Mutagenetix > Incidental Mutation

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

Essential gene?

Probably non essential (E-score: 0.163) question?

Stock #

IGL03136

Quality Score

Status

Chromosome

Chromosomal Location

25566846-26160576 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 25719122 bp (GRCm39)

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]

AlphaFold

Q5SP45

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: 76,316,121 (GRCm39)	W571*	probably null	Het
Adam18	A	T	8: 25,131,852 (GRCm39)	C420S	probably damaging	Het
Akap5	G	T	12: 76,376,649 (GRCm39)	E694*	probably null	Het
Bbs1	T	C	19: 4,941,019 (GRCm39)	K565R	probably benign	Het
Brix1	A	G	15: 10,478,852 (GRCm39)	F189S	probably damaging	Het
Cnot4	C	A	6: 35,028,176 (GRCm39)	R480L	probably damaging	Het
Ctu2	A	G	8: 123,205,940 (GRCm39)		probably benign	Het
Dhcr7	A	G	7: 143,401,103 (GRCm39)	H422R	probably damaging	Het
Dock1	A	G	7: 134,770,118 (GRCm39)	M1793V	probably benign	Het
Dock7	A	G	4: 98,892,028 (GRCm39)	F853L	probably damaging	Het
Fkbp15	G	A	4: 62,258,466 (GRCm39)		probably benign	Het
Ftsj3	C	T	11: 106,144,639 (GRCm39)	D117N	probably damaging	Het
Gphn	A	G	12: 78,528,107 (GRCm39)	I142V	possibly damaging	Het
Hsd3b1	G	A	3: 98,760,301 (GRCm39)	A230V	probably damaging	Het
Hydin	G	A	8: 111,145,156 (GRCm39)	A836T	probably benign	Het
Ift52	G	T	2: 162,867,254 (GRCm39)	E71*	probably null	Het
Ms4a14	T	C	19: 11,281,775 (GRCm39)	D261G	possibly damaging	Het
Nid1	G	A	13: 13,675,084 (GRCm39)	V935I	probably benign	Het
Nrap	T	C	19: 56,330,687 (GRCm39)	K1008E	possibly damaging	Het
Nup210	A	C	6: 91,005,843 (GRCm39)	V1340G	probably benign	Het
Or2aj4	A	T	16: 19,385,103 (GRCm39)	F177I	probably damaging	Het
Or5b94	T	A	19: 12,652,331 (GRCm39)	I254N	probably damaging	Het
Or8d6	T	C	9: 39,854,332 (GRCm39)	Y259H	probably damaging	Het
Pcdhb15	C	A	18: 37,608,067 (GRCm39)	T433N	probably damaging	Het
Pdcd6ip	T	A	9: 113,520,567 (GRCm39)	N139I	probably damaging	Het
Pgbd1	A	G	13: 21,617,609 (GRCm39)	V80A	possibly damaging	Het
Pigw	A	G	11: 84,768,603 (GRCm39)	I242T	probably benign	Het
Prtg	T	G	9: 72,764,267 (GRCm39)	V580G	possibly damaging	Het
Ptpn13	T	A	5: 103,691,329 (GRCm39)	N1065K	possibly damaging	Het
Qrich1	G	A	9: 108,422,117 (GRCm39)	R577H	probably damaging	Het
Ryr3	G	A	2: 112,506,319 (GRCm39)		probably benign	Het
Selenoi	T	C	5: 30,462,725 (GRCm39)	Y197H	probably damaging	Het
Slc47a2	A	G	11: 61,201,591 (GRCm39)	C343R	probably benign	Het
Smurf2	A	T	11: 106,721,874 (GRCm39)	D527E	probably benign	Het
Spam1	C	T	6: 24,797,010 (GRCm39)		probably benign	Het
Stkld1	T	C	2: 26,841,435 (GRCm39)	V460A	probably benign	Het
Tgoln1	G	A	6: 72,591,096 (GRCm39)	R339W	probably damaging	Het
Tprg1	T	C	16: 25,231,512 (GRCm39)		probably benign	Het
Treml1	T	G	17: 48,671,879 (GRCm39)		probably benign	Het
Ttc39b	A	T	4: 83,155,517 (GRCm39)	V497E	probably damaging	Het
Vmn1r223	A	G	13: 23,433,933 (GRCm39)	T176A	possibly damaging	Het
Vmn2r75	A	T	7: 85,797,911 (GRCm39)	I634N	possibly damaging	Het
Vps13c	A	G	9: 67,857,592 (GRCm39)	E2608G	probably damaging	Het
Zfp575	A	G	7: 24,285,381 (GRCm39)	C87R	probably damaging	Het
Zfp790	T	A	7: 29,529,320 (GRCm39)	Y668*	probably null	Het

Other mutations in 5730522E02Rik

Allele	Source	Chr	Coord	Type	Predicted Effect
R0375:5730522E02Rik	UTSW	11	25,719,092 (GRCm39)	missense	unknown
R0828:5730522E02Rik	UTSW	11	25,602,020 (GRCm39)	missense	unknown
R1337:5730522E02Rik	UTSW	11	25,719,033 (GRCm39)	missense	unknown
R4818:5730522E02Rik	UTSW	11	25,720,472 (GRCm39)	critical splice donor site	probably null
R4942:5730522E02Rik	UTSW	11	25,720,472 (GRCm39)	critical splice donor site	probably null
R5051:5730522E02Rik	UTSW	11	25,718,990 (GRCm39)	missense	unknown
R5357:5730522E02Rik	UTSW	11	25,598,148 (GRCm39)	nonsense	probably null
R7491:5730522E02Rik	UTSW	11	25,719,014 (GRCm39)	missense	unknown
R8983:5730522E02Rik	UTSW	11	25,719,069 (GRCm39)	missense	unknown
X0025:5730522E02Rik	UTSW	11	25,602,017 (GRCm39)	missense	unknown

Posted On

2016-08-02