Mutagenetix > Incidental Mutations

Incidental Mutation 'IGL01393:C530008M17Rik'

79307

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

C530008M17Rik

Ensembl Gene

ENSMUSG00000036377

Gene Name

RIKEN cDNA C530008M17 gene

Synonyms

Accession Numbers

Is this an essential gene?

Non essential (E-score: 0.000) question?

Stock #

IGL01393

Quality Score

Status

Chromosome

Chromosomal Location

76656512-76873554 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 76858971 bp

Zygosity

Heterozygous

Amino Acid Change

Serine to Proline at position 1060 (S1060P)

Ref Sequence

ENSEMBL: ENSMUSP00000127212 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000120639] [ENSMUST00000121160] [ENSMUST00000163347]

Predicted Effect

unknown
Transcript: ENSMUST00000120639
AA Change: S1060P

SMART Domains

Protein: ENSMUSP00000113796
Gene: ENSMUSG00000036377
AA Change: S1060P

Domain	Start	End	E-Value	Type
Pfam:DUF4592	44	173	1.7e-45	PFAM
low complexity region	210	220	N/A	INTRINSIC
coiled coil region	224	291	N/A	INTRINSIC
coiled coil region	328	482	N/A	INTRINSIC
low complexity region	533	547	N/A	INTRINSIC
low complexity region	580	593	N/A	INTRINSIC
low complexity region	875	888	N/A	INTRINSIC
internal_repeat_1	947	1025	1.47e-5	PROSPERO
low complexity region	1034	1047	N/A	INTRINSIC
internal_repeat_1	1065	1122	1.47e-5	PROSPERO
low complexity region	1268	1280	N/A	INTRINSIC

Predicted Effect

unknown
Transcript: ENSMUST00000121160
AA Change: S1060P

SMART Domains

Protein: ENSMUSP00000113947
Gene: ENSMUSG00000036377
AA Change: S1060P

Domain	Start	End	E-Value	Type
Pfam:DUF4592	45	172	1.8e-41	PFAM
low complexity region	210	220	N/A	INTRINSIC
coiled coil region	224	291	N/A	INTRINSIC
coiled coil region	328	482	N/A	INTRINSIC
low complexity region	533	547	N/A	INTRINSIC
low complexity region	580	593	N/A	INTRINSIC
low complexity region	875	888	N/A	INTRINSIC
low complexity region	1034	1047	N/A	INTRINSIC
low complexity region	1271	1283	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000152373

Predicted Effect

unknown
Transcript: ENSMUST00000163347
AA Change: S1060P

SMART Domains

Protein: ENSMUSP00000127212
Gene: ENSMUSG00000036377
AA Change: S1060P

Domain	Start	End	E-Value	Type
Pfam:DUF4592	44	173	1.7e-45	PFAM
low complexity region	210	220	N/A	INTRINSIC
coiled coil region	224	291	N/A	INTRINSIC
coiled coil region	328	482	N/A	INTRINSIC
low complexity region	533	547	N/A	INTRINSIC
low complexity region	580	593	N/A	INTRINSIC
low complexity region	875	888	N/A	INTRINSIC
internal_repeat_1	947	1025	1.47e-5	PROSPERO
low complexity region	1034	1047	N/A	INTRINSIC
internal_repeat_1	1065	1122	1.47e-5	PROSPERO
low complexity region	1268	1280	N/A	INTRINSIC

