknown
Z1187:1700086D15Rik	UTSW	11	65153254	missense	unknown
Z1187:1700086D15Rik	UTSW	11	65153288	missense	unknown
Z1187:1700086D15Rik	UTSW	11	65153302	missense	unknown
Z1188:1700086D15Rik	UTSW	11	65152968	missense	unknown
Z1188:1700086D15Rik	UTSW	11	65152983	missense	unknown
Z1188:1700086D15Rik	UTSW	11	65153254	missense	unknown
Z1188:1700086D15Rik	UTSW	11	65153288	missense	unknown
Z1188:1700086D15Rik	UTSW	11	65153302	missense	unknown
Z1189:1700086D15Rik	UTSW	11	65152968	missense	unknown
Z1189:1700086D15Rik	UTSW	11	65152983	missense	unknown
Z1189:1700086D15Rik	UTSW	11	65153254	missense	unknown
Z1189:1700086D15Rik	UTSW	11	65153288	missense	unknown
Z1189:1700086D15Rik	UTSW	11	65153302	missense	unknown
Z1190:1700086D15Rik	UTSW	11	65152968	missense	unknown
Z1190:1700086D15Rik	UTSW	11	65152983	missense	unknown
Z1190:1700086D15Rik	UTSW	11	65153254	missense	unknown
Z1190:1700086D15Rik	UTSW	11	65153288	missense	unknown
Z1190:1700086D15Rik	UTSW	11	65153302	missense	unknown
Z1191:1700086D15Rik	UTSW	11	65152968	missense	unknown
Z1191:1700086D15Rik	UTSW	11	65152983	missense	unknown
Z1191:1700086D15Rik	UTSW	11	65153254	missense	unknown
Z1191:1700086D15Rik	UTSW	11	65153288	missense	unknown
Z1191:1700086D15Rik	UTSW	11	65153302	missense	unknown
Z1192:1700086D15Rik	UTSW	11	65152968	missense	unknown
Z1192:1700086D15Rik	UTSW	11	65152983	missense	unknown
Z1192:1700086D15Rik	UTSW	11	65153254	missense	unknown
Z1192:1700086D15Rik	UTSW	11	65153288	missense	unknown
Z1192:1700086D15Rik	UTSW	11	65153302	missense	unknown

Posted On

2016-08-02