Mutagenetix > Incidental Mutations

Incidental Mutation 'IGL03136:5730522E02Rik'

410547

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

5730522E02Rik

Ensembl Gene

ENSMUSG00000032985

Gene Name

RIKEN cDNA 5730522E02 gene

Synonyms

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.109) question?

Stock #

IGL03136

Quality Score

Status

Chromosome

Chromosomal Location

25602763-26210763 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 25769122 bp

Zygosity

Heterozygous

Amino Acid Change

Leucine to Serine at position 7 (L7S)

Ref Sequence

ENSEMBL: ENSMUSP00000137096 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000109511] [ENSMUST00000179180]

Predicted Effect

unknown
Transcript: ENSMUST00000109511
AA Change: L8S

SMART Domains

Protein: ENSMUSP00000105137
Gene: ENSMUSG00000032985
AA Change: L8S

Domain	Start	End	E-Value	Type
low complexity region	90	103	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000125773

Predicted Effect

unknown
Transcript: ENSMUST00000179180
AA Change: L7S

SMART Domains

Protein: ENSMUSP00000137096
Gene: ENSMUSG00000032985
AA Change: L7S

Domain	Start	End	E-Value	Type
low complexity region	89	102	N/A	INTRINSIC

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 45 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abr	C	T	11: 76,425,295	W571*	probably null	Het
Adam18	A	T	8: 24,641,836	C420S	probably damaging	Het
Akap5	G	T	12: 76,329,875	E694*	probably null	Het
Bbs1	T	C	19: 4,890,991	K565R	probably benign	Het
Brix1	A	G	15: 10,478,766	F189S	probably damaging	Het
Cnot4	C	A	6: 35,051,241	R480L	probably damaging	Het
Ctu2	A	G	8: 122,479,201		probably benign	Het
Dhcr7	A	G	7: 143,847,366	H422R	probably damaging	Het
Dock1	A	G	7: 135,168,389	M1793V	probably benign	Het
Dock7	A	G	4: 99,003,791	F853L	probably damaging	Het
Fkbp15	G	A	4: 62,340,229		probably benign	Het
Ftsj3	C	T	11: 106,253,813	D117N	probably damaging	Het
Gphn	A	G	12: 78,481,333	I142V	possibly damaging	Het
Hsd3b1	G	A	3: 98,852,985	A230V	probably damaging	Het
Hydin	G	A	8: 110,418,524	A836T	probably benign	Het
Ift52	G	T	2: 163,025,334	E71*	probably null	Het
Ms4a14	T	C	19: 11,304,411	D261G	possibly damaging	Het
Nid1	G	A	13: 13,500,499	V935I	probably benign	Het
Nrap	T	C	19: 56,342,255	K1008E	possibly damaging	Het
Nup210	A	C	6: 91,028,861	V1340G	probably benign	Het
Olfr1442	T	A	19: 12,674,967	I254N	probably damaging	Het
Olfr169	A	T	16: 19,566,353	F177I	probably damaging	Het
Olfr974	T	C	9: 39,943,036	Y259H	probably damaging	Het
Pcdhb15	C	A	18: 37,475,014	T433N	probably damaging	Het
Pdcd6ip	T	A	9: 113,691,499	N139I	probably damaging	Het
Pgbd1	A	G	13: 21,433,439	V80A	possibly damaging	Het
Pigw	A	G	11: 84,877,777	I242T	probably benign	Het
Prtg	T	G	9: 72,856,985	V580G	possibly damaging	Het
Ptpn13	T	A	5: 103,543,463	N1065K	possibly damaging	Het
Qrich1	G	A	9: 108,544,918	R577H	probably damaging	Het
Ryr3	G	A	2: 112,675,974		probably benign	Het
Selenoi	T	C	5: 30,257,727	Y197H	probably damaging	Het
Slc47a2	A	G	11: 61,310,765	C343R	probably benign	Het
Smurf2	A	T	11: 106,831,048	D527E	probably benign	Het
Spam1	C	T	6: 24,797,011		probably benign	Het
Stkld1	T	C	2: 26,951,423	V460A	probably benign	Het
Tgoln1	G	A	6: 72,614,113	R339W	probably damaging	Het
Tprg	T	C	16: 25,412,762		probably benign	Het
Treml1	T	G	17: 48,364,851		probably benign	Het
Ttc39b	A	T	4: 83,237,280	V497E	probably damaging	Het
Vmn1r223	A	G	13: 23,249,763	T176A	possibly damaging	Het
Vmn2r75	A	T	7: 86,148,703	I634N	possibly damaging	Het
Vps13c	A	G	9: 67,950,310	E2608G	probably damaging	Het
Zfp575	A	G	7: 24,585,956	C87R	probably damaging	Het
Zfp790	T	A	7: 29,829,895	Y668*	probably null	Het

Other mutations in 5730522E02Rik

Allele	Source	Chr	Coord	Type	Predicted Effect
R0375:5730522E02Rik	UTSW	11	25769092	missense	unknown
R0828:5730522E02Rik	UTSW	11	25652020	missense	unknown
R1337:5730522E02Rik	UTSW	11	25769033	missense	unknown
R4818:5730522E02Rik	UTSW	11	25770472	critical splice donor site	probably null
R4942:5730522E02Rik	UTSW	11	25770472	critical splice donor site	probably null
R5051:5730522E02Rik	UTSW	11	25768990	missense	unknown
R5357:5730522E02Rik	UTSW	11	25648148	nonsense	probably null
R7491:5730522E02Rik	UTSW	11	25769014	missense	unknown
X0025:5730522E02Rik	UTSW	11	25652017	missense	unknown

Posted On

2016-08-02