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 54 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930474N05Rik	G	A	14: 36,096,422	V126I	possibly damaging	Het
A630073D07Rik	G	T	6: 132,626,614	Q60K	unknown	Het
Alpk2	A	G	18: 65,307,708	S205P	possibly damaging	Het
Ang4	T	A	14: 51,764,213	I93L	probably benign	Het
Arpin	A	G	7: 79,931,840	V44A	possibly damaging	Het
Atxn3	A	T	12: 101,933,047	C263*	probably null	Het
Cd209f	T	C	8: 4,103,154	N260S	probably damaging	Het
Cdh20	A	G	1: 104,934,244	R50G	probably benign	Het
Csmd3	C	T	15: 48,457,599	V272I	possibly damaging	Het
Dst	A	T	1: 34,167,625	Y1136F	possibly damaging	Het
Fam20c	A	G	5: 138,807,271	Y420C	probably damaging	Het
Fancd2	T	A	6: 113,577,360		probably benign	Het
Fat2	T	C	11: 55,269,309	D3326G	probably benign	Het
Filip1l	A	G	16: 57,572,223	N820S	probably damaging	Het
Gm26566	G	A	4: 88,722,344		probably benign	Het
Gm4792	A	G	10: 94,298,442	L22P	unknown	Het
Gpat2	A	G	2: 127,432,651	E386G	probably damaging	Het
Grm3	T	C	5: 9,589,856	D63G	probably benign	Het
Hdc	A	G	2: 126,594,661	V430A	probably benign	Het
Hnf4a	T	C	2: 163,551,572		probably benign	Het
Il2ra	A	G	2: 11,683,054	D215G	probably damaging	Het
Kctd3	T	C	1: 189,000,290	I74V	probably benign	Het
Kctd5	A	T	17: 24,059,318		probably null	Het
Lrsam1	A	T	2: 32,955,173		probably benign	Het
Mblac1	A	G	5: 138,194,774	N126S	possibly damaging	Het
Mmrn1	T	A	6: 60,960,708		probably benign	Het
Mpp3	A	T	11: 102,025,478	L16Q	probably damaging	Het
Mrgprb1	C	A	7: 48,448,006	A53S	possibly damaging	Het
Nbea	C	A	3: 56,005,308	M1019I	probably benign	Het
Nlrp5	A	G	7: 23,404,174	K22R	probably null	Het
Olfr1298	A	G	2: 111,645,256	V247A	probably damaging	Het
Olfr350	G	A	2: 36,850,541	R165Q	probably benign	Het
Olfr700	C	T	7: 106,806,435	G9E	probably benign	Het
Pard6b	T	A	2: 168,087,378	S35T	probably benign	Het
Peli1	T	C	11: 21,147,400	V215A	probably benign	Het
Pkp4	A	T	2: 59,347,925	D1003V	probably damaging	Het
Pot1a	G	A	6: 25,744,631	R625*	probably null	Het
Ppp1r16a	T	C	15: 76,694,544	S483P	probably benign	Het
Prpf8	C	A	11: 75,494,295	A794D	possibly damaging	Het
Prrg3	T	C	X: 71,967,517	V210A	probably benign	Het
Rev1	A	G	1: 38,092,063	V168A	probably damaging	Het
Sez6l	G	T	5: 112,438,395		probably benign	Het
Spag17	A	G	3: 100,027,610	T711A	possibly damaging	Het
Spice1	A	G	16: 44,366,630	I163M	probably benign	Het
Tex13c1	C	T	X: 43,591,356	A66V	probably damaging	Het
Tmem132d	A	T	5: 127,784,638	S806R	probably benign	Het
Tnc	A	G	4: 64,014,054		probably benign	Het
Tpbg	T	A	9: 85,844,092	V38E	unknown	Het
Unc13c	T	A	9: 73,540,270	I1883F	probably benign	Het
Vmn2r61	A	C	7: 42,266,834	Q290H	probably benign	Het
Vps39	A	G	2: 120,350,238		probably benign	Het
Zfp369	T	C	13: 65,294,474	V294A	possibly damaging	Het
Zfp821	T	A	8: 109,709,478		probably benign	Het
Zfp941	C	T	7: 140,811,928	G506E	probably damaging	Het

Other mutations in C530008M17Rik

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00470:C530008M17Rik	APN	5	76866056	unclassified	probably benign
IGL00660:C530008M17Rik	APN	5	76854933	critical splice acceptor site	probably null
IGL00924:C530008M17Rik	APN	5	76858986	missense	unknown
IGL01025:C530008M17Rik	APN	5	76658074	intron	probably benign
IGL01122:C530008M17Rik	APN	5	76870675	makesense	probably null
IGL01526:C530008M17Rik	APN	5	76857631	missense	unknown
IGL01986:C530008M17Rik	APN	5	76858610	missense	unknown
IGL02009:C530008M17Rik	APN	5	76848970	missense	possibly damaging	0.61
IGL02724:C530008M17Rik	APN	5	76858459	missense	unknown
IGL02869:C530008M17Rik	APN	5	76859043	missense	unknown
IGL03030:C530008M17Rik	APN	5	76857616	missense	unknown
IGL03150:C530008M17Rik	APN	5	76867250	missense	probably damaging	0.99
LCD18:C530008M17Rik	UTSW	5	76658742	intron	probably benign
R0975:C530008M17Rik	UTSW	5	76856318	splice site	probably benign
R1329:C530008M17Rik	UTSW	5	76657932	intron	probably benign
R1439:C530008M17Rik	UTSW	5	76840910	missense	probably damaging	0.99
R1750:C530008M17Rik	UTSW	5	76857675	missense	unknown
R1773:C530008M17Rik	UTSW	5	76867205	missense	possibly damaging	0.54
R1885:C530008M17Rik	UTSW	5	76856742	missense	unknown
R1924:C530008M17Rik	UTSW	5	76858623	missense	unknown
R2483:C530008M17Rik	UTSW	5	76856409	missense	probably damaging	0.98
R3840:C530008M17Rik	UTSW	5	76859011	missense	unknown
R3841:C530008M17Rik	UTSW	5	76859011	missense	unknown
R3874:C530008M17Rik	UTSW	5	76840892	missense	probably damaging	1.00
R3883:C530008M17Rik	UTSW	5	76856574	missense	unknown
R4033:C530008M17Rik	UTSW	5	76858465	missense	unknown
R4401:C530008M17Rik	UTSW	5	76848916	missense	probably damaging	0.98
R4749:C530008M17Rik	UTSW	5	76858834	missense	unknown
R4884:C530008M17Rik	UTSW	5	76848835	missense	probably damaging	1.00
R4980:C530008M17Rik	UTSW	5	76857574	missense	unknown
R5010:C530008M17Rik	UTSW	5	76657834	utr 5 prime	probably benign
R5086:C530008M17Rik	UTSW	5	76857124	missense	unknown
R5468:C530008M17Rik	UTSW	5	76840763	intron	probably benign
R5786:C530008M17Rik	UTSW	5	76866196	splice site	probably null
R5813:C530008M17Rik	UTSW	5	76858428	missense	unknown
R5866:C530008M17Rik	UTSW	5	76857537	missense	unknown
R5928:C530008M17Rik	UTSW	5	76841734	intron	probably benign
R6273:C530008M17Rik	UTSW	5	76857721	missense	unknown
R6577:C530008M17Rik	UTSW	5	76866100	unclassified	probably benign
R6838:C530008M17Rik	UTSW	5	76858209	missense	unknown
R6849:C530008M17Rik	UTSW	5	76857010	missense	unknown
R6849:C530008M17Rik	UTSW	5	76857157	missense	unknown
R6914:C530008M17Rik	UTSW	5	76857007	missense	unknown
R7017:C530008M17Rik	UTSW	5	76856948	small deletion	probably benign
R7094:C530008M17Rik	UTSW	5	76859032	missense	unknown
R7367:C530008M17Rik	UTSW	5	76856602	missense	unknown
R7394:C530008M17Rik	UTSW	5	76856954	small deletion	probably benign
R7436:C530008M17Rik	UTSW	5	76856954	small deletion	probably benign
R7443:C530008M17Rik	UTSW	5	76856638	missense	unknown
R7500:C530008M17Rik	UTSW	5	76658058	missense	unknown
R7566:C530008M17Rik	UTSW	5	76866275	splice site	probably null
R7633:C530008M17Rik	UTSW	5	76857520	missense	unknown
R7728:C530008M17Rik	UTSW	5	76857469	missense	unknown
R7930:C530008M17Rik	UTSW	5	76856954	small deletion	probably benign
R7985:C530008M17Rik	UTSW	5	76658050	missense	unknown
R8154:C530008M17Rik	UTSW	5	76841797	missense	unknown
R8463:C530008M17Rik	UTSW	5	76856954	small deletion	probably benign
R8547:C530008M17Rik	UTSW	5	76856954	small deletion	probably benign
Z1176:C530008M17Rik	UTSW	5	76857246	missense	unknown

Posted On

2013-11-05